Unraveling the genetics of distal hereditary motor neuronopathies. - Wikidata - thesis-toulmin - TriplyDB

Unraveling the genetics of distal hereditary motor neuronopathies.

Unraveling the genetics of distal hereditary motor neuronopathies.

http://www.wikidata.org/entity/Q34538342

about

Differentiating lower motor neuron syndromes The critical role of membralin in postnatal motor neuron survival and disease Classification and diagnosis of the inherited neuropathies.Identification of the Drosophila ortholog of HSPB8: implication of HSPB8 loss of function in protein folding diseases.Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.Update on Charcot-Marie-Tooth disease.Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation Genetic heterogeneity of motor neuropathies Pes cavus and hereditary neuropathies: when a relationship should be suspected.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.Mutant HSPB8 causes motor neuron-specific neurite degeneration.Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease

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Unraveling the genetics of distal hereditary motor neuronopathies.

http://www.wikidata.org/entity/Q34538342

description

2006 nî lūn-bûn

@nan

2006 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի հունվարին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

Unraveling the genetics of distal hereditary motor neuronopathies.

@ast

Unraveling the genetics of distal hereditary motor neuronopathies.

@en

Unraveling the genetics of distal hereditary motor neuronopathies.

@nl

type

label

Unraveling the genetics of distal hereditary motor neuronopathies.

@ast

Unraveling the genetics of distal hereditary motor neuronopathies.

@en

Unraveling the genetics of distal hereditary motor neuronopathies.

@nl

prefLabel

Unraveling the genetics of distal hereditary motor neuronopathies.

@ast

Unraveling the genetics of distal hereditary motor neuronopathies.

@en

Unraveling the genetics of distal hereditary motor neuronopathies.

@nl

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NeuroMolecular Medicine

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Unraveling the genetics of distal hereditary motor neuronopathies.

@en

P2093

Albena Jordanova

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Ines Dierick

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Joy Irobi

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Kristl G Claeys

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Peter De Jonghe

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Vincent Timmerman

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P2860

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Hsp27 and axonal growth in adult sensory neurons in vitro

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

A functional interaction between the survival motor neuron complex and RNA polymerase II

Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins

Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

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131-146

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scholarly article

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10.1385/NMM:8:1-2:131

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1-2

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16775372

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