ArticleNeurology. Genetics2015
A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance.
Article in Neurology. Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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Who cites it
13 citing papers in PubMed, 27 citations in OpenAlex.
- The expanding clinical and genetic spectrum of DYNC1H1-related disorders.Brain : a journal of neurology · 2025Article
- Engine breakdown of lysosomes and related organelles and the resulting physiology.Frontiers in cell and developmental biology · 2025Review
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- A novel variant inCold Spring Harbor molecular case studies · 2022Review
- Discovery of specific mutations in spinal muscular atrophy patients by next-generation sequencing.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- The regulatory function of the AAA4 ATPase domain of cytoplasmic dynein.Nature communications · 2020Article
- The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.Journal of human genetics · 2020Article
- Molecular mechanism of cytoplasmic dynein tension sensing.Nature communications · 2019Article
- Neurochondrin interacts with the SMN protein suggesting a novel mechanism for spinal muscular atrophy pathology.Journal of cell science · 2018Article
- Combining Structure-Function and Single-Molecule Studies on Cytoplasmic Dynein.Methods in molecular biology (Clifton, N.J.) · 2018Article
- Dynein/dynactin is necessary for anterograde transport ofProceedings of the National Academy of Sciences of the United States of America · 2017Article
- DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Neural plasticity · 2017Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent studies have identified mutations in the dynein heavy chain gene (DYNC1H1), which lead to 2 closely related human motor neuropathies: a dominant spinal muscular atrophy with lower extremity predominance (SMALED) and axonal Charcot-Marie-Tooth (CMT) disease.(1,2) We describe the identification of a novel mutation (p.G807S) in DYNC1H1 as the cause of SMALED.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.