Associated Papers
Expanding association between BICD2 variants and brain malformations and associated lissencephaly.
Cho J et al.
Clinical and Experimental Pediatrics, 2024
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
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Koboldt DC et al.
Annals of Neurology, 2020
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
Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2.
Fiorillo C et al.
European Journal of Neurology, 2016
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