Associated Papers
Common Diseases in Clinical Cohorts - Not Always What They Seem.
Rahimov F et al.
The New England Journal of Medicine, 2025
Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.
Moses RG et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2025
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Fernández-Eulate G et al.
Neurology. Genetics, 2023
Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders.
Yi J et al.
Plos Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation.
Tsai MH et al.
Acta Neuropathologica Communications, 2020
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Koboldt DC et al.
Annals of Neurology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
Martinez Carrera LA et al.
Human Molecular Genetics, 2018
Abstracts of EMC2017.
Unknown Author
Journal of Muscle Research and Cell Motility, 2017
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Storbeck M et al.
European Journal of Human Genetics : Ejhg, 2017
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.
Unger A et al.
Neurology, 2016
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
Ravenscroft G et al.
Neuromuscular Disorders : Nmd, 2016
Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
Rudnik-Schöneborn S et al.
Muscle & Nerve, 2016
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Rossor AM et al.
Brain : a Journal of Neurology, 2015
Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.
Martinez-Carrera LA et al.
Frontiers in Neuroscience, 2015
Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.
Synofzik M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Neveling K et al.
American Journal of Human Genetics, 2013