Concepedia

Rosemary Shy

RS

Statistics

Publications

17

Citations

1.4K

H-Index

16

Active since

2007

Affiliations

Fondazione IRCCS Istituto Neurologico Carlo Besta(Current)

Children's Hospital of Philadelphia

The University of Sydney

University College London

University of Rochester

Rosemary Shy is an author at Fondazione IRCCS Istituto Neurologico Carlo Besta specializing in charcot-marie-tooth disease, neurology, and medicine.

Publications per year

2007–2023

17

Publications

17

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Vera Fridman, Brian N. Bundy, Mary M. Reilly et al. · Journal of Neurology Neurosurgery & Psychiatry · 2014 · 344 citations · Full text

Life Sciences, Genetics, Neurology +17

Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability

Joshua Burns, Robert Ouvrier, Tim Estilow et al. · Annals of Neurology · 2012 · 178 citations

Medicine, Neurology, Pediatrics +17

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

Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the <i>MPZ</i> gene

Oranee Sanmaneechai, Shawna Feely, Steven S. Scherer et al. · Brain · 2015 · 106 citations · Full text

Life Sciences, Genetics, Neurology +17

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease

Kayla Cornett, Manoj P. Menezes, Paula Bray et al. · JAMA Neurology · 2016 · 96 citations · Full text

Medicine, Diagnostic Sciences, Pediatric Epidemiology +4

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