Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance
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Emerging Insights into the Roles of Membrane Tethers from Analysis of Whole Organisms: The Tip of an Iceberg?Golgi Fragmentation in ALS Motor Neurons. New Mechanisms Targeting Microtubules, Tethers, and Transport VesiclesAxonal transport: cargo-specific mechanisms of motility and regulationNon-synonymous FGD3 Variant as Positional Candidate for Disproportional Tall Stature Accounting for a Carcass Weight QTL (CW-3) and Skeletal Dysplasia in Japanese Black CattleIn vitro reconstitution of a highly processive recombinant human dynein complexMechanism and regulation of cytoplasmic dyneinInherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophiesPhenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.Global insights into alternative polyadenylation regulation.Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyCytoplasmic dynein heavy chain: the servant of many mastersDYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Crystallographic characterization of the C-terminal coiled-coil region of mouse Bicaudal-D1 (BICD1)Cytoplasmic dynein and its regulatory proteins in Golgi pathology in nervous system disorders.Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.Disease-associated mutations in human BICD2 hyperactivate motility of dynein-dynactin.Consequences of Rab GTPase dysfunction in genetic or acquired human diseases.Identification of potential pathogenic genes associated with osteoporosis.Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).An Essential Postdevelopmental Role for Lis1 in Mice.Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.Neurochondrin interacts with the SMN protein suggesting a novel mechanism for Spinal Muscular Atrophy pathology.A role for Bicaudal-D2 in radial cerebellar granule cell migration.A novel mutation of BICD2 gene associated with juvenile amyotrophic lateral sclerosis.Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.In-frame de novo mutation in in two patients with muscular atrophy and arthrogryposis
P2860
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P2860
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Molecular defects in the motor ...... autosomal-dominant inheritance
@ast
Molecular defects in the motor ...... autosomal-dominant inheritance
@en
Molecular defects in the motor ...... autosomal-dominant inheritance
@en-gb
Molecular defects in the motor ...... autosomal-dominant inheritance
@nl
type
label
Molecular defects in the motor ...... autosomal-dominant inheritance
@ast
Molecular defects in the motor ...... autosomal-dominant inheritance
@en
Molecular defects in the motor ...... autosomal-dominant inheritance
@en-gb
Molecular defects in the motor ...... autosomal-dominant inheritance
@nl
prefLabel
Molecular defects in the motor ...... autosomal-dominant inheritance
@ast
Molecular defects in the motor ...... autosomal-dominant inheritance
@en
Molecular defects in the motor ...... autosomal-dominant inheritance
@en-gb
Molecular defects in the motor ...... autosomal-dominant inheritance
@nl
P2093
P2860
P50
P1476
Molecular defects in the motor ...... autosomal-dominant inheritance
@en
P2093
Bob Asselbergh
Elke Ydens
Ivailo Tournev
Ivan Litvinenko
Kristien Peeters
Magdalena Zimoń
Teodora Chamova
Thomas Geuens
Tinne Ooms
P2860
P304
P356
10.1016/J.AJHG.2013.04.013
P407
P577
2013-06-06T00:00:00Z