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Nature|July 18, 2012
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisChi-Hong Wu, Claudia Fallini, Nicola Ticozzi, et al.
Brain : a Journal of Neurology|September 26, 2025
MYC-driven gliosis impairs neuron-glia communication in amyotrophic lateral sclerosisPaolo Vincenzo Fioretti, Anna Barbieri, Alice Migazzi, et al.
NPJ Digital Medicine|June 4, 2026
ChatGPT in the diagnosis and management of complex polyneuropathies: comparative analysis with neurologists using real-world casesAlberto De Lorenzo, Giulia Sofia Moretti, Alessandro Bertini, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experienceFernanda Fortunato, Francesca Bianchi, Giulia Ricci, et al.
European Journal of Human Genetics : EJHG|June 14, 2012
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founderBradley N Smith, Stephen Newhouse, Aleksey Shatunov, et al.
Nature Communications|November 13, 2022
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease durationSarah Opie-Martin, Alfredo Iacoangeli, Simon D Topp, et al.
JAMA Neurology|June 1, 2016
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral SclerosisIsabella Fogh, Kuang Lin, Cinzia Tiloca, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 20, 2009
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosisJohn E Landers, Judith Melki, Vincent Meininger, et al.
Science Translational Medicine|May 5, 2017
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosisBradley N Smith, Simon D Topp, Claudia Fallini, et al.
Human Molecular Genetics|November 22, 2013
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosisIsabella Fogh, Antonia Ratti, Cinzia Gellera, et al.
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