Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
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Cytoskeleton Molecular Motors: Structures and Their Functions in NeuronThe Increasing Importance of Gene-Based AnalysesAxonal transport: cargo-specific mechanisms of motility and regulationMolecular underpinnings of prefrontal cortex development in rodents provide insights into the etiology of neurodevelopmental disordersWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementSliding of centrosome-unattached microtubules defines key features of neuronal phenotypeWhole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathiesDe Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical developmentExtended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.The promise of whole-exome sequencing in medical genetics.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophiesExome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encounteredSomatic mutations in cerebral cortical malformations.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.Malformations of cortical development: clinical features and genetic causesCNS myelination requires cytoplasmic dynein function.Low dietary protein content alleviates motor symptoms in mice with mutant dynactin/dynein-mediated neurodegenerationIncreased Blood-Reelin-Levels in First Episode SchizophreniaMutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.Molecular subtyping and improved treatment of neurodevelopmental disease.PATHOLOGIES OF AXONAL TRANSPORT IN NEURODEGENERATIVE DISEASESA novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract.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 microcephalyDYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes.Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders.Making headway with genetic diagnostics of intellectual disabilities.De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice.Learning disabilities in neuromuscular disorders: a springboard for adult life
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P2860
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
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2012年学术文章
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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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2012年學術文章
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name
Mutations in DYNC1H1 cause sev ...... th neuronal migration defects.
@en
Mutations in DYNC1H1 cause sev ...... th neuronal migration defects.
@nl
type
label
Mutations in DYNC1H1 cause sev ...... th neuronal migration defects.
@en
Mutations in DYNC1H1 cause sev ...... th neuronal migration defects.
@nl
prefLabel
Mutations in DYNC1H1 cause sev ...... th neuronal migration defects.
@en
Mutations in DYNC1H1 cause sev ...... th neuronal migration defects.
@nl
P2093
P50
P1476
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects
@en
P2093
Ben C J Hamel
Bert B de Vries
Bregje W M van Bon
Dorien Lugtenberg
Han G Brunner
Jeroen Schoots
Marjolein H Willemsen
Michèl A A P Willemsen
Thessa Kroes
Tjitske Kleefstra
P304
P356
10.1136/JMEDGENET-2011-100542
P407
P577
2012-03-01T00:00:00Z