Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
about
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.The use of next-generation sequencing in movement disordersNext-generation sequencing for mitochondrial disordersApplication of exome sequencing in the search for genetic causes of rare disorders of copper metabolism.Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
P2860
Q33595620-192BEABA-A48E-4EEA-A61C-C5739981AFE4Q35955394-B0350477-7121-4BFB-B0A4-00019CFE83C1Q37686243-0C1A28AB-6E6B-470F-ADBE-0A3B7D69E837Q38007323-A071CC3F-D2B5-4215-A9B5-6DAC5170A6C4Q39010673-8EA98D6D-D385-4098-9E6C-DD9979C53A15Q48302894-3B00F77F-C827-433E-9F5E-A5ED14421607Q48788624-6C0D0C09-E5AA-4CC4-BA46-AEAEE1CCD9A4
P2860
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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name
Exome sequencing identifies GC ...... ly-onset generalized dystonia.
@en
Exome sequencing identifies GCDH
@nl
type
label
Exome sequencing identifies GC ...... ly-onset generalized dystonia.
@en
Exome sequencing identifies GCDH
@nl
prefLabel
Exome sequencing identifies GC ...... ly-onset generalized dystonia.
@en
Exome sequencing identifies GCDH
@nl
P2093
P2860
P50
P1433
P1476
Exome sequencing identifies GC ...... ly-onset generalized dystonia.
@en
P2093
Adolfo López de Munain
Ana Gorostidi
Javier Ruiz-Martínez
Jose Felix Marti-Masso
Seungtai Yoon
Vladimir Makarov
P2860
P2888
P304
P356
10.1007/S00439-011-1086-6
P577
2011-09-13T00:00:00Z