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Experimental Neurology|August 13, 2013
Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypesJean-François Desaphy, Gianluca Gramegna, Concetta Altamura, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 7, 2006
Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patientsAnna Modoni, Maria Fiorella Contarino, Anna Rita Bentivoglio, et al.
Scientific Reports|July 6, 2017
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxiaSonia Hasan, Cecilia Bove, Gabriella Silvestri, et al.
Journal of Clinical Medicine|December 23, 2023
Intensive Care Unit-Acquired Weakness after Liver Transplantation: Analysis of Seven Cases and a Literature ReviewRita Gaspari, Giorgia Spinazzola, Paola Aceto, et al.
Neurology|May 11, 2016
Translational approach to address therapy in myotonia permanens due to a new SCN4A mutationJean-François Desaphy, Roberta Carbonara, Adele D'Amico, et al.
European Neurology|March 14, 2018
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2Salvatore Rossi, Angela Romano, Anna Modoni, et al.
Neuromuscular Disorders : NMD|March 2, 2024
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN geneAlessia Perna, Luca Bosco, Fabiana Fattori, et al.
Brain Sciences|August 26, 2022
Nerve Conduction Studies of Dorsal Sural Nerve: Normative Data and Its Potential Application in ATTRv Pre-Symptomatic SubjectsMarco Luigetti, Valeria Guglielmino, Marina Romozzi, et al.
Neuromuscular Disorders : NMD|July 8, 2023
Clinical, neurophysiological and serological clues for the diagnosis of neuromyotonia and distinction from cramp-fasciculation syndromeGregorio Spagni, Anna Modoni, Guido Primiano, et al.
Journal of Neurology|May 16, 2022
Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1)Tommaso F Nicoletti, Salvatore Rossi, Maria Gabriella Vita, et al.
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