Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype
Author:
Publisher
BMJ
Subject
Psychiatry and Mental health,Neurology (clinical),Surgery
Reference4 articles.
1. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy;Neveling;Am J Hum Genet,2013
2. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance;Peeters;Am J Hum Genet,2013
3. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia;Oates;Am J Hum Genet,2013
4. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy;Harms;Neurology,2012
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1. A Structural Model for the Core Nup358-BicD2 Interface;Biomolecules;2023-09-26
2. Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants;International Journal of Molecular Sciences;2023-04-06
3. Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders;PLOS Genetics;2023-03-17
4. Coil-to-α-helix transition at the Nup358-BicD2 interface activates BicD2 for dynein recruitment;eLife;2022-03-01
5. Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED);BMJ Case Reports;2022-03
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