Neurology (clinical), Psychiatry and Mental health, Neuroscience, Neuroscience
92
Scopus Publications
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.
Circulating particles carotenoids are associated with rehabilitation recovery in Parkinson's disease Alice Gualerzi, Martina Gerli, Aurora Mangolini, Silvia Picciolini, Francesca Rodà, Valentina Mangolini, Stefano Doronzio, Diego Longo, Giulio Cherubini, Cristina Polito, Chiara De Santis, Silvia Ramat, Francesca Cecchi, Gemma Lombardi, Marzia Bedoni Redox Biology, 2025 Circulating nanoparticles include Extracellular Vesicles (EVs) and other circulating EV-like particles that are known mediators of the trafficking of pathologic proteins associated with Parkinson's disease (PD) progression as well as of products of the oxidative damage that characterizes the disease. In the framework of the VIRTREAD-PD trial protocol, circulating particles were isolated from the serum of 30 subjects with PD before and after an intensive rehabilitation program using a treadmill. Raman spectroscopy was used to verify modifications in the biochemistry of circulating particles and proved that an intensive motor rehabilitation program could affect the molecular composition of EV-like particles in the blood of people with PD (pwPD). Analysis performed before and after 8 weeks of intensive rehabilitation demonstrate significant changes in the biomolecules associated with EV-like particles and in carotenoid content. The presence of antioxidants linked to circulating particles was proved to be informative for the profiling of pwPD at admission and prognostic of the rehabilitation recovery. In conclusion, our data support the hypothesis that circulating particles have a dual role in PD, both in the neurodegenerative processes and in the response to rehabilitation. Besides, the Raman fingerprint and the spectral signature of carotenoids can represent measurable biomarkers of rehabilitation.
It's Never Too Early, It's Never Too Late: The Potential of Health Behaviors for Cardiovascular Health in Nonagenarians. Data From the Mugello Study Silvia Pancani, Gemma Lombardi, Francesco Sofi, Guido Pasquini, Federica Vannetti, Francesca Cecchi, Claudio Macchi Journals of Gerontology Series A Biological Sciences and Medical Sciences, 2025 Background The Life’s Essential 8 (LE8) is a composite metric including 4 health behaviors (diet, physical activity, nicotine exposure, and sleep) and 4 health factors (body mass index, nonhigh-density lipoprotein cholesterol, blood glucose, and blood pressure). This study aimed to describe the cardiovascular health (CVH) metrics promoted by LE8 in nonagenarians and to investigate their relationship with mortality at 5 and 10 years. Methods This study was conducted within the framework of the Mugello Study, a longitudinal survey on nonagenarians living in the Mugello area (Tuscany, Italy). One-hundred and fifty-seven subjects (42 males and 115 females, median age 92 years) were administered a series of validated questionnaires and underwent instrumental examinations and blood withdrawal. CVH metrics were calculated according to LE8 guidelines. Physical activity and sleep duration were quantitatively estimated using a monitor device. Results In the male group, after 5 and 10 years of follow-up, a higher Health Behavior score was associated with a lower risk of all-cause mortality (HR: 0.963, p = .005 and HR: 0.972, p = .020; after 5 and 10 years). Differently, in the female group, no significant association was observed between the LE8 total score and subscores and different risk of mortality after 5 and 10 years from the interview. Conclusions These findings highlight the importance of potentially modifiable behaviors in improving survival. They support resource investments to address the needs of individuals in this stage of life and encourage them to be empowered and actively engage in health-promoting behaviors.
Effects of lower limb botulinum toxin injections on gait functional outcomes in stroke survivors: a systematic review and meta-analysis Chiara DE SANTIS, Stefano DORONZIO, Maria A. SZCZEPANSKA, Gemma LOMBARDI, Giovanna CRISTELLA, Chiara CASTAGNOLI, Teresa BARRETTA, Michele PIAZZINI, Marco BACCINI, Francesca CECCHI European Journal of Physical and Rehabilitation Medicine, 2025 INTRODUCTION: Spasticity is a relatively common complication of stroke. In the lower limb, it generally involves the ankle and the foot, often leading to equinovarus deformity. Botulinum toxin (BoNT) injections are commonly used to manage spasticity, both in the subacute and chronic phase after stroke; however, their effects on function, particularly gait, are uncertain. This systematic review aims to update the current evidence on the effects of BoNT treatment on gait function in stroke survivors. EVIDENCE ACQUISITION: This systematic review follows the PRISMA guidelines. We searched five databases (PubMed, Embase, Scopus, CINAHL, Web of Science) for Randomized Controlled Trials (RCTs) published in English that investigated the effects of BoNT injections on gait in individuals with stroke compared to any other treatment or no treatment. Two reviewers independently selected the studies, assessed the risk of bias using the PEDro scale, and extracted the results. Standardized mean differences were calculated and, when possible, meta-analyses were performed, using random effects models. EVIDENCE SYNTHESIS: From a total of 1238 records, 8 studies met the inclusion criteria, all but one study enrolling participants with chronic stroke. Sample sizes ranged from 16 to 468 subjects, for a total of 434 in the experimental groups and 568 in the control groups.. Gait function was assessed using a variety of gait tests, including instrumental gait analysis. Meta-analyses showed no significant effects of BoNT on gait speed, step frequency or step length. One small, underpowered study, with high risk of bias, reported significant improvements of gait speed in individuals with subacute stroke. Other gait-related variables were measured in single small trials, most often finding no differences between BoNT and control interventions. CONCLUSIONS: Our findings indicate that current evidence shows no effects of BoNT treatment on gait speed, and insufficient evidence on its effects on other gait parameters. Adequately-powered, high-quality trials are needed to verify whether BoNT treatment, beyond reducing spasticity, can positively impact functional outcomes other than gait speed in individuals with chronic post-stroke lower limb spasticity and/or during early stroke recovery.
Proteomic analysis reveals distinct cerebrospinal fluid signatures across genetic frontotemporal dementia subtypes Aitana Sogorb-Esteve, Sophia Weiner, Joel Simrén, Imogen J. Swift, Martina Bocchetta, Emily G. Todd, David M. Cash, 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, 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, GENFI, Kaj Blennow, Henrik Zetterberg, Jonathan D. Rohrer, Johan Gobom, David L. Thomas, 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 Radaaelli, David Tang-Wai, Ekaterina Rogaeva, Michel 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 Llado, Anna Antonell, Jaume Olives, Mircea Balasa, Nuria Bargalló, Sergi Borrego-Écija, Ana Verdelho, Carolina Maruta, Catarina B. Ferreira, Gabriel Miltenberger, Frederico Simões do Couto, Alazne Gabilondo, Jorge Villanua, Marta Cañada, Mikel Tainta, Miren Zulaica, Myriam Barandiaran, Patricial Alves, Benjamin Bender, Carlo Wilke, Lisa Graf, Annick Vogels, Mathieu Vandenbulcke, Philip van Damme, Rose Buffaerts, 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 Science Translational Medicine, 2025 We used an untargeted mass spectrometric approach, tandem mass tag proteomics, for the identification of proteomic signatures in genetic frontotemporal dementia (FTD). A total of 238 cerebrospinal fluid (CSF) samples from the Genetic FTD Initiative were analyzed, including samples from 107 presymptomatic (44 C9orf72 , 38 GRN , and 25 MAPT ) and 55 symptomatic (27 C9orf72 , 17 GRN , and 11 MAPT ) mutation carriers as well as 76 mutation-negative controls (“noncarriers”). We found shared and distinct proteomic alterations in each genetic form of FTD. Among the proteins significantly altered in symptomatic mutation carriers compared with noncarriers, we found that a set of proteins including neuronal pentraxin 2 and fatty acid binding protein 3 changed across all three genetic forms of FTD and patients with Alzheimer’s disease from previously published datasets. We observed differential changes in lysosomal proteins among symptomatic mutation carriers with marked abundance decreases in MAPT carriers but not other carriers. Further, we identified mutation-associated proteomic changes already evident in presymptomatic mutation carriers. Weighted gene coexpression network analysis combined with gene ontology annotation revealed clusters of proteins enriched in neurodegeneration and glial responses as well as synapse- or lysosome-related proteins indicating that these are the central biological processes affected in genetic FTD. These clusters correlated with measures of disease severity and were associated with cognitive decline. This study revealed distinct proteomic changes in the CSF of patients with genetic FTD, providing insights into the pathological processes involved in the disease. In addition, we identified proteins that warrant further exploration as diagnostic and prognostic biomarker candidates.
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.
Role of Blood P-Tau Isoforms (181, 217, 231) in Predicting Conversion from MCI to Dementia Due to Alzheimer’s Disease: A Review and Meta-Analysis Gemma Lombardi, Silvia Pancani, Riccardo Manca, Micaela Mitolo, Simone Baiardi, Federico Massa, Luigi Coppola, Monica Franzese, Emanuele Nicolai, Franca Rosa Guerini, Roberta Mancuso, Cristina Agliardi, Simone Agostini, Matteo Pardini, Gianni Virgili, Sandro Sorbi, Piero Parchi, Benedetta Nacmias, Annalena Venneri International Journal of Molecular Sciences, 2024 Blood-based biomarkers are minimally invasive tools to detect the pathological changes of Alzheimer’s Disease (AD). This meta-analysis aims to investigate the use of blood-derived p-tau isoforms (181, 217, 231) to predict conversion from mild cognitive impairment (MCI) to AD dementia (ADD). Studies involving MCI patients with data on blood p-tau isoforms at baseline and clinical diagnosis at follow-up (≥1 year) were included. Twelve studies on p-tau 181 (4340 MCI, conversion rate 20.6%), four on p-tau 217 (913 MCI, conversion rate 33.4%), and one on p-tau 231 (135 MCI, conversion rate 33%) were included. For p-tau 181, the pooled area under the receiver operating characteristic curve (AUC) was 0.73 (95% CI = 0.68–0.78), and for p-tau 217 was 0.85 (95% CI = 0.75–0.91). Plasma levels of p-tau 181 had good discriminatory power to identify MCI patients who will convert to ADD. Although only four studies on p-tau 217 have been included in the meta-analysis, in the last year the predictive power of p-tau 217 is emerging as superior to that of other isoforms. However, given the high heterogeneity detected in the p-tau 217 studies included in this meta-analysis, additional supportive evidence is needed. Insufficient results were available for p-tau 231. These findings support the prognostic utility of p-tau 181 and p-tau 217 measured in blood to predict progression to ADD in MCI and encourage its future implementation in clinical practice.
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
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
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
Medical Information Extraction With NLP-Powered QABots: A Real-World Scenario Claudio Crema, Federico Verde, Pietro Tiraboschi, Camillo Marra, Andrea Arighi, Silvia Fostinelli, Guido Maria Giuffré, Vera Pacoova Dal Maschio, Federica L'Abbate, Federica Solca, Barbara Poletti, Vincenzo Silani, Emanuela Rotondo, Vittoria Borracci, Roberto Vimercati, Valeria Crepaldi, Emanuela Inguscio, Massimo Filippi, Francesca Caso, Alessandra Maria Rosati, Davide Quaranta, Giuliano Binetti, Ilaria Pagnoni, Manuela Morreale, Francesca Burgio, Michelangelo Stanzani-Maserati, Sabina Capellari, Matteo Pardini, Nicola Girtler, Federica Piras, Fabrizio Piras, Stefania Lalli, Elena Perdixi, Gemma Lombardi, Sonia Di Tella, Alfredo Costa, Marco Capelli, Cira Fundarò, Marina Manera, Cristina Muscio, Elisa Pellencin, Raffaele Lodi, Fabrizio Tagliavini, Alberto Redolfi IEEE Journal of Biomedical and Health Informatics, 2024
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
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
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
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
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
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
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
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
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
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
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
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer’s disease and longevity in an Italian population Maria Giulia Bacalini, Flavia Palombo, Paolo Garagnani, Cristina Giuliani, Claudio Fiorini, Leonardo Caporali, Michelangelo Stanzani Maserati, Sabina Capellari, Martina Romagnoli, Sara De Fanti, Luisa Benussi, Giuliano Binetti, Roberta Ghidoni, Daniela Galimberti, Elio Scarpini, Marina Arcaro, Enrica Bonanni, Gabriele Siciliano, Michelangelo Maestri, Biancamaria Guarnieri, Italian Multicentric Group on clock genes, actigraphy in AD, Federico Cucchiara, Alessandro Schirru, Annalisa Lo Gerfo, Gemma Lombardi, Dario Arnaldi, Pietro Mattioli, Flavio Nobili, Gianluigi Cerroni, Antonella Bartoli, Raffaele Manni, Elena Sinforiani, Michele Terzaghi, Maria Grazia Arena, Rosalia Silvestri, Maria Caterina Di Perri, Ferdinando Franzoni, Gloria Tognoni, Michelangelo Mancuso, Sandro Sorbi, Ubaldo Bonuccelli, Ugo Faraguna, Morena Martucci, Daniela Monti, Valerio Carelli, Claudio Franceschi, Chiara La Morgia, Aurelia Santoro Geroscience, 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
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
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
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
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
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
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
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study Katrina M Moore, Jennifer Nicholas, Murray Grossman, Corey T McMillan, David J Irwin, Lauren Massimo, Vivianna M Van Deerlin, Jason D Warren, Nick C Fox, Martin N Rossor, Simon Mead, Martina Bocchetta, Bradley F Boeve, David S Knopman, Neill R Graff-Radford, Leah K Forsberg, Rosa Rademakers, Zbigniew K Wszolek, John C van Swieten, Lize C Jiskoot, Lieke H Meeter, Elise GP Dopper, Janne M Papma, Julie S Snowden, Jennifer Saxon, Matthew Jones, Stuart Pickering-Brown, Isabelle Le Ber, Agnès Camuzat, Alexis Brice, Paola Caroppo, Roberta Ghidoni, Michela Pievani, Luisa Benussi, Giuliano Binetti, Bradford C Dickerson, Diane Lucente, Samantha Krivensky, Caroline Graff, Linn Öijerstedt, Marie Fallström, Håkan Thonberg, Nupur Ghoshal, John C Morris, Barbara Borroni, Alberto Benussi, Alessandro Padovani, Daniela Galimberti, Elio Scarpini, Giorgio G Fumagalli, Ian R Mackenzie, Ging-Yuek R Hsiung, Pheth Sengdy, Adam L Boxer, Howie Rosen, Joanne B Taylor, Matthis Synofzik, Carlo Wilke, Patricia Sulzer, John R Hodges, Glenda Halliday, John Kwok, Raquel Sanchez-Valle, Albert Lladó, Sergi Borrego-Ecija, Isabel Santana, Maria Rosário Almeida, Miguel Tábuas-Pereira, Fermin Moreno, Myriam Barandiaran, Begoña Indakoetxea, Johannes Levin, Adrian Danek, James B Rowe, Thomas E Cope, Markus Otto, Sarah Anderl-Straub, Alexandre de Mendonça, Carolina Maruta, Mario Masellis, Sandra E Black, Philippe Couratier, Geraldine Lautrette, Edward D Huey, Sandro Sorbi, Benedetta Nacmias, Robert Laforce, Marie-Pier L Tremblay, Rik Vandenberghe, Philip Van Damme, Emily J Rogalski, Sandra Weintraub, Alexander Gerhard, Chiadi U Onyike, Simon Ducharme, Sokratis G Papageorgiou, Adeline Su Lyn Ng, Amy Brodtmann, Elizabeth Finger, Rita Guerreiro, Jose Bras, Jonathan D Rohrer, Carolin Heller, Rhian S Convery, Ione OC Woollacott, Rachelle M Shafei, Jonathan Graff-Radford, David T Jones, Christina M Dheel, Rodolfo Savica, Maria I Lapid, Matt Baker, Julie A Fields, Ralitza Gavrilova, Kimiko Domoto-Reilly, Jackie M Poos, Emma L Van der Ende, Jessica L Panman, Laura Donker Kaat, Harro Seelaar, Anna Richardson, Giovanni Frisoni, Anna Mega, Silvia Fostinelli, Huei-Hsin Chiang, Antonella Alberici, Andrea Arighi, Chiara Fenoglio, Hilary Heuer, Bruce Miller, Anna Karydas, Jamie Fong, Maria João Leitão, Beatriz Santiago, Diana Duro, Carlos Ferreira, Alazne Gabilondo, Maria De Arriba, Mikel Tainta, Miren Zulaica, Catarina Ferreira, Elisa Semler, Albert Ludolph, Bernhard Landwehrmeyer, Alexander E Volk, Gabriel Miltenberger, Ana Verdelho, Sónia Afonso, Maria Carmela Tartaglia, Morris Freedman, Ekaterina Rogaeva, Camilla Ferrari, Irene Piaceri, Valentina Bessi, Gemma Lombardi, Frédéric St-Onge, Marie-Claire Doré, Rose Bruffaerts, Mathieu Vandenbulcke, Jan Van den Stock, M Marsel Mesulam, Eileen Bigio, Christos Koros, John Papatriantafyllou, Christos Kroupis, Leonidas Stefanis, Christien Shoesmith, Erik Robertson, Giovanni Coppola, Eliana Marisa Da Silva Ramos, Daniel Geschwind Lancet Neurology, 2020
Challenges in Alzheimer's Disease Diagnostic Work-Up: Amyloid Biomarker Incongruences Gemma Lombardi, Alberto Pupi, Valentina Bessi, Cristina Polito, Sonia Padiglioni, Camilla Ferrari, Giulia Lucidi, Valentina Berti, Maria Teresa De Cristofaro, Irene Piaceri, Silvia Bagnoli, Benedetta Nacmias, Sandro Sorbi Journal of Alzheimer S Disease, 2020
Multicenter Study on Sleep and Circadian Alterations as Objective Markers of Mild Cognitive Impairment and Alzheimer's Disease Reveals Sex Differences Biancamaria Guarnieri, Michelangelo Maestri, Federico Cucchiara, Annalisa Lo Gerfo, Alessandro Schirru, Dario Arnaldi, Pietro Mattioli, Flavio Nobili, Gemma Lombardi, Gianluigi Cerroni, Antonella Bartoli, Raffaele Manni, Elena Sinforiani, Michele Terzaghi, Maria Grazia Arena, Rosalia Silvestri, Chiara La Morgia, Maria Caterina Di Perri, Ferdinando Franzoni, Gloria Tognoni, Michelangelo Mancuso, Sandro Sorbi, Ubaldo Bonuccelli, Gabriele Siciliano, Ugo Faraguna, Enrica Bonanni 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
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
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
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 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Comparison of arterial spin labeling registration strategies in the multi-center GENetic frontotemporal dementia initiative (GENFI) Henri J.M.M. Mutsaerts, Jan Petr, David L. Thomas, Enrico De Vita, David M. Cash, Matthias J.P. van Osch, Xavier Golay, Paul F.C. Groot, Sebastien Ourselin, John van Swieten, Robert Laforce, Fabrizio Tagliavini, Barbara Borroni, Daniela Galimberti, James B. Rowe, Caroline Graff, Francesca B. Pizzini, Elizabeth Finger, Sandro Sorbi, Miguel Castelo Branco, Jonathan D. Rohrer, Mario Masellis, Bradley J. MacIntosh, on behalf of the GENFI investigators Journal of Magnetic Resonance Imaging, 2018
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