Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
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The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical studyRescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent.Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.Amelioration of toxicity in neuronal models of amyotrophic lateral sclerosis by hUPF1.Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn (2b/-) mouse model of spinal muscular atrophy.Genome-wide approaches to dissect the roles of RNA binding proteins in translational control: implications for neurological diseasesCongenital lethal motor neuron disease with a novel defect in ribosome biogenesis.Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.CLP1 as a novel player in linking tRNA splicing to neurodegenerative disorders.Translational Identification of Transcriptional Signatures of Major Depression and Antidepressant Response.Differentiation defects in primary motoneurons from a SMARD1 mouse model that are insensitive to treatment with low dose PEGylated IGF1A major QTL on mouse chromosome 17 resulting in lifespan variability in SOD1-G93A transgenic mouse models of amyotrophic lateral sclerosis.One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.Selective vulnerability in neuronal populations in nmd/SMARD1 mice.Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotoniaSenataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patientsA Direct Comparison of IV and ICV Delivery Methods for Gene Replacement Therapy in a Mouse Model of SMARD1
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P2860
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
description
2009 nî lūn-bûn
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2009 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունիսին հրատարակված գիտական հոդված
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2009年の論文
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2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
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name
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
@ast
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
@en
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
@en-gb
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
@nl
type
label
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
@ast
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
@en
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
@en-gb
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
@nl
prefLabel
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
@ast
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
@en
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
@en-gb
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
@nl
P2093
P2860
P921
P356
P1476
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
@en
P2093
David G Schroeder
Gregory A Cox
Mariàngels de Planell-Saguer
P2860
P304
P356
10.1093/HMG/DDP134
P407
P577
2009-03-19T00:00:00Z