Sex-Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect? Maurizio Grassano, Francesca Palumbo, Gabriele Mora, Salvatore Gallone, Giovanni De Marco, Ilaria Merulla, Claudia Paolantonio, Alessandra Maccabeo, Antonio Canosa, Umberto Manera, Rosario Vasta, Barbara Iazzolino, Marcella Testa, Giuseppe Fuda, Paolina Salamone, Giulia Marchese, Federico Casale, Cristina Moglia, Andrea Calvo, Giuseppe Borghero, Adriano Chiò Annals of Neurology, 2026 Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls). We performed a sex‐stratified burden analysis of rare variants in ALS‐associated genes and compared the proportions of male and female ALS patients carrying pathogenic or rare damaging variants. Key findings were replicated in the AnswerALS cohort ( n = 723). Gene‐specific sex ratios and familial history for C9ORF72 , SOD1 , and TARDBP were examined in an expanded dataset of 2,301 Italian ALS patients. Results Sex‐stratified burden testing revealed that rare variants in ALS genes were enriched in female cases versus controls (odds ratio [OR] 5.47, 95% confidence interval [CI] 1.60–34.29) but not in male cases. Female ALS patients more frequently carried rare damaging variants compared to males (23.2% vs 18.3%; OR 1.38, 95% CI 1.05–1.81), a finding that was replicated in the AnswerALS cohort (18.9% vs 12.4%; OR 1.58, 95% CI 1.10–2.26). Gene‐level analyses of TARDBP carriers revealed a male predominance (2.1:1), yet a higher rate of familial history among females (40.4% vs 24.5%; OR 2.13, 95% CI 1.03–4.39). Interpretation Females with ALS exhibited a higher overall burden of rare damaging variants, suggesting sex‐related differences in genetic liability. Gene‐level analyses indicate that the influence of sex varies across ALS genes, particularly TARDBP . These findings help explain epidemiological patterns and have implications for the identification of sex‐linked protective mechanisms. ANN NEUROL 2026
MYC-driven gliosis impairs neuron-glia communication in amyotrophic lateral sclerosis Paolo V Fioretti, Anna Barbieri, Alice Migazzi, Davide Bressan, Maurizio Grassano, Luisa Donini, Michela Roccuzzo, Maria Claudia Torrieri, Francesca Conci, Elisa Ferracci, Sabrina Invernizzi, Katie M Bowden, Francesca Bacchetti, Sara Cappelli, Daniele Peroni, Romina Belli, Michael Pancher, Vera Mugoni, Giorgina Scarduelli, Matteo Gianesello, Laura Pasetto, Giulia Canarutto, Serena Carra, Alessia Soldano, Alessandra Bisio, Sergio Robbiati, Chiara Valentini, Caterina Nardella, Silvano Piazza, Vito G D’Agostino, Alessandro Quattrone, Sama Sleiman, Jonathan R Whitfield, Laura Soucek, Beatrice Vignoli, Gabriella Viero, Luca Tiberi, Alessio Zippo, Francesca Demichelis, Valentina Bonetto, Marco Milanese, Emanuele Buratti, Federico Verde, Nicola Ticozzi, Andrea Calvo, Antonia Ratti, Pamela J Shaw, Marco Terenzio, Fulvio Chiacchiera, Maria Pennuto, Manuela Basso Brain, 2026 Chronic activation of glial cells leads to the dysfunction and degeneration of motor and cortical neurons in amyotrophic lateral sclerosis and frontotemporal dementia with an unknown mechanism. To shed light on the molecular pathogenetic processes underlying the exordium and contribution of gliosis to disease onset and progression, we used cells, mice and patient-derived cells modelling TDP-43, SOD1 and C9ORF72-linked and sporadic ALS. Our data reveal a sequential disease progression, starting with enhanced glial reactivity and proliferation, and transitioning into inflammation with upregulation of pro-inflammatory genes. Using mouse genetics, we show that expression of mutant TDP-43 in astrocytes is necessary to cause gliosis and behavioural abnormalities. Mechanistically, we show that glial MYC gain-of-function drives neurodegeneration by promoting the release of astrocyte-derived extracellular vesicles that nonetheless fail to provide trophic support to surrounding neurons. Our research reveals a novel functional role for MYC in glia-to-neuron miscommunication in ALS.
The Epidemiology of Primary Lateral Sclerosis: Results from a Population-Based Cohort Rosario Vasta, Enrico Matteoni, Giorgio Pellegrino, Antonio Canosa, Umberto Manera, Francesca Palumbo, Maurizio Grassano, Sara Cabras, Alessandra Maccabeo, Fabrizio D'Ovidio, Gabriele Mora, Salvatore Gallone, Elisa D'Angelo, Letizia Mazzini, Fabiola De Marchi, Cristina Moglia, Adriano Chiò, Andrea Calvo Annals of Neurology, 2026 Objective In this population‐based study, we described the epidemiology of primary lateral sclerosis (PLS) in northern Italy and compared the clinical characteristics of patients with PLS to those with predominant upper motor neuron (PUMN) involvement and classic amyotrophic lateral sclerosis (ALS). Methods Patients from the PARALS registry diagnosed with probable or definite PLS between 2007 and 2021 were included. Crude annual incidence rates were calculated, along with age‐ and sex‐specific rates. A survival analysis was performed to identify prognostic factors at diagnosis. Covariates included sex, age at onset, site of onset, diagnostic delay, forced vital capacity (FVC), change in ALS Functional Rating Scale (ΔFRS), and change in body mass index (ΔBMI). Results A total of 57 PLS patients (2.7%) were included, with a crude incidence rate of 0.084 per 100,000 person‐years. Compared to PUMN and classic ALS, PLS patients were younger (median onset age 63.5 years, interquartile range [IQR] 54.9–70.4) and predominantly female (male‐to‐female ratio 0.58). Bulbar onset occurred in 11 cases (19.3%), all of whom later developed spinal symptoms. At censoring, 38 patients (66.7%) were still alive (median survival 8.3 years, IQR 5.7–12.3), corresponding to a point prevalence of 0.89 per 100,000. Survival was significantly associated with age at onset (hazard ratio [HR] 1.17, 95% confidence interval [CI]: 1.05–1.33, p = 0.001), male sex (HR 4.41, 95% CI: 1.24–15.6, p = 0.02), and FVC at diagnosis (HR 0.95, 95% CI: 0.93–0.98, p = 0.006). Interpretation PLS was confirmed to be rarer than other ALS phenotypes. Patients had a higher age at onset than previously reported and a female predominance. Sex, age at onset, and respiratory function were key prognostic factors. ANN NEUROL 2025
Amyotrophic Lateral Sclerosis Prevalence Projection in 2040: A Less Rare Disease Rosario Vasta, Stefano Callegaro, Antonio Canosa, Umberto Manera, Maurizio Grassano, Francesca Palumbo, Sara Cabras, Enrico Matteoni, Francesca Di Pede, Filippo De Mattei, Salvatore Tafaro, Neil M. Thakur, Ryan Grosenick, Fabiola De Marchi, Letizia Mazzini, Cristina Moglia, Andrea Calvo, Kuldip D. Dave, Adriano Chiò Annals of Clinical and Translational Neurology, 2026 ObjectiveTo project ALS prevalence across multiple countries through 2040, accounting for both population aging and increased survival.MethodsData from the Piemonte and Valle d'Aosta ALS register (PARALS) was used to estimate the trends in incidence and prevalence from 2005 to 2019. Survival trends over this period were also assessed. The observed annual increase was then projected into future years up to 2040. Concurrently, the incidence for each future year was calculated using population projections. Finally, the prevalence rate for each year was estimated as the product of the projected incidence and the projected survival. We also estimated survival for fifteen countries by dividing prevalence by incidence, based on available data, and applied the same increase observed in PARALS to project prevalence in these countries up to 2040.ResultsUsing data from 3294 patients, we determined that ALS survival increased by 0.06 years annually from 2005 to 2019 in Piemonte and Valle d'Aosta. Considering changes in incidence due to population aging, the prevalence is projected to reach 15.72 per 100,000 population by 2040 in this area, while rising by a median of 24.9% across multiple countries worldwide. If a new drug could provide a 6‐month increase in survival starting in 2025, disease prevalence would rise by 37.8% by 2040. We provided a web interface so users can model different data and assumptions.InterpretationALS prevalence is projected to increase significantly over the next decades. This underscores the need for careful planning and allocation of public health resources.
Genetic analysis of neurodegenerative diseases Maurizio Grassano, Alice B. Schindler, Bryan J. Traynor, Sonja W. Scholz Journal of Clinical Investigation, 2026 Recent advances in genomic technologies have greatly enhanced our understanding of neurodegeneration. Techniques like whole-genome sequencing, long-read sequencing, and large-scale population studies have expanded the range of identified genetic risk factors, uncovering new disease mechanisms and biological pathways that could serve as therapeutic targets. However, translating these genetic insights into clinical practice remains difficult because of challenges in interpreting variants and the limited functional validation of new discoveries. This Review highlights the key genomic technologies advancing diagnosis and research in neurodegeneration. We focus on improvements in variant classification, detection of structural variants and repeat expansions, and combining transcriptomic, proteomic, and functional data to better determine variant pathogenicity. The ongoing integration of genomics, molecular neurobiology, and data science offers great potential for more accurate, biologically informed diagnosis and treatment of neurodegenerative disorders.
Role of 2-[18F]FDG-PET as a biomarker of upper motor neuron involvement in amyotrophic lateral sclerosis Sara Cabras, Umberto Manera, Francesca Di Pede, Grazia Zocco, Rosario Vasta, Andrea Novara, Emilio Minerva, Enrico Matteoni, Filippo De Mattei, Giorgio Pellegrino, Maurizio Grassano, Barbara Iazzolino, Francesca Palumbo, Stefano Callegaro, Giulia Polverari, Silvia Daniela Morbelli, Matteo Pardini, Agostino Chiaravalloti, Orazio Schillaci, Klaus Leonard Leenders, Rosalie Vered Kogan, Cristina Moglia, Andrea Calvo, Adriano Chiò, Marco Pagani, Antonio Canosa Journal of Neurology, 2025 Introduction Amyotrophic Lateral Sclerosis (ALS) affects upper (UMN) and lower (LMN) motor neurons. ALS diagnosis is challenging, especially in predominant LMN phenotypes. Electromyography can disclose LMN damage, while UMN involvement is detectable by clinical examination, with possible support of magnetic resonance imaging (MRI) and transcranial magnetic stimulation. Our aim was to investigate the role of 2-[ 18 F]FDG-PET as an UMN biomarker in ALS. Methods In our cross-sectional study, we created an UMN burden score. Performing a multiple regression analysis in SPM12, we evaluated the relationship between UMNBS and brain metabolism. We split ALS cohort based on the UMN burden score median value (group A—under median, group B—above median). We ran a full factorial analysis including group A and B and healthy controls, followed by group comparisons. Results We included 118 ALS patients (group A and B, N = 59), with a median UMN burden score of 9.50 and a left lateralization of UMN signs. We found a negative correlation between motor cortex metabolism and UMN burden score. Comparing each ALS group with healthy controls, we found relative hypometabolism in the left frontal lobe and relative bilateral, right-prevalent hypermetabolism of cerebellum and corticospinal tracts. The relative hypermetabolism in corticospinal tracts was more evident in the group with low UMN signs. Conclusions Motor cortex metabolism reflects UMN burden. Corticospinal tracts’ metabolic changes could provide information about UMN involvement even in patients with predominant LMN phenotype, suggesting a possible role of brain 2-[ 18 F]FDG-PET as an UMN biomarker in ALS patients.
Cognitive Reserve in Amyotrophic Lateral Sclerosis: A 2-[18F]FDG-PET Study on Sex-Related Differences Antonio Canosa, Stefano Callegaro, Umberto Manera, Rosario Vasta, Sara Cabras, Francesca Di Pede, Filippo De Mattei, Francesca Palumbo, Barbara Iazzolino, Anastasia Dei Giudici, Enrico Matteoni, Grazia Zocco, Emilio Minerva, Alessandra Maccabeo, Giorgio Pellegrino, Daniela Pascariu, Maurizio Grassano, Francesco Ciresi, Marcella Testa, Giulia Polverari, Paolina Salamone, Giovanni De Marco, Claudia Paolantonio, Giulia Marchese, Cristina Moglia, Andrea Calvo, Adriano Chiò, Marco Pagani European Journal of Neurology, 2025 Background Cognitive reserve (CR) applies to ALS‐related cognitive impairment and education is a CR proxy. The influence of sex on CR in ALS is unclear. Methods We compared brain 2‐[ 18 F]FDG‐PET metabolism of male (m‐ALS, n = 95) and female (f‐ALS, n = 95) patients, matched for age, education, onset, and King's stage, with no significant difference in ECAS scores. In each group, clusters showing a negative/positive correlation with education were used as seed regions in an interregional correlation analysis (IRCA) to evaluate connectivity. We identified the seed regions including age, onset, King's stage and ECAS as covariates. Results M‐ALS showed a relative hypometabolism compared to f‐ALS in bilateral frontotemporal regions. In f‐ALS brain metabolism positively correlated with education in the left fusiform gyrus, cerebellum and pons. The IRCA showed a positive correlation of the seed region with the cerebellum, pons, right fusiform gyrus and cuneus, and the left precuneus, and a negative correlation with the frontal lobes and caudate nuclei. In m‐ALS brain metabolism negatively correlated with education in the left frontotemporal and insular cortices. The IRCA showed a positive correlation of the seed region with bilateral frontotemporal and cingulate cortices, and the right parietal cortex, and a negative correlation with bilateral cerebellum and motor cortex, and the left lingual gyrus. Conclusions M‐ALS showed relative frontotemporal hypometabolism compared to f‐ALS, suggesting a male prevalence of CR. In m‐ALS the negative correlation of education with left frontotemporal and insular metabolism supports the CR hypothesis. In f‐ALS the positive correlation of cerebellar metabolism with education suggests compensatory mechanisms, also supported by the IRCA.
A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosis Ruth Chia, Ruin Moaddel, Justin Y. Kwan, Memoona Rasheed, Paola Ruffo, Natalie Landeck, Paolo Reho, Rosario Vasta, Andrea Calvo, Cristina Moglia, Antonio Canosa, Umberto Manera, Allison Snyder, Sara Saez-Atienzar, Maurizio Grassano, Maura Brunetti, Federico Casale, Anindita Ray, Kumar Arvind, Betul Comertpay, Min Zhu, J. Raphael Gibbs, , Camille Alba, Ted M. Dawson, Liana S. Rosenthal, Anna J. Hall, Alexander Y. Pantelyat, Derek P. Narendra, Debra J. Ehrlich, Keenan A. Walker, Peter Kosa, Bibiana Bielekova, Josephine M. Egan, Julián Candia, Toshiko Tanaka, Luigi Ferrucci, Clifton L. Dalgard, Sonja W. Scholz, Adriano Chiò, Bryan J. Traynor Nature Medicine, 2025 Identifying a reliable biomarker for amyotrophic lateral sclerosis (ALS) is crucial for clinical practice. Here, in this cross-sectional study, we used the Olink Explore 3072 platform to investigate plasma proteomics as a biomarker tool for this neurodegenerative condition. Thirty-three proteins were differentially abundant in the plasma of patients with ALS (n = 183) versus controls (n = 309). We replicated our findings in an independent cohort (n = 48 patients with ALS and n = 75 controls). We then applied machine learning to create a model that diagnosed ALS with high accuracy (area under the curve, 98.3%). By analyzing plasma samples from individuals before ALS symptoms emerged, we estimated the age of clinical onset and showed that the disease process—impacting skeletal muscle, nerves and energy metabolism—occurs years before symptoms appear. Our research suggests that plasma proteins can be a biomarker for this fatal disease and offers molecular insights into its prodromal phase.
Genetic Variants Associated With Neurodegenerative Disorders in Patients With Amyotrophic Lateral Sclerosis and Phenotypic Variability Maurizio Grassano, Emanuele Koumantakis, Francesca F. Palumbo, Maura Brunetti, Giovanni De Marco, Ilaria Merulla, Claudia Paolantonio, Barbara Iazzolino, Marcella Testa, Umberto Manera, Antonio Canosa, Rosario Vasta, Giuseppe Fuda, Paolina Salamone, Giulia Marchese, Federico Casale, Salvatore Gallone, Gabriele Mora, Cristina Moglia, Andrea Calvo, Adriano Chiò Neurology, 2025 BACKGROUND AND OBJECTIVES: The genetic contribution to clinical heterogeneity in amyotrophic lateral sclerosis (ALS) remains poorly understood, particularly regarding the role of genes associated with other neurodegenerative disorders. This study aimed to determine whether rare variants in neurodegeneration-associated genes influence ALS risk and clinical phenotype. METHODS: This case-control study included patients with ALS without pathogenic variants in major ALS genes from the population-based Piemonte and Valle d'Aosta Register for ALS and matched controls. High-impact rare variants (minor allele frequency <0.01% or novel) in 151 genes associated with neurodegenerative disorders were identified through whole-genome sequencing. Main outcomes included ALS risk, motor phenotype, cognitive status, and survival. Findings were replicated in the Project MinE dataset (6,596 ALS cases, 2,454 controls). RESULTS: = 0.003). DISCUSSION: Rare variants in genes associated with other neurodegenerative disorders influence both ALS susceptibility and clinical features, highlighting genetic pleiotropy across neurodegenerative diseases. Our findings support a model in which ALS arises from a complex and heterogeneous genetic landscape involving multiple variants, often shared with other neurodegenerative conditions, that shape disease expression. Although these findings suggest potential future expansion of genetic screening beyond classical ALS genes, such variants should be interpreted cautiously in clinical practice pending further functional validation.
Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes Arianna Manini, Alberto Brusati, Maurizio Grassano, Giulia Scacciatella, Silvia Peverelli, Jacopo Spagliardi, Viviana Pensato, Alberto Doretti, Rosario Vasta, Umberto Manera, Antonio Canosa, Maura Brunetti, Davide Gentilini, Stefano Messina, Federico Verde, Cristina Moglia, Claudia Morelli, Eleonora Dalla Bella, Pamela J. Keagle, John E. Landers, Cinzia Gellera, Giuseppe Lauria Pinter, Adriano Chiò, Antonia Ratti, Andrea Calvo, Vincenzo Silani, Nicola Ticozzi Journal of Neurology, 2025
Another brick in our knowledge of ALS causes: a population-based study of residential clustering Stefano Callegaro, Umberto Manera, Antonio Canosa, Maurizio Grassano, Francesca Palumbo, Sara Cabras, Enrico Matteoni, Francesca Di Pede, Filippo De Mattei, Fabiola De Marchi, Letizia Mazzini, Cristina Moglia, Andrea Calvo, Adriano Chiò, Rosario Vasta Journal of Neurology Neurosurgery and Psychiatry, 2025
Phosphatemia is an Independent Prognostic Factor in Amyotrophic Lateral Sclerosis Rosario Vasta, Emanuele Koumantakis, Antonio Canosa, Umberto Manera, Maurizio Grassano, Francesca Palumbo, Sara Cabras, Enrico Matteoni, Francesca Di Pede, Filippo De Mattei, Filippo Vergnano, Jessica Mandrioli, Cecilia Simonini, Ilaria Martinelli, Fabiola De Marchi, Letizia Mazzini, Cristina Moglia, Andrea Calvo, Adriano Chiò Annals of Neurology, 2025
Exploring the phenotypic fingerprints of ANXA11 variants in ALS: a population-based study in an European cohort Francesca Palumbo, Barbara Iazzolino, Cristina Moglia, Umberto Manera, Enrico Matteoni, Sara Cabras, Maura Brunetti, Salvatore Gallone, Stefano Callegaro, Rosario Vasta, Gabriele Mora, Fabiola De Marchi, Lucia Corrado, Sandra D’Alfonso, Letizia Mazzini, Antonio Canosa, Maurizio Grassano, Andrea Calvo, Adriano Chiò Journal of Neurology, 2025
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi Annals of Clinical and Translational Neurology, 2025
Brain Metabolic Features of FUS-ALS: A 2-[18F]FDG-PET Study Antonio Canosa, Umberto Manera, Rosario Vasta, Grazia Zocco, Francesca Di Pede, Sara Cabras, Filippo De Mattei, Francesca Palumbo, Barbara Iazzolino, Emilio Minerva, Luca Sbaiz, Maura Brunetti, Salvatore Gallone, Maurizio Grassano, Enrico Matteoni, Giulia Polverari, Giuseppe Fuda, Federico Casale, Paolina Salamone, Giovanni De Marco, Giulia Marchese, Cristina Moglia, Andrea Calvo, Marco Pagani, Adriano Chiò Annals of Neurology, 2025
Croplands proximity is associated with amyotrophic lateral sclerosis incidence and age at onset Umberto Manera, Stefano Callegaro, Antonio Canosa, Francesca Palumbo, Maurizio Grassano, Alessandro Bombaci, Arianna Dagliati, Pietro Bosoni, Margherita Daviddi, Federico Casale, Sara Cabras, Enrico Matteoni, Fabiola De Marchi, Letizia Mazzini, Cristina Moglia, Rosario Vasta, Andrea Calvo, Adriano Chiò European Journal of Neurology, 2025
Sex-related differences in amyotrophic lateral sclerosis: A 2-[18F]FDG-PET study Antonio Canosa, Alessio Martino, Umberto Manera, Alessandro Giuliani, Rosario Vasta, Francesca Palumbo, Maurizio Grassano, Silvia Daniela Morbelli, Matteo Pardini, Agostino Chiaravalloti, Orazio Schillaci, Klaus Leonard Leenders, Rosalie Vered Kogan, Giulia Polverari, Grazia Zocco, Francesca Di Pede, Filippo De Mattei, Sara Cabras, Enrico Matteoni, Cristina Moglia, Andrea Calvo, Adriano Chiò, Marco Pagani European Journal of Neurology, 2025
Brain metabolic connectivity in ALS due to C9ORF72 hexanucleotide expansion: a [18F]FDG-PET study Antonio Canosa, Stefano Callegaro, Umberto Manera, Rosario Vasta, Sara Cabras, Francesca Di Pede, Filippo De Mattei, Francesca Palumbo, Barbara Iazzolino, Anastasia Dei Giudici, Enrico Matteoni, Grazia Zocco, Emilio Minerva, Alessandra Maccabeo, Giorgio Pellegrino, Daniela Pascariu, Maurizio Grassano, Pietro Piombino, Marcella Testa, Giulia Polverari, Giuseppe Fuda, Ilaria Merulla, Federico Casale, Salvatore Gallone, Cristina Moglia, Andrea Calvo, Marco Pagani, Adriano Chiò European Journal of Nuclear Medicine and Molecular Imaging, 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
Reply to “Comprehensive Analysis of Sex Differences in Amyotrophic Lateral Sclerosis Prognosis and Disease Progression” Maurizio Grassano, Cristina Moglia, Francesca Palumbo, Emanuele Koumantakis, Paolo Cugnasco, Stefano Callegaro, Antonio Canosa, Umberto Manera, Rosario Vasta, Filippo De Mattei, Enrico Matteoni, Giuseppe Fuda, Paolina Salamone, Giulia Marchese, Federico Casale, Fabiola De Marchi, Letizia Mazzini, Gabriele Mora, Andrea Calvo, Adriano Chiò Annals of Neurology, 2024
Sex Differences in Amyotrophic Lateral Sclerosis Survival and Progression: A Multidimensional Analysis Maurizio Grassano, Cristina Moglia, Francesca Palumbo, Emanuele Koumantakis, Paolo Cugnasco, Stefano Callegaro, Antonio Canosa, Umberto Manera, Rosario Vasta, Filippo De Mattei, Enrico Matteoni, Giuseppe Fuda, Paolina Salamone, Giulia Marchese, Federico Casale, Fabiola De Marchi, Letizia Mazzini, Gabriele Mora, Andrea Calvo, Adriano Chiò Annals of Neurology, 2024
Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes (Nature Communications, (2023), 14, 1, (342), 10.1038/s41467-022-35724-1) Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. Veldink, Project Mine Als Sequencing Consortium, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chio, Tobias Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer-Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis Nature Communications, 2023
Integrative genetic analysis illuminates ALS heritability and identifies risk genes Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. Veldink, Project Mine Als Sequencing Consortium, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chio, Tobias Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer-Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis Nature Communications, 2023
Withdrawal of mechanical ventilation in amyotrophic lateral sclerosis patients: a multicenter Italian survey Cristina Moglia, Francesca Palumbo, Simone Veronese, Stefania Angelocola, Paolo Barone, Ilaria Bartolomei, Enrica Bersano, Alessandro Bombaci, Giuseppe Borghero, Sara Cabras, Chiara Cambieri, Elena Canali, Antonio Canosa, Margherita Capasso, Claudia Caponnetto, Patrizio Cardinali, Mario Casmiro, Marco Ceccanti, Adriano Chiò, Monica Consonni, Eleonora Dalla Bella, Fabiola De Marchi, Filippo De Mattei, Eustachio D’Errico, Francesca Di Pede, Luca Diamanti, Raffaele Dubbioso, Massimo Filippi, Massimiliano Filosto, Nicola Fini, Giulia Gianferrari, Maurizio Grassano, Maurizio Inghilleri, Vincenzo La Bella, Giuseppe Lauria Pinter, Laura Libonati, Francesco Logullo, Jessica Mandrioli, Umberto Manera, Ilaria Martinelli, Gioacchino Martusciello, Sabrina Matà, Enrico Matteoni, Letizia Mazzini, Doriana Medici, Stefania Miniello, Federica Moret, Cecilia Nozzoli, Giovanni Piccirillo, Giovanna Pilurzi, Nilo Riva, Silvia Romito, Massimo Russo, Fabrizio Salvi, Elisabetta Sette, Vincenzo Silani, Isabella Laura Simone, Cecilia Simonini, Rossella Spataro, Giovanna Squintani, Salvatore Stano, Raffaella Tanel, Gioacchino Tedeschi, Nicola Ticozzi, Antonella Toriello, Lucio Tremolizzo, Francesca Trojsi, Veria Vacchiano, Rosario Vasta, Paolo Volanti, Lucia Zinno, Elisabetta Zucchi, Andrea Calvo, and Neurological Sciences, 2023
The role of peripheral immunity in ALS: a population-based study Maurizio Grassano, Umberto Manera, Fabiola De Marchi, Paolo Cugnasco, Enrico Matteoni, Margherita Daviddi, Luca Solero, Alessandro Bombaci, Francesca Palumbo, Rosario Vasta, Antonio Canosa, Paolina Salamone, Giuseppe Fuda, Federico Casale, Letizia Mazzini, Andrea Calvo, Cristina Moglia, Adriano Chiò Annals of Clinical and Translational Neurology, 2023
Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis Adriano Chiò, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Rosario Vasta, Francesca Palumbo, Salvatore Gallone, Maura Brunetti, Marco Barberis, Fabiola De Marchi, Clifton Dalgard, Ruth Chia, Gabriele Mora, Barbara Iazzolino, Laura Peotta, Bryan J. Traynor, Lucia Corrado, Sandra D'Alfonso, Letizia Mazzini, Andrea Calvo Neurology, 2023
Brain metabolic differences between pure bulbar and pure spinal ALS: a 2-[18F]FDG-PET study Antonio Canosa, Alessio Martino, Alessandro Giuliani, Cristina Moglia, Rosario Vasta, Maurizio Grassano, Francesca Palumbo, Sara Cabras, Francesca Di Pede, Filippo De Mattei, Enrico Matteoni, Giulia Polverari, Umberto Manera, Andrea Calvo, Marco Pagani, Adriano Chiò Journal of Neurology, 2023
Factors predicting disease progression in C9ORF72 ALS patients Jessica Mandrioli, Elisabetta Zucchi, Ilaria Martinelli, Laura Van der Most, Giulia Gianferrari, Cristina Moglia, Umberto Manera, Luca Solero, Rosario Vasta, Antonio Canosa, Maurizio Grassano, Maura Brunetti, Letizia Mazzini, Fabiola De Marchi, Cecilia Simonini, Nicola Fini, Rossella Tupler, Marco Vinceti, Adriano Chiò, Andrea Calvo Journal of Neurology, 2023
Serum chloride as a respiratory failure marker in amyotrophic lateral sclerosis Umberto Manera, Maurizio Grassano, Enrico Matteoni, Alessandro Bombaci, Rosario Vasta, Francesca Palumbo, Maria Claudia Torrieri, Paolo Cugnasco, Cristina Moglia, Antonio Canosa, Adriano Chiò, Andrea Calvo Frontiers in Aging Neuroscience, 2023
Phenotype analysis of fused in sarcoma mutations in amyotrophic lateral sclerosis Maurizio Grassano, Giorgia Brodini, Giovanni De Marco, Federico Casale, Giuseppe Fuda, Paolina Salamone, Maura Brunetti, Luca Sbaiz, Salvatore Gallone, Paolo Cugnasco, Alessandro Bombaci, Rosario Vasta, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Bryan J. Traynor, Adriano Chio Neurology Genetics, 2022
Respiratory support in a population-based ALS cohort: Demographic, timing and survival determinants Adriano Chio, Cristina Moglia, Antonio Canosa, Umberto Manera, Rosario Vasta, Maurizio Grassano, Francesca Palumbo, Maria Claudia Torrieri, Luca Solero, Alessio Mattei, Fulvia Ribolla, Nicola Launaro, Fabiola De Marchi, Letizia Mazzini, Gabriele Mora, Andrea Calvo Journal of Neurology Neurosurgery and Psychiatry, 2022
Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats Adriano Chio, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Rosario Vasta, Francesca Palumbo, Salvatore Gallone, Maura Brunetti, Marco Barberis, Fabiola De Marchi, Clifton Dalgard, Ruth Chia, Gabriele Mora, Barbara Iazzolino, Laura Peotta, Bryan Traynor, Lucia Corrado, Sandra D'Alfonso, Letizia Mazzini, Andrea Calvo Journal of Neurology Neurosurgery and Psychiatry, 2022
Systematic evaluation of genetic mutations in ALS: a population-based study Maurizio Grassano, Andrea Calvo, Cristina Moglia, Luca Sbaiz, Maura Brunetti, Marco Barberis, Federico Casale, Umberto Manera, Rosario Vasta, Antonio Canosa, Sandra D’Alfonso, Lucia Corrado, Letizia Mazzini, Clifton Dalgard, Ramita Karra, Ruth Chia, Bryan Traynor, Adriano Chiò Journal of Neurology Neurosurgery and Psychiatry, 2022
Predicting functional impairment trajectories in amyotrophic lateral sclerosis: a probabilistic, multifactorial model of disease progression Erica Tavazzi, Sebastian Daberdaku, Alessandro Zandonà, Rosario Vasta, Beatrice Nefussy, Christian Lunetta, Gabriele Mora, Jessica Mandrioli, Enrico Grisan, Claudia Tarlarini, Andrea Calvo, Cristina Moglia, Vivian Drory, Marc Gotkine, Adriano Chiò, Barbara Di Camillo, For the Piemonte, Valle d’Aosta Register for ALS (PARALS), for the Emilia Romagna Registry for ALS (ERRALS), A. Chiò, Rita Levi Montalcini, A. Calvo, C. Moglia, A. Canosa, U. Manera, R. Vasta, F. Palumbo, A. Bombaci, M. Grassano, M. Brunetti, F. Casale, G. Fuda, P. Salomone, B. Iazzolino, L. Peotta, P. Cugnasco, G. De Marco, M. C. Torrieri, S. Gallone, M. Barberis, L. Sbaiz, S. Gentile, A. Mauro, L. Mazzini, F. Marchi, L. Corrado, S. D’Alfonso, A. Bertolotto, M. Gionco, D. Leotta, E. Oddenino, R. Cavallo, M. De Mattei, G. Gusmaroli, C. Comi, C. Labate, F. Poglio, L. Ruiz, D. Ferrandi, L. Testa, E. Rota, M. Aguggia, N. Di Vito, P. Meineri, P. Ghiglione, N. Launaro, M. Dotta, A. Sapio, M. Giovanni, J. Mandrioli, J. Mandrioli, N. Fini, I. Martinelli, E. Zucchi, G. Gianferrari, C. Simonini, M. Vinceti, S. Meletti, V. Vacchiano, R. Liguori, Fabrizio Salvi, Ilaria Bartolomei, Roberto Michelucci, P. Cortelli, A. M. Borghi, A. Zini, R. Rinaldi, P. Cortelli, E. Sette, V. Tugnoli, M. Pugliatti, E. Canali, L. Codeluppi, F. Valzania, L. Zinno, G. Pavesi, D. Medici, G. Pilurzi, E. Terlizzi, D. Guidetti, S. Pasqua, M. Santangelo, M. Bracaglia, P. DeMassis, M. Casmiro, P. Querzani, S. Morresi, M. Longoni, A. Patuelli, S. Malagù, M. Longoni, M. Currò Dossi, S. Vidale Journal of Neurology, 2022
Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes Antonio Canosa, Andrea Calvo, Cristina Moglia, Rosario Vasta, Francesca Palumbo, Luca Solero, Francesca Di Pede, Sara Cabras, Vincenzo Arena, Grazia Zocco, Federico Casale, Maura Brunetti, Luca Sbaiz, Salvatore Gallone, Maurizio Grassano, Umberto Manera, Marco Pagani, Adriano Chiò European Journal of Nuclear Medicine and Molecular Imaging, 2022
Identifying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study Faraz Faghri, Fabian Brunn, Anant Dadu, Adriano Chiò, Andrea Calvo, Cristina Moglia, Antonio Canosa, Umberto Manera, Rosario Vasta, Francesca Palumbo, Alessandro Bombaci, Maurizio Grassano, Maura Brunetti, Federico Casale, Giuseppe Fuda, Paolina Salamone, Barbara Iazzolino, Laura Peotta, Paolo Cugnasco, Giovanni De Marco, Maria Claudia Torrieri, Salvatore Gallone, Marco Barberis, Luca Sbaiz, Salvatore Gentile, Alessandro Mauro, Letizia Mazzini, Fabiola De Marchi, Lucia Corrado, Sandra D'Alfonso, Antonio Bertolotto, Daniele Imperiale, Marco De Mattei, Salvatore Amarù, Cristoforo Comi, Carmelo Labate, Fabio Poglio, Luigi Ruiz, Lucia Testa, Eugenia Rota, Paolo Ghiglione, Nicola Launaro, Alessia Di Sapio, Jessica Mandrioli, Nicola Fini, Ilaria Martinelli, Elisabetta Zucchi, Giulia Gianferrari, Cecilia Simonini, Stefano Meletti, Rocco Liguori, Veria Vacchiano, Fabrizio Salvi, Ilaria Bartolomei, Roberto Michelucci, Pietro Cortelli, Rita Rinaldi, Anna Maria Borghi, Andrea Zini, Elisabetta Sette, Valeria Tugnoli, Maura Pugliatti, Elena Canali, Luca Codeluppi, Franco Valzania, Lucia Zinno, Giovanni Pavesi, Doriana Medici, Giovanna Pilurzi, Emilio Terlizzi, Donata Guidetti, Silvia De Pasqua, Mario Santangelo, Patrizia De Massis, Martina Bracaglia, Mario Casmiro, Pietro Querzani, Simonetta Morresi, Marco Longoni, Alberto Patuelli, Susanna Malagù, Marco Currò Dossi, Simone Vidale, Salvatore Ferro, Elisabetta Zucchi, Ilaria Martinelli, Letizia Mazzini, Rosario Vasta, Antonio Canosa, Cristina Moglia, Andrea Calvo, Michael A Nalls, Roy H Campbell, Jessica Mandrioli, Bryan J Traynor, Adriano Chiò Lancet Digital Health, 2022
GBA variants influence cognitive status in amyotrophic lateral sclerosis Antonio Canosa, Maurizio Grassano, Cristina Moglia, Barbara Iazzolino, Laura Peotta, Salvatore Gallone, Maura Brunetti, Marco Barberis, Luca Sbaiz, Francesca Palumbo, Sara Cabras, Umberto Manera, Rosario Vasta, Bryan Traynor, Lucia Corrado, Sandra D'Alfonso, Letizia Mazzini, Andrea Calvo, Adriano Chio Journal of Neurology Neurosurgery and Psychiatry, 2022
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. Wood, Simon Topp, Rosa Rademakers, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Stephan Ripke, Alice Braun, Julia Kraft, David C. Whiteman, Catherine M. Olsen, Andre G. Uitterlinden, Albert Hofman, Marcella Rietschel, Sven Cichon, Markus M. Nöthen, Philippe Amouyel, Giancarlo Comi, Nilo Riva, Christian Lunetta, Francesca Gerardi, Maria Sofia Cotelli, Fabrizio Rinaldi, Luca Chiveri, Maria Cristina Guaita, Patrizia Perrone, Mauro Ceroni, Luca Diamanti, Carlo Ferrarese, Lucio Tremolizzo, Maria Luisa Delodovici, Giorgio Bono, Antonio Canosa, Umberto Manera, Rosario Vasta, Alessandro Bombaci, Federico Casale, Giuseppe Fuda, Paolina Salamone, Barbara Iazzolino, Laura Peotta, Paolo Cugnasco, Giovanni De Marco, Maria Claudia Torrieri, Francesca Palumbo, Salvatore Gallone, Marco Barberis, Luca Sbaiz, Salvatore Gentile, Alessandro Mauro, Letizia Mazzini, Fabiola De Marchi, Lucia Corrado, Sandra D’Alfonso, Antonio Bertolotto, Maurizio Gionco, Daniela Leotta, Enrico Odddenino, Daniele Imperiale, Roberto Cavallo, Pietro Pignatta, Marco De Mattei, Claudio Geda, Diego Maria Papurello, Graziano Gusmaroli, Cristoforo Comi, Carmelo Labate, Luigi Ruiz, Delfina Ferrandi, Eugenia Rota, Marco Aguggia, Nicoletta Di Vito, Piero Meineri, Paolo Ghiglione, Nicola Launaro, Michele Dotta, Alessia Di Sapio, Guido Giardini, Cinzia Tiloca, Silvia Peverelli, Franco Taroni, Viviana Pensato, Barbara Castellotti, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Lucia Corrado, Letizia Mazzini, Flavia Raggi, Costanza Simoncini, Annalisa Lo Gerfo, Maurizio Inghilleri, Alessandra Ferlini, Isabella L. Simone, Bruno Passarella, Vito Guerra, Stefano Zoccolella, Cecilia Nozzoli, Ciro Mundi, Maurizio Leone, Michele Zarrelli, Filippo Tamma, Francesco Valluzzi, Gianluigi Calabrese, Giovanni Boero, Augusto Rini, Bryan J. Traynor, Andrew B. Singleton, Miguel Mitne Neto, Ruben J. Cauchi, Roel A. Ophoff, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivianna M. van Deerlin, Julian Grosskreutz, Annekathrin Roediger, Nayana Gaur, Alexander Jörk, Tabea Barthel, Erik Theele, Benjamin Ilse, Beatrice Stubendorff, Otto W. Witte, Robert Steinbach, Christian A. Hübner, Caroline Graff, Lev Brylev, Vera Fominykh, Vera Demeshonok, Anastasia Ataulina, Boris Rogelj, Blaž Koritnik, Janez Zidar, Metka Ravnik-Glavač, Damjan Glavač, Zorica Stević, Vivian Drory, Monica Povedano, Ian P. Blair, Matthew C. Kiernan, Beben Benyamin, Robert D. Henderson, Sarah Furlong, Susan Mathers, Pamela A. McCombe, Merrilee Needham, Shyuan T. Ngo, Garth A. Nicholson, Roger Pamphlett, Dominic B. Rowe, Frederik J. Steyn, Kelly L. Williams, Karen A. Mather, Perminder S. Sachdev, Anjali K. Henders, Leanne Wallace, Mamede de Carvalho, Susana Pinto, Susanne Petri, Markus Weber, Guy A. Rouleau, Vincenzo Silani, Charles J. Curtis, Gerome Breen, Jonathan D. Glass, Robert H. Brown, John E. Landers, Christopher E. Shaw, Peter M. Andersen, Ewout J. N. Groen, Michael A. van Es, R. Jeroen Pasterkamp, Dongsheng Fan, Fleur C. Garton, Allan F. McRae, George Davey Smith, Tom R. Gaunt, Michael A. Eberle, Jonathan Mill, Russell L. McLaughlin, Orla Hardiman, Kevin P. Kenna, Naomi R. Wray, Ellen Tsai, Heiko Runz, Lude Franke, Ammar Al-Chalabi, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink, , , , and Nature Genetics, 2022
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS Paul J. Hop, Ramona A.J. Zwamborn, Eilis Hannon, Gemma L. Shireby, Marta F. Nabais, Emma M. Walker, Wouter van Rheenen, Joke J.F.A. van Vugt, Annelot M. Dekker, Henk-Jan Westeneng, Gijs H.P. Tazelaar, Kristel R. van Eijk, Matthieu Moisse, Denis Baird, Ahmad Al Khleifat, Alfredo Iacoangeli, Nicola Ticozzi, Antonia Ratti, Jonathan Cooper-Knock, Karen E. Morrison, Pamela J. Shaw, A. Nazli Basak, Adriano Chiò, Andrea Calvo, Cristina Moglia, Antonio Canosa, Maura Brunetti, Maurizio Grassano, Marc Gotkine, Yossef Lerner, Michal Zabari, Patrick Vourc’h, Philippe Corcia, Philippe Couratier, Jesus S. Mora Pardina, Teresa Salas, Patrick Dion, Jay P. Ross, Robert D. Henderson, Susan Mathers, Pamela A. McCombe, Merrilee Needham, Garth Nicholson, Dominic B. Rowe, Roger Pamphlett, Karen A. Mather, Perminder S. Sachdev, Sarah Furlong, Fleur C. Garton, Anjali K. Henders, Tian Lin, Shyuan T. Ngo, Frederik J. Steyn, Leanne Wallace, Kelly L. Williams, Miguel Mitne Neto, Ruben J. Cauchi, Ian P. Blair, Matthew C. Kiernan, Vivian Drory, Monica Povedano, Mamede de Carvalho, Susana Pinto, Markus Weber, Guy A. Rouleau, Vincenzo Silani, John E. Landers, Christopher E. Shaw, Peter M. Andersen, Allan F. McRae, Michael A. van Es, R. Jeroen Pasterkamp, Naomi R. Wray, Russell L. McLaughlin, Orla Hardiman, Kevin P. Kenna, Ellen Tsai, Heiko Runz, Ammar Al-Chalabi, Leonard H. van den Berg, Philip Van Damme, Jonathan Mill, Jan H. Veldink, Bastiaan T. Heijmans, Peter A.C. t Hoen, Joyce van Meurs, Rick Jansen, Lude Franke, Dorret I. Boomsma, Rene Pool, Jenny van Dongen, Joukje J. Hottenga, Marleen M.J. van Greevenbroek, Coen D.A. Stehouwer, Carla J.H. van der Kallen, Casper G. Schalkwijk, Cisca Wijmenga, Lude Franke, Sasha Zhernakova, Ettje F. Tigchelaar, P. Eline Slagboom, Marian Beekman, Joris Deelen, Diana van Heemst, Jan H. Veldink, Leonard H. van den Berg, Cornelia M. van Duijn, Bert A. Hofman, Aaron Isaacs, Andre G. Uitterlinden, Joyce van Meurs, P. Mila Jhamai, Michael Verbiest, H. Eka D. Suchiman, Marijn Verkerk, Ruud van der Breggen, Jeroen van Rooij, Nico Lakenberg, Hailiang Mei, Maarten van Iterson, Michiel van Galen, Jan Bot, Dasha V. Zhernakova, Rick Jansen, Peter van ‘t Hof, Patrick Deelen, Irene Nooren, Peter A.C. t Hoen, Bastiaan T. Heijmans, Matthijs Moed, Lude Franke, Martijn Vermaat, Dasha V. Zhernakova, Rene Luijk, Marc Jan Bonder, Maarten van Iterson, Patrick Deelen, Freerk van Dijk, Michiel van Galen, Wibowo Arindrarto, Szymon M. Kielbasa, Morris A. Swertz, Erik W. van Zwet, Rick Jansen, Peter A.C. t Hoen, Bastiaan T. Heijmans, Ammar Al-Chalabi, Naomi R. Wray, Gilbert Bensimon, Orla Hardiman, Adriano Chio, Jan H. Veldink, George Davey Smith, Jonathan Mill, , and Science Translational Medicine, 2022
What is amyotrophic lateral sclerosis prevalence? Rosario Vasta, Cristina Moglia, Umberto Manera, Antonio Canosa, Maurizio Grassano, Francesca Palumbo, Paolo Cugnasco, Fabiola De Marchi, Letizia Mazzini, Andrea Calvo, Adriano ChiÒ Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2022
A novel splice site FUS mutation in a familial ALS case: effects on protein expression Antonio Canosa, Annarosa Lomartire, Giovanni De Marco, Maurizio Grassano, Maura Brunetti, Umberto Manera, Rosario Vasta, Paolina Salamone, Giuseppe Fuda, Luca Sbaiz, Salvatore Gallone, Cristina Moglia, Andrea Calvo, Adriano Chiò Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2022
Amyotrophic lateral sclerosis caregiver burden and patients’ quality of life during COVID-19 pandemic Silvia Giusiano, Laura Peotta, Barbara Iazzolino, Enza Mastro, Martina Arcari, Francesca Palumbo, Maria Claudia Torrieri, Alessandro Bombaci, Maurizio Grassano, Sara Cabras, Francesca Di Pede, Filippo DeMattei, Enrico Matteoni, Luca Solero, Margherita Daviddi, Paolina Salamone, Giuseppe Fuda, Umberto Manera, Antonio Canosa, Adriano Chiò, Andrea Calvo, Cristina Moglia, Rosario Vasta Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2022
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. 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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Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort Maurizio Grassano, Andrea Calvo, Cristina Moglia, Maura Brunetti, Marco Barberis, Luca Sbaiz, Antonio Canosa, Umberto Manera, Rosario Vasta, Lucia Corrado, Sandra D'Alfonso, Letizia Mazzini, Sonja W. Scholz, Clifton Dalgard, Jinhui Ding, Raphael J. Gibbs, Ruth Chia, Bryan J. Traynor, Adriano Chiò, The American Genomic Center Neurology, 2021
Validation of the Italian version of self-administered ALSFRS-R scale Umberto Manera, Sara Cabras, Margherita Daviddi, Rosario Vasta, Maria Claudia Torrieri, Francesca Palumbo, Alessandro Bombaci, Maurizio Grassano, Luca Solero, Laura Peotta, Barbara Iazzolino, Antonio Canosa, Andrea Calvo, Adriano Chiò, Cristina Moglia Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021
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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
Secular trends of amyotrophic lateral sclerosis: The Piemonte and Valle d’Aosta register Adriano Chiò, Gabriele Mora, Cristina Moglia, Umberto Manera, Antonio Canosa, Stefania Cammarosano, Antonio Ilardi, Davide Bertuzzo, Enrica Bersano, Paolo Cugnasco, Maurizio Grassano, Fabrizio Pisano, Letizia Mazzini, Andrea Calvo, for the Piemonte, Valle d’Aosta Register for ALS (PARALS) JAMA Neurology, 2017
RECENT SCHOLAR PUBLICATIONS
MYC-driven gliosis impairs neuron-glia communication in amyotrophic lateral sclerosis PV Fioretti, A Barbieri, A Migazzi, D Bressan, M Grassano, L Donini, ... Brain 149 (5), 1604-1622 , 2026 2026 Citations: 2
Machine learning model based on plasma proteomics for the identification of Parkinson’s disease B Adewale, R Chia, R Moaddel, N Landeck, M Rasheed, C Alba, P Reho, ... Brain, awag140 , 2026 2026
Genetic analysis of neurodegenerative diseases M Grassano, AB Schindler, BJ Traynor, SW Scholz The Journal of Clinical Investigation 136 (7) , 2026 2026 Citations: 1
Brain metabolic connectivity in ALS due to C9ORF72 hexanucleotide expansion: a [18F] FDG-PET study A Canosa, S Callegaro, U Manera, R Vasta, S Cabras, F Di Pede, ... European Journal of Nuclear Medicine and Molecular Imaging 53 (4), 2786-2798 , 2026 2026
The Epidemiology of Primary Lateral Sclerosis: Results from a Population‐Based Cohort R Vasta, E Matteoni, G Pellegrino, A Canosa, U Manera, F Palumbo, ... Annals of Neurology 99 (3), 606-613 , 2026 2026 Citations: 1
Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect? M Grassano, F Palumbo, G Mora, S Gallone, G De Marco, I Merulla, ... Annals of Neurology , 2026 2026
Long-Term Tofersen in SOD1 Amyotrophic Lateral Sclerosis TM Miller, ME Cudkowicz, PJ Shaw, A Genge, G Sobue, RC Bucelli, ... JAMA neurology 83 (2), 115-125 , 2026 2026 Citations: 10
Amyotrophic lateral sclerosis prevalence projection in 2040: a less rare disease R Vasta, S Callegaro, A Canosa, U Manera, M Grassano, F Palumbo, ... Annals of Clinical and Translational Neurology 13 (2), 379-386 , 2026 2026 Citations: 3
Role of 2-[ 18 F]FDG-PET as a biomarker of upper motor neuron involvement in amyotrophic lateral sclerosis S Cabras, U Manera, F Di Pede, G Zocco, R Vasta, A Novara, E Minerva, ... Journal of Neurology 272 (12), 766 , 2025 2025 Citations: 1
Cognitive Reserve in Amyotrophic Lateral Sclerosis: A 2‐[ 18 F]FDG‐PET Study on Sex‐Related Differences A Canosa, S Callegaro, U Manera, R Vasta, S Cabras, F Di Pede, ... European Journal of Neurology 32 (11), e70412 , 2025 2025
Genetic Variants Associated With Neurodegenerative Disorders in Patients With Amyotrophic Lateral Sclerosis and Phenotypic Variability M Grassano, E Koumantakis, FF Palumbo, M Brunetti, G De Marco, ... Neurology 105 (8), e214180 , 2025 2025
Proteomics Identifies a Panel of Plasma Proteins That Can Be Used as a Diagnostic Biomarker of ALS R Chia, R Moaddel, J Kwan, M Rasheed, P Ruffo, N Landeck, P Reho, ... MUSCLE & NERVE 72, S97-S97 , 2025 2025
A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosis R Chia, R Moaddel, JY Kwan, M Rasheed, P Ruffo, N Landeck, P Reho, ... Nature medicine 31 (10), 3440-3450 , 2025 2025 Citations: 27
Lifetime Physical Activity as an Environmental Modifier of ALS Phenotype M Grassano, C Moglia, A Calvo, A Chia ANNALS OF NEUROLOGY 98 , 2025 2025
Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes A Manini, A Brusati, M Grassano, G Scacciatella, S Peverelli, J Spagliardi, ... Journal of Neurology 272 (9), 587 , 2025 2025 Citations: 3
Exploring the phenotypic fingerprints of ANXA11 variants in ALS: a population-based study in an European cohort F Palumbo, B Iazzolino, C Moglia, U Manera, E Matteoni, S Cabras, ... Journal of Neurology 272 (8), 524 , 2025 2025 Citations: 1
Phosphatemia is an independent prognostic Factor in amyotrophic lateral sclerosis R Vasta, E Koumantakis, A Canosa, U Manera, M Grassano, F Palumbo, ... Annals of Neurology 98 (2), 286-293 , 2025 2025 Citations: 3
Another brick in our knowledge of ALS causes: a population-based study of residential clustering S Callegaro, U Manera, A Canosa, M Grassano, F Palumbo, S Cabras, ... Journal of Neurology, Neurosurgery & Psychiatry 96 (8), 821-822 , 2025 2025
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis A Manini, R Vasta, A Brusati, F Scheveger, S Peverelli, A Maranzano, ... Annals of Clinical and Translational Neurology 12 (7), 1499-1503 , 2025 2025 Citations: 2
FUS mislocalization rewires a cortical gene network to drive cognitive and behavioral impairment in ALS R Cassel, F Lorenc, A Bombardier, C De Tapia, S Dieterle, CG Roque, ... medRxiv , 2025 2025 Citations: 4
MOST CITED SCHOLAR PUBLICATIONS
Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1267-1288 , 2018 2018 Citations: 800
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ... Nature genetics 53 (12), 1636-1648 , 2021 2021 Citations: 594
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture R Chia, MS Sabir, S Bandres-Ciga, S Saez-Atienzar, RH Reynolds, ... Nature genetics 53 (3), 294-303 , 2021 2021 Citations: 443
ALS phenotype is influenced by age, sex, and genetics: a population-based study A Chiò, C Moglia, A Canosa, U Manera, F D'Ovidio, R Vasta, M Grassano, ... Neurology 94 (8), e802-e810 , 2020 2020 Citations: 224
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis S Bandres‐Ciga, AJ Noyce, G Hemani, A Nicolas, A Calvo, G Mora, ... Annals of neurology 85 (4), 470-481 , 2019 2019 Citations: 205
Early weight loss in amyotrophic lateral sclerosis: outcome relevance and clinical correlates in a population-based cohort C Moglia, A Calvo, M Grassano, A Canosa, U Manera, F D'Ovidio, ... Journal of Neurology, Neurosurgery & Psychiatry 90 (6), 666-673 , 2019 2019 Citations: 133
Secular trends of amyotrophic lateral sclerosis: the Piemonte and Valle d’Aosta register A Chiò, G Mora, C Moglia, U Manera, A Canosa, S Cammarosano, A Ilardi, ... JAMA neurology 74 (9), 1097-1104 , 2017 2017 Citations: 132
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS PJ Hop, RAJ Zwamborn, E Hannon, GL Shireby, MF Nabais, EM Walker, ... Science translational medicine 14 (633), eabj0264 , 2022 2022 Citations: 106
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis JO Johnson, R Chia, DE Miller, R Li, R Kumaran, Y Abramzon, ... JAMA neurology 78 (10), 1236-1248 , 2021 2021 Citations: 96
Systematic evaluation of genetic mutations in ALS: a population-based study M Grassano, A Calvo, C Moglia, L Sbaiz, M Brunetti, M Barberis, F Casale, ... Journal of Neurology, Neurosurgery & Psychiatry 93 (11), 1190-1193 , 2022 2022 Citations: 74
Identifying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study F Faghri, F Brunn, A Dadu, A Chiò, A Calvo, C Moglia, A Canosa, ... The Lancet Digital Health 4 (5), e359-e369 , 2022 2022 Citations: 71
Integrative genetic analysis illuminates ALS heritability and identifies risk genes S Megat, N Mora, J Sanogo, O Roman, A Catanese, NO Alami, ... Nature communications 14 (1), 342 , 2023 2023 Citations: 57
Sex differences in amyotrophic lateral sclerosis survival and progression: a multidimensional analysis M Grassano, C Moglia, F Palumbo, E Koumantakis, P Cugnasco, ... Annals of Neurology 96 (1), 159-169 , 2024 2024 Citations: 56
Mutational analysis of known ALS genes in an Italian population-based cohort M Grassano, A Calvo, C Moglia, M Brunetti, M Barberis, L Sbaiz, ... Neurology 96 (4), e600-e609 , 2021 2021 Citations: 48
Telemedicine for patients with amyotrophic lateral sclerosis during COVID-19 pandemic: an Italian ALS referral center experience R Vasta, C Moglia, F D’Ovidio, F Di Pede, F De Mattei, S Cabras, L Peotta, ... Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 22 (3-4), 308-311 , 2021 2021 Citations: 47
Influence of arterial hypertension, type 2 diabetes and cardiovascular risk factors on ALS outcome: a population-based study C Moglia, A Calvo, A Canosa, D Bertuzzo, P Cugnasco, L Solero, ... Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 18 (7-8), 590-597 , 2017 2017 Citations: 43
The interplay among education, brain metabolism, and cognitive impairment suggests a role of cognitive reserve in amyotrophic lateral sclerosis A Canosa, F Palumbo, B Iazzolino, L Peotta, F Di Pede, U Manera, ... Neurobiology of Aging 98, 205-213 , 2021 2021 Citations: 42
Effects of intracellular calcium accumulation on proteins encoded by the major genes underlying amyotrophic lateral sclerosis G De Marco, A Lomartire, U Manera, A Canosa, M Grassano, F Casale, ... Scientific Reports 12 (1), 395 , 2022 2022 Citations: 40
Differential Neuropsychological Profile of Patients With Amyotrophic Lateral Sclerosis With and Without C9orf72 Mutation B Iazzolino, L Peotta, JP Zucchetti, A Canosa, U Manera, R Vasta, ... Neurology 96 (1), e141-e152 , 2021 2021 Citations: 37
Phenotype analysis of fused in sarcoma mutations in amyotrophic lateral sclerosis M Grassano, G Brodini, G De Marco, F Casale, G Fuda, P Salamone, ... Neurology: Genetics 8 (5), e200011 , 2022 2022 Citations: 36
