Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.

doi:10.1007/s00415-015-7727-2

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

Community

Back to search

Article

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.

Journal of neurology - 1 Sept 2015

Strickland Alleene V, Schabhüttl Maria, Offenbacher Hans, Synofzik Matthis, Hauser Natalie S, Brunner-Krainz Michaela, Gruber-Sedlmayr Ursula, Moore Steven A, Windhager Reinhard, Bender Benjamin, Harms Matthew, Klebe Stephan, Young Peter, Kennerson Marina, Garcia Avencia Sanchez Mejias, Gonzalez Michael A, Züchner Stephan, Schule Rebecca, Shy Michael E, Auer-Grumbach Michaela

Abstract excerpt

Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) encodes a necessary subunit of the cytoplasmic dynein complex, which traffics cargo along microtubules. Dominant DYNC1H1 mutations are implicated in neural diseases, including spinal muscular atrophy with lower extremity dominance (SMA-LED), intellectual disability with neuronal migration defects, malformations of cortical development, and Charcot-Marie-Tooth...

Read the complete abstract on PubMed

Topics

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

Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoplasmic Dyneins

Share to DNA Mutational Analysis

Share to Motor Neuron Disease

Share to Motor Neurons

Share to Muscle, Skeletal

Share to Mutation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 26100331
DOI: 10.1007/s00415-015-7727-2
PMCID: PMC4573829

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.PMID 26100331Read ↗

Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.Semantic proximity Read ↗

Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.Semantic proximity Read ↗

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.Semantic proximity Read ↗

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.Semantic proximity Read ↗

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.Semantic proximity Read ↗

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.Semantic proximity Read ↗

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.Semantic proximity Read ↗

Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.Semantic proximity Read ↗

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defectsSemantic proximity Read ↗

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.Semantic proximity Read ↗

Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 MutationsSemantic proximity Read ↗

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