Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.
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NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Expanded phenotype in a patient with spastic paraplegia 7.Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.The Enigmatic Role of GBA2 in Controlling Locomotor Function.Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families.[Genetics of tremor].The central role of DNA damage and repair in CAG repeat diseases.[Ataxias and hereditary spastic paraplegias].Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options
P2860
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P2860
Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Overcoming the divide between ...... enotypes, genes, and pathways.
@en
Overcoming the divide between ...... enotypes, genes, and pathways.
@nl
type
label
Overcoming the divide between ...... enotypes, genes, and pathways.
@en
Overcoming the divide between ...... enotypes, genes, and pathways.
@nl
prefLabel
Overcoming the divide between ...... enotypes, genes, and pathways.
@en
Overcoming the divide between ...... enotypes, genes, and pathways.
@nl
P2860
P356
P1433
P1476
Overcoming the divide between ...... henotypes, genes, and pathways
@en
P2093
Matthis Synofzik
Rebecca Schüle
P2860
P304
P356
10.1002/MDS.26944
P407
P577
2017-02-14T00:00:00Z