Stefania Magri
Istituti di Ricovero e Cura a Carattere Scientifico(IT)Fondazione IRCCS Istituto Neurologico Carlo Besta(IT)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Neurological diseases and metabolism, Genomics and Rare Diseases
Most-Cited Works
- → Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28(2010)341 cited
- → Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes(2020)172 cited
- → Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias(2013)128 cited
- → SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study(2016)125 cited
- → Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study(2020)88 cited
- → Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients(2020)77 cited