Associated Papers
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Fernández-Eulate G et al.
Neurology. Genetics, 2023
Neurogenic arthrogryposis and the power of phenotyping.
Rossor AM et al.
Neuromuscular Disorders : Nmd, 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
Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy.
Rossor AM et al.
Acta Neuropathologica Communications, 2020
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
31127727 (PubMed )
Supplement: sj-xlsx-1-jnd-10.3233_jnd-180376.xlsx › Blad1
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Koboldt DC et al.
Cold Spring Harbor Molecular Case Studies, 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
Structural basis for cargo binding and autoinhibition of Bicaudal-D1 by a parallel coiled-coil with homotypic registry.
Terawaki S et al.
Biochemical and Biophysical Research Communications, 2015
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
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
Peeters K et al.
Brain : a Journal of Neurology, 2014
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Oates EC et al.
American Journal of Human Genetics, 2013
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