Mario Saporta
University of Miami(US)Dr. John T. Macdonald Foundation(US)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia(2022)226 cited
- → Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes(2020)172 cited
- → Axonal Charcot–Marie–Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties(2014)127 cited
- → Inherited Peripheral Neuropathies(2013)125 cited
- → Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice(2012)112 cited
- → Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A(2009)92 cited