Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.

Neurology - 22 Nov 2016

Unger Andreas, Dekomien Gabriele, Güttsches Anne, Dreps Thomas, Kley Rudolf, Tegenthoff Martin, Ferbert Andreas, Weis Joachim, Heyer Christoph, Linke Wolfgang A, Martinez-Carrera Lilian, Storbeck Markus, Wirth Brunhilde, Hoffjan Sabine, Vorgerd Matthias

Abstract excerpt

OBJECTIVE: To expand the spectrum of bicaudal D, Drosophila, homologue 2 (BICD2) gene-related diseases, which so far includes autosomal dominant spinal muscular atrophy with lower extremity predominance 2 and hereditary spastic paraplegia due to mutations in the BICD2 gene. METHODS: We analyzed 2 independent German families with clinical, genetic, and muscle MRI studies. In both index patients, muscle...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged, 80 and over
Share to Cells, Cultured

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Lower Extremity

Share to Microtubule-Associated Proteins

Share to Muscle, Skeletal

Share to Muscular Atrophy, Spinal

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 27784775
DOI: 10.1212/WNL.0000000000003360

Genes

BICD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.PMID 27784775Read ↗

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

Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants.Semantic proximity Read ↗

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

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.Semantic proximity Read ↗

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

Clinical spectrum of BICD2 mutations.Semantic proximity Read ↗

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

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

Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophySemantic proximity Read ↗

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

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

Distal myopathy due to BICD2 mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.