Concepedia

Marina Dusl

MD

Statistics

Publications

16

Citations

1.3K

H-Index

16

Active since

2011

Affiliations

Ludwig-Maximilians-Universität München(Current)

Friedrich Baur Stiftung

Newcastle University

Inserm

Hospital Sant Joan de Déu Barcelona

Marina Dusl is an author at Ludwig-Maximilians-Universität München specializing in genetics, congenital myasthenic syndromes, and genetic disorders.

ORCID

Publications per year

2011–2020

16

Publications

16

Transcriptional regulator PRDM12 is essential for human pain perception

Ya-Chun Chen, Michaela Auer‐Grumbach, Shinya Matsukawa et al. · Nature Genetics · 2015 · 173 citations · Full text

, , +12

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Jan Senderek, Juliane Müller, Marina Dusl et al. · The American Journal of Human Genetics · 2011 · 173 citations · Full text

, , +10

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein et al. · The EMBO Journal · 2018 · 127 citations · Full text

, , +12

Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

Angela Abicht, Marina Dusl, Constanze Gallenmüller et al. · Human Mutation · 2012 · 117 citations

, , +16

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Sophie Nicole, Amina Chaouch, T. Torbergsen et al. · Brain · 2014 · 102 citations · Full text

, , +15

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