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
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.
Masuda L et al.
Human Genome Variation, 2024
Molecular mechanism for recognition of the cargo adapter Rab6GTP by the dynein adapter BicD2.
Zhao X et al.
Life Science Alliance, 2024
Expanding association between BICD2 variants and brain malformations and associated lissencephaly.
Cho J et al.
Clinical and Experimental Pediatrics, 2024
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
A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.
Abdel-Salam GMH et al.
Journal of Human Genetics, 2022
Undiagnosed disease program in South Africa: Results from first 100 exomes.
Moosa S et al.
American Journal of Medical Genetics. Part A, 2022
Neurogenic arthrogryposis and the power of phenotyping.
Rossor AM et al.
Neuromuscular Disorders : Nmd, 2021
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Ravenscroft G et al.
Journal of Medical Genetics, 2021
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy.
Marchionni E et al.
American Journal of Medical Genetics. Part A, 2021
A novel BICD2 mutation of a patient with Spinal Muscular Atrophy Lower Extremity Predominant 2.
Tumurkhuu M et al.
Intractable & Rare Diseases Research, 2021
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
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
Clinical spectrum of BICD2 mutations.
Frasquet M et al.
European Journal of Neurology, 2020
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Koboldt DC et al.
Annals of Neurology, 2020
Dynein activating adaptor BICD2 controls radial migration of upper-layer cortical neurons in vivo.
Will L et al.
Acta Neuropathologica Communications, 2019
Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.
Ahmed AA et al.
American Journal of Medical Genetics. Part A, 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
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
Ravenscroft G et al.
Neuromuscular Disorders : Nmd, 2016