Associated Papers
DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders.
Namdari M et al.
Molecular Genetics & Genomic Medicine, 2025
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
Pérez-Vidarte F et al.
Annals of Clinical and Translational Neurology, 2025
Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.
Al-Hedaithy A et al.
Scientific Reports, 2025
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.
Theuriet J et al.
European Journal of Human Genetics : Ejhg, 2024
DYNC1H1de novo mutation, spinal muscular atrophy and attention problems.
Fernández Perrone AL et al.
Neurologia, 2022
DYNC1H1 de novo mutation, spinal muscular atrophy and attention problems.
Fernández Perrone AL et al.
Neurologia, 2022
Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations.
Li JT et al.
Frontiers in Neurology, 2022
Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report.
Ding FJ et al.
World Journal of Clinical Cases, 2021
Clinical, Genetic, and Disability Profile of Pediatric Distal Hereditary Motor Neuropathy.
Argente-Escrig H et al.
Neurology, 2021
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.
Amabile S et al.
American Journal of Medical Genetics. Part A, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality.
Chan SHS et al.
Neuromuscular Disorders : Nmd, 2018
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.
Derksen A et al.
Child Neurology Open, 0
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