Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
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Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismCerebral cortex expansion and folding: what have we learned?Axonal transport: cargo-specific mechanisms of motility and regulationNeuronal migration and its disorders affecting the CA3 regionJIP3 Activates Kinesin-1 Motility to Promote Axon ElongationNon-centrosomal nucleation mediated by augmin organizes microtubules in post-mitotic neurons and controls axonal microtubule polarity.Genetic Basis of Brain MalformationsNext-Generation Sequencing in Intellectual DisabilityBeta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdownUner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stabilityDe Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeTUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.Mechanism and regulation of cytoplasmic dyneinSelf-propelling vesicles define glycolysis as the minimal energy machinery for neuronal transport.The genetics of lissencephaly.Polymicrogyria: a common and heterogeneous malformation of cortical development.Malformations of cortical development: genetic mechanisms and diagnostic approachWhole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathiesInherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical developmentWhole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.WONOEP appraisal: new genetic approaches to study epilepsyPolymicrogyria: pathology, fetal origins and mechanisms.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophiesGenomic variants and variations in malformations of cortical development.Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.Somatic mutations in cerebral cortical malformations.Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.Morphological and functional aspects of progenitors perturbed in cortical malformations.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.Single-cell-level spatial gene expression in the embryonic neural differentiation nicheMutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.Low dietary protein content alleviates motor symptoms in mice with mutant dynactin/dynein-mediated neurodegenerationExome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.γ-Tubulin complexes in microtubule nucleation and beyond.De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 21 April 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations in TUBG1, DYNC1H1, K ...... l development and microcephaly
@en
Mutations in TUBG1, DYNC1H1, K ...... development and microcephaly.
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type
label
Mutations in TUBG1, DYNC1H1, K ...... l development and microcephaly
@en
Mutations in TUBG1, DYNC1H1, K ...... development and microcephaly.
@nl
prefLabel
Mutations in TUBG1, DYNC1H1, K ...... l development and microcephaly
@en
Mutations in TUBG1, DYNC1H1, K ...... development and microcephaly.
@nl
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Mutations in TUBG1, DYNC1H1, K ...... l development and microcephaly
@en
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Benjamin Saint Pierre
Bernardo Dalla Bernadina
Cecile Masson
Claude Cances
Cyril Gitiaux
Cécile Boscheron
David Geneviève
Franscesca Darra
Guoling Tian
Jamel Chelly
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10.1038/NG.2613
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P577
2013-04-21T00:00:00Z