Concepedia

Stefania Magri

SM

Statistics

Publications

37

Citations

1.9K

H-Index

25

Active since

2010

Affiliations

Fondazione IRCCS Istituto Neurologico Carlo Besta(Current)

University College London

Istituti di Ricovero e Cura a Carattere Scientifico

University of Milan

University of Naples Federico II

Stefania Magri is an author at Fondazione IRCCS Istituto Neurologico Carlo Besta specializing in life sciences, genetics, and neurogenetic disorders.

ORCID

Publications per year

2010–2024

37

Publications

37

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Daniela Di Bella, Federico Lazzaro, Alfredo Brusco et al. · Nature Genetics · 2010 · 344 citations

, , +10

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 · 177 citations · Full text

, , +11

Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

Antoni Matilla‐Dueñas, Tetsuo Ashizawa, Alexis Brice et al. · The Cerebellum · 2013 · 129 citations

, , +16

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

Matthis Synofzik, Katrien Smets, Martial Mallaret et al. · Brain · 2016 · 126 citations · Full text

, , +14

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

Menelaos Pipis, Shawna Feely, James M. Polke et al. · Brain · 2020 · 92 citations · Full text

, , +17

1–5 of 37