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Neuromuscular Disorders : NMD|June 19, 2017
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathyHaicui Wang, Claudia Castiglioni, Ayşe Kaçar Bayram, et al.
International Journal of Molecular Sciences|February 11, 2023
Disintegration of the NuRD Complex in Primary Human Muscle Stem Cells in Critical Illness MyopathyJoanna Schneider, Devakumar Sundaravinayagam, Alexander Blume, et al.
Frontiers in Neuroscience|November 5, 2019
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane TraffickingHaicui Wang, Ayşe Kaçar Bayram, Rosanne Sprute, et al.
Brain : a Journal of Neurology|November 1, 2017
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localizationHaicui Wang, Claire G Salter, Osama Refai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2019
The genomic and clinical landscape of fetal akinesiaMatthias Pergande, Susanne Motameny, Özkan Özdemir, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2020
Correction: The genomic and clinical landscape of fetal akinesiaMatthias Pergande, Susanne Motameny, Özkan Özdemir, et al.
American Journal of Human Genetics|August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.
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