Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
about
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtypeA new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneityMutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegiaThe spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severityThe novel human MOST-1 (C8orf17) gene exhibits tissue specific expression, maps to chromosome 8q24.2, and is overexpressed/amplified in high grade cancers of the breast and prostate.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Hereditary spastic paraparesis: a review of new developments.Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13Positional candidate approach for the gene responsible for benign adult familial myoclonic epilepsy.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegiasVariable phenotype of Alzheimer's disease with spastic paraparesis.Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p.Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34
P2860
Q24531747-74A26B55-E805-4E75-8C8E-277A69AD3E2BQ24540152-6834D5C1-9D4E-4CDD-B36C-095965245F6FQ24680886-5AECB0A1-9810-492F-ADC3-F62D00E1698EQ27301370-0E18243A-B1C6-449C-89D1-879C2180E7B4Q28216435-3CF3C057-C48F-4265-B495-41651A3B8AEDQ33186570-64F2936C-39F0-4714-BB27-B7379DFF80A0Q33711126-DAC63A41-5684-488B-B25D-4775FB13082EQ33969651-58CFC2E9-C61E-42DF-959A-59E10094C736Q34108701-7607A224-77DB-4062-BAB7-2A3BDAB11ABBQ34145197-8E5E4980-E926-4EBC-92EC-68F755DAA3E3Q34145220-38288ADE-50D1-40FE-9C7F-E297FC60DEF2Q34154662-3C5DBC32-E53B-4261-86BC-542EA6A5F3BFQ34368117-9B23ABFA-5F19-4EE8-BB7B-AD5C0798AEE8Q34383503-2EA2D29E-4542-480A-9A06-04D7C68E4EB2Q35059321-8093532A-37C1-494A-A75B-F3DFA869220EQ36998026-B02D4E3B-6FCC-4915-9044-27D16016D42EQ43650936-32A0DF4E-76EA-4CC8-9ED9-9994E1D9D63FQ57243932-A95BC3FD-E4FE-4B23-BEB9-02FD1E548A01
P2860
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
description
1999 nî lūn-bûn
@nan
1999 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
@ast
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
@en
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
@nl
type
label
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
@ast
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
@en
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
@nl
prefLabel
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
@ast
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
@en
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
@nl
P2093
P2860
P356
P1476
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
@en
P2093
D Alvarado
J Williamson
P2860
P304
P356
10.1086/302258
P407
P577
1999-02-01T00:00:00Z