Paola Saveri

Statistics

Publications

Citations

972

H-Index

Active since

2011

Affiliations

Fondazione IRCCS Istituto Neurologico Carlo Besta(Current)

University College London

National Hospital for Neurology and Neurosurgery

Istituti di Ricovero e Cura a Carattere Scientifico

University of Verona

Paola Saveri is an author at Fondazione IRCCS Istituto Neurologico Carlo Besta specializing in neurogenetic disorders, genetics, and charcot-marie-tooth disease.

ORCID

Publications per year

2011–2023

Publications

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

Medicine, Genetics, Molecular Genetics +11

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

Ellen Cottenie, Andrzej Kochański, Albena Jordanova et al. · The American Journal of Human Genetics · 2014 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +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

Life Sciences, Genetics, Molecular Genetics +17

MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot–Marie–Tooth disease type 1B

Mario Saporta, Brian R. Shy, Ágnes Patzkó et al. · Brain · 2012 · 73 citations · Full text

Medicine, Neurology, Neuroscience +17

Mutations in noncoding regions of <i>GJB1</i> are a major cause of X-linked CMT

Pedro José Tomaselli, Alexander M. Rossor, Alejandro Horga et al. · Neurology · 2017 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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