A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.
about
The critical role of membralin in postnatal motor neuron survival and diseaseSpastic paraplegia-linked phospholipase PAPLA1 is necessary for development, reproduction, and energy metabolism in Drosophila.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishA nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases.Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation.Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).
P2860
Q28585103-EB1BC125-388B-4AFF-B948-6A75400C522DQ33577245-A9AF538B-6D7C-4B60-9FEB-CBBC35E0FF9DQ33711126-1DD20249-8A23-4803-ADB9-DD03957C1533Q34152696-726DC296-2E48-44CB-A6AB-3BA573904B46Q35549382-10426028-07FB-47AF-BAC0-CA5D331ED099Q36451472-A8A70A90-3ECF-43FE-8436-2749BD99A3D2Q38857876-4A38F89B-0C8D-4D42-8309-452847BD8AC9Q42562466-A5BED112-3C1E-44A7-BFD4-9DE9C9D98239Q48081283-0FBE4EC6-AC8B-425D-BDC7-33F7606A2893Q48299744-5A243A8B-8C16-42C6-9A07-A0B8779CFAABQ48958669-7F23824A-315A-4824-9D97-DBDF100619C7
P2860
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年學術文章
@zh-hant
name
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.
@en
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.
@nl
type
label
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.
@en
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.
@nl
prefLabel
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.
@en
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.
@nl
P2093
P1433
P1476
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.
@en
P2093
Al-Barwany H
Al-Gazali LI
Al-Kindi M
Al-Yahyaee S
De Jonghe P
De Vriendt E
P304
P356
10.1212/01.WNL.0000208501.52849.DD
P407
P50
P577
2006-04-01T00:00:00Z