Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
about
Axonal transport: cargo-specific mechanisms of motility and regulationAxonal transport disruption in peripheral nerve disease: From Jack's discoveries as a resident to recent contributionsEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesA dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyEstablishing a novel knock-in mouse line for studying neuronal cytoplasmic dynein under normal and pathologic conditionsMutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaMechanism and regulation of cytoplasmic dyneinLocal inhibition of microtubule dynamics by dynein is required for neuronal cargo distribution.In vivo cell biology in zebrafish - providing insights into vertebrate development and disease.Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical developmentA DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophiesProfilin 1 associates with stress granules and ALS-linked mutations alter stress granule dynamics.Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophyExome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.CNS myelination requires cytoplasmic dynein function.The Genetics of Spinal Muscular Atrophy: Progress and Challenges.Low dietary protein content alleviates motor symptoms in mice with mutant dynactin/dynein-mediated neurodegenerationDominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.Cytoplasmic dynein and early endosome transportRobust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance.Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophyA novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract.Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age.Cytoplasmic dynein heavy chain: the servant of many mastersMutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephalyVariants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian familyDYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes.Microtubule-based transport in filamentous fungi.Regulated protein aggregation: stress granules and neurodegeneration
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P2860
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
description
2012 nî lūn-bûn
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2012 թուականի Մարտին հրատարակուած գիտական յօդուած
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2012 թվականի մարտին հրատարակված գիտական հոդված
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2012年の論文
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2012年学术文章
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2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
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2012年學術文章
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name
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy
@nl
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
@ast
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
@en
type
label
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy
@nl
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
@ast
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
@en
prefLabel
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy
@nl
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
@ast
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
@en
P2093
P2860
P3181
P1433
P1476
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
@en
P2093
A Jani-Acsadi
A Pestronk
K M Ori-McKenney
L J Miller
P2860
P304
P3181
P356
10.1212/WNL.0B013E3182556C05
P407
P577
2012-03-28T00:00:00Z