Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
- An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.Clin Neurol Neurosurg. 2018; 166: 1-3
- Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.Neurology. 2012; 78: 1714-1720
- Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.Am J Hum Genet. 2013; 92: 946-954
- The genotypic and phenotypic spectrum of BICD2 variants in spinal muscular atrophy.Ann Neurol. 2020; 87: 487-496
- Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.Eur J Hum Genet. 2017; 25: 1040-1048
- Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.Am J Hum Genet. 2013; 92: 955-964
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med. 2015; 17: 405-424
- Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.Am J Hum Genet. 2013; 92: 965-973
Bansagi B, Griffin H, Ramesh V, Duff J, Pyle A, Chinnery PF, et al. The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy. Brain 2015;138:e391.
- A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation.Brain Dev. 2021; 43: 135-139
- Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.Neuromuscul Disord. 2016; 26: 744-748
- In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.Cold Spring Harb Mol Case Stud. 2018; 4: a003160
- Autosomal dominant spinal muscular atrophy with lower extremity predominance: a recognizable phenotype of BICD2 mutations.Muscle Nerve. 2016; 54: 496-500