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Article

Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.

Journal of neurology, neurosurgery, and psychiatry - 1 May 2014

Synofzik Matthis, Martinez-Carrera Lilian A, Lindig Tobias, Schöls Ludger, Wirth Brunhilde

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24336790
DOI: 10.1136/jnnp-2013-306777

Genes

BICD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.PMID 24336790Read ↗

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.Semantic proximity Read ↗

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.Semantic proximity Read ↗

A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation.Semantic proximity Read ↗

Distal myopathy due to BICD2 mutations.Semantic proximity Read ↗

SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype.Semantic proximity Read ↗

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.Semantic proximity Read ↗

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.Semantic proximity Read ↗

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.Semantic proximity Read ↗

Clinical spectrum of BICD2 mutations.Semantic proximity Read ↗

An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?Semantic proximity Read ↗

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.Semantic proximity Read ↗

Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.Semantic proximity Read ↗

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