Associated Papers
Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity.
Neiswender H et al.
Elife, 2025
Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity.
Neiswender H et al.
Biorxiv : the Preprint Server for Biology, 2025
Cargo recognition of Nesprin-2 by the dynein adapter Bicaudal D2 for a nuclear positioning pathway that is important for neuronal migration.
Putta S et al.
Biorxiv : the Preprint Server for Biology, 2025
Molecular mechanism for recognition of the cargo adapter Rab6GTP by the dynein adapter BicD2.
Zhao X et al.
Life Science Alliance, 2024
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Koboldt DC et al.
Annals of Neurology, 2020
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
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
A novel mutation of BICD2 gene associated with juvenile amyotrophic lateral sclerosis.
Huang X et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017
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