Concepedia

Mariola Skorupinska

MS

16

Publications

1.2K

Citations

13

H-Index

2017

Active since

Affiliations

National Hospital for Neurology and Neurosurgery(Current)

University College London

University of Rochester

University of Iowa

Dr. John T. Macdonald Foundation

Mariola Skorupinska is an author at National Hospital for Neurology and Neurosurgery specializing in medicine, genetics, and neurology.

Top concepts

Publications per year

2017–2024

16

Publications

16

Azithromycin in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial

Eugenia Abaleke, Mustafa Abbas, Sadia Abbasi et al. · The Lancet · 2021 · 555 citations · Full text

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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 · 170 citations · Full text

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Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

Andrea Cortese, Janel E. Wilcox, James M. Polke et al. · Neurology · 2019 · 99 citations · Full text

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 · 87 citations · Full text

Prevalence and orthopedic management of foot and ankle deformities in Charcot–Marie–Tooth disease

Matilde Laurá, Dishan Singh, Gita Ramdharry et al. · Muscle & Nerve · 2017 · 71 citations · Full text

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