Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy
about
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive declineAxonal neuropathy with neuromyotonia: there is a HINT.Lack of neuropathy-related phenotypes in hint1 knockout mice.MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia.HINT1 in Neuropsychiatric Diseases: A Potential Neuroplastic Mediator.Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.
P2860
Q21146677-541DDCC2-C925-4D1D-BDC7-D5EB2D76E50BQ30239953-1527D751-D5D7-4E6D-B81B-3B65F132812EQ33901811-A71E636A-9D43-4AE4-B381-A23E2CF06650Q37073802-9F594657-F010-431C-A67F-5C294851FDAAQ40852459-11C87FC0-1ECA-4C93-84A0-20AD5EC66D32Q47204896-38FFDA64-AD7C-45DF-A835-FB3EA5128498Q55059210-127C61BE-1089-412B-BE7C-00BEFDE279E4
P2860
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy
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2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
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Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy
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Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy
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type
label
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy
@ast
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy
@en
prefLabel
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy
@ast
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy
@en
P2093
P2860
P50
P356
P1476
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy
@en
P2093
Gert Matthijs
Peter De Jonghe
Valérie Race
P2860
P2888
P304
P356
10.1038/EJHG.2013.231
P577
2013-10-09T00:00:00Z