Chiara Fiorillo

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

Costanza Lamperti, Greta Fabbri, Liliana Vercelli et al. · Muscle & Nerve · 2010 · 151 citations · Full text

Muscle Function, Diagnosis, Orthopaedic Surgery +17

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel, Sandra Donkervoort, Museer A. Lone et al. · Nature Medicine · 2021 · 149 citations · Full text

Amyotrophic Lateral Sclerosis, Neurological Disorder, Excess Sphingolipid Synthesis +3

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Francesca Magri, Vincenzo Nigro, C. Angelini et al. · Muscle & Nerve · 2016 · 122 citations · Full text

Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein et al. · The EMBO Journal · 2018 · 122 citations · Full text

Neurodegenerative Diseases, Neurobiology Of Disease, Molecular Neuroscience +7

The genetic basis of undiagnosed muscular dystrophies and myopathies

Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella et al. · Neurology · 2016 · 102 citations · Full text