Concepedia
Statistics
Publications
4
Citations
363
H-Index
Active since
2008
Affiliations
University Medical Center Groningen(Current)
University of Groningen
Radboud University Nijmegen
Radboud University Medical Center
The University of Sydney
Corien Verschuuren is an author at University Medical Center Groningen.
Publications per year
2008–2020
Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
Dora Steel, Michael Zech, Chen Zhao et al. · Annals of Neurology · 2020 · 106 citations · Full text
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
Nicole Monnier, Isabelle Marty, Julien Fauré et al. · Human Mutation · 2008 · 103 citations
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
Maartje Pennings, Meyke Schouten, Judith van Gaalen et al. · European Journal of Human Genetics · 2019 · 91 citations · Full text
Variants in <i>SLC18A3</i> , vesicular acetylcholine transporter, cause congenital myasthenic syndrome
Gina O’Grady, Corien Verschuuren, Michaela Yuen et al. · Neurology · 2016 · 63 citations
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