Mario Saporta

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 222 citations · Full text

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo et al. · Nature Genetics · 2020 · 170 citations · Full text

Biallelic Mutations, Somatic Variant, Genetic Disorder +9

Axonal Charcot–Marie–Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties

Mario Saporta, Vu Luan Dang, Dmitri Volfson et al. · Experimental Neurology · 2014 · 127 citations · Full text

Motor Control Disorders, Neurological Disorder, Axonal Charcot–marie–tooth +16

Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice

Ágnes Patzkó, Yunhong Bai, Mario Saporta et al. · Brain · 2012 · 112 citations · Full text

Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A

Mario Saporta, István Katona, Richard A. Lewis et al. · Brain · 2009 · 92 citations · Full text