Cerebrospinal fluid CEFA composition is enriched in saturated fatty acids and it is altered in Alzheimer's disease Chiara Pavanello, Alice Ossoli, Chiara Comi, Marta Turri, Lucio Tremolizzo, Elisa Conti, Paolo D'Incecco, Alberto Barbiroli, Paolo Parini, Nico Mitro, Donatella Caruso, Giulia Sierri, Francesca Re, Clizia Chinello, Claudia Fumagalli, Fulvio Magni, Karl Fernandes, Laura Calabresi Journal of Lipid Research, 2026 Cholesterol esterification is a fundamental step in cholesterol metabolism and transport, and in humans, it is operated by three enzymes. Lecithin:cholesterol acyltransferase (LCAT) is responsible of cholesterol esterification in plasma and other biological fluids including cerebrospinal fluid (CSF), where it is mainly activated by apolipoprotein E. Esterification of cholesterol within cells is instead operated by sterol O-1 and O-2 acyltransferases (SOAT1 and SOAT2). SOAT1 is expressed in all cell types, while SOAT2 is expressed in hepatocytes and enterocytes, where it produces cholesteryl esters (CEs) to be assembled within VLDL and chylomicrons. LCAT and SOAT1/2 have different substrate specificity; LCAT has a preference for the unsaturated fatty acids, while the SOAT enzymes prefer the saturated (SFAs) and monounsaturated fatty acids (MUFAs). Here, we show that CSF CEs have a different composition compared to plasma CEs and specifically are more enriched in SFAs and MUFAs, typical substrates of the SOAT2 enzyme, and less frequently used by LCAT. Protein and RNA analysis in astrocytes, the main lipoprotein-producing cells in the central nervous system, excluded the presence of SOAT2, thus suggesting that CSF CEs are products of the LCAT enzyme. In line with this hypothesis, CSF phosphatidylcholine, the substrate of LCAT, is enriched in SFAs and MUFAs and depleted in polyunsaturated fatty acids. Moreover, we show that in Alzheimer's disease patients, CSF CEs are enriched in SFA, thus adding new insights into our recent observation that LCAT-mediated cholesterol esterification is hampered in Alzheimer's disease. In conclusion, the present findings not only clarify the enzymatic origin of CSF CEs but also open avenues for developing enzyme-specific biomarkers and therapeutic strategies aimed at restoring lipid homeostasis in the brain.
Cardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III F. Lanfranconi, L. Peli, L. Pollastri, A. Ferri, L. Tremolizzo, E. Conti, F. Pieruzzi, G. Miserocchi, E. Beretta, M. Marzorati, W. Zardo, S. Gasperini, R. Pretese, S. Paci, C. Capelli, R. Mariani, A. Cattoni, A. C. Balduzzi, R. Parini Physiological Reports, 2026 People with glycogen storage disease type III (GSDIII‐p) have a remarkably reduced exercise tolerance. Aim of this study was to analyze the oxygen transport‐utilization chain strategies adopted by GSDIII‐p during exercise. Nine GSDIII‐p (39.4 ± 10.0 year, 33% female) and 11 healthy controls (CTRL), age and gender matched, underwent an incremental cardiopulmonary exhaustion test (CPET) to assess peak heart rate (HR), blood lactate [La]p and vastus lateralis O 2 fractional extraction (ΔHHb/isch) using near‐infrared spectroscopy. Patterns of breathing (PBr) were assessed accordingly by analyzing pulmonary O 2 uptake (V̇O 2 ), tidal volume (Vt), respiratory frequency (Rf), end‐tidal CO 2 (PETCO 2 ) and alveolar ventilation (V̇A). GSDIII‐p exhibited significantly ( p < 0.05) lower peak values of V̇O 2 , pulmonary ventilation (V̇E) [La] and ΔHHb/isch compared to CTRL (1.7 ± 0.7 vs. 3.2 ± 1.1 L/min, 50.5 ± 19.8 vs. 113.6 ± 40.4 L/min, 1.8 ± 0.7 vs. 7.6 ± 3.0 mmol/L and 39.1% ± 9.9% vs. 74.8% ± 36.6%, respectively). The range of peak V̇O 2 values for GSDIII‐p, compared to the predicted values for age and sex, was between 79% and 35%. Both GSDIII‐p and CTRL were arbitrarily divided into 4 groups according to individual V̇E values. GSDIII‐p with exercise intolerance relied on increased Rf with inadequate Vt adaptation to maintain V̇E and reduce PETCO 2 , with low V̇A values and low to moderate workloads tolerance. Reduced exercise tolerance in GSDIII‐p is related to respiratory and skeletal muscle inefficiencies. GSDIII‐p strong heterogeneity evaluated throught CPET provides insights into clinical management.
Cognitive and social intervention with Go and chess in early and subjective cognitive decline: The COGniChESs study results, with an updated meta-analysis Federico Emanuele Pozzi, Alessandro Spanio, Francesco Gallo, Giovanni Isgrò, Giulia Remoli, Andrea Magi, Elena Moscatelli, Emilia Crisci, Giulia Negro, Ildebrando Appollonio, Carlo Ferrarese, Lucio Tremolizzo Journal of Alzheimer S Disease, 2026 Background There is a growing interest in dementia prevention and scalable cognitive enhancement strategies for individuals at-risk, with or without Alzheimer's disease. Board games have shown potential cognitive and mood benefits, but randomized controlled evidence remains limited and heterogeneous. Objective We aimed at assessing whether chess and/or Go could improve cognition, mood, and quality of life in individuals with mild cognitive impairment (MCI) and subjective cognitive decline (SCD). Methods Individuals with MCI or SCD aged ≥55 years were randomized to one of three arms: chess, Go (each consisting of 12 weekly group sessions), or a waitlist control group. Montreal Cognitive Assessment, digit span, trail making test, categorical fluency, Geriatric Depression Scale, and the World Health Organization Quality of Life scale were administered at baseline and follow-up. We also updated our previously published meta-analysis including these new results. Results 69 subjects completed the study. Categorical fluency improved significantly in the games groups (p < 0.05). No between-group differences were found in overall cognition. A significant group × diagnosis × time interaction showed improved quality of life in MCI participants in the games groups (p = 0.002). A group × gender × time interaction revealed reduced depression in females in the games groups (p = 0.013). The updated meta-analysis confirmed a significant effect on depression (standardized mean differences −0.48, p = 0.013), but not on cognition. Conclusions The improvements in mood and quality of life, particularly among females and MCI subjects, underscore the psychological value of board games interventions, possibly through their social component. These activities may foster emotional well-being in older adults at risk for Alzheimer's disease, even without cognitive benefits. Clinicaltrials.gov Identifier: NCT06281652
Air pollutants and amyotrophic lateral sclerosis in a population-based registry: investigating disease susceptibility, progression and survival Elisabetta Pupillo, Elisa Bianchi, Luca Diamanti, Roberto Bergamaschi, Enrico Pisoni, Nilo Riva, Christian Lunetta, Massimiliano Filosto, Alessandro Padovani, Lucio Tremolizzo, Maria Luisa De Lodovici, MAurizio Angelo Leone, LOMBARD AIR POLLUTANTS STUDY GROUP Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2026 Objective: to investigate the association between long-term exposure to fine particulate matter (PM2.5) and nitrogen oxides (NOx) with ALS risk, progression, and survival. Methods: We conducted a population-based study in Lombardy, Italy. A case-control analysis included 161 incident ALS cases (2011–2014) and 161 age-, sex-, and province-matched controls. Average residential exposures to PM2.5 and NOx over the 20 years before diagnosis were estimated using European Monitoring and Evaluation Programme data and analysed with conditional logistic regression. A retrospective cohort of 135 ALS cases was used to assess associations with disease progression (ΔFS) and mortality using logistic and Cox regression models, adjusting for demographic and lifestyle factors. Results: Higher PM2.5 exposure in the 20 years preceding diagnosis was associated with increased ALS risk (adjusted OR per 5 µg/m³ increase 1.19; 95% CI 1.01–1.40), with consistent findings across sensitivity analyses. NOx was not associated with ALS incidence. In contrast, NOx exposure in the 5 years before diagnosis was marginally associated with increased mortality (adjusted HR 1.12; 95% CI 1.00–1.26), whereas PM2.5 was not. Neither pollutant was significantly associated with disease progression rate. Conclusions: Long-term PM2.5 exposure was associated with higher ALS risk, while NOx showed a modest association with mortality. These findings support a role of air pollution in ALS susceptibility and highlight the need for integrated environmental prevention strategies to mitigate the burden of neurodegenerative diseases.
Multicomponent interventions and technologies to reduce the burden of frailty, functional, and cognitive decline: insights from the Age-It Research Program Chukwuma Okoye, Luca Cuffaro, Federico Emanuele Pozzi, Maria Cristina Ferrara, Marianna Noale, Stefano Calciolari, Davide Chicco, Febo Cincotti, Roberta Daini, Alberto Finazzi, Luca Francioso, Francesca Gasparini, Eleonora Pagan, Patrizia Ribino, Zaira Romeo, Gessica Sala, Vincenzo Solfrizzi, Antonella Zambon, Stefania Maggi, Giuseppe Bellelli, Carlo Ferrarese, , Cristna Airoldi, Alessandra Aloisi, Ildebrando Appollonio, Chiara Bazzini, Mario Alessandro Bochicchio, Matteo Bologna, Elvira Brattico, Giuseppe Bruno, Martina Bulgari, Marco Canevelli, Simonetta Capone, Chiara Ceolin, Ferdinando Chiaradonna, Emma Colamarino, Elisa Conti, Andrea Corsonello, Gabriella Cortelessa, Lucilla Crudele, Carlo Custodero, Annamaria De Luca, Marianna Delussi, Claudia Di Napoli, Vittorio Dibello, Matteo Franchi, Diego Ganora, Loreto Gesualdo, Eris Goldin, Alessandra Grossi, Valeria Isella, Roberta Lenti, Alessandro Leone, Sandro Locati, Antonio Logrieco, Giancarlo Logroscino, Eleonora Macchia, Paola Mantuano, Azzurra Massimi, Paolo Matteini, Giovanni Messina, Luca Moretti, Antonino Natalello, Ivan Orlandi, Giovanni Paragliola, Giulia Paparella, Sara Pegoraro, Vito Pirrelli, Nicola Antonio Adolfo Quaranta, Giovanni Riccardi, Daniele Romano, Aurora Saibene, Alessandro Sala, Elisa Sciurti, Serino Luca, Pietro Siciliano, Francesco Silanos, Alessio Tamburrano, Giorgia Tosi, Alina Tratsevich, Lucio Tremolizzo, Paolo Villari, Alberto Vezzoso, Chiara Paola Zoia Journals of Gerontology Series B Psychological Sciences and Social Sciences, 2025 Objectives Preventing age-related complications is a critical priority for health systems. Within the Age-It program, Spoke 8 aims to evaluate scalable, multicomponent, technology-assisted interventions to prevent frailty and mitigate functional and cognitive decline in older adults across different care settings. Methods Spoke 8 includes three clinical studies conducted in community, hospital, and long-term care settings, supported by cross-cutting work packages on digital infrastructure, technology development, and economic evaluation. The intervention model integrates physical, cognitive, nutritional, and psychosocial components, supported by digital tools, biomarkers of aging, and a centralized data platform. Results The project is expected to generate evidence on the effectiveness, feasibility, and cost-effectiveness of multidomain interventions implemented across diverse real-world settings, including community, hospital, and long-term care. Technology-assisted strategies—such as wearable sensors and digital cognitive tools—may enhance adherence and enable remote monitoring, while also supporting more personalized care delivery. The integration of artificial intelligence will facilitate the interpretation of complex clinical and biological data, improving risk stratification and the early identification of individuals most likely to benefit from targeted interventions. Together, these approaches may help reduce hospitalizations, delay functional decline, and promote aging in place. Discussion This initiative supports the transition toward more integrated and equitable care models for older adults. Through the implementation of scalable, person-centered interventions within routine services, the project offers policy-relevant strategies to address frailty and functional decline—contributing to the redesign of aging care in Italy and providing insights applicable across diverse health systems facing the challenges of population aging countries.
Machine learning in Alzheimer’s disease genetics Matthew Bracher-Smith, Federico Melograna, Brittany Ulm, Céline Bellenguez, Benjamin Grenier-Boley, Diane Duroux, Alejo J. Nevado, Peter Holmans, Betty M. Tijms, Marc Hulsman, Itziar de Rojas, Rafael Campos-Martin, Sven van der Lee, Atahualpa Castillo, Fahri Küçükali, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Jürgen Deckert, Steffi Riedel-Heller, Lucrezia Hausner, Laura Molina-Porcel, Emrah Düzel, Timo Grimmer, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Thomas Tegos, Nikolaos Scarmeas, Oriol Dols-Icardo, Fermin Moreno, Jordi Pérez-Tur, María J. Bullido, Pau Pastor, Raquel Sánchez-Valle, Victoria Álvarez, Mercè Boada, Pablo García-González, Raquel Puerta, Pablo Mir, Luis M. Real, Gerard Piñol-Ripoll, Jose María García-Alberca, Eloy Rodriguez-Rodriguez, Hilkka Soininen, Sami Heikkinen, Alexandre de Mendonça, Shima Mehrabian, Latchezar Traykov, Jakub Hort, Martin Vyhnalek, Nicolai Sandau, Jesper Qvist Thomassen, Yolande A. L. Pijnenburg, Henne Holstege, John van Swieten, Inez Ramakers, Frans Verhey, Philip Scheltens, Caroline Graff, Goran Papenberg, Vilmantas Giedraitis, Julie Williams, Philippe Amouyel, Anne Boland, Jean-François Deleuze, Gael Nicolas, Carole Dufouil, Florence Pasquier, Olivier Hanon, Stéphanie Debette, Edna Grünblatt, Julius Popp, Roberta Ghidoni, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Vincenzo Solfrizzi, Lucilla Parnetti, Alessio Squassina, Lucio Tremolizzo, Barbara Borroni, Michael Wagner, Benedetta Nacmias, Marco Spallazzi, Davide Seripa, Innocenzo Rainero, Antonio Daniele, Fabrizio Piras, Carlo Masullo, Giacomina Rossi, Frank Jessen, Patrick Kehoe, Tsolaki Magda, Pascual Sánchez-Juan, Kristel Sleegers, Martin Ingelsson, Mikko Hiltunen, Rebecca Sims, Wiesje van der Flier, Ole A. Andreassen, Agustín Ruiz, Alfredo Ramirez, , Iris Jansen, Sven van der Lee, Victor Andrade, Victoria Fernández, Maria-Carolina Dalmasso, Luca Kleineidam, Shahzad Ahmad, Dag Aarsland, Amanda Cano, Carla Abdelnour, Emilio Alarcón-Martín, Daniel Alcolea, Montserrat Alegret, Ignacio Alvarez, Nicola J. Armstrong, Tsolaki Anthoula, Ildebrando Appollonio, Marina Arcaro, Silvana Archetti, Alfonso Arias Pastor, Lavinia Athanasiu, Henri Bailly, Nerisa Banaj, Miquel Baquero, Ana Belén Pastor, Claudine Berr, Céline Besse, Valentina Bessi, Giuliano Binetti, Silvia Fostinelli, Sonia Bellini, Alessandra Bizarro, Rafael Blesa, Mercè Boada, Silvia Boschi, Paola Bossù, Geir Bråthen, Catherine Bresner, Henry Brodaty, Keeley J. Brookes, Dolores Buiza-Rueda, Katharina Bûrger, Vanessa Burholt, Miguel Calero, Geneviève Chene, Ángel Carracedo, Roberta Cecchetti, Laura Cervera-Carles, Camille Charbonnier, Caterina Chillotti, Simona Ciccone, Jurgen A. H. R. Claassen, Jordi Clarimon, Christopher Clark, Elisa Conti, Anaïs Corma-Gómez, Guido Maria Giuffrè, Carlo Custodero, Delphine Daian, Efthimios Dardiotis, Jean-François Dartigues, Peter Paul de Deyn, Teodoro del Ser, Nicola Denning, Janine Diehl-Schmid, Mónica Diez-Fairen, Paolo Dionigi Rossi, Srdjan Djurovic, Emmanuelle Duron, Sebastiaan Engelborghs, Josep Blázquez, Michael Ewers, Tagliavini Fabrizio, Sune Fallgaard Nielsen, Lucia Farotti, Chiara Fenoglio, Marta Fernández-Fuertes, Catarina B. Ferreira, Evelyn Ferri, Bertrand Fin, Peter Fischer, Tormod Fladby, Klaus Fließbach, Juan Fortea, Tatiana M. Foroud, Silvia Fostinelli, Nick C. Fox, Emlio Franco-Macías, Ana Frank-García, Lutz Froelich, Jose Maria García-Alberca, Pablo García-González, Sebastian Garcia-Madrona, Guillermo Garcia-Ribas, Ina Giegling, Giaccone Giorgio, Oliver Goldhardt, Antonio González-Pérez, Giulia Grande, Emma Green, Tamar Guetta-Baranes, Annakaisa Haapasalo, Georgios Hadjigeorgiou, Harald Hampel, John Hardy, Annette M. Hartmann, Ganna Leonenko, Janet Harwood, Seppo Helisalmi, Michael T. Heneka, Isabel Hernández, Martin J. Herrmann, Per Hoffmann, Clive Holmes, Raquel Huerto Vilas, Marc Hulsman, Geert Jan Biessels, Charlotte Johansson, Lena Kilander, Anne Kinhult Ståhlbom, Miia Kivipelto, Anne Koivisto, Johannes Kornhuber, Mary H. Kosmidis, Carmen Lage, Erika J. Laukka, Alessandra Lauria, Jenni Lehtisalo, Ondrej Lerch, Alberto Lleó, Adolfo Lopez de Munain, Seth Love, Malin Löwemark, Lauren Luckcuck, Juan Macías, Catherine A. MacLeod, Wolfgang Maier, Francesca Mangialasche, Spallazzi Marco, Marta Marquié, Rachel Marshall, Angel Martín Montes, Carmen Martínez Rodríguez, Simon Mead, Miguel Medina, Alun Meggy, Silvia Mendoza, Manuel Menéndez-González, Merel Mol, Laura Montrreal, Kevin Morgan, Markus M. Nöthen, Tiia Ngandu, Børge G. Nordestgaard, Robert Olaso, Adelina Orellana, Michela Orsini, Maria Capdevila, Alessandro Padovani, Caffarra Paolo, Marta Martinez-Lucas, Pierre Pericard, Juan A. Pineda, Claudia Pisanu, Thomas Polak, Danielle Posthuma, Josef Priller, Raquel Puerta, Olivier Quenez, Inés Quintela, Alberto Rábano, Marcel J. T. Reinders, Peter Riederer, Claudia Olivé, Arvid Rongve, Irene Rosas Allende, Maitée Rosende-Roca, Jose Luis Royo, Elisa Rubino, María Eugenia Sáez, Paraskevi Sakka, Ingvild Saltvedt, Fernando García-Gutierrez, María Bernal Sánchez-Arjona, Florentino Sanchez-Garcia, Pascual Sánchez-Juan, Raquel Sánchez-Valle, Sigrid B. Sando, Michela Scamosci, Elio Scarpini, Martin Scherer, Matthias Schmid, Jonathan M. Schott, Geir Selbæk, Alexey A. Shadrin, Olivia Skrobot, Alina Solomon, Sandro Sorbi, Oscar Sotolongo-Grau, Annika Spottke, Eystein Stordal, Andrea Miguel, Lluís Tárraga, Niccolo Tesí, Anbupalam Thalamuthu, Tegos Thomas, Latchezar Traykov, Anne Tybjærg-Hansen, Andre Uitterlinden, Abbe Ullgren, Ingun Ulstein, Sergi Valero, Christine Van Broeckhoven, Jasper Van Dongen, Jeroen van Rooij, Rik Vandenberghe, Jean-Sebastian Vidal, Maria Gabriella Vita, Jonathan Vogelgsang, Michael Wagner, David Wallon, Leonie Weinhold, Gill Windle, Bob Woods, Mary Yannakoulia, Miren Zulaica, Mohsen Ghanbari, Perminder Sachdev, Karen Mather, Mohammad Arfan Ikram, Ruth Frikke-Schmidt, Najaf Amin, Gennady Roshchupkin, Jean-Charles Lambert, Kristel Van Steen, Cornelia van Duijn, Valentina Escott-Price Nature Communications, 2025 Traditional statistical approaches have advanced our understanding of the genetics of complex diseases, yet are limited to linear additive models. Here we applied machine learning (ML) to genome-wide data from 41,686 individuals in the largest European consortium on Alzheimer’s disease (AD) to investigate the effectiveness of various ML algorithms in replicating known findings, discovering novel loci, and predicting individuals at risk. We utilised Gradient Boosting Machines (GBMs), biological pathway-informed Neural Networks (NNs), and Model-based Multifactor Dimensionality Reduction (MB-MDR) models. ML approaches successfully captured all genome-wide significant genetic variants identified in the training set and 22% of associations from larger meta-analyses. They highlight 6 novel loci which replicate in an external dataset, including variants which map to ARHGAP25, LY6H, COG7, SOD1 and ZNF597. They further identify novel association in AP4E1, refining the genetic landscape of the known SPPL2A locus. Our results demonstrate that machine learning methods can achieve predictive performance comparable to classical approaches in genetic epidemiology and have the potential to uncover novel loci that remain undetected by traditional GWAS. These insights provide a complementary avenue for advancing the understanding of AD genetics.
Distinctive Progression Patterns of Brain Structural Damage Aid Classification of Frontotemporal Dementia Variants Edoardo Gioele Spinelli, Francesca Orlandi, Silvia Basaia, Francesco Costa, Stefano Pisano, Alma Ghirelli, Elisa Canu, Veronica Castelnovo, Elisa Sibilla, Giordano Cecchetti, Francesca Caso, Giuseppe Magnani, Paola Caroppo, Sara Prioni, Cristina Villa, Lucio Tremolizzo, Ildebrando Appollonio, Federico Verde, Nicola Ticozzi, Vincenzo Silani, Massimo Filippi, Federica Agosta European Journal of Neurology, 2025 BackgroundFrontotemporal dementia (FTD) encompasses diverse clinical phenotypes, primarily characterized by behavioral and/or language dysfunction. A newly characterized variant, semantic behavioral variant FTD (sbvFTD), exhibits predominant right temporal atrophy with features bridging behavioral variant FTD (bvFTD) and semantic variant primary progressive aphasia (svPPA). This study investigates the longitudinal structural MRI correlates of these FTD variants, focusing on cortical and subcortical structural damage to aid differential diagnosis and prognosis.MethodsSeventy‐one FTD patients (bvFTD = 45, sbvFTD = 11, svPPA = 15) and 37 healthy controls participated in a prospective study involving up to 24 months of serial neurological, neuropsychological, and 3 T MRI assessments. Cortical thickness and subcortical/cerebellar volumes were analyzed with linear mixed‐effect models. Support vector machine (SVM) models were used to classify subjects using baseline and longitudinal patterns of structural damage.ResultsAt baseline, sbvFTD showed right‐predominant temporal pole involvement associated with significant right frontal atrophy. Longitudinally, bvFTD showed widespread bilateral cortical and basal ganglia damage, svPPA demonstrated steady temporal lobe progression, and sbvFTD progressed primarily in left temporal and frontal regions with limited right hemisphere involvement. Baseline cortical thickness of frontal regions predicted subsequent functional decline in bvFTD and sbvFTD. A multiclass SVM model provided a good diagnostic classification accuracy, with similar results when using baseline data only (82%) and adding longitudinal data (83%).ConclusionsThis study delineates the unique structural MRI features and progression of FTD variants, highlighting sbvFTD as a distinct entity with early extra‐temporal involvement. These findings support the development of diagnostic and prognostic tools leveraging neuroimaging biomarkers.
Brain functional connectivity changes in amyotrophic lateral sclerosis with apathy and depression Veronica Castelnovo, Elisa Canu, Silvia Basaia, Edoardo Gioele Spinelli, Fabiola Freri, Paride Schito, Tommaso Russo, Yuri Falzone, Federico Verde, Silvia Torre, Barbara Poletti, Lucio Tremolizzo, Ildebrando Appollonio, Nicola Ticozzi, Vincenzo Silani, Massimo Filippi, Federica Agosta Journal of Neurology, 2025 Background Apathy and depression are the most prevalent neuropsychiatric symptoms in amyotrophic lateral sclerosis (ALS). Although insufficiently investigated, their distinction holds important clinical relevance for accurate diagnosis of ALS with behavioural impairment and for patients’ prognosis and management. In the present study, we aimed to assess both apathy and depressive symptoms in patients with ALS and whether they have similar or different functional neural correlates. Methods Using graph analysis and connectomics, global and lobar nodal properties and regional functional brain connectivity were assessed in ALS patients without apathy/depression (ALSn, n = 42), with apathy without depression (ALSa, n = 14), with depressive symptoms without apathy (ALSd, n = 20), and with apathy and depressive symptoms (ALSad, n = 6), and 46 healthy controls. Correlations between brain functional properties, apathy and depressive symptoms were performed in all patients. Results Depressive symptoms were related with reduced path length within bilateral basal ganglia (BG) network, and apathy was related with increased path length, decreased nodal strength and local efficiency within left BG network. ALSa patients showed altered functional nodal properties within BG network compared to ALSn and ALSd. Compared to healthy controls and all non-apathetic patients (ALSn and ALSd), all apathetic patients (ALSa and ALSad) exhibited altered functional nodal properties within parietal, occipital and frontal networks. Non-apathetic patients, compared to apathetic patients, showed relatively preserved functional nodal properties in the BG network. Conclusions Our findings indicate differences in brain functional neural organization associated with apathy and depression, underscoring the importance of distinguishing these symptoms in ALS and highlighting the need for targeted interventions.
BIOmarkers in NEuropsychiatric SYmptoms (BIONESY): A multicenter nation survey and a systematic review Giulia Perini, Matteo Cotta Ramusino, Marco Vergani, Alberto Gatti, Camillo Imbimbo, et al. Journal of Alzheimer S Disease, 2025 Background Behavioral and psychological symptoms of dementia (BPSD) have poorly understood pathological/morphological correlates. Objective We aimed to (1) investigate the perception of the utility of different biomarkers in the assessment of BPSD among Italian Memory Clinics and (2) review current literature in this regard. Methods A multicenter, national survey was launched by the BPSD Study Group of the Italian Neurological Society for Dementia (SINdem). Participants completed a semi-structured questionnaire on their perception of possible associations between the occurrence/severity of different BPSD and different biomarkers, based on their individual knowledge and clinical experience, regarding any type and severity of cognitive impairment. Then, we performed a systematic review according to PRISMA guidelines. Only papers reporting biomarkers correlates of BPSD in neurocognitive disorders were included. Results Among the 53 responders, 94%, 68%, 68%, and 45% perceived neuropsychological testing, MRI, FDG-PET, and EEG, respectively, associated with the total amount of BPSD. EEG alterations were perceived selectively associated with nighttime behavior disturbances and psychosis cluster (p < 0.01). Hallucinations, apathy and delusions were perceived as more correlated with biomarkers. Years of experience using biomarkers for diagnosis were associated with a more selective use of topographical biomarkers (p < 0.01). 91% of participants consider useful increasing the use of biomarkers to predict the occurrence/severity of BPSD. The literature review identified 99 eligible studies. Brain MRI (60 articles) and FDG-PET (12 studies) alterations are the most associated with BPSD. Conclusions In clinical practice, topographical biomarkers related to regional consequences of the pathology are perceived as potentially informative in the BPSD's assessment.
Transferability of European-derived Alzheimer’s disease polygenic risk scores across multiancestry populations Aude Nicolas, Richard Sherva, Benjamin Grenier-Boley, Yoontae Kim, Masataka Kikuchi, Jigyasha Timsina, Itziar de Rojas, María Carolina Dalmasso, Xiaopu Zhou, Yann Le Guen, Carlos E. Arboleda-Bustos, Maria Aparecida Camargos Bicalho, Maëlenn Guerchet, Sven van der Lee, Monica Goss, Atahualpa Castillo, Céline Bellenguez, Fahri Küçükali, Claudia L. Satizabal, Bernard Fongang, Qiong Yang, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Jürgen Deckert, Steffi Riedel-Heller, Lucrezia Hausner, Laura Molina-Porcel, Emrah Düzel, Timo Grimmer, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Thomas Tegos, Nikolaos Scarmeas, Oriol Dols-Icardo, Fermin Moreno, Jordi Pérez-Tur, María J. Bullido, Pau Pastor, Raquel Sánchez-Valle, Victoria Álvarez, Han Cao, Nancy Y. Ip, Amy K. Y. Fu, Fanny C. F. Ip, Natividad Olivar, Carolina Muchnik, Carolina Cuesta, Lorenzo Campanelli, Patricia Solis, Daniel Gustavo Politis, Silvia Kochen, Luis Ignacio Brusco, Mercè Boada, Pablo García-González, Raquel Puerta, Pablo Mir, Luis M. Real, Gerard Piñol-Ripoll, Jose María García-Alberca, Jose Luís Royo, Eloy Rodriguez-Rodriguez, Hilkka Soininen, Sami Heikkinen, Alexandre de Mendonça, Shima Mehrabian, Latchezar Traykov, Jakub Hort, Martin Vyhnalek, Katrine Laura Rasmussen, Jesper Qvist Thomassen, Yolande A. L. Pijnenburg, Henne Holstege, John C. van Swieten, Harro Seelaar, Jurgen A. H. R. Claassen, Willemijn J. Jansen, Inez Ramakers, Frans Verhey, Aad van der Lugt, Philip Scheltens, Jenny Ortega-Rojas, Ana Gabriela Concha Mera, Maria F. Mahecha, Rodrigo Pardo, Gonzalo Arboleda, Shahram Bahrami, Vera Fominykh, Geir Selbæk, Caroline Graff, Goran Papenberg, Vilmantas Giedraitis, Anne Boland, Jean-François Deleuze, Luiz Armando de Marco, Edgar Nunes de Moraes, Bernardo de Mattos Viana, Marco Túlio Gualberto Cintra, Teresa Juarez-Cedillo, Anthony J. Griswold, Tatiana Forund, Jonathan Haines, Lindsay Farrer, Anita DeStefano, Ellen Wijsman, Richard Mayeux, Margaret Pericak-Vance, Brian Kunkle, Alison Goate, Gerard D. Schellenberg, Badri Vardarajan, Li-San Wang, Yuk Yee Leung, Clifton L. Dalgard, Gael Nicolas, David Wallon, Carole Dufouil, Florence Pasquier, Olivier Hanon, Stéphanie Debette, Edna Grünblatt, Julius Popp, Bárbara Angel, Sergio Gloger, Maria Victoria Chacon, Rafael Aranguiz, Paulina Orellana, Andrea Slachevsky, Christian Gonzalez-Billault, Cecilia Albala, Patricio Fuentes, Perminder Sachdev, Karen A. Mather, Richard L. Hauger, Victoria Merritt, Matthew Panizzon, Rui Zhang, J. Michael Gaziano, Roberta Ghidoni, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Vincenzo Solfrizzi, Lucilla Parnetti, Alessio Squassina, Lucio Tremolizzo, Barbara Borroni, Benedetta Nacmias, Paolo Caffarra, Davide Seripa, Innocenzo Rainero, Antonio Daniele, Fabrizio Piras, , Sonia Moreno-Grau, Najaf Amin, Peter A. Holmans, Luca Kleineidam, Dag Aarsland, Pablo Garcia-Gonzalez, Carla Abdelnour, Emilio Alarcón-Martín, Daniel Alcolea, Montserrat Alegret, Ignacio Alvarez, Nicola J. Armstrong, Tsolaki Anthoula, Ildebrando Appollonio, Marina Arcaro, Silvana Archetti, Alfonso Arias Pastor, Lavinia Athanasiu, Henri Bailly, Nerisa Banaj, Miquel Baquero, Ana Belén Pastor, Sonia Bellini, Claudine Berr, Céline Besse, Valentina Bessi, Giuliano Binetti, Alessandra Bizarro, Rafael Blesa, Silvia Boschi, Paola Bossù, Geir Bråthen, Catherine Bresner, Henry Brodaty, Keeley J. Brookes, Dolores Buiza-Rueda, Katharina Bûrger, Vanessa Burholt, Miguel Calero, Geneviève Chene, Ángel Carracedo, Roberta Cecchetti, Laura Cervera-Carles, Camille Charbonnier, Caterina Chillotti, Simona Ciccone, Jordi Clarimon, Christopher Clark, Elisa Conti, Anaïs Corma-Gómez, Guido Maria Giuffrè, Carlo Custodero, Delphine Daian, Efthimios Dardiotis, Peter Paul de Deyn, Teodoro del Ser, Nicola Denning, Janine Diehl-Schmid, Mónica Diez-Fairen, Paolo Dionigi Rossi, Srdjan Djurovic, Emmanuelle Duron, Sebastiaan Engelborghs, Ana Espinosa, Michael Ewers, Tagliavini Fabrizio, Sune Fallgaard Nielsen, Lucia Farotti, Chiara Fenoglio, Marta Fernández-Fuertes, Catarina B. Ferreira, Evelyn Ferri, Bertrand Fin, Peter Fischer, Tormod Fladby, Klaus Fließbach, Juan Fortea, Tatiana M. Foroud, Silvia Fostinelli, Nick C. Fox, Emlio Franco-Macías, Ana Frank-García, Lutz Froelich, Jose Maria García-Alberca, Sebastian Garcia-Madrona, Guillermo Garcia-Ribas, Ina Giegling, Giaccone Giorgio, Oliver Goldhardt, Antonio González-Pérez, Giulia Grande, Emma Green, Tamar Guetta-Baranes, Annakaisa Haapasalo, Georgios Hadjigeorgiou, Harald Hampel, John Hardy, Annette M. Hartmann, Janet Harwood, Seppo Helisalmi, Michael T. Heneka, Isabel Hernández, Martin J. Herrmann, Per Hoffmann, Clive Holmes, Raquel Huerto Vilas, Marc Hulsman, Geert Jan Biessels, Charlotte Johansson, Lena Kilander, Anne Kinhult Ståhlbom, Miia Kivipelto, Anne Koivisto, Johannes Kornhuber, Mary H. Kosmidis, Carmen Lage, Erika J. Laukka, Alessandra Lauria, Jenni Lehtisalo, Ondrej Lerch, Alberto Lleó, Adolfo López-de Munain, Seth Love, Malin Löwemark, Lauren Luckcuck, Juan Macías, Catherine A. MacLeod, Wolfgang Maier, Francesca Mangialasche, Marco Spallazzi, Marta Marquié, Rachel Marshall, Angel Martín Montes, Carmen Martínez Rodríguez, Simon Mead, Miguel Medina, Alun Meggy, Silvia Mendoza, Manuel Menéndez-González, Merel Mol, Laura Montrreal, Kevin Morgan, Markus M. Möthen, Tiia Ngandu, Børge G. Nordestgaard, Robert Olaso, Adelina Orellana, Michela Orsini, Gemma Ortega, Alessandro Padovani, Alba Pérez-Cordón, Pierre Pericard, Juan A. Pineda, Claudia Pisanu, Thomas Polak, Danielle Posthuma, Josef Priller, Olivier Quenez, Inés Quintela, Alberto Rábano, Marcel J. T. Reinders, Peter Riederer, Natalia Roberto, Arvid Rongve, Irene Rosas Allende, Maitée Rosende-Roca, Jose Luis Royo, Elisa Rubino, María Eugenia Sáez, Paraskevi Sakka, Ingvild Saltvedt, Ángela Sanabria, María Bernal Sánchez-Arjona, Florentino Sanchez-Garcia, Pascual Sánchez-Juan, Sigrid B. Sando, Michela Scamosci, Elio Scarpini, Martin Scherer, Matthias Schmid, Jonathan M. Schott, Alexey A. Shadrin, Olivia Skrobot, Alina Solomon, Sandro Sorbi, Oscar Sotolongo-Grau, Annika Spottke, Eystein Stordal, Juan Pablo Tartan, Lluís Tárraga, Niccolo Tesí, Anbupalam Thalamuthu, Tegos Thomas, Anne Tybjærg-Hansen, Andre Uitterlinden, Abbe Ullgren, Ingun Ulstein, Sergi Valero, Christine Van Broeckhoven, Jasper Van Dongen, Rik Vandenberghe, Jean-Sébastien Vidal, Jonathan Vogelgsang, Michael Wagner, Leonie Weinhold, Gill Windle, Bob Woods, Mary Yannakoulia, Miren Zulaica, Hampton L. Leonard, Jenifer S. Yokoyama, Mike A. Nalls, Akinori Miyashita, Norikazu Hara, Kouichi Ozaki, Shumpei Niida, Julie Williams, Carlo Masullo, Philippe Amouyel, Pierre-Marie Preux, Pascal Mbelesso, Bébène Bandzouzi, Andy Saykin, Frank Jessen, Patrick G. Kehoe, Cornelia Van Duijn, Nesrine Ben Salem, Ruth Frikke-Schmidt, Lotfi Cherni, Michael D. Greicius, Magda Tsolaki, Pascual Sánchez-Juan, Marco Aurélio Romano Silva, Tenielle Porter, Simon M. Laws, Kristel Sleegers, Martin Ingelsson, Jean-François Dartigues, Sudha Seshadri, Giacomina Rossi, Laura Morelli, Mikko Hiltunen, Rebecca Sims, Wiesje van der Flier, Ole A. Andreassen, Humberto Arboleda, Carlos Cruchaga, Valentina Escott-Price, Agustín Ruiz, Kun Ho Lee, Takeshi Ikeuchi, Alfredo Ramirez, Jungsoo Gim, Mark Logue, Jean-Charles Lambert Nature Genetics, 2025 A polygenic score (PGS) for Alzheimer’s disease (AD) was derived recently from data on genome-wide significant loci in European ancestry populations. We applied this PGS to populations in 17 European countries and observed a consistent association with the AD risk, age at onset and cerebrospinal fluid levels of AD biomarkers, independently of apolipoprotein E locus (APOE). This PGS was also associated with the AD risk in many other populations of diverse ancestries. A cross-ancestry polygenic risk score improved the association with the AD risk in most of the multiancestry populations tested when the APOE region was included. Finally, we found that the PGS/polygenic risk score captured AD-specific information because the association weakened as the diagnosis was broadened. In conclusion, a simple PGS captures the AD-specific genetic information that is common to populations of different ancestries, although studies of more diverse populations are still needed to better characterize the genetics of AD. Polygenic risk scores for Alzheimer’s disease derived from individuals of European ancestry can show improved performance in multiancestry settings after incorporating genome-wide association summary statistics from diverse populations.
Modelling pathological spread through the structural connectome in the frontotemporal dementia clinical spectrum Federica Agosta, Silvia Basaia, Edoardo G Spinelli, Federica Facente, Laura Lumaca, Alma Ghirelli, Elisa Canu, Veronica Castelnovo, Elisa Sibilla, Chiara Tripodi, Fabiola Freri, Giordano Cecchetti, Giuseppe Magnani, Francesca Caso, Federico Verde, Nicola Ticozzi, Vincenzo Silani, Paola Caroppo, Sara Prioni, Cristina Villa, Lucio Tremolizzo, Ildebrando Appollonio, Ashish Raj, Massimo Filippi Brain, 2025
X‐chromosome-wide association study for Alzheimer’s disease Julie Le Borgne, Lissette Gomez, Sami Heikkinen, Najaf Amin, Shahzad Ahmad, Seung Hoan Choi, Joshua Bis, Benjamin Grenier-Boley, Omar Garcia Rodriguez, Luca Kleineidam, Juan Young, Kumar Parijat Tripathi, Lily Wang, Achintya Varma, Rafael Campos-Martin, Sven van der Lee, Vincent Damotte, Itziar de Rojas, Sagnik Palmal, , Richard Lipton, Eric Reiman, Ann McKee, Philip De Jager, William Bush, Scott Small, Allan Levey, Andrew Saykin, Tatiana Foroud, Marilyn Albert, Bradley Hyman, Ronald Petersen, Steven Younkin, Mary Sano, Thomas Wisniewski, Robert Vassar, Julie Schneider, Victor Henderson, Erik Roberson, Charles DeCarli, Frank LaFerla, James Brewer, Russell Swerdlow, Linda Van Eldik, Kara Hamilton-Nelson, Henry Paulson, Adam Naj, Oscar Lopez, Helena Chui, Paul Crane, Thomas Grabowski, Walter Kukull, Sanjay Asthana, Suzanne Craft, Stephen Strittmatter, Carlos Cruchaga, James Leverenz, Alison Goate, M. Ilyas Kamboh, Peter St George-Hyslop, Otto Valladares, Amanda Kuzma, Laura Cantwell, Matthias Riemenschneider, John Morris, Susan Slifer, Carolina Dalmasso, Atahualpa Castillo, Fahri Küçükali, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Jürgen Deckert, Steffi Riedel-Heller, Lucrezia Hausner, Laura Molina-Porcel, Emrah Düzel, Timo Grimmer, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Thomas Tegos, Nikolaos Scarmeas, Oriol Dols-Icardo, Fermin Moreno, Jordi Pérez-Tur, María J. Bullido, Pau Pastor, Raquel Sánchez-Valle, Victoria Álvarez, Mercè Boada, Pablo García-González, Raquel Puerta, Pablo Mir, Luis M. Real, Gerard Piñol-Ripoll, Jose María García-Alberca, Jose Luís Royo, Eloy Rodriguez-Rodriguez, Hilkka Soininen, Alexandre de Mendonça, Shima Mehrabian, Latchezar Traykov, Jakub Hort, Martin Vyhnalek, Jesper Qvist Thomassen, Yolande A. L. Pijnenburg, Henne Holstege, John van Swieten, Inez Ramakers, Frans Verhey, Philip Scheltens, Caroline Graff, Goran Papenberg, Vilmantas Giedraitis, Anne Boland, Jean-François Deleuze, Gael Nicolas, Carole Dufouil, Florence Pasquier, Olivier Hanon, Stéphanie Debette, Edna Grünblatt, Julius Popp, Roberta Ghidoni, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Vincenzo Solfrizzi, Lucilla Parnetti, Alessio Squassina, Lucio Tremolizzo, Barbara Borroni, Benedetta Nacmias, Marco Spallazzi, Davide Seripa, Innocenzo Rainero, Antonio Daniele, Paola Bossù, Carlo Masullo, Giacomina Rossi, Frank Jessen, Victoria Fernandez, Patrick Gavin Kehoe, Ruth Frikke-Schmidt, Magda Tsolaki, Pascual Sánchez-Juan, Kristel Sleegers, Martin Ingelsson, Jonathan Haines, Lindsay Farrer, Richard Mayeux, Li-San Wang, Rebecca Sims, Anita DeStefano, Gerard D. Schellenberg, Sudha Seshadri, Philippe Amouyel, Julie Williams, Wiesje van der Flier, Alfredo Ramirez, Margaret Pericak-Vance, Ole A. Andreassen, Cornelia Van Duijn, Mikko Hiltunen, Agustín Ruiz, Josée Dupuis, Eden Martin, Jean-Charles Lambert, Brian Kunkle, Céline Bellenguez Molecular Psychiatry, 2025
Frontotemporal dementia characterization using neurite orientation dispersion and density imaging Stefano Pisano, Silvia Basaia, Federica Agosta, Elisa Canu, Edoardo G Spinelli, Giordano Cecchetti, Alma Ghirelli, Elisa Sibilla, Giuseppe Magnani, Francesca Caso, Paola Caroppo, Sara Prioni, Cristina Villa, Lucio Tremolizzo, Ildebrando Appollonio, Federico Verde, Nicola Ticozzi, Vincenzo Silani, Massimo Filippi Brain Communications, 2025
A common marker of affect recognition dysfunction in the FTD spectrum of disorders Elisa Canu, Veronica Castelnovo, Edoardo Nicolò Aiello, Giulia De Luca, Elisa Sibilla, Fabiola Freri, Chiara Tripodi, Edoardo Gioele Spinelli, Giordano Cecchetti, Giuseppe Magnani, Francesca Caso, Paola Caroppo, Sara Prioni, Cristina Villa, Lucio Tremolizzo, Ildebrando Appollonio, Federico Verde, Nicola Ticozzi, Vincenzo Silani, Virginia E. Sturm, Katherine P. Rankin, Maria Luisa Gorno‐Tempini, Barbara Poletti, Massimo Filippi, Federica Agosta European Journal of Neurology, 2025
Multi-pathway blood biomarkers to target and monitor multidimensional prevention of cognitive and functional decline (nested in the IN-TeMPO study framed within the world-wide FINGERS network) Gessica Sala, Luca Cuffaro, Federico Emanuele Pozzi, Simona Andreoni, Chiara Bazzini, Elisa Conti, Chiara Paola Zoia, Simone Beretta, Lucio Tremolizzo, Giuseppe Bellelli, Chukwuma Okoye, Maria Cristina Ferrara, Annamaria De Luca, Roberta Lenti, Paola Mantuano, Paola Pontrelli, Alessandra Stasi, Giovanni Defazio, Vincenzo Solfrizzi, Lucilla Crudele, Cristina Airoldi, Ferdinando Chiaradonna, Maria Pia Longhese, Giovanni Messina, Antonino Natalello, Ivan Orlandi, Alessandra Aloisi, Simonetta Capone, Assunta Ingannato, Benedetta Nacmias, Daniela Capello, Francesca Mangialasche, Carlo Ferrarese Frontiers in Aging Neuroscience, 2025
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data Sara Saez-Atienzar, Cleide dos Santos Souza, Ruth Chia, Selina N. Beal, Ileana Lorenzini, Ruili Huang, Jennifer Levy, Camelia Burciu, Jinhui Ding, J. Raphael Gibbs, Ashley Jones, Ramita Dewan, Viviana Pensato, Silvia Peverelli, Lucia Corrado, Joke J.F.A. van Vugt, Wouter van Rheenen, Ceren Tunca, Elif Bayraktar, Menghang Xia, Robert H. Baloh, Robert Bowser, Christopher B. Brady, Alexis Brice, James Broach, William Camu, Ruth Chia, Adriano Chio, John Cooper-Knock, Daniele Cusi, Jinhui Ding, Carsten Drepper, Vivian E. Drory, Travis L. Dunckley, Eva Feldman, Mary Kay Floeter, Pietro Fratta, Glenn Gerhard, J. Raphael Gibbs, Summer B. Gibson, Jonathan D. Glass, Stephen A. Goutman, John Hardy, Matthew B. Harms, Terry D. Heiman-Patterson, Lilja Jansson, Janine Kirby, Hannu Laaksovirta, John E. Landers, Francesco Landi, Isabelle Le Ber, Serge Lumbroso, Claire Guissart, Daniel JL. MacGowan, Nicholas J. Maragakis, Gabriele Mora, Kevin Mouzat, Liisa Myllykangas, Richard W. Orrell, Lyle W. Ostrow, Stuart Pickering-Brown, Erik P. Pioro, Stefan M. Pulst, John M. Ravits, Alan E. Renton, Wim Robberecht, Ekaterina Rogaeva, Jeffrey D. Rothstein, Erika Salvi, Sonja W. Scholz, Michael Sendtner, Pamela J. Shaw, Katie C. Sidle, Zachary Simmons, David J. Stone, Pentti J. Tienari, Bryan J. Traynor, John Q. Trojanowski, Juan C. Troncoso, Miko Valori, Philip Van Damme, Vivianna M. Van Deerlin, Ludo Van Den Bosch, Lorne Zinman, Stefania M. Angelocola, Francesco P. Ausiello, Marco Barberis, Ilaria Bartolomei, Stefania Battistini, Enrica Bersano, Giulia Bisogni, Giuseppe Borghero, Maura Brunetti, Corrado Cabona, Andrea Calvo, Fabrizio Canale, Antonio Canosa, Teresa A. Cantisani, Margherita Capasso, Claudia Caponnetto, Patrizio Cardinali, Paola Carrera, Federico Casale, Adriano Chio, Tiziana Colletti, Francesca L. Conforti, Amelia Conte, Elisa Conti, Massimo Corbo, Stefania Cuccu, Eleonora Dalla Bella, Eustachio D'Errico, Giovanni DeMarco, Raffaele Dubbioso, Carlo Ferrarese, Pilar M. Ferraro, Massimo Filippi, Nicola Fini, Gianluca Floris, Giuseppe Fuda, Salvatore Gallone, Giulia Gianferrari, Fabio Giannini, Maurizio Grassano, Lucia Greco, Barbara Iazzolino, Alessandro Introna, Vincenzo La Bella, Serena Lattante, Giuseppe Lauria, Rocco Liguori, Giancarlo Logroscino, Francesco O. Logullo, Christian Lunetta, Paola Mandich, Jessica Mandrioli, Umberto Manera, Fiore Manganelli, Giuseppe Marangi, Kalliopi Marinou, Maria Giovanna Marrosu, Ilaria Martinelli, Sonia Messina, Cristina Moglia, Maria Rosaria Monsurrò, Gabriele Mora, Lorena Mosca, Maria R. Murru, Paola Origone, Carla Passaniti, Cristina Petrelli, Antonio Petrucci, Angelo Pirisi, Susanna Pozzi, Maura Pugliatti, Angelo Quattrini, Claudia Ricci, Giulia Riolo, Nilo Riva, Massimo Russo, Mario Sabatelli, Paolina Salamone, Marco Salivetto, Fabrizio Salvi, Marialuisa Santarelli, Luca Sbaiz, Riccardo Sideri, Isabella Simone, Cecilia Simonini, Rossella Spataro, Raffaella Tanel, Gioacchino Tedeschi, Anna Ticca, Antonella Torriello, Stefania Tranquilli, Lucio Tremolizzo, Francesca Trojsi, Rosario Vasta, Veria Vacchiano, Giuseppe Vita, Paolo Volanti, Marcella Zollino, Elisabetta Zucchi, Vincenzo Silani, Isabella Fogh, Nicola Ticozzi, Antonia Ratti, Cinzia Tiloca, Silvia Peverelli, Cinzia Gellera, Giuseppe Lauria Pinter, Franco Taroni, Viviana Pensato, Barbara Castellotti, Giacomo P. Comi, Stefania Corti, Roberto Del Bo, Cristina Cereda, Mauro Ceroni, Stella Gagliardi, Lucia Corrado, Letizia Mazzini, Gianni Sorarù, Flavia Raggi, Gabriele Siciliano, Costanza Simoncini, Annalisa Lo Gerfo, Massimiliano Filosto, Maurizio Inghilleri, Alessandra Ferlini, Philip Van Damme, Philippe Corcia, Philippe Couratier, Patrick Vourc'h, Orla Hardiman, Russell McLaughlin, Marc Gotkine, Vivian Drory, Nicola Ticozzi, Vincenzo Silani, Jan H. van den Veldink, Leonard H. Berg, Mamede de Carvalho, Jesus S. Mora Pardina, Monica Povedano, Peter Andersen, Markus Weber, Ayşe Nazlı Başak, Ammar Al-Chalabi, Chris Shaw, Pamela J. Shaw, Karen E. Morrison, John E. Landers, Jonathan D. Glass, Alfredo Iacoangeli, Aleksey Shatunov, Cinzia Tiloca, Nicola Ticozzi, Federico Verde, Letizia Mazzini, Kevin Kenna, Ahmad Al Khleifat, Sarah Opie-Martin, Flavia Raggi, Massimiliano Filosto, Stefano Cotti Piccinelli, Alessandro Padovani, Stella Gagliardi, Maurizio Inghilleri, Alessandra Ferlini, Rosario Vasta, Andrea Calvo, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Jessica Mandrioli, Gabriele Mora, Christian Lunetta, Raffaella Tanel, Francesca Trojsi, Patrizio Cardinali, Salvatore Gallone, Maura Brunetti, Daniela Galimberti, Maria Serpente, Chiara Fenoglio, Elio Scarpini, Giacomo P. Comi, Stefania Corti, Roberto Del Bo, Mauro Ceroni, Giuseppe Lauria Pinter, Franco Taroni, Eleonora Dalla Bella, Enrica Bersano, Charles J. Curtis, Sang Hyuck Lee, Raymond Chung, Hamel Patel, Karen E. Morrison, Johnathan Cooper-Knock, Pamela J. Shaw, Gerome Breen, Richard J.B. Dobson, Clifton L. Dalgard, Adelani Adeleye, Camille Alba, Dagmar Bacikova, Clifton L. Dalgard, Daniel N. Hupalo, Elisa McGrath Martinez, Anthony R. Soltis, Gauthaman Sukumar, Coralie Viollet, Matthew D. Wilkerson, Sonja W. Scholz, Ammar Al-Chalabi, Leonard H. van den Berg, Russell McLaughlin, Orla Hardiman, Cristina Cereda, Gianni Sorarù, Sandra D’Alfonso, Siddharthan Chandran, Suvankar Pal, Antonia Ratti, Cinzia Gellera, Kory Johnson, Tara Doucet-O’Hare, Nicholas Pasternack, Tongguang Wang, Avindra Nath, Gabriele Siciliano, Vincenzo Silani, Ayşe Nazlı Başak, Jan H. Veldink, William Camu, Jonathan D. Glass, John E. Landers, Adriano Chiò, Rita Sattler, Christopher E. Shaw, Laura Ferraiuolo, Isabella Fogh, Bryan J. Traynor Cell Genomics, 2024
A genome-wide association meta-analysis of all-cause and vascular dementia Bernard Muralidharan Xueqiu Aniket Vincent Itziar Olivia J Fongang Sargurupremraj Jian Mishra Damotte de Roja, Bernard Fongang, M. Sargurupremraj, X. Jian, Aniket Mishra, V. Damotte, I. de Rojas, O. Skrobot, J. Bis, Kang‐Hsien Fan, Erin Jacobsen, Gloria Hoi‐Yee Li, Jingyun Yang, Bizzarro Alessandra, Lauria Alessandra, S. Hilal, J. Chong, Yuek Ling Chai, M. Knol, M. P. Concas, Girotto Giorgia, M. Riaz, Chenglong Yu, Alexander Guojonsson, P. Lacaze, A. Naj, Monica Gireud-Goss, Yannick N. Wadop, A. Soumaré, V. Bouteloup, V. Gudnason, Petronilla Battista, Aurora Santin, B. Spedicati, R. Sardone, L. Launer, Jan Bressler, Rebecca F. Gottesman, Quentin Le Grand, Ilana Caro, Gennady V. Roshchupkin, H. Leonard, Chaojie Yang, Traci M. Bartz, Constance Bordes, P. Ridker, Mirjam I Geerlings, Natalie C. Gasca, A. Manichaikul, M. Nalls, Steve Rich, C. O. Schmidt, Stella Trompet, J. van Setten, M. van Vugt, Hans J. Grabe, J. Jukema, I. Rissanen, Sylvia Wassertheil-Smoller, M. A. Ikram, Eleanor M. Simonsick, W. Longstreth, D. Chasman, Jerome I. Rotter, Naveed Sattar, D. Stott, Eric J Shiroma, S. Sigurdsson, M. Ghanbari, Ulf Schminke, E. Boerwinkle, Hugo J Aparicio, A. Beiser, J. R. Romero, Vasileios Lioutas, Ruiqi Wang, C. Sarnowski, A. Teumer, U. Völker, T. Mosley, M. Marquié, P. García-González, Clàudia Olivé, R. Puerta, A. Cano, O. Sotolongo-Grau, Sergi Valero, Vanesa Verónica Pytel, M. Rosende‐Roca, M. Alegret, L. Tárraga, M. Boada, Á. Carracedo, E. Franco-Macías, G. Pinol-Ripoll, G. García-Ribas, Jordi Pérez-Tur, J. L. Royo, J. M. García-Alberca, L. M. Real, M. E. Saéz, M. Bullido, Miguel Calero, Miguel Medina, P. Mir, P. Sánchez-Juan, P. Pástor, V. Álvarez, B. Grenier‐Boley, Fahri Küçükali, S. van der Lee, Oliver Peters, A. Schneider, M. Dichgans, D. Rujescu, J. Deckert, E. Düzel, J. Wiltfang, M. Wagner, T. Grimmer, N. Scarmeas, F. Moreno, R. Sánchez-Valle, L. M. Real, E. Rodríguez-Rodríguez, A. L. de Munain, A. de Mendonça, J. Hort, Caroline Graff, Goran Papenberg, V. Giedraitis, B. Nordestgaard, H. Soininen, M. Kivipelto, A. Haapasalo, G. Nicolas, F. Pasquier, O. Hanon, Edna Grünblatt, D. Galimberti, Beatrice Arosio, Patrizia Mecocci, A. Squassina, L. Tremolizzo, I. Rainero, Davide Seripa, Julie Williams, Philippe Amouyel, Frank Jessen, Tsolaki Magda, R. Frikke-Schmidt, K. Sleegers, S. Engelborghs, Rik Vandenberghe, M. Ingelsson, G. Rossi, Mikko Hiltunen, R. Sims, Magdalena Gugała-Iwaniuk, Mitchell K. P. Lai, N. Venketasubramanian, B. Tan, A. Cefalù, Nicola J Armstrong, R. Baschi, Régis Bordet, Anne-Marie Bordet, H. Brodaty, S. Djurovic, G. D’Onofrio, Margaret Esiri, P. Gele, Teresa Juarez‐Cedillo, R. Kalaria, Pekka J. Karhunen, J. Laczó, O. Lerch, C. Masullo, Karen Mather, V. Maťoška, S. Melkas, Roberto Monastero, K. Numbers, Francesco Panza, T. Polvikoski, Joe Quinn, A. Rongve, P.S. Sachdev, M. Scamosci, A. Thalamuthu, A. Tybjærg‐Hansen, M. Vyhnálek, Shawn K. Westaway, Amy E. Martinsen, A. Skogholt, C. Willer, E. Stordal, G. Bråthen, J. B. Nielsen, Lars G Fritsche, Laurent F. Thomas, L. Pedersen, Maiken E. Gabrielsen, O. Drange, S. Sando, T. W. Meisingset, Geneviève Chêne, Wei Zhou, C. Tzourio, Adrienne Tin, Oscar L Lopez, Haan Mary, Allison Aiello, S. Børte, Ingunn Bosnes, Cornelia M. Van Duijn, Ching‐Lung Cheung, David A. Bennett, Christopher Chen, M. Kamboh, C. Satizabal, M. Ikram, Hieab H.H. Adams, Yang Qiong, Gerard D. Schellenberg, Geir Selbæk, K. Hveem, Ole A Andreassen, Alfredo Ramirez, Carole Dufouil, W. M. van der Flier, J. Zwart, S. Debette, Myriam Fornage, B. Winsvold, Jeanc Lambert, Agustin Ruiz, Patrick G. Kehoe, Galit Weinstein, Sudha Seshadri Alzheimer S and Dementia, 2024
Plasma and cerebrospinal fluid cholesterol esterification is hampered in Alzheimer’s disease Marta Turri, Elisa Conti, Chiara Pavanello, Francesco Gastoldi, Marcella Palumbo, Franco Bernini, Vittoria Aprea, Francesca Re, Alberto Barbiroli, Davide Emide, Daniela Galimberti, Lucio Tremolizzo, Francesca Zimetti, Laura Calabresi, Simona Andreoni, Ildebrando Appollonio, Fulvio Da Re, Carlo Ferrarese, Aristotelis Karantzoulis, Giulia Negro, Federico Emanuele Pozzi, Giulia Remoli, Benedetta Storti, Chiara Paola Zoia, and Alzheimer S Research and Therapy, 2023
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The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations Antonio Canosa, Andrea Calvo, Gabriele Mora, Cristina Moglia, Maura Brunetti, Marco Barberis, Giuseppe Borghero, Claudia Caponnetto, Francesca Trojsi, Rossella Spataro, Paolo Volanti, Isabella Laura Simone, Fabrizio Salvi, Francesco Ottavio Logullo, Nilo Riva, Lucio Tremolizzo, Fabio Giannini, Jessica Mandrioli, Raffaella Tanel, Maria Rita Murru, Paola Mandich, Francesca Luisa Conforti, Marcella Zollino, Mario Sabatelli, Claudia Tarlarini, Christian Lunetta, Letizia Mazzini, Sandra D’Alfonso, Nathalie Guy, Vincent Meininger, Pierre Clavelou, William Camu, Adriano Chiò, and Biomedicines, 2023
Standardization of the Italian ALS-CBS™ Caregiver Behavioral Questionnaire Edoardo Nicolò Aiello, Federica Solca, Lucia Catherine Greco, Antonino La Tona, Silvia Torre, Laura Carelli, Claudia Morelli, Alberto Doretti, Eleonora Colombo, Stefano Messina, Debora Pain, Alice Radici, Andrea Lizio, Jacopo Casiraghi, Federica Cerri, Agostino Brugnera, Angelo Compare, Susan Woolley, Jennifer Murphy, Lucio Tremolizzo, Ildebrando Appollonio, Federico Verde, Valeria Ada Sansone, Christian Lunetta, Vincenzo Silani, Nicola Ticozzi, Barbara Poletti Frontiers in Psychology, 2023
BPSDiary study protocol: a multi-center randomized controlled trial to compare the efficacy of a BPSD diary vs. standard care in reducing caregiver’s burden Federico Emanuele Pozzi, Luisa Calì, Fabrizia D'Antonio, Arianna Ida Altomare, Micaela Sepe Monti, Massimiliano Panigutti, Adolfo Di Crosta, Rocco Palumbo, Laura Bonanni, Valentina Carlucci, Cinzia Bussè, Annachiara Cagning, Daniele Urso, Davide Vilella, Giancarlo Logroscino, Margherita Alberoni, Angelo Bellinvia, Elisabetta Farina, Francesca de Rino, Armando Gavazzi, Marta Zuffi, Giuseppe Bruno, Valentina Bessi, Matteo Cotta Ramusino, Giulia Perini, Alfredo Costa, Carlo Ferrarese, Ildebrando Appollonio, Lucio Tremolizzo Frontiers in Dementia, 2023
Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by HLA-DRB1∗04 subtypes Yann Le Guen, Guo Luo, Aditya Ambati, Vincent Damotte, Iris Jansen, Eric Yu, Aude Nicolas, Itziar de Rojas, Thiago Peixoto Leal, Akinori Miyashita, Céline Bellenguez, Michelle Mulan Lian, Kayenat Parveen, Takashi Morizono, Hyeonseul Park, Benjamin Grenier-Boley, Tatsuhiko Naito, Fahri Küçükali, Seth D. Talyansky, Selina Maria Yogeshwar, Vicente Sempere, Wataru Satake, Victoria Alvarez, Beatrice Arosio, Michael E. Belloy, Luisa Benussi, Anne Boland, Barbara Borroni, María J. Bullido, Paolo Caffarra, Jordi Clarimon, Antonio Daniele, Daniel Darling, Stéphanie Debette, Jean-François Deleuze, Martin Dichgans, Carole Dufouil, Emmanuel During, Emrah Düzel, Daniela Galimberti, Guillermo Garcia-Ribas, José María García-Alberca, Pablo García-González, Vilmantas Giedraitis, Oliver Goldhardt, Caroline Graff, Edna Grünblatt, Olivier Hanon, Lucrezia Hausner, Stefanie Heilmann-Heimbach, Henne Holstege, Jakub Hort, Yoo Jin Jung, Deckert Jürgen, Silke Kern, Teemu Kuulasmaa, Kun Ho Lee, Ling Lin, Carlo Masullo, Patrizia Mecocci, Shima Mehrabian, Alexandre de Mendonça, Mercè Boada, Pablo Mir, Susanne Moebus, Fermin Moreno, Benedetta Nacmias, Gael Nicolas, Shumpei Niida, Børge G. Nordestgaard, Goran Papenberg, Janne Papma, Lucilla Parnetti, Florence Pasquier, Pau Pastor, Oliver Peters, Yolande A. L. Pijnenburg, Gerard Piñol-Ripoll, Julius Popp, Laura Molina Porcel, Raquel Puerta, Jordi Pérez-Tur, Innocenzo Rainero, Inez Ramakers, Luis M. Real, Steffi Riedel-Heller, Eloy Rodriguez-Rodriguez, Owen A. Ross, Jose Luís Royo, Dan Rujescu, Nikolaos Scarmeas, Philip Scheltens, Norbert Scherbaum, Anja Schneider, Davide Seripa, Ingmar Skoog, Vincenzo Solfrizzi, Gianfranco Spalletta, Alessio Squassina, John van Swieten, Raquel Sánchez-Valle, Eng-King Tan, Thomas Tegos, Charlotte Teunissen, Jesper Qvist Thomassen, Lucio Tremolizzo, Martin Vyhnalek, Frans Verhey, Margda Waern, Jens Wiltfang, Jing Zhang, Henrik Zetterberg, Kaj Blennow, Zihuai He, Julie Williams, Philippe Amouyel, Frank Jessen, Patrick G. Kehoe, Ole A. Andreassen, Cornelia Van Duin, Magda Tsolaki, Pascual Sánchez-Juan, Ruth Frikke-Schmidt, Kristel Sleegers, Tatsushi Toda, Anna Zettergren, Martin Ingelsson, Yukinori Okada, Giacomina Rossi, Mikko Hiltunen, Jungsoo Gim, Kouichi Ozaki, Rebecca Sims, Jia Nee Foo, Wiesje van der Flier, Takeshi Ikeuchi, Alfredo Ramirez, Ignacio Mata, Agustín Ruiz, Ziv Gan-Or, Jean-Charles Lambert, Michael D. Greicius, Emmanuel Mignot, Céline Bellenguez, Fahri Küçükali, Iris Jansen, Victor Andrade, Sonia Moreno-Grau, Najaf Amin, Benjamin Grenier-Boley, Rafael Campos-Martin, Peter A. Holmans, Anne Boland, Luca Kleineidam, Vincent Damotte, Sven J. van der Lee, Teemu Kuulasmaa, Itziar de Rojas, Amber Yaqub, Ivana Prokic, Marcos R Costa, Julien Chapuis, Shahzad Ahmad, Vilmantas Giedraitis, Dag Aarsland, Pablo Garcia-Gonzalez, Carla Abdelnour, Emilio Alarcón-Martín, Daniel Alcolea, Montserrat Alegret, Ignacio Alvarez, Victoria Álvarez, Nicola J. Armstrong, Tsolaki Anthoula, Ildebrando Appollonio, Marina Arcaro, Silvana Archetti, Alfonso Arias Pastor, Beatrice Arosio, Lavinia Athanasiu, Henri Bailly, Nerisa Banaj, Miquel Baquero, Ana Belén Pastor, Luisa Benussi, Claudine Berr, Céline Besse, Valentina Bessi, Giuliano Binetti, Alessandra Bizarro, Rafael Blesa, Mercè Boada, Barbara Borroni, Silvia Boschi, Paola Bossù, Geir Bråthen, Catherine Bresner, Henry Brodaty, Keeley J. Brookes, Luis Ignacio Brusco, Dolores Buiza-Rueda, Katharina BÛrger, Vanessa Burholt, Miguel Calero, Geneviève Chene, Ángel Carracedo, Roberta Cecchetti, Laura Cervera-Carles, Camille Charbonnier, Caterina Chillotti, Simona Ciccone, Jurgen A.H.R. Claassen, Jordi Clarimon, Christopher Clark, Elisa Conti, Anaïs Corma-Gómez, Emanuele Costantini, Carlo Custodero, Delphine Daian, Maria Carolina Dalmasso, Antonio Daniele, Efthimios Dardiotis, Jean-François Dartigues, Peter Paul de Deyn, Stéphanie Debette, Jürgen Deckert, Teodoro del Ser, Nicola Denning, Martin Dichgans, Janine Diehl-Schmid, Mónica Diez-Fairen, Paolo Dionigi Rossi, Srdjan Djurovic, Emmanuelle Duron, Emrah Düzel, Carole Dufouil, Valentina Escott-Price, Ana Espinosa, Michael Ewers, Marta Fernández-Fuertes, Catarina B Ferreira, Evelyn Ferri, Bertrand Fin, Peter Fischer, Tormod Fladby, Klaus Fließbach, Juan Fortea, Silvia Fostinelli, Nick C. Fox, Emlio Franco-Macías, María J. Bullido, Ana Frank-García, Lutz Froelich, Daniela Galimberti, Jose Maria García-Alberca, Pablo García-González, Sebastian Garcia-Madrona, Guillermo Garcia-Ribas, Roberta Ghidoni, Ina Giegling, Giaccone Giorgio, Oliver Goldhardt, Antonio González-Pérez, Caroline Graff, Giulia Grande, Emma Green, Timo Grimmer, Edna Grünblatt, Tamar Guetta-Baranes, Annakaisa Haapasalo, Georgios Hadjigeorgiou, Harald Hampel, Olivier Hanon, John Hardy, Annette M. Hartmann, Lucrezia Hausner, Janet Harwood, Stefanie Heilmann-Heimbach, Seppo Helisalmi, Michael T. Heneka, Isabel Hernández, Martin J. Herrmann, Per Hoffmann, Clive Holmes, Henne Holstege, Raquel Huerto Vilas, Marc Hulsman, Charlotte Johansson, Lena Kilander, Anne Kinhult Ståhlbom, Miia Kivipelto, Anne Koivisto, Johannes Kornhuber, Mary H. Kosmidis, Carmen Lage, Erika J Laukka, Alessandra Lauria, Jenni Lehtisalo, Ondrej Lerch, Alberto Lleó, Adolfo Lopez de Munain, Malin Löwemark, Lauren Luckcuck, Juan Macías, Catherine A. MacLeod, Wolfgang Maier, Francesca Mangialasche, Spallazzi Marco, Marta Marquié, Rachel Marshall, Angel Martín Montes, Carmen Martínez Rodríguez, Carlo Masullo, Simon Mead, Patrizia Mecocci, Miguel Medina, Alun Meggy, Shima Mehrabian, Silvia Mendoza, Manuel Menéndez-González, Pablo Mir, Susanne Moebus, Merel Mol, Laura Molina-Porcel, Laura Montrreal, Laura Morelli, Fermin Moreno, Kevin Morgan, Markus M Möthen, Carolina Muchnik, Benedetta Nacmias, Tiia Ngandu, Gael Nicolas, Børge G. Nordestgaard, Robert Olaso, Adelina Orellana, Michela Orsini, Gemma Ortega, Alessandro Padovani, Caffarra Paolo, Goran Papenberg, Lucilla Parnetti, Pau Pastor, Alba Pérez-Cordón, Jordi Pérez-Tur, Pierre Pericard, Oliver Peters, Yolande A.L. Pijnenburg, Juan A Pineda, Gerard Piñol-Ripoll, Claudia Pisanu, Thomas Polak, Julius Popp, Danielle Posthuma, Josef Priller, Raquel Puerta, Olivier Quenez, Inés Quintela, Jesper Qvist Thomassen, Alberto Rábano, Innocenzo Rainero, Inez Ramakers, Luis M Real, Marcel J.T. 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Schott, Geir Selbæk, Davide Seripa, Alexey A Shadrin, Olivia Skrobot, Hilkka Soininen, Vincenzo Solfrizzi, Alina Solomon, Sandro Sorbi, Oscar Sotolongo-Grau, Gianfranco Spalletta, Annika Spottke, Alessio Squassina, Eystein Stordal, Juan Pablo Tartan, Lluís Tárraga, Niccolo Tesí, Anbupalam Thalamuthu, Tegos Thomas, Latchezar Traykov, Lucio Tremolizzo, Anne Tybjærg-Hansen, Andre Uitterlinden, Abbe Ullgren, Ingun Ulstein, Sergi Valero, Aad van der Lugt, Jasper Van Dongen, Jeroen van Rooij, John van Swieten, Rik Vandenberghe, Frans Verhey, Jean-Sébastien Vidal, Jonathan Vogelgsang, Martin Vyhnalek, Michael Wagner, David Wallon, Leonie Weinhold, Jens Wiltfang, Gill Windle, Bob Woods, Mary Yannakoulia, Miren Zulaica, Jan Laczo, Vaclav Matoska, Maria Serpente, Francesca Assogna, Fabrizio Piras, Federica Piras, Valentina Ciullo, Jacob Shofany, Carlo Ferrarese, Simona Andreoni, Gessica Sala, Chiara Paola Zoia, Maria Del Zompo, Alberto Benussi, Patrizia Bastiani, Mari Takalo, Teemu Natunen, Tiina Laatikainen, Jaakko Tuomilehto, Riitta Antikainen, Timo Strandberg, Jaana Lindström, Markku Peltonen, Richard Abraham, Ammar Al-Chalabi, Nicholas J. Bass, Carol Brayne, Kristelle S. Brown, John Collinge, David Craig, Pangiotis Deloukas, Nick Fox, Amy Gerrish, Michael Gill, Rhian Gwilliam, John Hardy, Denise Harold, Paul Hollingworth, Jarret A. Johnston, Lesley Jones, Brian Lawlor, Gill Livingston, Simon Lovestone, Michelle Lupton, Aoibhinn Lynch, David Mann, Bernadette McGuinness, Andrew McQuillin, Michael C. O’Donovan, Michael J. Owen, Peter Passmore, John F Powell, Petra Proitsi, Martin Rossor, Christopher E. Shaw, A. David Smith, Hugh Gurling, Stephen Todd, Catherine Mummery, Nathalie Ryan, Giordano Lacidogna, Ad Adarmes-Gómez, Ana Mauleón, Ana Pancho, Anna Gailhajenet, Asunción Lafuente, D Macias-García, Elvira Martín, Esther Pelejà, F Carrillo, Isabel Sastre Merlín, L Garrote-Espina, Liliana Vargas, M Carrion-Claro, M Marín, Ma Labrador, Mar Buendia, María Dolores Alonso, Marina Guitart, Mariona Moreno, Marta Ibarria, Mt Periñán, Nuria Aguilera, P Gómez-Garre, Pilar Cañabate, R Escuela, R Pineda-Sánchez, R Vigo-Ortega, S Jesús, Silvia Preckler, Silvia Rodrigo-Herrero, Susana Diego, Alessandro Vacca, Fausto Roveta, Nicola Salvadori, Elena Chipi, Henning Boecker, Christoph Laske, Robert Perneczky, Costas Anastasiou, Daniel Janowitz, Rainer Malik, Anna Anastasiou, Kayenat Parveen, Carmen Lage, Sara López-García, Anna Antonell, Kalina Yonkova Mihova, Diyana Belezhanska, Heike Weber, Silvia Kochen, Patricia Solis, Nancy Medel, Julieta Lisso, Zulma Sevillano, Daniel G Politis, Valeria Cores, Carolina Cuesta, Cecilia Ortiz, Juan Ignacio Bacha, Mario Rios, Aldo Saenz, Mariana Sanchez Abalos, Eduardo Kohler, Dana Lis Palacio, Ignacio Etchepareborda, Matias Kohler, Gisela Novack, Federico Ariel Prestia, Pablo Galeano, Eduardo M. Castaño, Sandra Germani, Carlos Reyes Toso, Matias Rojo, Carlos Ingino, Carlos Mangone, Sebastiaan Engelborghs, Tagliavini Fabrizio, Sune Fallgaard Nielsen, Lucia Farotti, Chiara Fenoglio, Geert Jan Biessels, Seth Love, Patrick G. Kehoe, Florence Pasquier, Christine Van Broeckhoven, David C. Rubinsztein, Stefan Teipel, Nathalie Fievet, Vincent Deramecourt, Charlotte Forsell, Håkan Thonberg, Maria Bjerke, Ellen De Roeck, María Teresa Martínez-Larrad, Natividad Olivar, Mohsen Ghanbari, Perminder Sachdev, Karen Mather, Frank Jessen, M. Arfan Ikram, Alexandre de Mendonça, Jakub Hort, Tsolaki Magda, Philippe Amouyel, Julie Williams, Ruth Frikke-Schmidt, Jordi Clarimon, Jean-François Deleuze, Giacomina Rossi, Ole A. Andreassen, Martin Ingelsson, Mikko Hiltunen, Kristel Sleegers, Cornelia M. van Duijn, Rebecca Sims, Wiesje M. van der Flier, Agustín Ruiz, Alfredo Ramirez, Jean-Charles Lambert, N Aguilera, E Alarcon, M Alegret, M Boada, M Buendia, A Cano, P Cañabate, A Carracedo, A Corbatón-Anchuelo, I de Rojas, S Diego, A Espinosa, A Gailhajenet, P García-González, M Guitart, A González-Péerez, M Ibarria, A Lafuente, J Macias, O Maroñas, E Martín, MT Martínez, M Marquié, L Montrreal, S Moreno-Grau, M Moreno, R. 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Nöthen, Manuel Mayhaus, Matthias Riemenschneider, Sabrina Pinchler, Thomas Feulner, Wei Gu, Hendrik den Bussche, Martin Scherer, Jens Wiltfang, Johannes Kornhuber, Michael Hüll, Lutz Frölich, H-Erich Wichmann, Karl-Heinz Jöckel, Susanne Moebus, Steffi Riedel-Heller, John Kauwe, John Morris, Kevin Mayo, Magda Tsolaki, Michael O’Donovan, Lesley Jones, Michael Owen, Valentina Escott-Price, Alfredo Ramirez, Peter Holmans, Julie Williams, Jia Nee Foo, Elaine Guo Yan Chew, Sun Ju Chung, Rong Peng, Yinxia Chao, Louis CS Tan, Moses Tandiono, Michelle M Lian, Ebonne Y Ng, Kumar-M. Prakash, Wing-Lok Au, Wee-Yang Meah, Shi Qi Mok, Azlina Ahmad Annuar, Anne YY Chan, Ling Chen, Yongping Chen, Beom S Jeon, Lulu Jiang, Jia Lun Lim, Juei-Jueng Lin, Chunfeng Liu, Chengjie Mao, Vincent Mok, Zhong Pei, Hui-Fang Shang, Chang-He Shi, Kyuyoung Song, Ai Huey Tan, Yih-Ru Wu, Yu-ming Xu, Renshi Xu, Yaping Yan, Jing Yang, Bao Rong Zhang, Woon-Puay Koh, Shen-Yang Lim, Chiea Chuen Khor, Jianjun Liu, Eng-King Tan, , , , , , , and Proceedings of the National Academy of Sciences of the United States of America, 2023
Resting state functional brain networks associated with emotion processing in frontotemporal lobar degeneration Elisa Canu, Davide Calderaro, Veronica Castelnovo, Silvia Basaia, Maria Antonietta Magno, Nilo Riva, Giuseppe Magnani, Francesca Caso, Paola Caroppo, Sara Prioni, Cristina Villa, Debora Pain, Gabriele Mora, Lucio Tremolizzo, Ildebrando Appollonio, Barbara Poletti, Vincenzo Silani, Massimo Filippi, Federica Agosta Molecular Psychiatry, 2022
Association of Rare APOE Missense Variants V236E and R251G with Risk of Alzheimer Disease Yann Le Guen, Michael E. Belloy, Benjamin Grenier-Boley, Itziar de Rojas, Atahualpa Castillo-Morales, Iris Jansen, Aude Nicolas, Céline Bellenguez, Carolina Dalmasso, Fahri Küçükali, Sarah J. Eger, Katrine Laura Rasmussen, Jesper Qvist Thomassen, Jean-François Deleuze, Zihuai He, Valerio Napolioni, Philippe Amouyel, Frank Jessen, Patrick G. Kehoe, Cornelia van Duijn, Magda Tsolaki, Pascual Sánchez-Juan, Kristel Sleegers, Martin Ingelsson, Giacomina Rossi, Mikko Hiltunen, Rebecca Sims, Wiesje M. van der Flier, Alfredo Ramirez, Ole A. Andreassen, Ruth Frikke-Schmidt, Julie Williams, Agustín Ruiz, Jean-Charles Lambert, Michael D. Greicius, Beatrice Arosio, Luisa Benussi, Anne Boland, Barbara Borroni, Paolo Caffarra, Delphine Daian, Antonio Daniele, Stéphanie Debette, Carole Dufouil, Emrah Düzel, Daniela Galimberti, Vilmantas Giedraitis, Timo Grimmer, Caroline Graff, Edna Grünblatt, Olivier Hanon, Lucrezia Hausner, Stefanie Heilmann-Heimbach, Henne Holstege, Jakub Hort, Deckert Jürgen, Teemu Kuulasmaa, Aad van der Lugt, Carlo Masullo, Patrizia Mecocci, Shima Mehrabian, Alexandre de Mendonça, Susanne Moebus, Benedetta Nacmias, Gael Nicolas, Robert Olaso, Goran Papenberg, Lucilla Parnetti, Florence Pasquier, Oliver Peters, Yolande A. L. Pijnenburg, Julius Popp, Innocenzo Rainero, Inez Ramakers, Steffi Riedel-Heller, Nikolaos Scarmeas, Philip Scheltens, Norbert Scherbaum, Anja Schneider, Davide Seripa, Hilkka Soininen, Vincenzo Solfrizzi, Gianfranco Spalletta, Alessio Squassina, John van Swieten, Thomas J. Tegos, Lucio Tremolizzo, Frans Verhey, Martin Vyhnalek, Jens Wiltfang, Mercè Boada, Pablo García-González, Raquel Puerta, Luis M. Real, Victoria Álvarez, María J. Bullido, Jordi Clarimon, José María García-Alberca, Pablo Mir, Fermin Moreno, Pau Pastor, Gerard Piñol-Ripoll, Laura Molina-Porcel, Jordi Pérez-Tur, Eloy Rodríguez-Rodríguez, Jose Luís Royo, Raquel Sánchez-Valle, Martin Dichgans, Dan Rujescu, and JAMA Neurology, 2022
Validation of the DYALS (dysphagia in amyotrophic lateral sclerosis) questionnaire for the evaluation of dysphagia in ALS patients Luca Diamanti, Paola Borrelli, Raffaele Dubbioso, Margherita Capasso, Claudia Morelli, Christian Lunetta, Antonio Petrucci, Gabriele Mora, Paolo Volanti, Maurizio Inghilleri, Lucio Tremolizzo, Jessica Mandrioli, Letizia Mazzini, Marcella Vedovello, Gabriele Siciliano, Massimiliano Filosto, Sabrina Matà, Cristina Montomoli, Giuliana Capece, Andrea Ghezzi, Giuseppe Fiamingo, Francesco Pio Ausiello, Laura Ferri, Alberto Doretti, Eleonora Colombo, Gianluca Demirtzidis, Vittorio Riso, Federica Bianchi, Micol Castellari, Francesca Madonia, Marco Ceccanti, Chiara Cambieri, Laura Libonati, Gaia Fanella, Carlo Ferrarese, Annalisa Gessani, Carla Budriesi, Fabiola De Marchi, Francesca Bianchi, Cecilia Carlesi, and Neurological Sciences, 2022
New insights into the genetic etiology of Alzheimer’s disease and related dementias Céline Bellenguez, Fahri Küçükali, Iris E. Jansen, Luca Kleineidam, Sonia Moreno-Grau, Najaf Amin, Adam C. Naj, Rafael Campos-Martin, Benjamin Grenier-Boley, Victor Andrade, Peter A. Holmans, Anne Boland, Vincent Damotte, Sven J. van der Lee, Marcos R. Costa, Teemu Kuulasmaa, Qiong Yang, Itziar de Rojas, Joshua C. Bis, Amber Yaqub, Ivana Prokic, Julien Chapuis, Shahzad Ahmad, Vilmantas Giedraitis, Dag Aarsland, Pablo Garcia-Gonzalez, Carla Abdelnour, Emilio Alarcón-Martín, Daniel Alcolea, Montserrat Alegret, Ignacio Alvarez, Victoria Álvarez, Nicola J. Armstrong, Anthoula Tsolaki, Carmen Antúnez, Ildebrando Appollonio, Marina Arcaro, Silvana Archetti, Alfonso Arias Pastor, Beatrice Arosio, Lavinia Athanasiu, Henri Bailly, Nerisa Banaj, Miquel Baquero, Sandra Barral, Alexa Beiser, Ana Belén Pastor, Jennifer E. Below, Penelope Benchek, Luisa Benussi, Claudine Berr, Céline Besse, Valentina Bessi, Giuliano Binetti, Alessandra Bizarro, Rafael Blesa, Mercè Boada, Eric Boerwinkle, Barbara Borroni, Silvia Boschi, Paola Bossù, Geir Bråthen, Jan Bressler, Catherine Bresner, Henry Brodaty, Keeley J. Brookes, Luis Ignacio Brusco, Dolores Buiza-Rueda, Katharina Bûrger, Vanessa Burholt, William S. Bush, Miguel Calero, Laura B. Cantwell, Geneviève Chene, Jaeyoon Chung, Michael L. Cuccaro, Ángel Carracedo, Roberta Cecchetti, Laura Cervera-Carles, Camille Charbonnier, Hung-Hsin Chen, Caterina Chillotti, Simona Ciccone, Jurgen A. H. R. 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Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1) Wouter van Rheenen, Rick A. A. van der Spek, Mark K. Bakker, Joke J. F. A. van Vugt, Paul J. Hop, Ramona A. J. Zwamborn, Niek de Klein, Harm-Jan Westra, Olivier B. Bakker, Patrick Deelen, Gemma Shireby, Eilis Hannon, Matthieu Moisse, Denis Baird, Restuadi Restuadi, Egor Dolzhenko, Annelot M. Dekker, Klara Gawor, Henk-Jan Westeneng, Gijs H. P. Tazelaar, Kristel R. van Eijk, Maarten Kooyman, Ross P. Byrne, Mark Doherty, Mark Heverin, Ahmad Al Khleifat, Alfredo Iacoangeli, Aleksey Shatunov, Nicola Ticozzi, Johnathan Cooper-Knock, Bradley N. Smith, Marta Gromicho, Siddharthan Chandran, Suvankar Pal, Karen E. Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Michael Sendtner, Thomas Meyer, Nazli Başak, Anneke J. van der Kooi, Antonia Ratti, Isabella Fogh, Cinzia Gellera, Giuseppe Lauria, Stefania Corti, Cristina Cereda, Daisy Sproviero, Sandra D’Alfonso, Gianni Sorarù, Gabriele Siciliano, Massimiliano Filosto, Alessandro Padovani, Adriano Chiò, Andrea Calvo, Cristina Moglia, Maura Brunetti, Antonio Canosa, Maurizio Grassano, Ettore Beghi, Elisabetta Pupillo, Giancarlo Logroscino, Beatrice Nefussy, Alma Osmanovic, Angelica Nordin, Yossef Lerner, Michal Zabari, Marc Gotkine, Robert H. Baloh, Shaughn Bell, Patrick Vourc’h, Philippe Corcia, Philippe Couratier, Stéphanie Millecamps, Vincent Meininger, François Salachas, Jesus S. Mora Pardina, Abdelilah Assialioui, Ricardo Rojas-García, Patrick A. Dion, Jay P. Ross, Albert C. Ludolph, Jochen H. Weishaupt, David Brenner, Axel Freischmidt, Gilbert Bensimon, Alexis Brice, Alexandra Durr, Christine A. M. Payan, Safa Saker-Delye, Nicholas W. 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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology Wouter van Rheenen, Rick A. A. van der Spek, Mark K. Bakker, Joke J. F. A. van Vugt, Paul J. Hop, Ramona A. J. Zwamborn, Niek de Klein, Harm-Jan Westra, Olivier B. Bakker, Patrick Deelen, Gemma Shireby, Eilis Hannon, Matthieu Moisse, Denis Baird, Restuadi Restuadi, Egor Dolzhenko, Annelot M. Dekker, Klara Gawor, Henk-Jan Westeneng, Gijs H. P. Tazelaar, Kristel R. van Eijk, Maarten Kooyman, Ross P. Byrne, Mark Doherty, Mark Heverin, Ahmad Al Khleifat, Alfredo Iacoangeli, Aleksey Shatunov, Nicola Ticozzi, Johnathan Cooper-Knock, Bradley N. Smith, Marta Gromicho, Siddharthan Chandran, Suvankar Pal, Karen E. Morrison, Pamela J. Shaw, John Hardy, Richard W. 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Conforti, Amelia Conte, Elisa Conti, Massimo Corbo, Stefania Cuccu, Eleonora Dalla Bella, Eustachio D’Errico, Giovanni DeMarco, Raffaele Dubbioso, Carlo Ferrarese, Pilar M. Ferraro, Massimo Filippi, Nicola Fini, Gianluca Floris, Giuseppe Fuda, Salvatore Gallone, Giulia Gianferrari, Fabio Giannini, Maurizio Grassano, Lucia Greco, Barbara Iazzolino, Alessandro Introna, Vincenzo La Bella, Serena Lattante, Giuseppe Lauria, Rocco Liguori, Giancarlo Logroscino, Francesco O. Logullo, Christian Lunetta, Paola Mandich, Jessica Mandrioli, Umberto Manera, Fiore Manganelli, Giuseppe Marangi, Kalliopi Marinou, Maria Giovanna Marrosu, Ilaria Martinelli, Sonia Messina, Cristina Moglia, Gabriele Mora, Lorena Mosca, Maria R. Murru, Paola Origone, Carla Passaniti, Cristina Petrelli, Antonio Petrucci, Susanna Pozzi, Maura Pugliatti, Angelo Quattrini, Claudia Ricci, Giulia Riolo, Nilo Riva, Massimo Russo, Mario Sabatelli, Paolina Salamone, Marco Salivetto, Fabrizio Salvi, Marialuisa Santarelli, Luca Sbaiz, Riccardo Sideri, Isabella Simone, Cecilia Simonini, Rossella Spataro, Raffaella Tanel, Gioacchino Tedeschi, Anna Ticca, Antonella Torriello, Stefania Tranquilli, Lucio Tremolizzo, Francesca Trojsi, Rosario Vasta, Veria Vacchiano, Giuseppe Vita, Paolo Volanti, Marcella Zollino, Elisabetta Zucchi, and JAMA Neurology, 2021
miR-129-5p: A key factor and therapeutic target in amyotrophic lateral sclerosis Alessia Loffreda, Monica Nizzardo, Alessandro Arosio, Marc-David Ruepp, Raffaele A. Calogero, Stefano Volinia, Marco Galasso, Caterina Bendotti, Carlo Ferrarese, Christian Lunetta, Mafalda Rizzuti, Antonella E. Ronchi, Oliver Mühlemann, Lucio Tremolizzo, Stefania Corti, Silvia M.L. Barabino Progress in Neurobiology, 2020
ALS Cognitive Behavioral Screen (ALS-CBS): normative values for the Italian population and clinical usability for the ALS-CBS Italian Study Group, Lucio Tremolizzo, Andrea Lizio, Gabriella Santangelo, Susanna Diamanti, Christian Lunetta, Francesca Gerardi, Sonia Messina, Stefania La Foresta, Nilo Riva, Yuri Falzone, Massimo Filippi, Susan C. Woolley, Valeria Ada Sansone, Mattia Siciliano, Carlo Ferrarese, Ildebrando Appollonio Neurological Sciences, 2020
HSC70 expression is reduced in lymphomonocytes of sporadic ALS patients and contributes to TDP-43 accumulation Alessandro Arosio, Riccardo Cristofani, Orietta Pansarasa, Valeria Crippa, Chiara Riva, Riccardo Sirtori, Virginia Rodriguez-Menendez, Nilo Riva, Francesca Gerardi, Christian Lunetta, Cristina Cereda, Angelo Poletti, Carlo Ferrarese, Lucio Tremolizzo, Gessica Sala Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2020
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis Sara Bandres‐Ciga, Alastair J. Noyce, Gibran Hemani, Aude Nicolas, Andrea Calvo, Gabriele Mora, The ITALSGEN Consortium, The International ALS Genomics Consortium, Pentti J. Tienari, David J. Stone, Mike A. Nalls, Andrew B. Singleton, Adriano Chiò, Bryan J. Traynor Annals of Neurology, 2019
Drug prescription and delirium in older inpatients: Results from the nationwide multicenter Italian Delirium Day 2015-2016 Gaetano Aloisi, Alessandra Marengoni, Alessandro Morandi, Alberto Zucchelli, Antonio Cherubini, Enrico Mossello, Mario Bo, Simona G. Di Santo, Andrea Mazzone, Marco Trabucchi, Stefano Cappa, Filippo L. Fimognari, Raffaele Antonelli Incalzi, Pietro Gareri, Francesco Perticone, Mauro Campanini, Marco Montorsi, Nicola Latronico, Antonella Zambon, Giuseppe Bellelli, on behalf of the Italian Study Group on Delirium (ISGoD) Journal of Clinical Psychiatry, 2019
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, Shankaracharya, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, Francesco O. Logullo, Isabella Simone, Giancarlo Logroscino, Fabrizio Salvi, Ilaria Bartolomei, Giuseppe Borghero, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Stefania Tranquilli, Margherita Capasso, Claudia Caponnetto, Gianluigi Mancardi, Paola Origone, Paola Mandich, Francesca L. Conforti, Sebastiano Cavallaro, Gabriele Mora, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Christian Lunetta, Giuseppe Lauria Pinter, Massimo Corbo, Nilo Riva, Paola Carrera, Paolo Volanti, Jessica Mandrioli, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, Alessandro Arosio, Carlo Ferrarese, Francesca Trojsi, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Vincenzo La Bella, Rossella Spataro, Tiziana Colletti, Mario Sabatelli, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Giuseppe Marangi, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Fabio Giannini, Stefania Battistini, Claudia Ricci, Michele Benigni, Tea B. Cau, Daniela Loi, Andrea Calvo, Cristina Moglia, Maura Brunetti, Marco Barberis, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Canosa, Antonio Ilardi, Umberto Manera, Maurizio Grassano, Raffaella Tanel, Fabrizio Pisano, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella L. Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O. Logullo, Sandra D’Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Matthew B. Harms, David B. Goldstein, Neil A. Shneider, Stephen Goutman, Zachary Simmons, Timothy M. Miller, Siddharthan Chandran, Suvankar Pal, Georgios Manousakis, Stanley H. Appel, Ericka Simpson, Leo Wang, Robert H. Baloh, Summer Gibson, Richard Bedlack, David Lacomis, Dhruv Sareen, Alexander Sherman, Lucie Bruijn, Michelle Penny, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Andrew S. Allen, Stanley Appel, Robert H. Baloh, Richard S. Bedlack, Braden E. Boone, Robert Brown, John P. Carulli, Alessandra Chesi, Wendy K. Chung, Elizabeth T. Cirulli, Gregory M. Cooper, Julien Couthouis, Aaron G. Day-Williams, Patrick A. Dion, Summer Gibson, Aaron D. Gitler, Jonathan D. Glass, David B. Goldstein, Yujun Han, Matthew B. Harms, Tim Harris, Sebastian D. Hayes, Angela L. Jones, Jonathan Keebler, Brian J. Krueger, Brittany N. Lasseigne, Shawn E. Levy, Yi-Fan Lu, Tom Maniatis, Diane McKenna-Yasek, Timothy M. Miller, Richard M. Myers, Slavé Petrovski, Stefan M. Pulst, Alya R. Raphael, John M. Ravits, Zhong Ren, Guy A. Rouleau, Peter C. Sapp, Neil A. Shneider, Ericka Simpson, Katherine B. Sims, John F. Staropoli, Lindsay L. Waite, Quanli Wang, Jack R. Wimbish, Winnie W. Xin, Aaron D. Gitler, Tim Harris, Richard M. Myers, Hemali Phatnani, Justin Kwan, Dhruv Sareen, James R. Broach, Zachary Simmons, Ximena Arcila-Londono, Edward B. Lee, Vivianna M. Van Deerlin, Neil A. Shneider, Ernest Fraenkel, Lyle W. Ostrow, Frank Baas, Noah Zaitlen, James D. Berry, Andrea Malaspina, Pietro Fratta, Gregory A. Cox, Leslie M. Thompson, Steve Finkbeiner, Efthimios Dardiotis, Timothy M. Miller, Siddharthan Chandran, Suvankar Pal, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Joshua Dubnau, Avindra Nath, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia Wyman, Alexander LeNail, Leandro Lima, Ernest Fraenkel, Jeffrey D. Rothstein, Clive N. Svendsen, Leslie M. Thompson, Jenny Van Eyk, Nicholas J. Maragakis, James D. Berry, Jonathan D. Glass, Timothy M. Miller, Stephen J. Kolb, Robert H. Baloh, Merit Cudkowicz, Emily Baxi, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Timothy M. Miller, Stephen J. Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J. Paul Taylor, Gang Wu, Evadnie Rampersaud, Joanne Wuu, Rosa Rademakers, Stephan Züchner, Rebecca Schule, Jacob McCauley, Sumaira Hussain, Anne Cooley, Marielle Wallace, Christine Clayman, Richard Barohn, Jeffrey Statland, John Ravits, Andrea Swenson, Carlayne Jackson, Jaya Trivedi, Shaida Khan, Jonathan Katz, Liberty Jenkins, Ted Burns, Kelly Gwathmey, James Caress, Corey McMillan, Lauren Elman, Erik Pioro, Jeannine Heckmann, Yuen So, David Walk, Samuel Maiser, Jinghui Zhang, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Vincenzo Silani, Nicola Ticozzi, Cinzia Gellera, Antonia Ratti, Franco Taroni, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Sandra D’Alfonso, Lucia Corrado, Fabiola De Marchi, Stefania Corti, Mauro Ceroni, Letizia Mazzini, Gabriele Siciliano, Massimiliano Filosto, Maurizio Inghilleri, Silvia Peverelli, Claudia Colombrita, Barbara Poletti, Luca Maderna, Roberto Del Bo, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Viviana Pensato, Barbara Castellotti, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, William Camu, Kevin Mouzat, Serge Lumbroso, Philippe Corcia, Vincent Meininger, Gérard Besson, Emmeline Lagrange, Pierre Clavelou, Nathalie Guy, Philippe Couratier, Patrick Vourch, Véronique Danel, Emilien Bernard, Gwendal Lemasson, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W. Orrell, Katie C. Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, José Luis Muñoz-Blanco, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Robert Bowser, Stefan M. Pulst, John M. Ravits, Daniel J.L. MacGowan, Janine Kirby, Erik P. Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L. Dunckley, Christopher B. Brady, Neil W. Kowall, Juan C. Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D. Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, Tim M. Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R. Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. Van Es, Markus Weber, Kevin B. Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E. Morrison, A. Nazli Basak, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Orla Hardiman, Kelly L. Williams, Jennifer A. Fifita, Garth A. Nicholson, Ian P. Blair, Guy A. Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ahmad Al Kheifat, Ammar Al-Chalabi, Peter Andersen, A. Nazli Basak, Ian P. Blair, Adriano Chio, Jonathan Cooper-Knock, Philippe Corcia, Philippe Couratier, Mamede de Carvalho, Annelot Dekker, Vivian Drory, Alberto Garcia Redondo, Marc Gotkine, Orla Hardiman, Winston Hide, Alfredo Iacoangeli, Jonathan Glass, Kevin Kenna, Matthew Kiernan, Maarten Kooyman, John Landers, Russell McLaughlin, Bas Middelkoop, Jonathan Mill, Miguel Mitne Neto, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Susana Pinto, Sara Pulit, Wim Robberecht, Aleksey Shatunov, Pamela Shaw, Chris Shaw, Vincenzo Silani, William Sproviero, Gijs Tazelaar, Nicola Ticozzi, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristel van Eijk, Michael van Es, Wouter van Rheenen, Joke van Vugt, Jan Veldink, Markus Weber, Kelly L. Williams, Mayana Zatz, Denis C. Bauer, Natalie A. Twine, Ekaterina Rogaeva, Lorne Zinman, Lyle W. Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer B. Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers Neuron, 2018
Trauma and amyotrophic lateral sclerosis: a european population-based case-control study from the EURALS consortium Elisabetta Pupillo, Marco Poloni, Elisa Bianchi, Giorgia Giussani, Giancarlo Logroscino, Stefano Zoccolella, Adriano Chiò, Andrea Calvo, Massimo Corbo, Christian Lunetta, Benoit Marin, Douglas Mitchell, Orla Hardiman, James Rooney, Zorica Stevic, Monica Bandettini di Poggio, Massimiliano Filosto, Maria Sofia Cotelli, Michele Perini, Nilo Riva, Lucio Tremolizzo, Eugenio Vitelli, Danira Damiani, Ettore Beghi, The EURALS Consortium† Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2018
Voluptuary Habits and Risk of Frontotemporal Dementia: A Case Control Retrospective Study Lucio Tremolizzo, Elisa Bianchi, Emanuela Susani, Elisabetta Pupillo, Paolo Messina, Angelo Aliprandi, Andrea Salmaggi, Maura Cosseddu, Andrea Pilotto, Barbara Borroni, Alessandro Padovani, Cristina Bonomini, Orazio Zanetti, Ildebrando Appollonio, Ettore Beghi, Carlo Ferrarese Journal of Alzheimer S Disease, 2017
Osteopathic manual treatment for amyotrophic lateral sclerosis: A feasibility pilot study Alberto Maggiani, Lucio Tremolizzo, Andrea Della Valentina, Laurent Mapelli, Silvia Sosio, Valeria Milano, Manuel Bianchi, Francesco Badi, Carolina Lavazza, Marco Grandini, Giovanni Corna, Paola Prometti, Christian Lunetta, Nilo Riva, Alessandra Ferri, Francesca Lanfranconi Open Neurology Journal, 2016
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion Adriano Chiò, Gabriele Mora, Mario Sabatelli, Claudia Caponnetto, Christian Lunetta, Bryan J. Traynor, Janel O. Johnson, Mike A. Nalls, Andrea Calvo, Cristina Moglia, Giuseppe Borghero, Francesca Trojsi, Vincenzo La Bella, Paolo Volanti, Isabella Simone, Fabrizio Salvi, Francesco O. Logullo, Nilo Riva, Paola Carrera, Fabio Giannini, Jessica Mandrioli, Raffaella Tanel, Margherita Capasso, Lucio Tremolizzo, Stefania Battistini, Maria Rita Murru, Paola Origone, Marcella Zollino, Silvana Penco, Letizia Mazzini, Sandra D'Alfonso, Gabriella Restagno, Maura Brunetti, Marco Barberis, Francesca L. Conforti Neurobiology of Aging, 2016
Non-self-sufficiency as a primary outcome measure in ALS trials Benoît Marin, Elisa Bianchi, Elisabetta Pupillo, Christian Lunetta, Lucio Tremolizzo, Giancarlo Logroscino, Adriano Chiò, Pierre Marie Preux, Ettore Beghi Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2016
Inner-ear decompression sickness: ‘Hubblebubble’ without brain trouble? Diving and Hyperbaric Medicine, 2015
TBK1 is associated with ALS and ALS-FTD in Sardinian patients Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Gianluca Floris, Antonino Cannas, Patrizia Occhineri, Tea B. Cau, Daniela Loi, Anna Ticca, Sebastiano Traccis, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Marco Barberis, Maura Brunetti, J. Raphael Gibbs, Alan E. Renton, Edoardo Errichiello, Magdalena Zoledziewska, Antonella Mulas, Yong Qian, Jun Din, Hannah A. Pliner, Bryan J. Traynor, Adriano Chiò, Francesco O. Logullo, Isabella Simone, Giancarlo Logroscino, Fabrizio Salvi, Ilaria Bartolomei, Margherita Capasso, Claudia Caponnetto, Paolo Mandich, Gianluigi Mancardi, Paola Origone, Francesca L. Conforti, Giuseppe Vita, Sonia Messina, Massimo Russo, Gabriele Mora, Kalliopi Marinou, Riccardo Sideri, Christian Lunetta, Silvana Penco, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Nilo Riva, Paola Carrera, Paolo Volanti, Lucio Tremolizzo, Carlo Ferrarese, Nicola Fini, Antonio Fasano, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Francesca Trojsi, Giovanni Piccirillo, Viviana Cristillo, Letizia Mazzini, Sandra D'Alfonso, Anna Bersano, Lucia Corrado, Alessandra Bagarotti, Vincenzo La Bella, Rossella Spataro, Tiziana Colletti, Mario Sabatelli, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Giuseppe Marangi, Marialuisa Santarelli, Antonio Petrucci, Fabio Giannini, Stefania Battistini, Claudia Ricci, Michele Benigni, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Ilardi, Davide Bertuzzo, Raffaella Tanel, Fabrizio Pisano, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Angelo Pirisi, Leslie D. Parish, Enzo Ortu Neurobiology of Aging, 2015
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Gianluca Floris, Antonino Cannas, Leslie D. Parish, Tea B. Cau, Daniela Loi, Anna Ticca, Sebastiano Traccis, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Marco Barberis, Maura Brunetti, Alan E. Renton, Mike A. Nalls, Bryan J. Traynor, Gabriella Restagno, Adriano Chiò Neurobiology of Aging, 2015
HFE p.H63D polymorphism does not influence ALS phenotype and survival Adriano Chiò, Gabriele Mora, Mario Sabatelli, Claudia Caponnetto, Christian Lunetta, Bryan J. Traynor, Janel O. Johnson, Mike A. Nalls, Andrea Calvo, Cristina Moglia, Giuseppe Borghero, Maria Rosaria Monsurrò, Vincenzo La Bella, Paolo Volanti, Isabella Simone, Fabrizio Salvi, Francesco O. Logullo, Riva Nilo, Fabio Giannini, Jessica Mandrioli, Raffaella Tanel, Maria Rita Murru, Paola Mandich, Marcella Zollino, Francesca L. Conforti, Silvana Penco, Maura Brunetti, Marco Barberis, Gabriella Restagno Neurobiology of Aging, 2015
The neurologist in dante's inferno Michele Augusto Riva, Iacopo Bellani, Lucio Tremolizzo, Lorenzo Lorusso, Carlo Ferrarese, Giancarlo Cesana European Neurology, 2015
Positive signs of functional weakness Lucio Tremolizzo, Emanuela Susani, Michele Augusto Riva, Giancarlo Cesana, Carlo Ferrarese, Ildebrando Appollonio Journal of the Neurological Sciences, 2014
Physical activity and amyotrophic lateral sclerosis: A European population-based case-control study Elisabetta Pupillo, Paolo Messina, Giorgia Giussani, Giancarlo Logroscino, Stefano Zoccolella, Adriano Chiò, Andrea Calvo, Massimo Corbo, Christian Lunetta, Benoit Marin, Douglas Mitchell, Orla Hardiman, James Rooney, Zorica Stevic, Monica Bandettini di Poggio, Massimiliano Filosto, Maria Sofia Cotelli, Michele Perini, Nilo Riva, Lucio Tremolizzo, Eugenio Vitelli, Danira Damiani, Ettore Beghi, the EURALS Consortium Annals of Neurology, 2014
Brain targets: Can you believe your own eyes? Giovanni Stefanoni, Marco Tironi, Lucio Tremolizzo, Maria Letizia Fusco, Jacopo Di Francesco, Mirko Patassini, Carlo Ferrarese, Ildebrando Appollonio Neuroradiology Journal, 2014
Whole-blood global DNA methylation is increased in amyotrophic lateral sclerosis independently of age of onset Lucio Tremolizzo, Paolo Messina, Elisa Conti, Gessica Sala, Matteo Cecchi, Luisa Airoldi, Roberta Pastorelli, Elisabetta Pupillo, Monica Bandettini Di Poggio, Massimiliano Filosto, Christian Lunetta, Cristina Agliardi, Franca Guerini, Jessica Mandrioli, Andrea Calvo, Ettore Beghi, Carlo Ferrarese, EURALS Consortium, M.S. Cotelli, M. Corbo, E. Maestri, E. Georgoulopoulou, L. Marzorati, E. Susani, A. Arosio, A. Chiò, G. Fuda, F. Pisa Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2014
Randomized double-blind placebo-controlled trial of acetyl-L-carnitine for ALS Ettore Beghi, Elisabetta Pupillo, Virginio Bonito, Paolo Buzzi, Claudia Caponnetto, Adriano Chiò, Massimo Corbo, Fabio Giannini, Maurizio Inghilleri, Vincenzo La Bella, Giancarlo Logroscino, Lorenzo Lorusso, Christian Lunetta, Letizia Mazzini, Paolo Messina, Gabriele Mora, Michele Perini, Maria Lidia Quadrelli, Vincenzo Silani, Isabella L. Simone, Lucio Tremolizzo, The Italian ALS Study Group Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2013
Mood disorder with psychotic symptoms and overlooked skin lesions: The strange case of Mrs. O Rivista Di Psichiatria, 2012
Back to the ring: Knocking-out headache Marco Tironi, Lucio Tremolizzo, Giovanni Stefanoni, Monica Airoldi, Eleonora Motta, Mirko Patassini, Francesco Canonico, Carlo Ferrarese, Ildebrando Appollonio Neurological Sciences, 2012
A case of spinal epidural haematoma during breath-hold diving Diving and Hyperbaric Medicine, 2012
Cerebellar hematoma in a carrier of the A3243G MELAS mutation E. Saracchi, L. Tremolizzo, J. C. DiFrancesco, L. Brighina, G. Costantino, B. Frigeni, M. Brioschi, M. L. Piatti, L. Fumagalli, L. Marzorati, N. A. Curtò, C. Ferrarese Neurological Sciences, 2011
A GABAergic cortical deficit dominates schizophrenia pathophysiology Critical Reviews in Neurobiology, 2004
MIDAS questionnaire in the emergency setting A. Aliprandi, R. Frigerio, P. Santoro, M. Frigo, S. Iurlaro, M. Vaccaro, L. Tremolizzo, E. Beghi, C. Ferrarese, E. Agostoni Neurological Sciences, 2004
