Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
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Applications of Induced Pluripotent Stem Cells in Studying the Neurodegenerative DiseasesDifferentiating lower motor neuron syndromesLate onset spinal motor neuronopathy is caused by mutation in CHCHD10.Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project.New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy.Feasibility of Using Microsoft Kinect to Assess Upper Limb Movement in Type III Spinal Muscular Atrophy Patients.Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.Linking amyotrophic lateral sclerosis and spinal muscular atrophy through RNA-transcriptome homeostasis: a genomics perspective.A quadratically regularized functional canonical correlation analysis for identifying the global structure of pleiotropy with NGS data.TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.
P2860
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P2860
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
description
2014 nî lūn-bûn
@nan
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
@ast
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
@en
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
@nl
type
label
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
@ast
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
@en
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
@nl
prefLabel
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
@ast
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
@en
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
@nl
P2093
P2860
P356
P1433
P1476
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
@en
P2093
Albena Jordanova
Kristien Peeters
Teodora Chamova
P2860
P304
P356
10.1093/BRAIN/AWU169
P407
P5008
P577
2014-06-25T00:00:00Z
2014-11-01T00:00:00Z