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Neurobiology of Disease|January 25, 2020
Distal motor neuropathy associated with novel EMILIN1 mutationMichele Iacomino, Roberto Doliana, Maria Marchese, et al.Annals of Clinical and Translational Neurology|March 26, 2026
SPG4 and Dementia: Expanding the Clinical SpectrumEmanuele Panza, Arun Meyyazhagan, Eliseo Picchi, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 8, 2024
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language developmentBenoit Mazel, Julian Delanne, Aurore Garde, et al.Journal of Neuromuscular Diseases|February 11, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesMarco Savarese, Mridul Johari, Katherine Johnson, et al.European Journal of Human Genetics : EJHG|March 3, 2016
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)Alessia Micalizzi, Andrea Poretti, Marta Romani, et al.Journal of Neurology|January 8, 2025
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinosesStefania Della Vecchia, Nicola Gammaldi, Ivana Ricca, et al.Neurology|February 6, 2015
Prevalence of congenital muscular dystrophy in Italy: a population studyAlessandra Graziano, Flaviana Bianco, Adele D'Amico, et al.Neuromuscular Disorders : NMD|June 9, 2018
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe diseaseMarco Savarese, Annalaura Torella, Olimpia Musumeci, et al.Neurology|May 3, 2013
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutationMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.Journal of Neurology|December 31, 2013
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.Pageof 20