The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy-Reference-Cited by-同舟云学术

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The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy

Published:2020-03-16 Issue:4 Volume:87 Page:487-496
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Koboldt Daniel C.¹²^ORCID,Waldrop Megan A.²³⁴^ORCID,Wilson Richard K.¹²,Flanigan Kevin M.²³⁴

Affiliation:

1. Institute for Genomic Medicine Nationwide Children's Hospital Columbus OH

2. Department of Pediatrics Ohio State University Columbus OH

3. Center for Gene Therapy Nationwide Children's Hospital Columbus OH

4. Department of Neurology Ohio State University Columbus OH

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25704

Reference46 articles.

1. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

2. Identification and characterization of a spinal muscular atrophy-determining gene

3. Ueber chronische spinale Muskelatrophie im Kindesalter, auf familiärer Basis

4. Infantile Spinal Muscular Atrophy

5. Autosomal dominant spinal muscular atrophy

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