Veronica Redaelli

Scopus Publications

Plasma extracellular vesicles and phosphorylated tau 181 as early biomarkers of cognitive impairment in Alzheimer’s dementia
Viviana Brembati, Daniela Crescenti, Andrea Geviti, Elisa Rossini, Federico Angelo Cazzaniga, Fabio Moda, Elisa R. Zanier, Gisella Guerrera, Luca Battistini, Simone Baiardi, Alessandra Mandelli, Roberto Furlan, Federico Verde, Benedetta Nacmias, Chiara Adriana Elia, Maria Luisa Malosio, Alberto Imarisio, Franca Rosa Guerini, Chiara Fenoglio, Alessio Di Fonzo, Leonardo Biscetti, Margherita Squillario, Silvia Berra, Francesca Miraglia, Paolo Maria Rossini, Camillo Marra, Nicola Vanacore, Alberto Redolfi, Daniela Perani, Patrizia Spadin, Maria Cotelli, Stefano Cappa, Naike Caraglia, Fabrizio Vecchio, Pietro Tiraboschi, Federica Piras, Giovanni B. Frisoni, Cristina Muscio, Raffaele Lodi, Piero Parchi, Fabrizio Tagliavini, Enza Maria Valente, Gianluigi Forloni, Roberta Ghidoni, , /, Maurizio Belfiglio, Giacomina Rossi, Emanuela Maderna, Marcella Catania, Giuseppe Di Fede, Davide Quaranta, Emanuele Cassetta, Mario Barbagallo, Carlo Gabelli, Simona Luzzi, Fulvio Lauretani, Innocenzo Rainero, Carlo Ferrarese, Orazio Zanetti, Michela Marcon, Flavio Mariano Nobili, Matteo Pardini, Giuseppe Pelliccioni, Sabina Capellari, Elena Sinforiani, Alfredo Costa, Gioacchino Tedeschi, Carmen Gerace, Laura Bonanni, Sandro Sorbi, Lucilla Parnetti, , Ilaria Bizzozero, Paola Caroppo, Valeria Crepaldi, Giuseppe Di Fede, Giorgio Giaccone, Veronica Redaelli, Marcella Catania, Edoardo Bistaffa, Chiara Maria Giulia De Luca, Giacomina Rossi, Chiara Boiocchi, Sara Cimini, Maria Grazia Bruzzone, Luigi Antelmi, Stefania Ferraro, Ruben Gianeri, Jean Paul Medina, Anna Nigri, Cristina Rosazza, Domenico Arenella, Fabrizio Piras, Desiree Estela Porcari, Daniela Vecchio, Roberto Langella, Domenico Mancini, Giovanni Mancini, Marco Bozzali, Giovanni Giulietti, Laura Serr, Orazio Schillaci, Agostino Chiaravalloti, Valentino Bettinardi, Sandro Iannaccone, Federica Alemanno, Valerio Golzi, Anna Parma, Alessandra Marcone, Teresa Sikora, Cristina Festari, Valentino Nicolosi, Jorge Jovicich, Silvia De Francesco, Luisa Benussi, Guido Domingo, Roberta Zanardini, Daniela Galimberti, Elio Scarpini, Barbara Borroni, Elisa Bonomi, Viviana Cristillo, Silvia Pelizzari, Rosanna Turrone, Luca Rozzini, Roberto Gasparotti, Daniela Corbo, Lorella Mascaro, Barbara Paghera, Lucilla Parnetti, Elena Chipi, Chiara Montanucci, Lucia Farotti, Mirella Russo, Massimo Eugenio Dottorini, Cristina Tranfaglia, Roberto Tarducci, Andrea Chiappiniello, Pietro Chiarini, Pietro Floridi, Sandro Sorbi, Cristina Polito, Silvia Bagnoli, Gemma Lombardi, Alberto Pupi, Valentina Berti, Maria Teresa De Cristofaro, Alessandro Passeri, Enrico Fainardi, Andrea Ginestroni, Stefano Chiti, Roberto D’Alessandro, Ambra Fiorani, Simona Linarello, , Sonia Bellini, Antonio Longobardi, Valentina Bonetto, Ilaria Lisi, Laura Pasetto, Emiliano Giardina, Giulia Sancesario, Antonia Ratti, Vincenzo Silani, Nicola Ticozzi, Silvia Bagnoli, Assunta Ingannato, Michela Matteoli, Micol Avenali, Rosaria Calabrese, Cristina Agliardi, Daniela Galimberti, Michele Piana, Annarita Bentivoglio, Giulia Di Lazzaro, Stefano Gambardella
Alzheimer S Research and Therapy, 2026
Timely and accurate diagnosis of Alzheimer’s disease (AD) in clinical practice is a great challenge, especially during early disease stages with subtle or mild symptoms of cognitive decline. Moreover, robust and more accessible blood-based screening tests for early diagnosis are needed. In this study, we investigated the core AD blood biomarkers — amyloid beta 42 (Aβ42) and 40 (Aβ40) peptides, phosphorylated tau 181 (p-Tau181), neurofilament light chain (NfL), and total tau (t-Tau) — and extracellular vesicle (EVs) size and concentration in individuals characterized by different stages of cognitive decline to identify biochemical markers of dementia for early diagnosis. A total of n = 800 human plasma samples were analyzed. Plasma levels of NfL, t-Tau, p-Tau181, Aβ42, Aβ40 and plasma EVs were evaluated in n = 217 elderly healthy subjects (CTRL), in individuals with subjective cognitive complaints (SCC, n = 48), pre-mild cognitive impairment (pre-MCI, n = 58) and mild cognitive impairment (MCI, n = 426), and in n = 51 probable AD dementia patients (AD-dem), using ultrasensitive Single Molecule Array technology (Simoa®) and nanoparticle tracking analysis (NTA). Logistic regression and Receiver Operating Characteristic (ROC) analyses were employed. Plasma NfL displayed increased levels in AD-dem and MCI patients, while p-Tau181, Aβ42/Aβ40 ratio, Aβ42/p-Tau181 ratio, and EVs plasma levels were altered since the early stages of the pathology: in particular, p-Tau181 levels increased as cognitive symptoms worsened, already in the SCC and pre-MCI groups compared to CTRL, while the ratio of EVs concentration and size (EVs ratio) was decreased in all groups compared to CTRL. Plasma p-Tau181 best classified AD-dem patients from CTRL with an area under the curve (AUC) equal to 0.87, while EVs ratio best differentiated SCC from CTRL (AUC = 0.78). Combining p-Tau181 and EVs ratio with Aβ42/Aβ40 ratio and NfL, respectively, significantly improved the classification of pre-MCI and MCI from CTRL (AUCcomb = 0.79 and AUCcomb = 0.85). Combining biomarkers did not improve accuracy in discriminating MCI from SCC, pre-MCI and AD-dem. p-Tau181 and EVs ratio are promising biomarkers for the identification of individuals at risk of degenerative dementia. Combining the core AD plasma biomarkers with EVs ratio can aid in diagnosing the early stages of AD dementia.
Peripheral microRNA signature in genetic frontotemporal dementia—findings from the GENFI initiative
Chiara Fenoglio, Maria Serpente, Marina Arcaro, Tiziana Carandini, Luca Sacchi, Manuela Pintus, Vittoria Borracci, Giulia Giudici, Marta Rigoni, Paola Muti, Laura Ghezzi, Arabella Bouzigues, Lucy L. Rusell, Phoebe H. Foster, Eve Ferry-Bolder, John C. van Swieten, Lize C. Jiskoot, Harro Seelaar, Raquel Sánchez Valle, Robert Laforce, Caroline Graff, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tiraboschi, Isabel Santana, Alexander Gerhard, Johannes Levin, Florence Pasquier, Simon Ducharme, Isabelle Le Ber, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, James B. Rowe, Matthis Synofzik, Fermin Moreno, Barbara Borroni, Andrea Sacconi, Jonathan D. Rohrer, Andrea Arighi, Daniela Galimberti, , Antonella Alberici, Sónia Afonso, Patricia Alves, Sarah Anderl-Straub, Anna Antonelli, Mircea Balasa, Myriam Barandiaran, Nuria Bargalló, Robert Bartha, Benjamin Bender, Alexander Maximilian Bernhardt, Maxime Bertoux, Anne Bertrand, Valentina Bessi, Sandra Black, Giorgio Bocca, Martina Bocchetta, Sergi Borrego-Ecija, Alexis Brice, Rose Bruffaerts, Valentina Cantoni, Paola Caroppo, David Cash, Miguel Castelo-Branco, Olivier Colliot, Rhian Convery, Thomas Cope, Tiago Costa-Coelho, Ioana Croitoru, Agnès Camuzat, Liset de Boer, Julie de Houwer, Vincent Deramecourt, João Durães, Giuseppe Di Fede, Camilla Ferrari, Graziana Florio, Marta Frascotti, Morris Freedman, Aurélie Funkiewiez, Alazne Gabilondo, Roberto Gasparotti, Giorgio Giaccone, Lucia Giannini, Sophie Goldsmith, Lisa Graf, Vesna Jelic, Ron Keren, Johanna Krüger, Gregory Kuchcinski, Tobias Langheinrich, Thibaud Lebouvier, Maria João Leitão, João Lemos, Marisa Lima, Albert Lladó, Gemma Lombardi, Jolina Lombardi, Maura Malpetti, Carolina Maruta, David Mengel, Gabriel Miltenberger, Sara Mitchell, Maxime Montembault, Benedetta Nacmias, Mattias Nilsson, Linn Öijerstedt, Jaume Olives, Janne Papma, Yolande Pijnenburg, Koen Poesen, Cristina Polito, Jackie Poos, Enrico Premi, Sara Prioni, Catharina Prix, Veronica Redaelli, Timothy Rittman, Rosa Rademakers, Daisy Rinaldi, Ekaterina Rogaeva, Adeline Rollin, Pedro Rosa-Neto, Maria Rosario Almeida, Giacomina Rossi, Kiran Samra, Dario Saracino, Sabrina Sayah, Sonja Schönecker, Christen Shoesmith, Frederico Simões do Couto, Anna Stockbauer, Miguel Tábuas-Pereira, David Tang-Wai, Melissa Taheri Rydell, Mikel Tainta, David L Thomas, Mathieu Vandenbulcke, Philip Van Damme, Rick van Minkelen, Ana Verdelho, Henrik Viklund, Roberto Vimercati, Annick Vogels, Olivia Wagemann, Elisabeth Wlasich
Geroscience, 2026
Frontotemporal dementia (FTD) is a neurodegenerative disease characterized by significant clinical and genetic heterogeneity, with approximately 40% of cases linked to hereditary genetic mutations, including MAPT , GRN , and C9ORF72 . Recently, microRNAs (miRNAs) have emerged as key regulators of cellular processes related to neurodegeneration and as potential biomarkers for FTD. However, their relevance in presymptomatic stages remains poorly understood. We conducted a miRNA expression analysis using TaqMan OpenArray® panels on blood samples collected from 171 individuals, including symptomatic mutation carriers (SMC), presymptomatic carriers (PMC), and healthy non-carriers (NC). Dysregulated miRNAs were validated and bioinformatic tools were used to identify potential associated molecular pathways. In C9ORF72 , miR-20b-5p and miR-223-5p were significantly upregulated in SMC (fold regulation over NC: 2.418 p = 0.0336 and 7.829 p < 0.0264 respectively) and PMC (5.518, p < 0.0001 and 3.941, p < 0.0001 respectively). In GRN mutation carriers, miR-28-3p was altered in both SMC and PMC (fold regulation over NC: 1.484 p < 0.050 and 3.287, p < 0.050). In MAPT mutation carriers, miR-28-5p, miR-192-3p, miR-25-3p, and miR-532-3p were altered only in SMC (fold regulation over NC: 1.496 p < 0.050, 1.911 p = 0.006, 1.468 p < 0.05, and 0.728 p < 0.05). Bioinformatic analysis revealed enrichment of pathways related to neurodegeneration and synapse impairment. These results suggest that miRNA expression levels are deregulated in mutated SMC, in C9ORF72 and GRN PMC. Notably, miR-20b-5p, miR-223-5p, and miR-28-3p were increased in preclinical stages of the disease, supporting their role as early biomarkers for C9ORF72 -FTD and GRN -FTD. Conversely, alterations in MAPT carriers appeared only in symptomatic stages, suggesting a different involvement in disease progression.
Anatomical progression of genetic frontotemporal lobar degeneration across the lifespan
Vincent Planche, Boris Mansencal, Vladimir Fonov, José V Manjon, Thomas Tourdias, Arabella Bouzigues, Lucy L Russell, Phoebe H Foster, Eve Ferry-Bolder, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tiraboschi, Isabel Santana, Alexander Gerhard, Johannes Levin, Sandro Sorbi, Markus Otto, Maxime Bertoux, Thibaud Lebouvier, Chris R Butler, Isabelle Le Ber, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, James B Rowe, Matthis Synofzik, Fermin Moreno, Barbara Borroni, Jonathan D Rohrer, D Louis Collins, Simon Ducharme, Pierrick Coupé, , Rhian Convery, Martina Bocchetta, David Cash, Sophie Goldsmith, Kiran Samra, David L Thomas, Maura Malpetti, Antonella Alberici, Enrico Premi, Roberto Gasparotti, Valentina Cantoni, Andrea Arighi, Chiara Fenoglio, Vittoria Borracci, Maria Serpente, Tiziana Carandini, Emanuela Rotondo, Giacomina Rossi, Giorgio Giaccone, Giuseppe Di Fede, Paola Caroppo, Sara Prioni, Veronica Redaelli, David Tang-Wai, Ekaterina Rogaeva, Johanna Krüger, Miguel Castelo-Branco, Morris Freedman, Ron Keren, Sandra Black, Sara Mitchell, Christen Shoesmith, Robart Bartha, Rosa Rademakers, Jackie Poos, Janne M Papma, Lucia Giannini, Liset de Boer, Julie de Houwer, Rick van Minkelen, Yolande Pijnenburg, Benedetta Nacmias, Camilla Ferrari, Cristina Polito, Gemma Lombardi, Valentina Bessi, Enrico Fainardi, Stefano Chiti, Mattias Nilsson, Henrik Viklund, Melissa Taheri Rydell, Vesna Jelic, Linn Öijerstedt, Tobias Langheinrich, Albert Lladó, Anna Antonell, Jaume Olives, Mircea Balasa, Sergi Borrego-Ecija, Ana Verdelho, Carolina Maruta, Tiago Costa-Coelho, Gabriel Miltenberger, Frederico Simões do Couto, Alazne Gabilondo, Ioana Croitoru, Mikel Tainta, Myriam Barandiaran, Patricia Alves, Benjamin Bender, David Mengel, Lisa Graf, Annick Vogels, Mathieu Vandenbulcke, Philip Van Damme, Rose Bruffaerts, Koen Poesen, Pedro Rosa-Neto, Maxime Montembeault, Raphaella Lara Migliaccio, Ninon Burgos, Daisy Rinaldi, Catharina Prix, Elisabeth Wlasich, Olivia Wagemann, Sonja Schönecker, Alexander Maximilian Bernhardt, Anna Stockbauer, Jolina Lombardi, Sarah Anderl-Straub, Adeline Rollin, Gregory Kuchcinski, Vincent Deramecourt, João Durães, Marisa Lima, Maria João Leitão, Maria Rosario Almeida, Miguel Tábuas-Pereira, Sónia Afonso, João Lemos
Brain, 2025
The recent development of brain charts for the human lifespan offers an ideal modelling framework for pathologies such as genetic frontotemporal lobar degeneration (FTLD) which likely involve both neurodevelopmental and neurodegenerative processes over a lifetime. We have therefore combined this new methodological approach with MRI data from asymptomatic and symptomatic subjects, carrying C9orf72, MAPT or GRN mutations from the Genetic FTD Initiative (GENFI) and the ARTFL-LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) study. We analysed 37 532 MRIs from control subjects covering the entire lifespan and a total of 1341 MRIs from subjects with a pathogenic FTLD mutation, aged from 18 to 86 years old. We detected the first significant regional brain volume differences on average at 27 years old in C9orf72 and MAPT mutation carriers, and at 42 years old in GRN mutation carriers. The delay between the onset of anatomical changes and the average age of symptom onset (i.e. the presymptomatic phase) was 13 years for MAPT, 17 years for GRN and 34 years for C9orf72 mutation carriers. In terms of effect size, cumulative atrophy over the lifespan was twice as severe in affected brain regions in MAPT than in GRN or C9orf72 mutation carriers. However, the neurodegenerative process was spatially more extensive in C9orf72 (35 brain regions affected out of the 61 tested) compared with GRN or MAPT mutation carriers (25 and 18 regions, respectively). Schematically, the chronological staging of atrophy progression showed an initial involvement of the thalamus in C9orf72 expansion carriers, followed by the fronto-temporo-insular regions, the striatum and the amygdala. In GRN mutation carriers, atrophy began in fronto-insular areas, before progressing toward subcortical structures. In MAPT mutation carriers, atrophy affected the anterior temporal pole with the amygdala and hippocampus, before progressing to fronto-insular regions and the striatum. Our results using brain charts for the human lifespan show that C9orf72 is the most diffuse but also the slowest to emerge among genetic FTLD. MAPT FTLD is more aggressive and focal, while GRN FTLD is also rapidly progressive but with a later onset of the presymptomatic phase. Beyond quantification of the anatomical progression of genetic FTLD over the lifespan, these results may help determine the best timing to model and test disease-modifying strategies in FTLD, and monitor their effect in future clinical trials.
Implications of the glymphatic system in the diagnostic and surgical workup of normal pressure hydrocephalus
Morgan Broggi, Edoardo M. Barbieri, Alessandro Gans, Pascuzzo Riccardo, Veronica Redaelli, Domenico Aquino, Francesco Restelli, Marco Schiariti, Francesco Acerbi, Giuseppe Di Fede, Paolo Ferroli, Marina Grisoli, Fabio Doniselli
Neurological Sciences, 2025
Background Magnetic Resonance (MRI) Diffusion Tensor Imaging Analysis ALong the Perivascular Space (DTI-ALPS) is a promising technique that assesses the glymphatic system (GS) function in many neurodegenerative diseases. This study aims at evaluating the role of DTI-ALPS in the diagnostic and therapeutic management of normal pressure hydrocephalus (NPH). Methods Twenty-one NPH patients underwent 3 Tesla MRI DTI-ALPS before and after lumbar tap test (TT). Depending on the response to TT, patients were divided into a responsive cohort (15 responders, R) and non-responsive cohort (6 non-responders, NR). R patients underwent ventriculoperitoneal shunt (VPS) surgery, with clinical assessment upon discharge and at a 3-month follow-up (FU) visit; nine patients repeated DTI-ALPS MRI at FU. Besides, 8 matched healthy controls (HC) underwent the same MRI protocol. Results The pre-TT ALPS-index in NPH patients (R: 1.003 ± 0.108, NR: 0.960 ± 0.079) was significantly lower compared to the HC (1.263 ± 0.161, p < 0.01). The pre-TT ALPS-index in R patients was higher than in NR patients, though not significantly (p = 0.39). Compared to the pre-TT values, the ALPS-index of the R group increased both post TT (1.069 ± 0.122, p = 0.0499) and post VPS (1.120 ± 0.117, p = 0.041), in accordance to the clinical outcome. Conclusions DTI-ALPS, reflecting the GS function, resulted significantly lower in NPH patients than in healthy controls. Secondly, clinical improvement was associated with DTI-ALPS increase both after a positive response to TT and at long term follow-up following VPS surgery. Therefore, DTI-ALPS index could be a promising, rapid and non-invasive radiological biomarker for the pre-surgical evaluation and prognosis of NPH patients.
Choroid plexus tumors in adults: a retrospective mono-institutional study
Elena Anghileri, Paola Gaviani, Anna Amato, Bianca Pollo, Rosina Paterra, Marcello Marchetti, Fabio M. Doniselli, Francesco Restelli, Marica Eoli, Ludmila de Oliveira Muniz Koch, Veronica Redaelli, Andrea Giorgio Botturi, Francesco DiMeco, Paolo Ferroli, Mariangela Farinotti, Antonio Silvani
Neurological Sciences, 2025
Purpose Choroid plexus tumors (CPT) are rare entities, and even rarer in adulthood. Methods A retrospective consecutive series of 24 adult CPT patients was reviewed. Results We described 24 adult CPTs. Clinical onset included cerebellar signs (n = 11, 45.8%), intracranial hypertension signs (n = 8, 33.4%), cranial nerves impairment (n = 5, 20.8%), incidental findings (n = 4, 16.6%), seizures (n = 1, 4.2%), spinal signs (n = 1, 4.2%). At first diagnosis, CPT was mostly located in the ventricular system, but other locations can occur, including the spine (one case); meningeal involvement was present in one, pre-surgical hydrocephalus in one case only. CPT histological grade ranged from grade 1 (n = 17), grade 2 (n = 6), and grade 3 (n = 1). TERTp mutation was detected in 17.6% (n = 3/17). TP53 mutation in 5.9% (n = 1/17). Gross Total, Subtotal, Partial resection and Biopsy were achieved in 17 (70.8%), 3 (12.5%), 3 (12.5%) and 1 (4.2%) of patients, respectively. 76% of cases (n = 16/21) experienced clinical worsening suddenly after surgery for different reasons, and mostly gradually recovered. For three cases no data was available. Adjuvant therapy was performed only for grades 2 and 3. At recurrence, surgery, radiosurgery, radiotherapy and chemotherapy were considered. The median Overall Survival from surgery was 219.25 months (95% CI, 188.83–249.67). Conclusions We confirm that CPT can occur in adults and are mostly grade 1 tumors located in the ventricular system. The surgical approach is the gold standard, although 76% of clinical worsening occurred, often transient. Adjuvant treatment was limited to higher grade CPT; however, no consensus has already been achieved about adjuvant therapy.
A novel SORL1 mutation in a pedigree affected by early-onset Alzheimer's disease
Veronica Redaelli, Martina Ricci, Angelo Del Sole, Marina Piccione, Sara Prioni, Giacomina Rossi
Journal of Alzheimer S Disease Reports, 2025
Familial cases of Alzheimer's disease (AD) with autosomal dominant transmission and early onset have a prevalence around 1%. Since only a small fraction of them has a monogenic inheritance due to APP, PSEN1 , and PSEN2 genes, genetic studies are ongoing to unravel the missing heritability. By sequencing panels including multiple dementia-related genes, we identified a novel likely pathogenic mutation in SORL1 in a pedigree including five members affected by AD. This loss of function mutation may lead to a reduction of SORL1 receptor, worsening amyloidogenic burden. As the contribution of SORL1 mutations to heritability of AD is presently not well established, we think that it is very important to signal new familial (likely) pathogenic SORL1 mutations in order to define the actual genetic involvement of SORL1 in AD pathogenesis.
Thalamus involvement in genetic frontotemporal dementia assessed using structural and diffusion MRI: A GENFI study
Sonja Soskic, Henry F J Tregidgo, Emily G Todd, Arabella Bouzigues, David M Cash, Lucy L Russell, David L Thomas, Ian B Malone, Phoebe H Foster, Eve Ferry-Bolder, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tiraboschi, Isabel Santana, Alexander Gerhard, Johannes Levin, Benedetta Nacmias, Markus Otto, Maxime Bertoux, Thibaud Lebouvier, Simon Ducharme, Christopher R Butler, Isabelle Le Ber, Elizabeth C Finger, Maria Carmela Tartaglia, Mario Masellis, James B Rowe, Matthis Synofzik, Fermin Moreno, Barbara Borroni, Daniel C Alexander, Juan Eugenio Iglesias, Jonathan D Rohrer, Martina Bocchetta, , Rhian Convery, Sophie Goldsmith, Kiran Samra, Thomas Cope, Maura Malpetti, Antonella Alberici, Enrico Premi, Roberto Gasparotti, Emanuele Buratti, Valentina Cantoni, Andrea Arighi, Chiara Fenoglio, Vittoria Borracci, Maria Serpente, Tiziana Carandini, Emanuela Rotondo, Giacomina Rossi, Giorgio Giaccone, Giuseppe Di Fede, Paola Caroppo, Sara Prioni, Veronica Redaelli, David Tang-Wai, Ekaterina Rogaeva, Johanna Krüger, Miguel Castelo-Branco, Morris Freedman, Ron Keren, Sandra Black, Sara Mitchell, Christen Shoesmith, Robart Bartha, Rosa Rademakers, Jackie Poos, Janne M Papma, Lucia Giannini, Liset de Boer, Julie de Houwer, Rick van Minkelen, Yolande Pijnenburg, Camilla Ferrari, Cristina Polito, Gemma Lombardi, Valentina Bessi, Enrico Fainardi, Stefano Chiti, Mattias Nilsson, Henrik Viklund, Melissa Taheri Rydell, Vesna Jelic, Abbe Ullgren, Tobias Langheinrich, Albert Lladó, Anna Antonell, Jaume Olives, Mircea Balasa, Nuria Bargalló, Sergi Borrego-Ecija, Ana Verdelho, Carolina Maruta, Tiago Costa-Coelho, Gabriel Miltenberger, Frederico Simões do Couto, Alazne Gabilondo, Ioana Croitoru, Mikel Tainta, Myriam Barandiaran, Patricia Alves, Benjamin Bender, David Mengel, Lisa Graf, Annick Vogels, Mathieu Vandenbulcke, Philip Van Damme, Rose Bruffaerts, Koen Poesen, Pedro Rosa-Neto, Maxime Montembault, Raffaella Migliaccio, Ninon Burgos, Daisy Rinaldi, Catharina Prix, Elisabeth Wlasich, Olivia Wagemann, Sonja Schönecker, Alexander Maximilian Bernhardt, Anna Stockbauer, Jolina Lombardi, Sarah Anderl-Straub, Adeline Rollin, Gregory Kuchcinski, Vincent Deramecourt, João Durães, Marisa Lima, Maria João Leitão, Maria Rosario Almeida, Miguel Tábuas-Pereira, Sónia Afonso, João Lemos
Brain Communications, 2025
Thalamic subregions are commonly, but variably, affected by different forms of frontotemporal dementia. We aimed to better characterize thalamic subregional involvement in genetic frontotemporal dementia with a recently published thalamus segmentation tool that utilizes structural and diffusion MRI, offering additional assessment of mean diffusivity and a more fine-grained analysis of the pulvinar specifically compared to previous studies. Using this tool, we performed thalamus segmentations in MRI scans from C9orf72, GRN and MAPT mutation carriers and mutation non-carriers with suitable 3-Tesla MRI cross-sectional data from the GENetic Frontotemporal dementia Initiative. Mutation carriers were divided according to their genetic group and Clinical Dementia Rating® Dementia Staging Instrument plus National Alzheimer’s Coordinating Center Behaviour and Language Domains global score (0 or 0.5: presymptomatic/prodromal stage, 1 or higher: symptomatic stage). Following stringent quality control and harmonization across sites and scanners, we compared volumes and mean diffusivity values of thalamic subregions in C9orf72 (47 presymptomatic, 10 symptomatic), GRN (57 presymptomatic, 11 symptomatic) and MAPT (31 presymptomatic, 12 symptomatic) mutation carriers to those in 109 mutation non-carriers with analyses of covariance including age and sex (and total intracranial volume for volumetric comparisons) as covariates. Presymptomatic C9orf72 expansion carriers showed smaller volumes (3–8% difference from non-carriers) and higher mean diffusivity (2–5% difference from non-carriers) for several thalamic subregions, including all pulvinar subdivisions. We found subtly larger volumes of the ventral anterior subregion and the non-medial pulvinar (3% difference from non-carriers for both) in presymptomatic GRN mutation carriers, and of the anteroventral subregion (5% difference from non-carriers) in presymptomatic MAPT mutation carriers. Symptomatic mutation carriers in all three genetic groups showed significantly smaller volumes and widespread higher mean diffusivity of thalamic subregions compared with non-carriers, which were overall most prominent in subregions involved in associative and limbic functions (the midline, medial pulvinar, anteroventral, mediodorsal, laterodorsal and lateral posterior subregions). Notably smaller volume (12–23% difference from non-carriers) and higher mean diffusivity (16–23% difference from non-carriers) of the most medial part of the medial pulvinar was a shared feature across the three genetic groups at the symptomatic stage. Overall, our study confirms that thalamic subregions are affected in genetic frontotemporal dementia and identifies prominent involvement of the most medial part of the medial pulvinar as a potential unifying feature in the variable pattern of thalamic subregional involvement across the main genetic groups.
Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study
Maria Serpente, , Chiara Fenoglio, Marina Arcaro, Tiziana Carandini, Luca Sacchi, Manuela Pintus, Emanuela Rotondo, Vittoria Borracci, Laura Ghezzi, Arabella Bouzigues, Lucy L. Russell, Phoebe H. Foster, Eve Ferry-Bolder, John C. van Swieten, Lize C. Jiskoot, Harro Seelaar, Raquel Sánchez Valle, Robert Laforce, Caroline Graff, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tiraboschi, Isabel Santana, Alexander Gerhard, Johannes Levin, Sandro Sorbi, Markus Otto, Florence Pasquier, Simon Ducharme, Chris R. Butler, Isabelle Le Ber, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, James B. Rowe, Matthis Synofzik, Fermin Moreno, Barbara Borroni, Jonathan D. Rohrer, Andrea Arighi, Daniela Galimberti
Journal of Alzheimer S Disease, 2024
Background: Long non-coding RNAs (lncRNAs) play crucial roles in gene regulation and are implicated in neurodegenerative diseases, including frontotemporal dementia (FTD). However, their expression patterns and potential as biomarkers in genetic FTD involving Chromosome 9 Open Reading Frame (C9ORF72), Microtubule Associated Protein Tau (MAPT), and Progranulin (GRN) genes are not well understood. Objective: This study aimed to profile the expression levels of lncRNAs in peripheral blood mononuclear cells collected within the GENetic Frontotemporal dementia Initiative (GENFI). Methods: Fifty-three lncRNAs were analyzed with the OpenArray Custom panel, in 131 patients with mutations in C9ORF72, MAPT, and GRN, including 68 symptomatic mutation carriers (SMC) and 63 presymptomatic mutation carriers (PMC), compared with 40 non-carrier controls (NC). Results: Thirty-eight lncRNAs were detectable; the relative expression of NEAT1 and NORAD was significantly higher in C9ORF72 SMC as compared with NC. GAS5 expression was instead significantly lower in the GRN group versus NC. MAPT carriers showed no significant deregulations. No significant differences were observed in PMC. Disease duration did not correlate with lncRNA expression. Conclusions: NEAT1 and NORAD are upregulated in C9ORF72 SMC and GAS5 levels are downregulated in GRN SMC, underlining lncRNAs’ relevance in FTD and their potential for biomarker development. Further validation and mechanistic studies are crucial for clinical implications.
Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results
Maurice Pasternak, Saira S. Mirza, Nicholas Luciw, Henri J. M. M. Mutsaerts, Jan Petr, David Thomas, David Cash, Martina Bocchetta, Maria Carmela Tartaglia, Sara B. Mitchell, Sandra E. Black, Morris Freedman, David Tang‐Wai, Ekaterina Rogaeva, Lucy L. Russell, Arabella Bouzigues, John C. van Swieten, Lize C. Jiskoot, Harro Seelaar, Robert Laforce, Pietro Tiraboschi, Barbara Borroni, Daniela Galimberti, James B. Rowe, Caroline Graff, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Chris Butler, Alex Gerhard, Raquel Sanchez‐Valle, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Johannes Levin, Markus Otto, Isabel Santana, Antonio P. Strafella, Bradley J. MacIntosh, Jonathan D. Rohrer, Mario Masellis, and
Alzheimer S and Dementia, 2024
INTRODUCTIONEffective longitudinal biomarkers that track disease progression are needed to characterize the presymptomatic phase of genetic frontotemporal dementia (FTD). We investigate the utility of cerebral perfusion as one such biomarker in presymptomatic FTD mutation carriers.METHODSWe investigated longitudinal profiles of cerebral perfusion using arterial spin labeling magnetic resonance imaging in 42 C9orf72, 70 GRN, and 31 MAPT presymptomatic carriers and 158 non‐carrier controls. Linear mixed effects models assessed perfusion up to 5 years after baseline assessment.RESULTSPerfusion decline was evident in all three presymptomatic groups in global gray matter. Each group also featured its own regional pattern of hypoperfusion over time, with the left thalamus common to all groups. Frontal lobe regions featured lower perfusion in those who symptomatically converted versus asymptomatic carriers past their expected age of disease onset.DISCUSSIONCerebral perfusion is a potential biomarker for assessing genetic FTD and its genetic subgroups prior to symptom onset.Highlights Gray matter perfusion declines in at‐risk genetic frontotemporal dementia (FTD). Regional perfusion decline differs between at‐risk genetic FTD subgroups . Hypoperfusion in the left thalamus is common across all presymptomatic groups. Converters exhibit greater right frontal hypoperfusion than non‐converters past their expected conversion date. Cerebral hypoperfusion is a potential early biomarker of genetic FTD.
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia
Kiran Samra, Georgia Peakman, Amy M. MacDougall, Arabella Bouzigues, Caroline V. Greaves, Rhian S. Convery, John C. van Swieten, Lize Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sanchez‐Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R. Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D. Rohrer, Lucy L. Russell, and
Alzheimer S and Dementia Diagnosis Assessment and Disease Monitoring, 2024
INTRODUCTIONWe aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR plus NACC FTLD).METHODSNeuropsychiatric and motor domains were added to the standard CDR plus NACC FTLD generating a new CDR plus NACC FTLD‐NM scale. This was assessed in 522 mutation carriers and 310 mutation‐negative controls from the Genetic Frontotemporal dementia Initiative (GENFI).RESULTSThe new scale led to higher global severity scores than the CDR plus NACC FTLD: 1.4% of participants were now considered prodromal rather than asymptomatic, while 1.3% were now considered symptomatic rather than asymptomatic or prodromal. No participants with a clinical diagnosis of an FTD spectrum disorder were classified as asymptomatic using the new scales.DISCUSSIONAdding new domains to the CDR plus NACC FTLD leads to a scale that encompasses the wider phenotypic spectrum of FTD with further work needed to validate its use more widely.Highlights The new Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains neuropsychiatric and motor (CDR plus NACC FTLD‐NM) rating scale was significantly positively correlated with the original CDR plus NACC FTLD and negatively correlated with the FTD Rating Scale (FRS). No participants with a clinical diagnosis in the frontotemporal dementia spectrum were classified as asymptomatic with the new CDR plus NACC FTLD‐NM rating scale. Individuals had higher global severity scores with the addition of the neuropsychiatric and motor domains. A receiver operating characteristic analysis of symptomatic diagnosis showed nominally higher areas under the curve for the new scales.
Impaired glymphatic system in genetic frontotemporal dementia: a GENFI study
Enrico Premi, Matteo Diano, Irene Mattioli, Daniele Altomare, Valentina Cantoni, Martina Bocchetta, Roberto Gasparotti, Emanuele Buratti, Marta Pengo, Arabella Bouzigues, Lucy L Russell, Phoebe H Foster, Eve Ferry-Bolder, Carolin Heller, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sanchez-Valle, Daniela Galimberti, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Chris R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Matthis Synofzik, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D Rohrer, Barbara Borroni, , David L Thomas, Emily Todd, Caroline V Greaves, Jennifer Nicholas, Kiran Samra, Rhian Convery, Carolyn Timberlake, Thomas Cope, Timothy Rittman, Andrea Arighi, Chiara Fenoglio, Elio Scarpini, Giorgio Fumagalli, Vittoria Borracci, Giacomina Rossi, Giorgio Giaccone, Giuseppe Di Fede, Paola Caroppo, Sara Prioni, Veronica Redaelli, David Tang-Wai, Ekaterina Rogaeva, Miguel Castelo-Branco, Morris Freedman, Ron Keren, Sandra Black, Sara Mitchell, Christen Shoesmith, Robart Bartha, Rosa Rademakers, Jackie Poos, Janne M Papma, Lucia Giannini, Rick van Minkelen, Yolande Pijnenburg, Benedetta Nacmias, Camilla Ferrari, Cristina Polito, Gemma Lombardi, Valentina Bessi, Michele Veldsman, Christin Andersson, Hakan Thonberg, Linn Öijerstedt, Vesna Jelic, Paul Thompson, Tobias Langheinrich, Albert Lladó, Anna Antonell, Jaume Olives, Mircea Balasa, Nuria Bargalló, Sergi Borrego-Ecija, Ana Verdelho, Carolina Maruta, Tiago Costa-Coelho, Gabriel Miltenberger, Alazne Gabilondo, Ana Gorostidi, Jorge Villanua, Marta Cañada, Mikel Tainta, Miren Zulaica, Myriam Barandiaran, Patricia Alves, Benjamin Bender, Carlo Wilke, Lisa Graf, Annick Vogels, Mathieu Vandenbulcke, Philip Van Damme, Rose Bruffaerts, Koen Poesen, Pedro Rosa-Neto, Serge Gauthier, Agnès Camuzat, Alexis Brice, Anne Bertrand, Aurélie Funkiewiez, Daisy Rinaldi, Dario Saracino, Olivier Colliot, Sabrina Sayah, Catharina Prix, Elisabeth Wlasich, Olivia Wagemann, Sandra Loosli, Sonja Schönecker, Tobias Hoegen, Jolina Lombardi, Sarah Anderl-Straub, Adeline Rollin, Gregory Kuchcinski, Maxime Bertoux, Thibaud Lebouvier, Vincent Deramecourt, Beatriz Santiago, Diana Duro, Maria João Leitão, Maria Rosario Almeida, Miguel Tábuas-Pereira, Sónia Afonso
Brain Communications, 2024
Defining the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease MV2K: the kuru plaque type
Simone Baiardi, Angela Mammana, Sofia Dellavalle, Marcello Rossi, Veronica Redaelli, Elisa Colaizzo, Giuseppe Di Fede, Anna Ladogana, Sabina Capellari, Piero Parchi
Brain, 2023
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia
Aurélie Bussy, Jake P. Levy, Tristin Best, Raihaan Patel, Lani Cupo, Tim Van Langenhove, Jørgen E. Nielsen, Yolande Pijnenburg, Maria Landqvist Waldö, Anne M. Remes, Matthias L. Schroeter, Isabel Santana, Florence Pasquier, Markus Otto, Adrian Danek, Johannes Levin, Isabelle Le Ber, Rik Vandenberghe, Matthis Synofzik, Fermin Moreno, Alexandre de Mendonça, Raquel Sanchez‐Valle, Robert Laforce, Tobias Langheinrich, Alexander Gerhard, Caroline Graff, Chris R. Butler, Sandro Sorbi, Lize Jiskoot, Harro Seelaar, John C. van Swieten, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, Pietro Tiraboschi, Daniela Galimberti, Barbara Borroni, James B. Rowe, Martina Bocchetta, Jonathan D. Rohrer, Gabriel A. Devenyi, M. Mallar Chakravarty, Simon Ducharme, and
Human Brain Mapping, 2023
Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia
David J. Whiteside, Maura Malpetti, P. Simon Jones, Boyd C. P. Ghosh, Ian Coyle‐Gilchrist, John C. van Swieten, Harro Seelaar, Lize Jiskoot, Barbara Borroni, Raquel Sanchez‐Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Chris R. Butler, Isabel Santana, Isabelle Le Ber, Alexander Gerhard, Simon Ducharme, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Florence Pasquier, Arabella Bouzigues, Lucy L. Russell, Jonathan D. Rohrer, James B. Rowe, Timothy Rittman, and
Alzheimer S and Dementia, 2023
Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales
Kiran Samra, Amy M. MacDougall, Georgia Peakman, Arabella Bouzigues, Martina Bocchetta, David M. Cash, Caroline V. Greaves, Rhian S. Convery, John C. van Swieten, Lize Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R. Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D. Rohrer, Lucy L. Russell, , Annabel Nelson, Martina Bocchetta, David Cash, David L. Thomas, Emily Todd, Hanya Benotmane, Jennifer Nicholas, Kiran Samra, Rachelle Shafei, Carolyn Timberlake, Thomas Cope, Timothy Rittman, Alberto Benussi, Enrico Premi, Roberto Gasparotti, Silvana Archetti, Stefano Gazzina, Valentina Cantoni, Andrea Arighi, Chiara Fenoglio, Giorgio Fumagalli, Vittoria Borracci, Giacomina Rossi, Giorgio Giaccone, Giuseppe Di Fede, Paola Caroppo, Pietro Tiraboschi, Sara Prioni, Veronica Redaelli, David Tang-Wai, Ekaterina Rogaeva, Miguel Castelo-Branco, Morris Freedman, Ron Keren, Sandra Black, Sara Mitchell, Christen Shoesmith, Robart Bartha, Rosa Rademakers, Jackie Poos, Janne M. Papma, Lucia Giannini, Rick van Minkelen, Yolande Pijnenburg, Benedetta Nacmias, Camilla Ferrari, Cristina Polito, Gemma Lombardi, Valentina Bessi, Michele Veldsman, Christin Andersson, Hakan Thonberg, Linn Öijerstedt, Vesna Jelic, Paul Thompson, Tobias Langheinrich, Albert Lladó, Anna Antonell, Jaume Olives, Mircea Balasa, Nuria Bargalló, Sergi Borrego-Ecija, Ana Verdelho, Carolina Maruta, Catarina B. Ferreira, Gabriel Miltenberger, Frederico Simões do Couto, Alazne Gabilondo, Ana Gorostidi, Jorge Villanua, Marta Cañada, Mikel Tainta, Miren Zulaica, Myriam Barandiaran, Patricia Alves, Benjamin Bender, Carlo Wilke, Lisa Graf, Annick Vogels, Mathieu Vandenbulcke, Philip Van Damme, Rose Bruffaerts, Koen Poesen, Pedro Rosa-Neto, Serge Gauthier, Agnès Camuzat, Alexis Brice, Anne Bertrand, Aurélie Funkiewiez, Daisy Rinaldi, Dario Saracino, Olivier Colliot, Sabrina Sayah, Catharina Prix, Elisabeth Wlasich, Olivia Wagemann, Sandra Loosli, Sonja Schönecker, Tobias Hoegen, Jolina Lombardi, Sarah Anderl-Straub, Adeline Rollin, Gregory Kuchcinski, Maxime Bertoux, Thibaud Lebouvier, Vincent Deramecourt, Beatriz Santiago, Diana Duro, Maria João Leitão, Maria Rosario Almeida, Miguel Tábuas-Pereira, Sónia Afonso
Journal of Neurology, 2023
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study
Agnès Pérez-Millan, Sergi Borrego-Écija, John C. van Swieten, Lize Jiskoot, Fermin Moreno, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R. Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Pietro Tiraboschi, Harro Seelaar, Tobias Langheinrich, Jonathan D. Rohrer, Roser Sala-Llonch, Raquel Sánchez-Valle, , Abbe Ullgren, Adeline Rollin, Agnès Camuzat, Aitana Sogorb Esteve, Alazne Gabilondo, Albert Lladó, Alberto Benussi, Alexis Brice, Ana Gorostidi, Ana Verdelho, Andrea Arighi, Anna Antonell, Anne Bertrand, Annerose Engel, Annick Vogels, Arabella Bouzigues, Aurélie Funkiewiez, Benedetta Nacmias, Benjamin Bender, Camilla Ferrari, Carlo Wilke, Carolin Heller, Carolina Maruta, Caroline V. Greaves, Carolyn Timberlake, Catarina B. Ferreira, Catharina Prix, Chiara Fenoglio, Christen Shoesmith, Cristina Polito, Daisy Rinaldi, Dario Saracino, David Cash, David L. Thomas, David Tang-Wai, Diana Duro, Ekaterina Rogaeva, Elio Scarpini, Elisabeth Wlasich, Emanuele Buratti, Emily Todd, Enrico Premi, Frederico Simões do Couto, Gabriel Miltenberger, Gemma Lombardi, Giacomina Rossi, Giorgio Fumagalli, Giorgio Giaccone, Giuseppe Di Fede, Gregory Kuchcinski, Hanya Benotmane, Henrik Zetterberg, Imogen J. Swift, Jackie Poos, Janne M. Papma, Jennifer Nicholas, João Durães, Jolina Lombardi, Jordi Juncà-Parella, Jordi Sarto, Jorge Villanua, Kiran Samra, Koen Poesen, Linn Öijerstedt, Lisa Graf, Lucia Giannini, Lucy L. Russell, Maria João Leitão, Maria Rosario Almeida, Maria Serpente, Marisa Lima, Marta Cañada, Martina Bocchetta, Maryna Polyakova, Mathieu Vandenbulcke, Maxime Bertoux, Michele Veldsman, Miguel Castelo-Branco, Miguel Tábuas-Pereira, Mikel Tainta, Mircea Balasa, Miren Zulaica, Morris Freedman, Myriam Barandiaran, Nuria Bargalló, Olivia Wagemann, Olivier Colliot, Paola Caroppo, Patricia Alves, Paul Thompson, Pedro Rosa-Neto, Philip Van Damme, Pietro Tiraboschi, Rachelle Shafei, Rhian S. Convery, Rick van Minkelen, Robart Bartha, Roberto Gasparotti, Ron Keren, Rosa Rademakers, Rose Bruffaerts, Sabrina Sayah, Sandra Black, Sandra Loosli, Sara Mitchell, Sara Prioni, Sarah Anderl-Straub, Serge Gauthier, Sónia Afonso, Sonja Schönecker, Stefano Gazzina, Thibaud Lebouvier, Thomas Cope, Timothy Rittman, Tobias Hoegen, Valentina Bessi, Valentina Cantoni, Veronica Redaelli, Vesna Jelic, Vincent Deramecourt, Vittoria Borracci
Journal of Neurology, 2023
Corrigendum: PMCA-based detection of prions in the olfactory mucosa of patients with sporadic Creutzfeldt–Jakob disease(Front. Aging Neurosci., (2022), 14, (848991), 10.3389/fnagi.2022.848991)
Federico Angelo Cazzaniga, Edoardo Bistaffa, Chiara Maria Giulia De Luca, Sara Maria Portaleone, Marcella Catania, Veronica Redaelli, Irene Tramacere, Giuseppe Bufano, Martina Rossi, Paola Caroppo, Anna Rita Giovagnoli, Pietro Tiraboschi, Giuseppe Di Fede, Roberto Eleopra, Grazia Devigili, Antonio Emanuele Elia, Roberto Cilia, Michele Fiorini, Matilde Bongianni, Giulia Salzano, Luigi Celauro, Federico Giuseppe Quarta, Angela Mammana, Giuseppe Legname, Fabrizio Tagliavini, Piero Parchi, Gianluigi Zanusso, Giorgio Giaccone, Fabio Moda
Frontiers in Aging Neuroscience, 2023
Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: Findings from the GENetic Frontotemporal dementia Initiative cohort
Martina Bocchetta, Emily G Todd, Arabella Bouzigues, David M Cash, Jennifer M Nicholas, Rhian S Convery, Lucy L Russell, David L Thomas, Ian B Malone, Juan Eugenio Iglesias, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Alexandre de Mendonça, Isabel Santana, Chris R Butler, Simon Ducharme, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Jonathan D Rohrer, , Aitana Sogorb Esteve, Annabel Nelson, Carolin Heller, Caroline V Greaves, Hanya Benotmane, Henrik Zetterberg, Imogen J Swift, Kiran Samra, Rachelle Shafei, Carolyn Timberlake, Thomas Cope, Timothy Rittman, Alberto Benussi, Enrico Premi, Roberto Gasparotti, Silvana Archetti, Stefano Gazzina, Valentina Cantoni, Andrea Arighi, Chiara Fenoglio, Elio Scarpini, Giorgio Fumagalli, Vittoria Borracci, Giacomina Rossi, Giorgio Giaccone, Giuseppe Di Fede, Paola Caroppo, Pietro Tiraboschi, Sara Prioni, Veronica Redaelli, David Tang-Wai, Ekaterina Rogaeva, Miguel Castelo-Branco, Morris Freedman, Ron Keren, Sandra Black, Sara Mitchell, Christen Shoesmith, Robart Bartha, Rosa Rademakers, Jackie Poos, Janne M Papma, Lucia Giannini, Rick van Minkelen, Yolande Pijnenburg, Benedetta Nacmias, Camilla Ferrari, Cristina Polito, Gemma Lombardi, Valentina Bessi, Michele Veldsman, Christin Andersson, Hakan Thonberg, Linn Öijerstedt, Vesna Jelic, Paul Thompson, Tobias Langheinrich, Albert Lladó, Anna Antonell, Jaume Olives, Mircea Balasa, Nuria Bargalló, Sergi Borrego-Ecija, Ana Verdelho, Carolina Maruta, Catarina B Ferreira, Gabriel Miltenberger, Frederico Simões do Couto, Alazne Gabilondo, Ana Gorostidi, Jorge Villanua, Marta Cañada, Mikel Tainta, Miren Zulaica, Myriam Barandiaran, Patricia Alves, Benjamin Bender, Carlo Wilke, Lisa Graf, Annick Vogels, Mathieu Vandenbulcke, Philip Van Damme, Rose Bruffaerts, Koen Poesen, Pedro Rosa-Neto, Serge Gauthier, Agnès Camuzat, Alexis Brice, Anne Bertrand, Aurélie Funkiewiez, Daisy Rinaldi, Dario Saracino, Olivier Colliot, Sabrina Sayah, Catharina Prix, Elisabeth Wlasich, Olivia Wagemann, Sandra Loosli, Sonja Schönecker, Tobias Hoegen, Jolina Lombardi, Sarah Anderl-Straub, Adeline Rollin, Gregory Kuchcinski, Maxime Bertoux, Thibaud Lebouvier, Vincent Deramecourt, Beatriz Santiago, Diana Duro, Maria João Leitão, Maria Rosario Almeida, Miguel Tábuas-Pereira, Sónia Afonso
Brain Communications, 2023
Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia
Golia Shafiei, Vincent Bazinet, Mahsa Dadar, Ana L Manera, D Louis Collins, Alain Dagher, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Chris Butler, Alex Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Lize C Jiskoot, Harro Seelaar, John C van Swieten, Jonathan D Rohrer, Bratislav Misic, Simon Ducharme, , Howard Rosen, Bradford C Dickerson, Kimoko Domoto-Reilly, David Knopman, Bradley F Boeve, Adam L Boxer, John Kornak, Bruce L Miller, William W Seeley, Maria-Luisa Gorno-Tempini, Scott McGinnis, Maria Luisa Mandelli, , Aitana Sogorb Esteve, Annabel Nelson, Arabella Bouzigues, Carolin Heller, Caroline V Greaves, David Cash, David L Thomas, Emily Todd, Hanya Benotmane, Henrik Zetterberg, Imogen J Swift, Jennifer Nicholas, Kiran Samra, Lucy L Russell, Martina Bocchetta, Rachelle Shafei, Rhian S Convery, Carolyn Timberlake, Thomas Cope, Timothy Rittman, Alberto Benussi, Enrico Premi, Roberto Gasparotti, Silvana Archetti, Stefano Gazzina, Valentina Cantoni, Andrea Arighi, Chiara Fenoglio, Elio Scarpini, Giorgio Fumagalli, Vittoria Borracci, Giacomina Rossi, Giorgio Giaccone, Giuseppe Di Fede, Paola Caroppo, Pietro Tiraboschi, Sara Prioni, Veronica Redaelli, David Tang-Wai, Ekaterina Rogaeva, Miguel Castelo-Branco, Morris Freedman, Ron Keren, Sandra Black, Sara Mitchell, Christen Shoesmith, Robart Bartha, Rosa Rademakers, Emma van der Ende, Jackie Poos, Janne M Papma, Lucia Giannini, Rick van Minkelen, Yolande Pijnenburg, Benedetta Nacmias, Camilla Ferrari, Cristina Polito, Gemma Lombardi, Valentina Bessi, Michele Veldsman, Christin Andersson, Hakan Thonberg, Linn Öijerstedt, Vesna Jelic, Paul Thompson, Tobias Langheinrich, Albert Lladó, Anna Antonell, Jaume Olives, Mircea Balasa, Nuria Bargalló, Sergi Borrego-Ecija, Ana Verdelho, Carolina Maruta, Catarina B Ferreira, Gabriel Miltenberger, Frederico Simões do Couto, Alazne Gabilondo, Ana Gorostidi, Jorge Villanua, Marta Cañada, Mikel Tainta, Miren Zulaica, Myriam Barandiaran, Patricia Alves, Benjamin Bender, Carlo Wilke, Lisa Graf, Annick Vogels, Mathieu Vandenbulcke, Philip Van Damme, Rose Bruffaerts, Pedro Rosa-Neto, Serge Gauthier, Agnès Camuzat, Alexis Brice, Anne Bertrand, Aurélie Funkiewiez, Daisy Rinaldi, Dario Saracino, Olivier Colliot, Sabrina Sayah, Catharina Prix, Elisabeth Wlasich, Olivia Wagemann, Sandra Loosli, Sonja Schönecker, Tobias Hoegen, Jolina Lombardi, Sarah Anderl-Straub, Adeline Rollin, Gregory Kuchcinski, Maxime Bertoux, Thibaud Lebouvier, Vincent Deramecourt, Beatriz Santiago, Diana Duro, Maria João Leitão, Maria Rosario Almeida, Miguel Tábuas-Pereira, Sónia Afonso, Annerose Engel, Maryna Polyakova
Brain, 2023
Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort
Giacomina Rossi, Erika Salvi, Elkadia Mehmeti, Martina Ricci, Cristina Villa, Sara Prioni, Fabio Moda, Giuseppe Di Fede, Pietro Tiraboschi, Veronica Redaelli, Cinzia Coppola, Giacomo Koch, Elisa Canu, Massimo Filippi, Federica Agosta, Giorgio Giaccone, Paola Caroppo
Frontiers in Aging Neuroscience, 2022
Disclosure of Genetic Risk Factors for Alzheimer’s Disease to Cognitively Healthy Individuals—From Current Practice towards a Personalised Medicine Scenario
Samantha Galluzzi, Michela Pievani, Orazio Zanetti, Luisa Benussi, , Giovanni B. Frisoni, Emilio Di Maria
Biomedicines, 2022
Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia
Aitana Sogorb-Esteve, Johanna Nilsson, Imogen J. Swift, Carolin Heller, Martina Bocchetta, Lucy L. Russell, Georgia Peakman, Rhian S. Convery, John C. van Swieten, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Isabel Santana, Chris R. Butler, Simon Ducharme, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Johan Gobom, Ann Brinkmalm, Kaj Blennow, Henrik Zetterberg, Jonathan D. Rohrer, , Annabel Nelson, Arabella Bouzigues, Caroline V Greaves, David Cash, David L Thomas, Emily Todd, Hanya Benotmane, Jennifer Nicholas, Kiran Samra, Rachelle Shafei, Carolyn Timberlake, Thomas Cope, Timothy Rittman, Alberto Benussi, Enrico Premi, Roberto Gasparotti, Silvana Archetti, Stefano Gazzina, Valentina Cantoni, Andrea Arighi, Chiara Fenoglio, Elio Scarpini, Giorgio Fumagalli, Vittoria Borracci, Giacomina Rossi, Giorgio Giaccone, Giuseppe Di Fede, Paola Caroppo, Pietro Tiraboschi, Sara Prioni, Veronica Redaelli, David Tang-Wai, Ekaterina Rogaeva, Miguel Castelo-Branco, Morris Freedman, Ron Keren, Sandra Black, Sara Mitchell, Christen Shoesmith, Robart Bartha, Rosa Rademakers, Jackie Poos, Janne M. Papma, Lucia Giannini, Rick van Minkelen, Yolande Pijnenburg, Benedetta Nacmias, Camilla Ferrari, Cristina Polito, Gemma Lombardi, Valentina Bessi, Michele Veldsman, Christin Andersson, Hakan Thonberg, Linn Öijerstedt, Vesna Jelic, Paul Thompson, Tobias Langheinrich, Albert Lladó, Anna Antonell, Jaume Olives, Mircea Balasa, Nuria Bargalló, Sergi Borrego-Ecija, Alexandre de Mendonça, Ana Verdelho, Carolina Maruta, Catarina B. Ferreira, Gabriel Miltenberger, Frederico Simões do Couto, Alazne Gabilondo, Ana Gorostidi, Jorge Villanua, Marta Cañada, Mikel Tainta, Miren Zulaica, Myriam Barandiaran, Patricia Alves, Benjamin Bender, Carlo Wilke, Lisa Graf, Annick Vogels, Mathieu Vandenbulcke, Philip Van Damme, Rose Bruffaerts, Koen Poesen, Pedro Rosa-Neto, Serge Gauthier, Agnès Camuzat, Alexis Brice, Anne Bertrand, Aurélie Funkiewiez, Daisy Rinaldi, Dario Saracino, Olivier Colliot, Sabrina Sayah, Catharina Prix, Elisabeth Wlasich, Olivia Wagemann, Sandra Loosli, Sonja Schönecker, Tobias Hoegen, Jolina Lombardi, Sarah Anderl-Straub, Adeline Rollin, Gregory Kuchcinski, Maxime Bertoux, Thibaud Lebouvier, Vincent Deramecourt, Beatriz Santiago, Diana Duro, Maria João Leitão, Maria Rosario Almeida, Miguel Tábuas-Pereira, Sónia Afonso
Alzheimer S Research and Therapy, 2022
Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study
Emma L. van der Ende, Carolin Heller, Aitana Sogorb-Esteve, Imogen J. Swift, David McFall, Georgia Peakman, Arabella Bouzigues, Jackie M. Poos, Lize C. Jiskoot, Jessica L. Panman, Janne M. Papma, Lieke H. Meeter, Elise G. P. Dopper, Martina Bocchetta, Emily Todd, David Cash, Caroline Graff, Matthis Synofzik, Fermin Moreno, Elizabeth Finger, Raquel Sanchez-Valle, Rik Vandenberghe, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Chris Butler, Simon Ducharme, Alexander Gerhard, Adrian Danek, Johannes Levin, Yolande A. L. Pijnenburg, Markus Otto, Barbara Borroni, Fabrizio Tagliavini, Alexandre de Mendonça, Isabel Santana, Daniela Galimberti, Sandro Sorbi, Henrik Zetterberg, Eric Huang, John C. van Swieten, Jonathan D. Rohrer, Harro Seelaar, , Sónia Afonso, Maria Rosario Almeida, Sarah Anderl-Straub, Christin Andersson, Anna Antonell, Silvana Archetti, Andrea Arighi, Mircea Balasa, Myriam Barandiaran, Nuria Bargalló, Robart Bartha, Benjamin Bender, Alberto Benussi, Luisa Benussi, Valentina Bessi, Giuliano Binetti, Sandra Black, Martina Bocchetta, Sergi Borrego-Ecija, Jose Bras, Rose Bruffaerts, Marta Cañada, Valentina Cantoni, Paola Caroppo, David Cash, Miguel Castelo-Branco, Rhian Convery, Thomas Cope, Giuseppe Di Fede, Alina Díez, Diana Duro, Chiara Fenoglio, Camilla Ferrari, Catarina B. Ferreira, Nick Fox, Morris Freedman, Giorgio Fumagalli, Alazne Gabilondo, Roberto Gasparotti, Serge Gauthier, Stefano Gazzina, Giorgio Giaccone, Ana Gorostidi, Caroline Greaves, Rita Guerreiro, Tobias Hoegen, Begoña Indakoetxea, Vesna Jelic, Hans-Otto Karnath, Ron Keren, Tobias Langheinrich, Maria João Leitão, Albert Lladó, Gemma Lombardi, Sandra Loosli, Carolina Maruta, Simon Mead, Gabriel Miltenberger, Rick van Minkelen, Sara Mitchell, Katrina Moore, Benedetta Nacmias, Jennifer Nicholas, Linn Öijerstedt, Jaume Olives, Sebastien Ourselin, Alessandro Padovani, Georgia Peakman, Michela Pievani, Cristina Polito, Enrico Premi, Sara Prioni, Catharina Prix, Rosa Rademakers, Veronica Redaelli, Tim Rittman, Ekaterina Rogaeva, Pedro Rosa-Neto, Giacomina Rossi, Martin Rosser, Beatriz Santiago, Elio Scarpini, Sonja Schönecker, Elisa Semler, Rachelle Shafei, Christen Shoesmith, Miguel Tábuas-Pereira, Mikel Tainta, Ricardo Taipa, David Tang-Wai, David L. Thomas, Paul Thompson, Hakan Thonberg, Carolyn Timberlake, Pietro Tiraboschi, Emily Todd, Philip Van Damme, Mathieu Vandenbulcke, Michele Veldsman, Ana Verdelho, Jorge Villanua, Jason Warren, Carlo Wilke, Ione Woollacott, Elisabeth Wlasich, Miren Zulaica
Journal of Neuroinflammation, 2022
Cognitive composites for genetic frontotemporal dementia: GENFI-Cog
Jackie M. Poos, Katrina M. Moore, Jennifer Nicholas, Lucy L. Russell, Georgia Peakman, Rhian S. Convery, Lize C. Jiskoot, Emma van der Ende, Esther van den Berg, Janne M. Papma, Harro Seelaar, Yolande A. L. Pijnenburg, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Carmela Tartaglia, Caroline Graff, Daniela Galimberti, James B. Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tiraboschi, Isabel Santana, Simon Ducharme, Chris Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Isabel Le Ber, Florence Pasquier, John C. van Swieten, Jonathan D. Rohrer, , Arabella Bouzigues, Martin N. Rossor, Nick C. Fox, Jason D. Warren, Martina Bocchetta, Imogen J. Swift, Rachelle Shafei, Carolin Heller, Emily Todd, David Cash, Ione Woollacott, Henrik Zetterberg, Annabel Nelson, Rita Guerreiro, Jose Bras, David L. Thomas, Simon Mead, Lieke Meeter, Jessica Panman, Rick van Minkelen, Myriam Barandiaran, Begoña Indakoetxea, Alazne Gabilondo, Mikel Tainta, Ana Gorostidi, Miren Zulaica, Alina Díez, Jorge Villanua, Sergi Borrego-Ecija, Jaume Olives, Albert Lladó, Mircea Balasa, Anna Antonell, Nuria Bargallo, Enrico Premi, Stefano Gazzina, Roberto Gasparotti, Silvana Archetti, Sandra Black, Sara Mitchell, Ekaterina Rogaeva, Morris Freedman, Ron Keren, David Tang-Wai, Hakan Thonberg, Linn Öijerstedt, Christin Andersson, Vesna Jelic, Andrea Arighi, Chiara Fenoglio, Elio Scarpini, Giorgio Fumagalli, Thomas Cope, Carolyn Timberlake, Timothy Rittman, Christen Shoesmith, Robart Bartha, Rosa Rademakers, Carlo Wilke, Hans-Otto Karnarth, Benjamin Bender, Rose Bruffaerts, Philip Vandamme, Mathieu Vandenbulcke, Catarina B. Ferreira, Gabriel Miltenberger, Carolina Maruta, Ana Verdelho, Sónia Afonso, Ricardo Taipa, Paola Caroppo, Giuseppe Di Fede, Giorgio Giaccone, Sara Prioni, Veronica Redaelli, Giacomina Rossi, Diana Duro, Maria Rosario Almeida, Miguel Castelo-Branco, Maria João Leitão, Miguel Tabuas-Pereira, Beatriz Santiago, Serge Gauthier, Pedro Rosa-Neto, Michele Veldsman, Paul Thompson, Tobias Langheinrich, Catharina Prix, Tobias Hoegen, Elisabeth Wlasich, Sandra Loosli, Sonja Schonecker, Sarah Anderl-Straub, Jolina Lombardi, Nuria Bargalló, Alberto Benussi, Valentina Cantoni, Maxime Bertoux, Anne Bertrand, Alexis Brice, Agnès Camuzat, Olivier Colliot, Sabrina Sayah, Aurélie Funkiewiez, Daisy Rinaldi, Gemma Lombardi, Benedetta Nacmias, Dario Saracino, Valentina Bessi, Camilla Ferrari, Marta Cañada, Vincent Deramecourt, Gregory Kuchcinski, Thibaud Lebouvier, Sebastien Ourselin, Cristina Polito, Adeline Rollin
Alzheimer S Research and Therapy, 2022
CSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia
Ione O. C. Woollacott, Imogen J. Swift, Aitana Sogorb‐Esteve, Carolin Heller, Kathryn Knowles, Arabella Bouzigues, Lucy L. Russell, Georgia Peakman, Caroline V. Greaves, Rhian Convery, Amanda Heslegrave, James B. Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, John C. van Swieten, Harro Seelaar, Lize Jiskoot, Sandro Sorbi, Chris R. Butler, Caroline Graff, Alexander Gerhard, Robert Laforce, Raquel Sanchez‐Valle, Alexandre de Mendonça, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Markus Otto, Florence Pasquier, Isabel Santana, Henrik Zetterberg, Jonathan D. Rohrer, and
Annals of Clinical and Translational Neurology, 2022
Temporal order of clinical and biomarker changes in familial frontotemporal dementia
Adam M. Staffaroni, Melanie Quintana, Barbara Wendelberger, Hilary W. Heuer, Lucy L. Russell, Yann Cobigo, Amy Wolf, Sheng-Yang Matt Goh, Leonard Petrucelli, Tania F. Gendron, Carolin Heller, Annie L. Clark, Jack Carson Taylor, Amy Wise, Elise Ong, Leah Forsberg, Danielle Brushaber, Julio C. Rojas, Lawren VandeVrede, Peter Ljubenkov, Joel Kramer, Kaitlin B. Casaletto, Brian Appleby, Yvette Bordelon, Hugo Botha, Bradford C. Dickerson, Kimiko Domoto-Reilly, Julie A. Fields, Tatiana Foroud, Ralitza Gavrilova, Daniel Geschwind, Nupur Ghoshal, Jill Goldman, Jonathon Graff-Radford, Neill Graff-Radford, Murray Grossman, Matthew G. H. Hall, Ging-Yuek Hsiung, Edward D. Huey, David Irwin, David T. Jones, Kejal Kantarci, Daniel Kaufer, David Knopman, Walter Kremers, Argentina Lario Lago, Maria I. Lapid, Irene Litvan, Diane Lucente, Ian R. Mackenzie, Mario F. Mendez, Carly Mester, Bruce L. Miller, Chiadi U. Onyike, Rosa Rademakers, Vijay K. Ramanan, Eliana Marisa Ramos, Meghana Rao, Katya Rascovsky, Katherine P. Rankin, Erik D. Roberson, Rodolfo Savica, M. Carmela Tartaglia, Sandra Weintraub, Bonnie Wong, David M. Cash, Arabella Bouzigues, Imogen J. Swift, Georgia Peakman, Martina Bocchetta, Emily G. Todd, Rhian S. Convery, James B. Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Elizabeth Finger, John C. van Swieten, Harro Seelaar, Lize C. Jiskoot, Sandro Sorbi, Chris R. Butler, Caroline Graff, Alexander Gerhard, Tobias Langheinrich, Robert Laforce, Raquel Sanchez-Valle, Alexandre de Mendonça, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Adrian Danek, Markus Otto, Florence Pasquier, Isabel Santana, John Kornak, Bradley F. Boeve, Howard J. Rosen, Jonathan D. Rohrer, Adam. L. Boxer, , , Liana Apostolova, Sami Barmada, Bradley Boeve, Adam L. Boxer, Andrea Bozoki, David Clark, Giovanni Coppola, Ryan Darby, Dennis Dickson, Kelley Faber, Anne Fagan, Douglas R. Galasko, Ian M. Grant, Eric Huang, Diana Kerwin, Maria Lapid, Suzee Lee, Gabriel Leger, Joseph C. Masdeux, Scott McGinnis, Mario Mendez, Chiadi Onyike, M. Belen Pascual, Peter Pressman, Rosa Rademakers, Vijay Ramanan, Aaron Ritter, William W. Seeley, Jeremy Syrjanen, Jack C. Taylor, Sandra Weintraub, , Aitana Sogorb Esteve, Annabel Nelson, Caroline V. Greaves, David L. Thomas, Hanya Benotmane, Henrik Zetterberg, Jennifer Nicholas, Kiran Samra, Rachelle Shafei, Carolyn Timberlake, Thomas Cope, Timothy Rittman, Alberto Benussi, Enrico Premi, Roberto Gasparotti, Silvana Archetti, Stefano Gazzina, Valentina Cantoni, Andrea Arighi, Chiara Fenoglio, Elio Scarpini, Giorgio Fumagalli, Vittoria Borracci, Giacomina Rossi, Giorgio Giaccone, Giuseppe Di Fede, Paola Caroppo, Sara Prioni, Veronica Redaelli, David Tang-Wai, Ekaterina Rogaeva, Miguel Castelo-Branco, Morris Freedman, Ron Keren, Sandra Black, Sara Mitchell, Christen Shoesmith, Robart Bartha, Jackie Poos, Janne M. Papma, Lucia Giannini, Rick van Minkelen, Yolande Pijnenburg, Benedetta Nacmias, Camilla Ferrari, Cristina Polito, Gemma Lombardi, Valentina Bessi, Michele Veldsman, Christin Andersson, Hakan Thonberg, Linn Öijerstedt, Vesna Jelic, Paul Thompson, Albert Lladó, Anna Antonell, Jaume Olives, Mircea Balasa, Nuria Bargalló, Sergi Borrego-Ecija, Ana Verdelho, Carolina Maruta, Catarina B. Ferreira, Gabriel Miltenberger, Frederico Simões do Couto, Alazne Gabilondo, Ana Gorostidi, Jorge Villanua, Marta Cañada, Mikel Tainta, Miren Zulaica, Myriam Barandiaran, Patricia Alves, Benjamin Bender, Carlo Wilke, Lisa Graf, Annick Vogels, Mathieu Vandenbulcke, Philip Van Damme, Rose Bruffaerts, Koen Poesen, Pedro Rosa-Neto, Serge Gauthier, Agnès Camuzat, Alexis Brice, Anne Bertrand, Aurélie Funkiewiez, Daisy Rinaldi, Dario Saracino, Olivier Colliot, Sabrina Sayah, Catharina Prix, Elisabeth Wlasich, Olivia Wagemann, Sandra Loosli, Sonja Schönecker, Tobias Hoegen, Jolina Lombardi, Sarah Anderl-Straub, Adeline Rollin, Gregory Kuchcinski, Maxime Bertoux, Thibaud Lebouvier, Vincent Deramecourt, Beatriz Santiago, Diana Duro, Maria João Leitão, Maria Rosario Almeida, Miguel Tábuas-Pereira, Sónia Afonso
Nature Medicine, 2022
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations
Arabella Bouzigues, Lucy L. Russell, Georgia Peakman, Martina Bocchetta, Caroline V. Greaves, Rhian S. Convery, Emily Todd, James B. Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, John C. van Swieten, Harro Seelaar, Lize Jiskoot, Sandro Sorbi, Chris R. Butler, Caroline Graff, Alexander Gerhard, Tobias Langheinrich, Robert Laforce, Raquel Sanchez-Valle, Alexandre de Mendonça, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Adrian Danek, Markus Otto, Florence Pasquier, Isabel Santana, Jonathan D. Rohrer, , Aitana Sogorb Esteve, Annabel Nelson, Arabella Bouzigues, Carolin Heller, Caroline V Greaves, David Cash, David L Thomas, Emily Todd, Hanya Benotmane, Henrik Zetterberg, Imogen J Swift, Jennifer Nicholas, Kiran Samra, Lucy L Russell, Martina Bocchetta, Rachelle Shafei, Rhian S Convery, Carolyn Timberlake, Thomas Cope, Timothy Rittman, Alberto Benussi, Enrico Premi, Roberto Gasparotti, Silvana Archetti, Stefano Gazzina, Valentina Cantoni, Andrea Arighi, Chiara Fenoglio, Elio Scarpini, Giorgio Fumagalli, Vittoria Borracci, Giacomina Rossi, Giorgio Giaccone, Paola Caroppo, Pietro Tiraboschi, Sara Prioni, Veronica Redaelli, David Tang-Wai, Ekaterina Rogaeva, Miguel Castelo-Branco, Ron Keren, Sandra Black, Sara Mitchell, Christen Shoesmith, Robart Bartha, Rosa Rademakers, Jackie Poos, Janne M Papma, Lucia Giannini, Rick Minkelen, Yolande Pijnenburg, Benedetta Nacmias, Camilla Ferrari, Cristina Polito, Gemma Lombardi, Valentina Bessi, Michele Veldsman, Christin Andersson, Hakan Thonberg, Linn Öijerstedt, Vesna Jelic, Paul Thompson, Tobias Langheinrich, Albert Lladó, Anna Antonell, Jaume Olives, Mircea Balasa, Nuria Bargalló, Sergi Borrego-Ecija, Ana Verdelho, Carolina Maruta, Catarina B Ferreira, Gabriel Miltenberger, Frederico Simões do Couto, Alazne Gabilondo, Ana Gorostidi, Jorge Villanua, Marta Cañada, Mikel Tainta, Miren Zulaica, Myriam Barandiaran, Patricia Alves, Benjamin Bender, Carlo Wilke, Lisa Graf, Annick Vogels, Mathieu Vandenbulcke, Philip Van Damme, Rose Bruffaerts, Koen Poesen, Pedro Rosa-Neto, Serge Gauthier, Agnès Camuzat, Alexis Brice, Anne Bertrand, Aurélie Funkiewiez, Daisy Rinaldi, Dario Saracino, Olivier Colliot, Sabrina Sayah, Catharina Prix, Elisabeth Wlasich, Olivia Wagemann, Sandra Loosli, Sonja Schönecker, Tobias Hoegen, Jolina Lombardi, Sarah Anderl-Straub, Adeline Rollin, Gregory Kuchcinski, Maxime Bertoux, Thibaud Lebouvier, Vincent Deramecourt, Beatriz Santiago, Diana Duro, Maria João Leitão, Maria Rosario Almeida, Miguel Tábuas-Pereira, Sónia Afonso, Annerose Engel, Maryna Polyakova
Journal of Neurology, 2022
Superficial siderosis in long-standing pilocytic astrocytoma
Alessandra Erbetta, Filippo Savoldi, Valentina Opancina, Gianluca Marucci, Marco Schiariti, Veronica Redaelli, Elisa F. M. Ciceri, Luisa Chiapparini
Neurological Sciences, 2022
Conceptual framework for the definition of preclinical and prodromal frontotemporal dementia
Alberto Benussi, Antonella Alberici, Kiran Samra, Lucy L. Russell, Caroline V. Greaves, Martina Bocchetta, Simon Ducharme, Elizabeth Finger, Giorgio Fumagalli, Daniela Galimberti, Lize C. Jiskoot, Isabelle Le Ber, Mario Masellis, Benedetta Nacmias, James B. Rowe, Raquel Sanchez‐Valle, Harro Seelaar, Matthis Synofzik, , Jonathan D. Rohrer, Barbara Borroni
Alzheimer S and Dementia, 2022
Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort
Phoebe H. Foster, Lucy L. Russell, Georgia Peakman, Rhian S. Convery, Arabella Bouzigues, Caroline V. Greaves, Martina Bocchetta, David M. Cash, John C. van Swieten, Lize C. Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R. Butler, Alex Gerhard, Simon Ducharme, Isabelle Le Ber, Fabrizio Tagliavini, Isabel Santana, Florence Pasquier, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Jonathan D. Rohrer, Sónia Afonso, Maria Rosario Almeida, Sarah Anderl-Straub, Christin Andersson, Anna Antonell, Silvana Archetti, Andrea Arighi, Mircea Balasa, Myriam Barandiaran, Nuria Bargalló, Robart Bartha, Benjamin Bender, Alberto Benussi, Maxime Bertoux, Anne Bertrand, Valentina Bessi, Sandra Black, Sergi Borrego-Ecija, Jose Bras, Alexis Brice, Rose Bruffaerts, Agnès Camuzat, Marta Cañada, Valentina Cantoni, Paola Caroppo, David Cash, Miguel Castelo-Branco, Olivier Colliot, Thomas Cope, Vincent Deramecourt, María de Arriba, Giuseppe Di Fede, Alina Díez, Diana Duro, Chiara Fenoglio, Camilla Ferrari, Catarina B. Ferreira, Nick Fox, Morris Freedman, Giorgio Fumagalli, Aurélie Funkiewiez, Alazne Gabilondo, Roberto Gasparotti, Serge Gauthier, Stefano Gazzina, Giorgio Giaccone, Ana Gorostidi, Caroline Greaves, Rita Guerreiro, Carolin Heller, Tobias Hoegen, Begoña Indakoetxea, Vesna Jelic, Hans-Otto Karnath, Ron Keren, Gregory Kuchcinski, Tobias Langheinrich, Thibaud Lebouvier, Maria João Leitão, Albert Lladó, Gemma Lombardi, Sandra Loosli, Carolina Maruta, Simon Mead, Lieke Meeter, Gabriel Miltenberger, Rick van Minkelen, Sara Mitchell, Katrina Moore, Benedetta Nacmias, Annabel Nelson, Linn Öijerstedt, Jaume Olives, Sebastien Ourselin, Alessandro Padovani, Jessica Panman, Janne M. Papma, Yolande Pijnenburg, Cristina Polito, Enrico Premi, Sara Prioni, Catharina Prix, Rosa Rademakers, Veronica Redaelli, Daisy Rinaldi, Tim Rittman, Ekaterina Rogaeva, Adeline Rollin, Pedro Rosa-Neto, Giacomina Rossi, Martin Rossor, Beatriz Santiago, Dario Saracino, Sabrina Sayah, Elio Scarpini, Sonja Schönecker, Harro Seelaar, Elisa Semler, Rachelle Shafei, Christen Shoesmith, Imogen Swift, Miguel Tábuas-Pereira, Mikel Tainta, Ricardo Taipa, David Tang-Wai, David L. Thomas, Paul Thompson, Hakan Thonberg, Carolyn Timberlake, Pietro Tiraboschi, Emily Todd, Philip Van Damme, Mathieu Vandenbulcke, Michele Veldsman, Ana Verdelho, Jorge Villanua, Jason Warren, Carlo Wilke, Ione Woollacott, Elisabeth Wlasich, Henrik Zetterberg, Miren Zulaica
Cortex, 2022
The CBI-R detects early behavioural impairment in genetic frontotemporal dementia
Annabel Nelson, Lucy L. Russell, Georgia Peakman, Rhian S. Convery, Arabella Bouzigues, Caroline V. Greaves, Martina Bocchetta, David M. Cash, John C. van Swieten, Lize Jiskoot, Fermin Moreno, Raquel Sanchez‐Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R. Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D. Rohrer, and
Annals of Clinical and Translational Neurology, 2022
A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia
Emma L van der Ende, Esther E Bron, Jackie M Poos, Lize C Jiskoot, Jessica L Panman, Janne M Papma, Lieke H Meeter, Elise G P Dopper, Carlo Wilke, Matthis Synofzik, Carolin Heller, Imogen J Swift, Aitana Sogorb-Esteve, Arabella Bouzigues, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Caroline Graff, Robert Laforce, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, James B Rowe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Christopher R Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Yolande A L Pijnenburg, Sandro Sorbi, Henrik Zetterberg, Wiro J Niessen, Jonathan D Rohrer, Stefan Klein, John C van Swieten, Vikram Venkatraghavan, Harro Seelaar, , Sónia Afonso, Maria Rosario Almeida, Sarah Anderl-Straub, Christin Andersson, Anna Antonell, Silvana Archetti, Andrea Arighi, Mircea Balasa, Myriam Barandiaran, Nuria Bargalló, Robart Bartha, Benjamin Bender, Alberto Benussi, Luisa Benussi, Valentina Bessi, Giuliano Binetti, Sandra Black, Martina Bocchetta, Sergi Borrego-Ecija, Jose Bras, Rose Bruffaerts, Marta Cañada, Valentina Cantoni, Paola Caroppo, David Cash, Miguel Castelo-Branco, Rhian Convery, Thomas Cope, Giuseppe Di Fede, Alina Díez, Diana Duro, Chiara Fenoglio, Camilla Ferrari, Catarina B Ferreira, Nick Fox, Morris Freedman, Giorgio Fumagalli, Alazne Gabilondo, Roberto Gasparotti, Serge Gauthier, Stefano Gazzina, Giorgio Giaccone, Ana Gorostidi, Caroline Greaves, Rita Guerreiro, Tobias Hoegen, Begoña Indakoetxea, Vesna Jelic, Hans-Otto Karnath, Ron Keren, Tobias Langheinrich, Maria João Leitão, Albert Lladó, Gemma Lombardi, Sandra Loosli, Carolina Maruta, Simon Mead, Gabriel Miltenberger, Rick van Minkelen, Sara Mitchell, Katrina Moore, Benedetta Nacmias, Jennifer Nicholas, Linn Öijerstedt, Jaume Olives, Sebastien Ourselin, Alessandro Padovani, Georgia Peakman, Michela Pievani, Yolande Pijnenburg, Cristina Polito, Enrico Premi, Sara Prioni, Catharina Prix, Rosa Rademakers, Veronica Redaelli, Tim Rittman, Ekaterina Rogaeva, Pedro Rosa-Neto, Giacomina Rossi, Martin Rosser, Beatriz Santiago, Elio Scarpini, Sonja Schönecker, Elisa Semler, Rachelle Shafei, Christen Shoesmith, Miguel Tábuas-Pereira, Mikel Tainta, Ricardo Taipa, David Tang-Wai, David L Thomas, Paul Thompson, Hakan Thonberg, Carolyn Timberlake, Pietro Tiraboschi, Emily Todd, Philip Van Damme, Mathieu Vandenbulcke, Michele Veldsman, Ana Verdelho, Jorge Villanua, Jason Warren, Ione Woollacott, Elisabeth Wlasich, Miren Zulaica
Brain, 2022
Data-driven staging of genetic frontotemporal dementia using multi-modal MRI
Jillian McCarthy, Barbara Borroni, Raquel Sanchez‐Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B. Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Chris Butler, Alex Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Giovanni Frisoni, Roberta Ghidoni, Sandro Sorbi, Lize C. Jiskoot, Harro Seelaar, John C. van Swieten, Jonathan D. Rohrer, Yasser Iturria‐Medina, Simon Ducharme, GENetic Frontotemporal Dementia Initiative (GENFI)
Human Brain Mapping, 2022
The novel I213S mutation in PSEN1 gene is located in a hotspot codon associated with familial early-onset Alzheimer's disease
Marcella Catania, Alessandro Marti, Giacomina Rossi, Anna Fioretti, Chiara Boiocchi, Martina Ricci, Federico Gasparini, Daniela Beltrami, Valeria Crepaldi, Veronica Redaelli, Giorgio Giaccone, Giuseppe Di Fede
Neurobiology of Aging, 2022
Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia
Samantha Galluzzi, Anna Mega, Giuseppe Di Fede, Cristina Muscio, Sara Fascendini, Luisa Benussi, Fabrizio Tagliavini, The Italian-DIAfN Working Group, Giovanni B. Frisoni, Emilio Di Maria
Alzheimer Disease and Associated Disorders, 2022
PMCA-Based Detection of Prions in the Olfactory Mucosa of Patients With Sporadic Creutzfeldt–Jakob Disease
Federico Angelo Cazzaniga, Edoardo Bistaffa, Chiara Maria Giulia De Luca, Sara Maria Portaleone, Marcella Catania, Veronica Redaelli, Irene Tramacere, Giuseppe Bufano, Martina Rossi, Paola Caroppo, Anna Rita Giovagnoli, Pietro Tiraboschi, Giuseppe Di Fede, Roberto Eleopra, Grazia Devigili, Antonio Emanuele Elia, Roberto Cilia, Michele Fiorini, Matilde Bongianni, Giulia Salzano, Luigi Celauro, Federico Giuseppe Quarta, Angela Mammana, Giuseppe Legname, Fabrizio Tagliavini, Piero Parchi, Gianluigi Zanusso, Giorgio Giaccone, Fabio Moda
Frontiers in Aging Neuroscience, 2022
Practice effects in genetic frontotemporal dementia and at-risk individuals: a GENFI study
Linn Öijerstedt, Christin Andersson, Vesna Jelic, John Cornelis van Swieten, Lize C Jiskoot, Harro Seelaar, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce Jr, Matthis Synofzik, Daniela Galimberti, James Benedict Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonca, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Christopher R Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Giovanni Frisoni, Roberta Ghidoni, Sandro Sorbi, Jonathan Daniel Rohrer, Caroline Graff
Journal of Neurology Neurosurgery and Psychiatry, 2022
Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort
Georgia Peakman, Lucy L Russell, Rhian S Convery, Jennifer M Nicholas, John C Van Swieten, Lize C Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R Butler, Alex Gerhard, Simon Ducharme, Isabelle Le Ber, Fabrizio Tagliavini, Isabel Santana, Florence Pasquier, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Jonathan D Rohrer
Journal of Neurology Neurosurgery and Psychiatry, 2022
Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement
Gianluigi Forloni, Ignazio Roiter, Vladimiro Artuso, Manuel Marcon, Walter Colesso, Elviana Luban, Ugo Lucca, Mauro Tettamanti, Elisabetta Pupillo, Veronica Redaelli, Francesco Mariuzzo, Giulia Boscolo Buleghin, Alice Mariuzzo, Fabrizio Tagliavini, Roberto Chiesa, Anna Ambrosini
Prion, 2022
Hierarchical spectral clustering reveals brain size and shape changes in asymptomatic carriers of C9orf72
Rose Bruffaerts, Dorothy Gors, Alicia Bárcenas Gallardo, Mathieu Vandenbulcke, Philip Van Damme, Paul Suetens, John C van Swieten, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Alexandre de Mendonça, Fabrizio Tagliavini, Chris R Butler, Isabel Santana, Alexander Gerhard, Simon Ducharme, Johannes Levin, Adrian Danek, Markus Otto, Jonathan D Rohrer, Patrick Dupont, Peter Claes, Rik Vandenberghe, Genetic Frontotemporal dementia Initiative (GENFI), Sónia Afonso, Maria Rosario Almeida, Sarah Anderl-Straub, Christin Andersson, Anna Antonell, Silvana Archetti, Andrea Arighi, Mircea Balasa, Myriam Barandiaran, Nuria Bargalló, Robart Bartha, Benjamin Bender, Alberto Benussi, Sandra Black, Martina Bocchetta, Sergi Borrego-Ecija, Jose Bras, Marta Canada, Valentina Cantoni, Paola Caroppo, David Cash, Miguel Castelo-Branco, Rhian Convery, Thomas Cope, Giuseppe Di Fede, Alina Díez, Diana Duro, Chiara Fenoglio, Catarina B Ferreira, Nick Fox, Morris Freedman, Giorgio Fumagalli, Alazne Gabilondo, Roberto Gasparotti, Serge Gauthier, Stefano Gazzina, Giorgio Giaccone, Ana Gorostidi, Caroline Greaves, Rita Guerreiro, Carolin Heller, Tobias Hoegen, Begoña Indakoetxea, Vesna Jelic, Lize Jiskoot, Hans-Otto Karnath, Ron Keren, Tobias Langheinrich, Maria João Leitão, Albert Lladó, Sandra Loosli, Carolina Maruta, Simon Mead, Lieke Meeter, Gabriel Miltenberger, Rick van Minkelen, Sara Mitchell, Katrina Moore, Jennifer Nicholas, Linn Öijerstedt, Jaume Olives, Sebastien Ourselin, Alessandro Padovani, Jessica Panman, Janne M Papma, Georgia Peakman, Yolande Pijnenburg, Enrico Premi, Sara Prioni, Catharina Prix, Rosa Rademakers, Veronica Redaelli, Tim Rittman, Ekaterina Rogaeva, Pedro Rosa-Neto, Giacomina Rossi, Mar tin Rossor, Beatriz Santiago, Elio Scarpini, Sonja Schönecker, Elisa Semler, Rachelle Shafei, Christen Shoesmith, Miguel Tábuas-Pereira, Mikel Tainta, Ricardo Taipa, David Tang-Wai, David L Thomas, Paul Thompson, Hakan Thonberg, Carolyn Timberlake, Pietro Tiraboschi, Emily Todd, Michele Veldsman, Ana Verdelho, Jorge Villanua, Jason Warren, Carlo Wilke, Ione Woollacott, Elisabeth Wlasich, Henrik Zetterberg, Miren Zulaica
Brain Communications, 2022
Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study
Carlo Wilke, Selina Reich, John C. van Swieten, Barbara Borroni, Raquel Sanchez‐Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Daniela Galimberti, James B. Rowe, Mario Masellis, Maria C. Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris R. Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Giovanni Frisoni, Roberta Ghidoni, Sandro Sorbi, Martina Bocchetta, Emily Todd, Jens Kuhle, Christian Barro, Genetic Frontotemporal dementia Initiative (GENFI), Jonathan D. Rohrer, Matthis Synofzik
Annals of Neurology, 2022
A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study
Sofia Bergström, Linn Öijerstedt, Julia Remnestål, Jennie Olofsson, Abbe Ullgren, Harro Seelaar, John C. van Swieten, Matthis Synofzik, Raquel Sanchez-Valle, Fermin Moreno, Elizabeth Finger, Mario Masellis, Carmela Tartaglia, Rik Vandenberghe, Robert Laforce, Daniela Galimberti, Barbara Borroni, Chris R. Butler, Alexander Gerhard, Simon Ducharme, Jonathan D. Rohrer, Anna Månberg, Caroline Graff, Peter Nilsson, on behalf of the Genetic Frontotemporal Dementia Initiative (GENFI), Lize Jiskoot, James B. Rowe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Isabelle Le Ber, Johannes Levin, Adrian Danek, Markus Otto, Giovanni Frisoni, Roberta Ghidoni, Sandro Sorbi, Florence Pasquier, Vesna Jelic, Christin Andersson, Sónia Afonso, Maria Rosario Almeida, Sarah Anderl-Straub, Anna Antonell, Silvana Archetti, Andrea Arighi, Mircea Balasa, Myriam Barandiaran, Nuria Bargalló, Robart Bartha, Benjamin Bender, Alberto Benussi, Luisa Benussi, Valentina Bessi, Giuliano Binetti, Sandra Black, Martina Bocchetta, Sergi Borrego-Ecija, Jose Bras, Rose Bruffaerts, Marta Cañada, Valentina Cantoni, Paola Caroppo, David Cash, Miguel Castelo-Branco, Rhian Convery, Thomas Cope, Giuseppe Di Fede, Alina Díez, Diana Duro, Chiara Fenoglio, Camilla Ferrari, Catarina B. Ferreira, Nick Fox, Morris Freedman, Giorgio Fumagalli, Alazne Gabilondo, Roberto Gasparotti, Serge Gauthier, Stefano Gazzina, Giorgio Giaccone, Ana Gorostidi, Caroline Greaves, Rita Guerreiro, Carolin Heller, Tobias Hoegen, Begoña Indakoetxea, Lize Jiskoot, Hans-Otto Karnath, Ron Keren, Tobias Langheinrich, Maria João Leitão, Albert Lladó, Gemma Lombardi, Sandra Loosli, Carolina Maruta, Simon Mead, Lieke Meeter, Gabriel Miltenberger, Rick van Minkelen, Sara Mitchell, Katrina Moore, Benedetta Nacmias, Jennifer Nicholas, Jaume Olives, Sebastien Ourselin, Alessandro Padovani, Jessica Panman, Janne M. Papma, Georgia Peakman, Michela Pievani, Yolande Pijnenburg, Cristina Polito, Enrico Premi, Sara Prioni, Catharina Prix, Rosa Rademakers, Veronica Redaelli, Tim Rittman, Ekaterina Rogaeva, Pedro Rosa-Neto, Giacomina Rossi, Martin Rosser, Beatriz Santiago, Elio Scarpini, Sonja Schönecker, Elisa Semler, Rachelle Shafei, Christen Shoesmith, Miguel Tábuas-Pereira, Mikel Tainta, Ricardo Taipa, David Tang-Wai, David L. Thomas, Paul Thompson, Håkan Thonberg, Carolyn Timberlake, Pietro Tiraboschi, Emily Todd, Philip Van Damme, Mathieu Vandenbulcke, Michele Veldsman, Ana Verdelho, Jorge Villanua, Jason Warren, Carlo Wilke, Ione Woollacott, Elisabeth Wlasich, Henrik Zetterberg, Miren Zulaica
Molecular Neurodegeneration, 2021
The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort
Hannah D. Franklin, Lucy L. Russell, Georgia Peakman, Caroline V. Greaves, Martina Bocchetta, Jennifer Nicholas, Jackie Poos, Rhian S. Convery, David M. Cash, John van Swieten, Lize Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Daniela Galimberti, James B. Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Jonathan D. Rohrer, on behalf of the Genetic FTD Initiative, GENFI, Sónia Afonso, Maria Rosario Almeida, Sarah Anderl-Straub, Christin Andersson, Anna Antonell, Silvana Archetti, Andrea Arighi, Mircea Balasa, Myriam Barandiaran, Nuria Bargalló, Robart Bartha, Benjamin Bender, Alberto Benussi, Maxime Bertoux, Anne Bertrand, Valentina Bessi, Sandra Black, Sergi Borrego-Ecija, Jose Bras, Alexis Brice, Rose Bruffaerts, Agnès Camuzat, Marta Cañada, Valentina Cantoni, Paola Caroppo, Miguel Castelo-Branco, Olivier Colliot, Thomas Cope, Vincent Deramecourt, María de Arriba, Giuseppe Di Fede, Alina Díez, Diana Duro, Chiara Fenoglio, Camilla Ferrari, Catarina B. Ferreira, Nick Fox, Morris Freedman, Giorgio Fumagalli, Aurélie Funkiewiez, Alazne Gabilondo, Roberto Gasparotti, Serge Gauthier, Stefano Gazzina, Giorgio Giaccone, Ana Gorostidi, Caroline Greaves, Rita Guerreiro, Carolin Heller, Tobias Hoegen, Begoña Indakoetxea, Vesna Jelic, Hans-Otto Karnath, Ron Keren, Gregory Kuchcinski, Tobias Langheinrich, Thibaud Lebouvier, Maria João Leitão, Albert Lladó, Gemma Lombardi, Sandra Loosli, Carolina Maruta, Simon Mead, Lieke Meeter, Gabriel Miltenberger, Rick van Minkelen, Sara Mitchell, Katrina Moore, Benedetta Nacmias, Annabel Nelson, Linn Öijerstedt, Jaume Olives, Sebastien Ourselin, Alessandro Padovani, Jessica Panman, Janne M. Papma, Yolande Pijnenburg, Cristina Polito, Enrico Premi, Sara Prioni, Catharina Prix, Rosa Rademakers, Veronica Redaelli, Daisy Rinaldi, Tim Rittman, Ekaterina Rogaeva, Adeline Rollin, Pedro Rosa-Neto, Giacomina Rossi, Martin Rossor, Beatriz Santiago, Dario Saracino, Sabrina Sayah, Elio Scarpini, Sonja Schönecker, Harro Seelaar, Elisa Semler, Rachelle Shafei, Christen Shoesmith, Imogen Swift, Miguel Tábuas-Pereira, Mikel Tainta, Ricardo Taipa, David Tang-Wai, David L. Thomas, Paul Thompson, Hakan Thonberg, Carolyn Timberlake, Pietro Tiraboschi, Emily Todd, Philip Van Damme, Mathieu Vandenbulcke, Michele Veldsman, Ana Verdelho, Jorge Villanua, Jason Warren, Carlo Wilke, Ione Woollacott, Elisabeth Wlasich, Henrik Zetterberg, Miren Zulaica
Alzheimer S Research and Therapy, 2021
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy
Davide Pareyson, , Chiara Pantaleoni, Roberto Eleopra, Giuseppe De Filippis, Isabella Moroni, Elena Freri, Federica Zibordi, Sara Bulgheroni, Emanuela Pagliano, Daniela Sarti, Antonio Silvani, Licia Grazzi, Pietro Tiraboschi, Giuseppe Didato, Elena Anghileri, Anna Bersano, Laura Valentini, Sylvie Piacentini, Cristina Muscio, Matilde Leonardi, Caterina Mariotti, Marica Eoli, Sara Nuzzo, Fabrizio Tagliavini, Paolo Confalonieri, Francesca De Giorgi
Neurological Sciences, 2021
MRI data-driven algorithm for the diagnosis of behavioural variant frontotemporal dementia
Ana L Manera, Mahsa Dadar, John Cornelis Van Swieten, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce Jr, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James Benedict Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonca, Fabrizio Tagliavini, Isabel Santana, Christopher R Butler, Alex Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Giovanni Frisoni, Roberta Ghidoni, Sandro Sorbi, Jonathan Daniel Rohrer, Simon Ducharme, D Louis Collins, FTLDNI investigators
Journal of Neurology Neurosurgery and Psychiatry, 2021
Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia
Jessica L Panman, Vikram Venkatraghavan, Emma L van der Ende, Rebecca M E Steketee, Lize C Jiskoot, Jackie M Poos, Elise G P Dopper, Lieke H H Meeter, Laura Donker Kaat, Serge A R B Rombouts, Meike W Vernooij, Anneke J A Kievit, Enrico Premi, Maura Cosseddu, Elisa Bonomi, Jaume Olives, Jonathan D Rohrer, Raquel Sánchez-Valle, Barbara Borroni, Esther E Bron, John C Van Swieten, Janne M Papma, Stefan Klein
Journal of Neurology Neurosurgery and Psychiatry, 2021
Being the Family Caregiver of a Patient With Dementia During the Coronavirus Disease 2019 Lockdown
Milena Zucca, Valeria Isella, Raffaele Di Lorenzo, Camillo Marra, Annachiara Cagnin, Chiara Cupidi, Laura Bonanni, Valentina Laganà, Elisa Rubino, Nicola Vanacore, Federica Agosta, Paolo Caffarra, Renato Sambati, Davide Quaranta, Valeria Guglielmi, Ildebrando M. Appollonio, Giancarlo Logroscino, Massimo Filippi, Gioacchino Tedeschi, Carlo Ferrarese, Innocenzo Rainero, Amalia C. Bruni, and
Frontiers in Aging Neuroscience, 2021
Brain functional network integrity sustains cognitive function despite atrophy in presymptomatic genetic frontotemporal dementia
Kamen A. Tsvetanov, Stefano Gazzina, P. Simon Jones, John van Swieten, Barbara Borroni, Raquel Sanchez‐Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris Butler, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Giovanni Frisoni, Roberta Ghidoni, Sandro Sorbi, Jonathan D. Rohrer, James B. Rowe, the Genetic FTD Initiative, GENFI
Alzheimer S and Dementia, 2021
The Impact of COVID-19 Quarantine on Patients With Dementia and Family Caregivers: A Nation-Wide Survey
Innocenzo Rainero, Amalia C. Bruni, Camillo Marra, Annachiara Cagnin, Laura Bonanni, Chiara Cupidi, Valentina Laganà, Elisa Rubino, Alessandro Vacca, Raffaele Di Lorenzo, Paolo Provero, Valeria Isella, Nicola Vanacore, Federica Agosta, Ildebrando Appollonio, Paolo Caffarra, Cinzia Bussè, Renato Sambati, Davide Quaranta, Valeria Guglielmi, Giancarlo Logroscino, Massimo Filippi, Gioacchino Tedeschi, Carlo Ferrarese, and
Frontiers in Aging Neuroscience, 2021
Neuropathological Alzheimer's Disease Lesions in Nasu-Hakola Disease with TREM2 Mutation: Atypical Distribution of Neurofibrillary Changes
Emanuela Maderna, Silvia Visonà, Vittorio Bolcato, Veronica Redaelli, Paola Caroppo, Lorenza Montalbetti, Giorgio Giaccone, Antonio Osculati
Journal of Alzheimer S Disease, 2021
Cerebral amyloid angiopathy in a 51-year-old patient with embolization by dura mater extract and surgery for nasopharyngeal angiofibroma at age 17
Paola Caroppo, Gianluca Marucci, Elio Maccagnano, Clara Luigia Gobbo, Ilaria Bizzozero, Pietro Tiraboschi, Veronica Redaelli, Marcella Catania, Giuseppe Di Fede, Luigi Caputi, Giorgio Giaccone
Amyloid, 2021
Disease-related cortical thinning in presymptomatic granulin mutation carriers
Sergi Borrego-Écija, Roser Sala-Llonch, John van Swieten, Barbara Borroni, Fermín Moreno, Mario Masellis, Carmela Tartaglia, Caroline Graff, Daniela Galimberti, Robert Laforce, James B Rowe, Elizabeth Finger, Rik Vandenberghe, Fabrizio Tagliavini, Alexandre de Mendonça, Isabel Santana, Matthis Synofzik, Simon Ducharme, Johannes Levin, Adrian Danek, Alex Gerhard, Markus Otto, Chris Butler, Giovanni Frisoni, Sandro Sorbi, Carolin Heller, Martina Bocchetta, David M Cash, Rhian S Convery, Katrina M Moore, Jonathan D Rohrer, Raquel Sanchez-Valle, Martin N. Rossor, Nick C. Fox, Ione O.C. Woollacott, Rachelle Shafei, Caroline Greaves, Mollie Neason, Rita Guerreiro, Jose Bras, David L. Thomas, Jennifer Nicholas, Simon Mead, Lieke Meeter, Jessica Panman, Janne Papma, Rick van Minkelen, Yolande Pijnenburg, Begoña Indakoetxea, Alazne Gabilondo, Mikel TaintaMD, Maria de Arriba, Ana Gorostidi, Miren Zulaica, Jorge Villanua, Zigor Diaz, Jaume Olives, Albert Lladó, Mircea Balasa, Anna Antonell, Nuria Bargallo, Enrico Premi, Maura Cosseddu, Stefano Gazzina, Alessandro Padovani, Roberto Gasparotti, Silvana Archetti, Sandra Black, Sara Mitchell, Ekaterina Rogaeva, Morris Freedman, Ron Keren, David Tang-Wai, Linn Öijerstedt, Christin Andersson, Vesna Jelic, Hakan Thonberg, Andrea Arighi, Chiara Fenoglio, Elio Scarpini MD, Giorgio Fumagalli, Thomas Cope, Carolyn Timberlake, Timothy Rittman, Christen Shoesmith, Robart Bartha, Rosa Rademakers, Carlo Wilke, Benjamin Bender, Rose Bruffaerts, Philip Vandamme, Mathieu Vandenbulcke, Carolina Maruta, Catarina B. Ferreira, Gabriel Miltenberger, Ana Verdelho, Sónia Afonso, Ricardo Taipa, Paola Caroppo, Giuseppe Di Fede, Giorgio Giaccone, Sara Prioni, Veronica Redaelli, Giacomina Rossi, Pietro Tiraboschi, Diana Duro, Maria Rosario Almeida, Miguel Castelo-Branco, Maria João Leitão, Miguel Tabuas-Pereira, Beatriz Santiago, Serge Gauthier, Pedro Rosa-Neto, Michele Veldsman, Toby Flanagan, Catharina Prix, Tobias Hoegen, Elisabeth Wlasich, Sandra Loosli, Sonja Schonecker, Elisa Semler, Sarah Anderl-Straub
Neuroimage Clinical, 2021
Differential early subcortical involvement in genetic FTD within the GENFI cohort
Martina Bocchetta, Emily G. Todd, Georgia Peakman, David M. Cash, Rhian S. Convery, Lucy L. Russell, David L. Thomas, Juan Eugenio Iglesias, John C. van Swieten, Lize C. Jiskoot, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Alexandre de Mendonça, Isabel Santana, Chris R. Butler, Simon Ducharme, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Jonathan D. Rohrer, Sónia Afonso, Maria Rosario Almeida, Sarah Anderl-Straub, Christin Andersson, Anna Antonell, Silvana Archetti, Andrea Arighi, Mircea Balasa, Myriam Barandiaran, Nuria Bargalló, Robart Bartha, Benjamin Bender, Alberto Benussi, Maxime Bertoux, Anne Bertrand, Valentina Bessi, Sandra Black, Sergi Borrego-Ecija, Jose Bras, Alexis Brice, Rose Bruffaerts, Agnès Camuzat, Marta Cañada, Valentina Cantoni, Paola Caroppo, Miguel Castelo-Branco, Olivier Colliot, Thomas Cope, Vincent Deramecourt, María de Arriba, Giuseppe Di Fede, Alina Díez, Diana Duro, Chiara Fenoglio, Camilla Ferrari, Catarina B. Ferreira, Nick Fox, Morris Freedman, Giorgio Fumagalli, Aurélie Funkiewiez, Alazne Gabilondo, Roberto Gasparotti, Serge Gauthier, Stefano Gazzina, Giorgio Giaccone, Ana Gorostidi, Caroline Greaves, Rita Guerreiro, Carolin Heller, Tobias Hoegen, Begoña Indakoetxea, Vesna Jelic, Hans-Otto Karnath, Ron Keren, Gregory Kuchcinski, Tobias Langheinrich, Thibaud Lebouvier, Maria João Leitão, Albert Lladó, Gemma Lombardi, Sandra Loosli, Carolina Maruta, Simon Mead, Lieke Meeter, Gabriel Miltenberger, Rick van Minkelen, Sara Mitchell, Katrina Moore, Benedetta Nacmias, Annabel Nelson, Jennifer Nicholas, Linn Öijerstedt, Jaume Olives, Sebastien Ourselin, Alessandro Padovani, Jessica Panman, Janne M. Papma, Yolande Pijnenburg, Cristina Polito, Enrico Premi, Sara Prioni, Catharina Prix, Rosa Rademakers, Veronica Redaelli, Daisy Rinaldi, Tim Rittman, Ekaterina Rogaeva, Adeline Rollin, Pedro Rosa-Neto, Giacomina Rossi, Martin Rossor, Beatriz Santiago, Dario Saracino, Sabrina Sayah, Elio Scarpini, Sonja Schönecker, Elisa Semler, Rachelle Shafei, Christen Shoesmith, Imogen Swift, Miguel Tábuas-Pereira, Mikel Tainta, Ricardo Taipa, David Tang-Wai, Paul Thompson, Hakan Thonberg, Carolyn Timberlake, Pietro Tiraboschi, Philip Van Damme, Mathieu Vandenbulcke, Michele Veldsman, Ana Verdelho, Jorge Villanua, Jason Warren, Carlo Wilke, Ione Woollacott, Elisabeth Wlasich, Henrik Zetterberg, Miren Zulaica
Neuroimage Clinical, 2021
Impairment of episodic memory in genetic frontotemporal dementia: A genfi study
Jackie M. Poos, Lucy L. Russell, Georgia Peakman, Martina Bocchetta, Caroline V. Greaves, Lize C. Jiskoot, Emma L. van der Ende, Harro Seelaar, Janne M. Papma, Esther van den Berg, Yolande A.L. Pijnenburg, Barbara Borroni, Raquel Sanchez‐Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthias Synofzik, Daniela Galimberti, James B. Rowe, Mario Masellis, Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Medonça, Fabrizio Tagliavini, Chris R. Butler, Isabel Santana, Isabelle Le Ber, Alex Gerhard, Simon Ducharme, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Florence Pasquier, John C. van Swieten, Jonathan D. Rohrer, the Genetic FTD Initiative, GENFI
Alzheimer S and Dementia Diagnosis Assessment and Disease Monitoring, 2021
Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients with Genetic Frontotemporal Dementia
Alberto Benussi, Enrico Premi, Stefano Gazzina, Chiara Brattini, Elisa Bonomi, Antonella Alberici, Lize Jiskoot, John C. van Swieten, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, Mario Masellis, Carmela Tartaglia, James B. Rowe, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris R. Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Giovanni Frisoni, Roberta Ghidoni, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Georgia Peakman, Emily Todd, Martina Bocchetta, Jonathan D. Rohrer, Barbara Borroni, Genetic FTD Initiative (GENFI), Sònia Afonso, Maria Rosario Almeida, Sarah Anderl-Straub, Christin Andersson, Anna Antonell, Silvana Archetti, Andrea Arighi, Mircea Balasa, Myriam Barandiaran, Nuria Bargallò, Robart Bartha, Benjamin Bender, Luisa Benussi, Maxime Bertoux, Anne Bertrand, Valentina Bessi, Giuliano Binetti, Sandra Black, Sergi Borrego-Ecija, Jose Bras, Alexis Brice, Rose Bruffaerts, Agnès Camuzat, Marta Cañada, Paola Caroppo, David Cash, Miguel Castelo-Branco, Olivier Colliot, Rhian Convery, Thomas Cope, Maura Cosseddu, Vincent Deramecourt, Marìa de Arriba, Giuseppe Di Fede, Alina Dìez, Diana Duro, Chiara Fenoglio, Camilla Ferrari, Catarina B Ferreira, Nick Fox, Morris Freedman, Giorgio Fumagalli, Aurélie Funkiewiez, Alazne Gabilondo, Roberto Gasparotti, Serge Gauthier, Stefano Gazzina, Giorgio Giaccone, Ana Gorostidi, Caroline Greaves, Rita Guerreiro, Carolin Heller, Tobias Hoegen, Begoña Indakoetxea, Vesna Jelic, Hans-Otto Karnath, Ron Keren, Gregory Kuchcinski, Tobias Langheinrich, Thibaud Lebouvier, Maria João Leitão, Albert Lladò, Gemma Lombardi, Sandra Loosli, Carolina Maruta, Simon Mead, Lieke Meeter, Gabriel Miltenberger, Rick van Minkelen, Sara Mitchell, Katrina Moore, Benedetta Nacmias, Jennifer Nicholas, Linn Öijerstedt, Jaume Olives, Sebastien Ourselin, Alessandro Padovani, Jessica Panman, Janne M Papma, Michela Pievani, Yolande Pijnenburg, Cristina Polito, Sara Prioni, Catharina Prix, Rosa Rademakers, Veronica Redaelli, Daisy Rinaldi, Tim Rittman, Ekaterina Rogaeva, Adeline Rollin, Pedro Rosa-Neto, Giacomina Rossi, Martin Rossor, Beatriz Santiago, Dario Saracino, Sabrina Sayah, Elio Scarpini, Sonja Schönecker, Harro Seelaar, Elisa Semler, Rachelle Shafei, Christen Shoesmith, Miguel Tábuas-Pereira, Mikel Tainta, Ricardo Taipa, David Tang-Wai, David L Thomas, Paul Thompson, Hakan Thonberg, Carolyn Timberlake, Pietro Tiraboschi, Emily Todd, Philip Van Damme, Mathieu Vandenbulcke, Michele Veldsman, Ana Verdelho, Jorge Villanua, Jason Warren, Carlo Wilke, Ione Woollacott, Elisabeth Wlasich, Henrik Zetterberg, Miren Zulaica
JAMA Network Open, 2021
Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort
Lucy L. Russell, Caroline V. Greaves, Martina Bocchetta, Jennifer Nicholas, Rhian S. Convery, Katrina Moore, David M. Cash, John van Swieten, Lize Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Emanuela Rotondo, Daniela Galimberti, James B. Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Jason D. Warren, Jonathan D. Rohrer, Martin N. Rossor, Nick C. Fox, Ione O.C. Woollacott, Rachelle Shafei, Carolin Heller, Rita Guerreiro, Jose Bras, David L. Thomas, Simon Mead, Lieke Meeter, Jessica Panman, Janne Papma, Jackie Poos, Rick van Minkelen, Yolanda Pijnenburg, Myriam Barandiaran, Begoña Indakoetxea, Alazne Gabilondo, Mikel Tainta, Maria de Arriba, Ana Gorostidi, Miren Zulaica, Jorge Villanua, Zigor Diaz, Sergi Borrego-Ecija, Jaume Olives, Albert Lladó, Mircea Balasa, Anna Antonell, Nuria Bargallo, Enrico Premi, Maura Cosseddu MPsych, Stefano Gazzina, Alessandro Padovani, Roberto Gasparotti, Silvana Archetti, Sandra Black, Sara Mitchell, Ekaterina Rogaeva, Morris Freedman, Ron Keren, Daid Tang-Wai, Linn Öijerstedt, Christin Andersson, Vesna Jelic, Hakan Thonberg, Andrea Arighi, Chiara Fenoglio, Elio Scarpini, Giorgio Fumagalli, Thomas Cope, Carolyn Timberlake, Timothy Rittman, Christen Shoesmith, Robart Bartha, Rosa Rademakers, Carlo Wilke, Hans-Otto Karnarth, Benjamin Bender, Rose Bruffaerts, Philip Vandamme, Mathieu Vandenbulcke, Catarina B. Ferreira, Gabriel Miltenberger, Carolina Maruta MPsych, Ana Verdelho, Sónia Afonso, Ricardo Taipa, Paola Caroppo, Giuseppe Di Fede, Giorgio Giaccone, Cristina Muscio, Sara Prioni, Veronica Redaelli, Giacomina Rossi, Pietro Tiraboschi, Diana Duro NPsych, Maria R. Almeida, Miguel Castelo-Branco, Maria J. Leitão, Miguel Tabuas-Pereira, Beatriz Santiago, Serge Gauthier, Pedro Rosa-Neto, Michele Veldsman, Paul Thompson, Tobias Langheinrich, Catharina Prix, Tobias Hoegen, Elisabeth Wlasich, Sandra Loosli, Sonja Schonecker, Elisa Semler, Sarah Anderl-Straub
Cortex, 2020
Behavioral and psychological effects of coronavirus disease-19 quarantine in patients with dementia
Annachiara Cagnin, Raffaele Di Lorenzo, Camillo Marra, Laura Bonanni, Chiara Cupidi, Valentina Laganà, Elisa Rubino, Alessandro Vacca, Paolo Provero, Valeria Isella, Nicola Vanacore, Federica Agosta, Ildebrando Appollonio, Paolo Caffarra, Ilaria Pettenuzzo, Renato Sambati, Davide Quaranta, Valeria Guglielmi, Giancarlo Logroscino, Massimo Filippi, Gioacchino Tedeschi, Carlo Ferrarese, Innocenzo Rainero, Amalia C. Bruni, and
Frontiers in Psychiatry, 2020
The Rise of the GRN C157KfsX97 Mutation in Southern Italy: Going Back to the Fall of the Western Roman Empire
Cinzia Coppola, Dario Saracino, Mariano Oliva, Gianfranco Puoti, Giacomo Lus, Isabelle Le Ber, Jérémie Pariente, Alessandro Tessitore, Luisa Benussi, Roberta Ghidoni, Matteo Carrara, Martina Ricci, Veronica Redaelli, Pietro Tiraboschi, Paola Caroppo, Giorgio Giaccone, Simona Bonavita, Giacomina Rossi
Journal of Alzheimer S Disease, 2020
Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia
Andre Altmann, David M Cash, Martina Bocchetta, Carolin Heller, Regina Reynolds, Katrina Moore, Rhian S Convery, David L Thomas, John C van Swieten, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Daniela Galimberti, James B Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris R Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Giovanni Frisoni, Roberta Ghidoni, Sandro Sorbi, Markus Otto, Mina Ryten, Jonathan D Rohrer, the Genetic FTD Initiative, GENFI, Caroline Greaves, Georgia Peakman, Rachelle Shafei, Emily Todd, Martin N Rossor, Jason D Warren, Nick C Fox, Henrik Zetterberg, Rita Guerreiro, Jose Bras, Jennifer Nicholas, Simon Mead, Lize Jiskoot, Lieke Meeter, Jessica Panman, Janne M Papma, Rick van Minkelen, Yolanda Pijnenburg, Myriam Barandiaran, Begoa Indakoetxea, Alazne Gabilondo, Mikel Tainta, Maria de Arriba, Ana Gorostidi, Miren Zulaica, Jorge Villanua, Zigor Diaz, Sergi Borrego-Ecija, Jaume Olives, Albert Lladó, Mircea Balasa, Anna Antonell, Nuria Bargallo, Enrico Premi, Maura Cosseddu, Stefano Gazzina, Alessandro Padovani, Roberto Gasparotti, Silvana Archetti, Sandra Black, Sara Mitchell, Ekaterina Rogaeva, Morris Freedman, Ron Keren, David Tang-Wai, Linn Öijerstedt, Christin Andersson, Vesna Jelic, Hakan Thonberg, Andrea Arighi, Chiara Fenoglio, Elio Scarpini, Giorgio Fumagalli, Thomas Cope, Carolyn Timberlake, Timothy Rittman, Christen Shoesmith, Robart Bartha, Rosa Rademakers, Carlo Wilke, Hans-Otto Karnarth, Benjamin Bender, Rose Bruffaerts, Philip Van Damme, Mathieu Vandenbulcke, Catarina B Ferreira, Gabriel Miltenberger, Carolina Maruta, Ana Verdelho, Sónia Afonso, Ricardo Taipa, Paola Caroppo, Giuseppe Di Fede, Giorgio Giaccone, Sara Prioni, Veronica Redaelli, Giacomina Rossi, Pietro Tiraboschi, Diana Duro, Maria Rosario Almeida, Miguel Castelo-Branco, Maria João Leitão, Miguel Tabuas-Pereira, Beatriz Santiago, Serge Gauthier, Pedro Rosa-Neto, Michele Veldsman, Paul Thompson, Tobias Langheinrich, Catharina Prix, Tobias Hoegen, Elisabeth Wlasich, Sandra Loosli, Sonja Schonecker, Elisa Semler, Sarah Anderl-Straub, Luisa Benussi, Giuliano Binetti, Michela Pievani, Gemma Lombardi, Benedetta Nacmias, Camilla Ferrari, Valentina Bessi, Cristina Polito
Brain Communications, 2020
Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia
Carolin Heller, Martha S Foiani, Katrina Moore, Rhian Convery, Martina Bocchetta, Mollie Neason, David M Cash, David Thomas, Caroline V Greaves, Ione OC Woollacott, Rachelle Shafei, John C Van Swieten, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce Jr, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Daniela Galimberti, James B Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonca, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Christopher R Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Giovanni Frisoni, Sandro Sorbi, Markus Otto, Amanda J Heslegrave, Henrik Zetterberg, Jonathan D Rohrer
Journal of Neurology Neurosurgery and Psychiatry, 2020
18F-FDG in the differential diagnosis of neurodegenerative dementias
Angelo Del Sole, Veronica Redaelli, Paola Caroppo, Alberto Priori
Clinical and Translational Imaging, 2019
A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain)
Leire Palencia-Madrid, Raquel Sánchez-Valle, Ierai Fernández de Retana, Sergi Borrego, Oriol Grau-Rivera, Ramón Reñé, Isabel Hernández, Consuelo Almenar, Giacomina Rossi, Paola Caroppo, Veronica Redaelli, Isabelle Le Ber, Agnès Camuzat, Alexis Brice, Anna Antonell, Mircea Balasa, Ellen Gelpi, Albert Lladó, Marian M. de Pancorbo
Neurobiology of Aging, 2019
Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia
Timothy Rittman, Robin Borchert, Simon Jones, John van Swieten, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Fabrizio Tagliavini, Giovanni B. Frisoni, Robert Laforce, Elizabeth Finger, Alexandre Mendonça, Sandro Sorbi, Jonathan D. Rohrer, James B. Rowe, Sónia Afonso, Maria Rosario Almeida, Sarah Anderl-Straub, Christin Andersson, Anna Antonell, Silvana Archetti, Andrea Arighi, Mircea Balasa, Myriam Barandiaran, Nuria Bargalló, Robart Bartha, Benjamin Bender, Luisa Benussi, Valentina Bessi, Giuliano Binetti, Sandra Black, Martina Bocchetta, Sergi Borrego-Ecija, Jose Bras, Rose Bruffaerts, Paola Caroppo, David Cash, Miguel Castelo-Branco, Rhian Convery, Thomas Cope, Maura Cosseddu, María de Arriba, Giuseppe Di Fede, Zigor Díaz, Katrina M. Dick, Diana Duro, Chiara Fenoglio, Camilla Ferrari, Catarina B. Ferreira, Toby Flanagana, Nick Fox, Morris Freedman, Giorgio Fumagalli, Alazne Gabilondo, Roberto Gasparotti, Serge Gauthier, Stefano Gazzina, Roberta Ghidoni, Giorgio Giaccone, Ana Gorostidi, Caroline Greaves, Rita Guerreiro, Carolin Heller, Tobias Hoegen, Begoña Indakoetxea, Vesna Jelic, Lize Jiskoot, Hans-Otto Karnath, Ron Keren, Maria João Leitão, Albert Lladó, Gemma Lombardi, Sandra Loosli, Carolina Maruta, Simon Mead, Lieke Meeter, Gabriel Miltenberger, Rick van Minkelen, Sara Mitchell, Benedetta Nacmias, Mollie Neason, Jennifer Nicholas, Linn Öijerstedt, Jaume Olives, Alessandro Padovani, Jessica Panman, Janne Papma, Michela Pievani, Yolande Pijnenburg, Enrico Premi, Sara Prioni, Catharina Prix, Rosa Rademakers, Veronica Redaelli, Ekaterina Rogaeva, Pedro Rosa-Neto, Giacomina Rossi, Martin Rosser, Beatriz Santiago, Elio Scarpini, Sonja Schönecker, Elisa Semler, Rachelle Shafei, Christen Shoesmith, Miguel Tábuas-Pereira, Mikel Tainta, Ricardo Taipa, David Tang-Wai, David L. Thomas, Hakan Thonberg, Carolyn Timberlake, Pietro Tiraboschi, Philip Vandamme, Mathieu Vandenbulcke, Michele Veldsman, Ana Verdelho, Jorge Villanua, Jason Warren, Carlo Wilke, Ione Woollacott, Elisabeth Wlasich, Henrik Zetterberg, Miren Zulaica
Neurobiology of Aging, 2019
Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease
Simone Baiardi, Veronica Redaelli, Paolo Ripellino, Marcello Rossi, Alessia Franceschini, Maurizio Moggio, Patrizia Sola, Anna Ladogana, Paolo Fociani, Anna Magherini, Sabina Capellari, Armin Giese, Byron Caughey, Paola Caroppo, Piero Parchi
Journal of Neurology Neurosurgery and Psychiatry, 2019
Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: A GENFI study
Henri J M M Mutsaerts, Saira S Mirza, Jan Petr, David L Thomas, David M Cash, Martina Bocchetta, Enrico de Vita, Arron W S Metcalfe, Zahra Shirzadi, Andrew D Robertson, Maria Carmela Tartaglia, Sara B Mitchell, Sandra E Black, Morris Freedman, David Tang-Wai, Ron Keren, Ekaterina Rogaeva, John van Swieten, Robert Laforce, Fabrizio Tagliavini, Barbara Borroni, Daniela Galimberti, James B Rowe, Caroline Graff, Giovanni B Frisoni, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Jonathan D Rohrer, Bradley J MacIntosh, Mario Masellis, GENetic Frontotemporal dementia Initiative (GENFI), Christin Andersson, Silvana Archetti, Andrea Arighi, Luisa Benussi, Giuliano Binetti, Maura Cosseddu, Katrina M Dick, Marie Fallström, Carlos Ferreira, Chiara Fenoglio, Nick C Fox, Giorgio Fumagalli, Stefano Gazzina, Roberta Ghidoni, Marina Grisoli, Vesna Jelic, Lize Jiskoot, Gemma Lombardi, Carolina Maruta, Simon Mead, Lieke Meeter, Rick van Minkelen, Benedetta Nacmias, Linn Öijerstedt, Sebastien Ourselin, Alessandro Padovani, Jessica Panman, Michela Pievani, Cristina Polito, Enrico Premi, Sara Prioni, Rosa Rademakers, Veronica Redaelli, Giacomina Rossi, Martin N Rossor, Elio Scarpini, Hakan Thonberg, Pietro Tiraboschi, Ana Verdelho, Jason D Warren, Christin Andersson, Silvana Archetti, Andrea Arighi, Luisa Benussi, Giuliano Binetti, Maura Cosseddu, Katrina M Dick, Marie Fallström, Carlos Ferreira, Chiara Fenoglio, Nick C Fox, Giorgio Fumagalli, Stefano Gazzina, Roberta Ghidoni, Marina Grisoli, Vesna Jelic, Lize Jiskoot, Gemma Lombardi, Carolina Maruta, Simon Mead, Lieke Meeter, Rick van Minkelen, Benedetta Nacmias, Linn Öijerstedt, Sebastien Ourselin, Alessandro Padovani, Jessica Panman, Michela Pievani, Cristina Polito, Enrico Premi, Sara Prioni, Rosa Rademakers, Veronica Redaelli, Giacomina Rossi, Martin N Rossor, Elio Scarpini, Hakan Thonberg, Pietro Tiraboschi, Ana Verdelho, Jason D Warren
Brain, 2019
Spatiotemporal analysis for detection of pre-symptomatic shape changes in neurodegenerative diseases: Initial application to the GENFI cohort
Claire Cury, Stanley Durrleman, David M. Cash, Marco Lorenzi, Jennifer M. Nicholas, Martina Bocchetta, John C. van Swieten, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni B. Frisoni, Robert Laforce, Elizabeth Finger, Alexandre de Mendonça, Sandro Sorbi, Sebastien Ourselin, Jonathan D. Rohrer, Marc Modat, Christin Andersson, Silvana Archetti, Andrea Arighi, Luisa Benussi, Sandra Black, Maura Cosseddu, Marie Fallstrm, Carlos Ferreira, Chiara Fenoglio, Nick Fox, Morris Freedman, Giorgio Fumagalli, Stefano Gazzina, Roberta Ghidoni, Marina Grisoli, Vesna Jelic, Lize Jiskoot, Ron Keren, Gemma Lombardi, Carolina Maruta, Lieke Meeter, Rick van Minkelen, Benedetta Nacmias, Linn ijerstedt, Alessandro Padovani, Jessica Panman, Michela Pievani, Cristina Polito, Enrico Premi, Sara Prioni, Rosa Rademakers, Veronica Redaelli, Ekaterina Rogaeva, Giacomina Rossi, Martin Rossor, Elio Scarpini, David Tang-Wai, Carmela Tartaglia, Hakan Thonberg, Pietro Tiraboschi, Ana Verdelho, Jason Warren
Neuroimage, 2019
Stereotypic behaviours in frontotemporal dementia and progressive supranuclear palsy
Sara Prioni, Veronica Redaelli, Paola Soliveri, Vincenza Fetoni, Federica Barocco, Paolo Caffarra, Augusto Scaglioni, Irene Tramacere, Floriano Girotti
Cortex, 2018
Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference
Alexandra L Young, Razvan V Marinescu, Neil P Oxtoby, Martina Bocchetta, Keir Yong, Nicholas C Firth, David M Cash, David L Thomas, Katrina M Dick, Jorge Cardoso, John van Swieten, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni B Frisoni, Robert Laforce, Elizabeth Finger, Alexandre de Mendonça, Sandro Sorbi, Jason D Warren, Sebastian Crutch, Nick C Fox, Sebastien Ourselin, Jonathan M Schott, Jonathan D Rohrer, Daniel C Alexander, The Genetic FTD Initiative (GENFI), Christin Andersson, Silvana Archetti, Andrea Arighi, Luisa Benussi, Giuliano Binetti, Sandra Black, Maura Cosseddu, Marie Fallström, Carlos Ferreira, Chiara Fenoglio, Morris Freedman, Giorgio G Fumagalli, Stefano Gazzina, Roberta Ghidoni, Marina Grisoli, Vesna Jelic, Lize Jiskoot, Ron Keren, Gemma Lombardi, Carolina Maruta, Lieke Meeter, Simon Mead, Rick van Minkelen, Benedetta Nacmias, Linn Öijerstedt, Alessandro Padovani, Jessica Panman, Michela Pievani, Cristina Polito, Enrico Premi, Sara Prioni, Rosa Rademakers, Veronica Redaelli, Ekaterina Rogaeva, Giacomina Rossi, Martin Rossor, Elio Scarpini, David Tang-Wai, Hakan Thonberg, Pietro Tiraboschi, Ana Verdelho, The Alzheimer’s Disease Neuroimaging Initiative (ADNI), Michael W Weiner, Paul Aisen, Ronald Petersen, Clifford R Jack, William Jagust, John Q Trojanowki, Arthur W Toga, Laurel Beckett, Robert C Green, Andrew J Saykin, John Morris, Leslie M Shaw, Zaven Khachaturian, Greg Sorensen, Lew Kuller, Marc Raichle, Steven Paul, Peter Davies, Howard Fillit, Franz Hefti, Davie Holtzman, M Marcel Mesulam, William Potter, Peter Snyder, Adam Schwartz, Tom Montine, Ronald G Thomas, Michael Donohue, Sarah Walter, Devon Gessert, Tamie Sather, Gus Jiminez, Danielle Harvey, Matthew Bernstein, Paul Thompson, Norbert Schuff, Bret Borowski, Jeff Gunter, Matt Senjem, Prashanthi Vemuri, David Jones, Kejal Kantarci, Chad Ward, Robert A Koeppe, Norm Foster, Eric M Reiman, Kewei Chen, Chet Mathis, Susan Landau, Nigel J Cairns, Erin Householder, Lisa Taylor-Reinwald, Virginia Lee, Magdalena Korecka, Michal Figurski, Karen Crawford, Scott Neu, Tatiana M Foroud, Steven Potkin, Li Shen, Kelley Faber, Sungeun Kim, Kwangsik Nho, Leon Thal, Neil Buckholtz, Marylyn Albert, Richard Frank, John Hsiao, Jeffrey Kaye, Joseph Quinn, Betty Lind, Raina Carter, Sara Dolen, Lon S Schneider, Sonia Pawluczyk, Mauricio Beccera, Liberty Teodoro, Bryan M Spann, James Brewer, Helen Vanderswag, Adam Fleisher, Judith L Heidebrink, Joanne L Lord, Sara S Mason, Colleen S Albers, David Knopman, Kris Johnson, Rachelle S Doody, Javier Villanueva-Meyer, Munir Chowdhury, Susan Rountree, Mimi Dang, Yaakov Stern, Lawrence S Honig, Karen L Bell, Beau Ances, Maria Carroll, Sue Leon, Mark A Mintun, Stacy Schneider, Angela Oliver, Daniel Marson, Randall Griffith, David Clark, David Geldmacher, John Brockington, Erik Roberson, Hillel Grossman, Effie Mitsis, Leyla de Toledo-Morrell, Raj C Shah, Ranjan Duara, Daniel Varon, Maria T Greig, Peggy Roberts, Marilyn Albert, Chiadi Onyike, Daniel D’Agostino, Stephanie Kielb, James E Galvin, Brittany Cerbone, Christina A Michel, Henry Rusinek, Mony J de Leon, Lidia Glodzik, Susan De Santi, P Murali Doraiswamy, Jeffrey R Petrella, Terence Z Wong, Steven E Arnold, Jason H Karlawish, David Wolk, Charles D Smith, Greg Jicha, Peter Hardy, Partha Sinha, Elizabeth Oates, Gary Conrad, Oscar L Lopez, MaryAnn Oakley, Donna M Simpson, Anton P Porsteinsson, Bonnie S Goldstein, Kim Martin, Kelly M Makino, M Saleem Ismail, Connie Brand, Ruth A Mulnard, Gaby Thai, Catherine Mc-Adams-Ortiz, Kyle Womack, Dana Mathews, Mary Quiceno, Ramon Diaz-Arrastia, Richard King, Myron Weiner, Kristen Martin-Cook, Michael DeVous, Allan I Levey, James J Lah, Janet S Cellar, Jeffrey M Burns, Heather S Anderson, Russell H Swerdlow, Liana Apostolova, Kathleen Tingus, Ellen Woo, Daniel Hs Silverman, Po H Lu, George Bartzokis, Neill R Graff-Radford, Francine Parfitt, Tracy Kendall, Heather Johnson, Martin R Farlow, Ann Marie Hake, Brandy R Matthews, Scott Herring, Cynthia Hunt, Christopher H van Dyck, Richard E Carson, Martha G MacAvoy, Howard Chertkow, Howard Bergman, Chris Hosein, Bojana Stefanovic, Curtis Caldwell, Ging-Yuek Robin Hsiung, Howard Feldman, Benita Mudge, Michele Assaly, Andrew Kertesz, John Rogers, Charles Bernick, Donna Munic, Diana Kerwin, Marek-Marsel Mesulam, Kristine Lipowski, Chuang-Kuo Wu, Nancy Johnson, Carl Sadowsky, Walter Martinez, Teresa Villena, Raymond Scott Turner, Kathleen Johnson, Brigid Reynolds, Reisa A Sperling, Keith A Johnson, Gad Marshall, Meghan Frey, Barton Lane, Allyson Rosen, Jared Tinklenberg, Marwan N Sabbagh, Christine M Belden, Sandra A Jacobson, Sherye A Sirrel, Neil Kowall, Ronald Killiany, Andrew E Budson, Alexander Norbash, Patricia Lynn Johnson, Joanne Allard, Alan Lerner, Paula Ogrocki, Leon Hudson, Evan Fletcher, Owen Carmichael, John Olichney, Charles DeCarli, Smita Kittur, Michael Borrie, T-Y Lee, Rob Bartha, Sterling Johnson, Sanjay Asthana, Cynthia M Carlsson, Steven G Potkin, Adrian Preda, Dana Nguyen, Pierre Tariot, Stephanie Reeder, Vernice Bates, Horacio Capote, Michelle Rainka, Douglas W Scharre, Maria Kataki, Anahita Adeli, Earl A Zimmerman, Dzintra Celmins, Alice D Brown, Godfrey D Pearlson, Karen Blank, Karen Anderson, Robert B Santulli, Tamar J Kitzmiller, Eben S Schwartz, Kaycee M Sink, Jeff D Williamson, Pradeep Garg, Franklin Watkins, Brian R Ott, Henry Querfurth, Geoffrey Tremont, Stephen Salloway, Paul Malloy, Stephen Correia, Howard J Rosen, Bruce L Miller, Jacobo Mintzer, Kenneth Spicer, David Bachman, Stephen Pasternak, Irina Rachinsky, Dick Drost, Nunzio Pomara, Raymundo Hernando, Antero Sarrael, Susan K Schultz, Laura L Boles Ponto, Hyungsub Shim, Karen Elizabeth Smith, Norman Relkin, Gloria Chaing, Lisa Raudin, Amanda Smith, Kristin Fargher, Balebail Ashok Raj, Thomas Neylan, Jordan Grafman, Melissa Davis, Rosemary Morrison, Jacqueline Hayes, Shannon Finley, Karl Friedl, Debra Fleischman, Konstantinos Arfanakis, Olga James, Dino Massoglia, J Jay Fruehling, Sandra Harding, Elaine R Peskind, Eric C Petrie, Gail Li, Jerome A Yesavage, Joy L Taylor, Ansgar J Furst
Nature Communications, 2018
Tau mutations as a novel risk factor for cancer—response
Giacomina Rossi, Veronica Redaelli, Paola Perego, Raffaele Ferrari, Giorgio Giaccone, Fabrizio Tagliavini
Cancer Research, 2018
Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges
Samir Abu‐Rumeileh, Veronica Redaelli, Simone Baiardi, Graeme Mackenzie, Otto Windl, Diane L. Ritchie, Giuseppe Didato, Jorge Hernandez‐Vara, Marcello Rossi, Sabina Capellari, Daniele Imperiale, Mario Giorgio Rizzone, Alessia Belotti, Sandro Sorbi, Annemieke J. M. Rozemuller, Pietro Cortelli, Ellen Gelpi, Robert G. Will, Inga Zerr, Giorgio Giaccone, Piero Parchi
Annals of Neurology, 2018
Multicentre, cross-cultural, population-based, case-control study of physical activity as risk factor for amyotrophic lateral sclerosis
Anne E Visser, James P K Rooney, Fabrizio D’Ovidio, Henk-Jan Westeneng, Roel C H Vermeulen, Ettore Beghi, Adriano Chiò, Giancarlo Logroscino, Orla Hardiman, Jan H Veldink, Leonard H van den Berg
Journal of Neurology Neurosurgery and Psychiatry, 2018
Tau mutations serve as a novel risk factor for cancer
Giacomina Rossi, Veronica Redaelli, Paolo Contiero, Sabrina Fabiano, Giovanna Tagliabue, Paola Perego, Luisa Benussi, Amalia C. Bruni, Graziella Filippini, Mariangela Farinotti, Giorgio Giaccone, Simona Buiatiotis, Claudia Manzoni, Raffaele Ferrari, Fabrizio Tagliavini
Cancer Research, 2018
Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation
Veronica Redaelli, Ettore Salsano, Lara Colleoni, Paola Corbetta, Giovanni Tringali, Angelo Del Sole, Giorgio Giaccone, Giacomina Rossi
Journal of Alzheimer S Disease JAD, 2018
Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg
Veronica Redaelli, Giacomina Rossi, Emanuela Maderna, Gabor G. Kovacs, Elena Piccoli, Paola Caroppo, Francesca Cacciatore, Sonia Spinello, Marina Grisoli, Giuliano Sozzi, Andrea Salmaggi, Fabrizio Tagliavini, Giorgio Giaccone
Brain Pathology, 2018
Towards an early clinical diagnosis of sporadic CJD VV2 (ataxic type)
Simone Baiardi, Anna Magherini, Sabina Capellari, Veronica Redaelli, Anna Ladogana, Marcello Rossi, Fabrizio Tagliavini, Maurizio Pocchiari, Giorgio Giaccone, Piero Parchi
Journal of Neurology Neurosurgery and Psychiatry, 2017
Clinical features, pathophysiology and management of fatal familial insomnia
Veronica Redaelli, Fabrizio Tagliavini, Fabio Moda
Expert Opinion on Orphan Drugs, 2017
Detection of prion seeding activity in the olfactory mucosa of patients with Fatal Familial Insomnia
Veronica Redaelli, Edoardo Bistaffa, Gianluigi Zanusso, Giulia Salzano, Luca Sacchetto, Martina Rossi, Chiara Maria Giulia De Luca, Michele Di Bari, Sara Maria Portaleone, Umberto Agrimi, Giuseppe Legname, Ignazio Roiter, Gianluigi Forloni, Fabrizio Tagliavini, Fabio Moda
Scientific Reports, 2017
Normal Pressure Hydrocephalus and Parkinsonism: Preliminary Data on Neurosurgical and Neurological Treatment
Morgan Broggi, Veronica Redaelli, Giovanni Tringali, Francesco Restelli, Luigi Romito, Silvia Schiavolin, Fabrizio Tagliavini, Giovanni Broggi
World Neurosurgery, 2016
Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol
Martina Bocchetta, SINdem BozzaliMarco o ParnettiLucilla p FerrareseCarlo q CappaStefano F. r MarraCamillo s MasulloCarlo t RaineroInnocenzo u SilaniVincenzo v SorrentinoGiuseppe w BrunoGiuseppe x CagninAnnachiara y, Anna Mega, Livia Bernardi, Emilio Di Maria, Luisa Benussi, Giuliano Binetti, Barbara Borroni, Rosanna Colao, Giuseppe Di Fede, Silvia Fostinelli, Daniela Galimberti, Massimo Gennarelli, Roberta Ghidoni, Irene Piaceri, Michela Pievani, Corinna Porteri, Veronica Redaelli, Giacomina Rossi, Silvia Suardi, Claudio Babiloni, Elio Scarpini, Fabrizio Tagliavini, Alessandro Padovani, Benedetta Nacmias, Sandro Sorbi, Giovanni B. Frisoni, Amalia C. Bruni
Journal of Alzheimer S Disease, 2016
Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: Study of pathogenetic features
Celeste M. Karch, Lubov Ezerskiy, Veronica Redaelli, Anna Rita Giovagnoli, Pietro Tiraboschi, Giuseppe Pelliccioni, Paolo Pelliccioni, Dimos Kapetis, Ilaria D'Amato, Elena Piccoli, Maria Giulia Ferretti, Fabrizio Tagliavini, Giacomina Rossi
Neurobiology of Aging, 2015
Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: A cross-sectional analysis
Jonathan D Rohrer, Jennifer M Nicholas, David M Cash, John van Swieten, Elise Dopper, Lize Jiskoot, Rick van Minkelen, Serge A Rombouts, M Jorge Cardoso, Shona Clegg, Miklos Espak, Simon Mead, David L Thomas, Enrico De Vita, Mario Masellis, Sandra E Black, Morris Freedman, Ron Keren, Bradley J MacIntosh, Ekaterina Rogaeva, David Tang-Wai, Maria Carmela Tartaglia, Robert Laforce, Fabrizio Tagliavini, Pietro Tiraboschi, Veronica Redaelli, Sara Prioni, Marina Grisoli, Barbara Borroni, Alessandro Padovani, Daniela Galimberti, Elio Scarpini, Andrea Arighi, Giorgio Fumagalli, James B Rowe, Ian Coyle-Gilchrist, Caroline Graff, Marie Fallström, Vesna Jelic, Anne Kinhult Ståhlbom, Christin Andersson, Håkan Thonberg, Lena Lilius, Giovanni B Frisoni, Giuliano Binetti, Michela Pievani, Martina Bocchetta, Luisa Benussi, Roberta Ghidoni, Elizabeth Finger, Sandro Sorbi, Benedetta Nacmias, Gemma Lombardi, Cristina Polito, Jason D Warren, Sebastien Ourselin, Nick C Fox, Martin N Rossor
Lancet Neurology, 2015
Mathematical models for the diffusion magnetic resonance signal abnormality in patients with prion diseases
Matteo Figini, Daniel C. Alexander, Veronica Redaelli, Fabrizio Fasano, Marina Grisoli, Giuseppe Baselli, Pierluigi Gambetti, Fabrizio Tagliavini, Alberto Bizzi
Neuroimage Clinical, 2015
Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases
Gianluigi Forloni, Mauro Tettamanti, Ugo Lucca, Yasmin Albanese, Elena Quaglio, Roberto Chiesa, Alessandra Erbetta, Flavio Villani, Veronica Redaelli, Fabrizio Tagliavini, Vladimiro Artuso, Ignazio Roiter
Prion, 2015
Normal pressure hydrocephalus and Parkinsonism: The essential teamwork between the neurosurgeon and the neurologist
Morgan Broggi, Luigi Romito, Veronica Redaelli, Angelo Franzini
World Neurosurgery, 2014
Panencephalopathic creutzfeldt-jakob disease with distinct pattern of prion protein deposition in a patient with d178n mutation and homozygosity for valine at codon 129 of the prion protein gene
Gabriella Marcon, Antonio Indaco, Giuseppe Di Fede, Silvia Suardi, Nicoletta Finato, Valentino Moretti, Sandro Micoli, Paolo Fociani, Pietro Zerbi, Alessandro Pincherle, Veronica Redaelli, Fabrizio Tagliavini, Giorgio Giaccone
Brain Pathology, 2014
Doxycycline in Creutzfeldt-Jakob disease: A phase 2, randomised, double-blind, placebo-controlled trial
Stéphane Haïk, Gabriella Marcon, Alain Mallet, Mauro Tettamanti, Arlette Welaratne, Giorgio Giaccone, Shohreh Azimi, Vladimiro Pietrini, Jean-Roch Fabreguettes, Daniele Imperiale, Pierre Cesaro, Carlo Buffa, Christophe Aucan, Ugo Lucca, Laurène Peckeu, Silvia Suardi, Christine Tranchant, Inga Zerr, Caroline Houillier, Veronica Redaelli, Hervé Vespignani, Angela Campanella, François Sellal, Anna Krasnianski, Danielle Seilhean, Uta Heinemann, Frédéric Sedel, Mara Canovi, Marco Gobbi, Giuseppe Di Fede, Jean-Louis Laplanche, Maurizio Pocchiari, Mario Salmona, Gianluigi Forloni, Jean-Philippe Brandel, Fabrizio Tagliavini
Lancet Neurology, 2014
A randomized, double-blind, placebo-controlled study of latrepirdine in patients with mild to moderate huntington disease: HORIZON investigators of the huntington study group and european huntington's disease network
Archives of Neurology, 2013
Stereotypic behaviors in degenerative dementias
S. Prioni, V. Fetoni, F. Barocco, V. Redaelli, C. Falcone, P. Soliveri, F. Tagliavini, A. Scaglioni, P. Caffarra, L. Concari, S. Gardini, F. Girotti
Journal of Neurology, 2012
A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression
Giacomina Rossi, Elena Piccoli, Luisa Benussi, Francesca Caso, Veronica Redaelli, Giuseppe Magnani, Giuliano Binetti, Roberta Ghidoni, Daniela Perani, Giorgio Giaccone, Fabrizio Tagliavini
Journal of Alzheimer S Disease, 2011
Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features
Giorgio Giaccone, Michela Morbin, Fabio Moda, Mario Botta, Giulia Mazzoleni, Andrea Uggetti, Marcella Catania, Maria Luisa Moro, Veronica Redaelli, Alberto Spagnoli, Roberta Simona Rossi, Mario Salmona, Giuseppe Di Fede, Fabrizio Tagliavini
Acta Neuropathologica, 2010

Veronica Redaelli

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