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
Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.
Nurputra DK et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Concurrent Preimplantation Genetic Testing and Competence Assessment of Human Embryos by Transcriptome Sequencing.
Wang Y et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024
DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
Wu WC et al.
Seizure, 2024
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
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Fernández-Eulate G et al.
Neurology. Genetics, 2023
Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation.
Mei Y et al.
Bmc Medical Genomics, 2023
[Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1].
Yang CJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2023
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
Su T et al.
Molecular Genetics & Genomic Medicine, 2022
Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations.
Li JT et al.
Frontiers in Neurology, 2022
De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms.
Yang H et al.
Frontiers in 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
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
Functional significance of U2AF1 S34F mutations in lung adenocarcinomas.
Esfahani MS et al.
Nature Communications, 2019
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Expanding the phenotypic spectrum associated with mutations of DYNC1H1.
Beecroft SJ et al.
Neuromuscular Disorders : Nmd, 2017
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T et al.
Bmc Medical Genetics, 2015
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
Strickland AV et al.
Journal of Neurology, 2015
Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
Peeters K et al.
Human Mutation, 2015
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Scoto M et al.
Neurology, 2015
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.
Punetha J et al.
Pediatric Neurology, 2015
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Rossor AM et al.
Brain : a Journal of Neurology, 2015
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
Fogli A et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
Fogli A et al.
Human Genetics, 2009
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
Fonknechten N et al.
Human Molecular Genetics, 2000
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