Silvia Baratta
Fondazione IRCCS Istituto Neurologico Carlo Besta(IT)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, Neurological diseases and metabolism, Metabolism and Genetic Disorders
Most-Cited Works
- → Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28(2010)341 cited
- → Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study(2020)88 cited
- → Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation(2000)87 cited
- → Molecular and functional analysis ofSLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency(2004)77 cited
- → Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families(2001)58 cited
- → Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency(2000)50 cited
- → ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy(2020)49 cited
- → The role of clinical and neuroimaging features in the diagnosis of CADASIL(2018)38 cited
- → Clinical Pregenetic Screening for Stroke Monogenic Diseases(2016)38 cited
- → CADASIL: Treatment and Management Options(2017)34 cited