about
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneityProtrudin serves as an adaptor molecule that connects KIF5 and its cargoes in vesicular transport during process formationMutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegiaUnique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangementsMapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?Mitochondrial disorders. A diagnostic challenge in clinical chemistry.Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegiasMitochondrial protein quality control in health and disease.Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.Further evidence for a fourth gene causing X-linked pure spastic paraplegia.Translation and validation into Brazilian Portuguese of the Spastic Paraplegia Rating Scale (SPRS).Identification of a novel SPG4 tandem base substitution in a Chinese hereditary spastic paraplegia family.
P2860
Q24540152-751976F0-558A-4B78-AA4B-69F44AE3FFECQ28115614-C6E0FD5D-BDCC-426B-BC4F-D5E2D2999A0DQ28215111-ACBF0B7F-EE00-44EB-A4DF-372E09B0E3A8Q33538877-C09B9F1A-A881-4434-9A13-9F05F262CBFEQ33680138-BD5FA645-AEBF-4763-8E12-38A5E854534AQ33681293-46BD854D-C440-40B4-A028-FD15834F88EAQ33793717-44ED18EB-EAE2-40C2-B1A2-5E1E1CD7E561Q34388954-6FC4EF6B-F43E-409F-A496-A44BA299489CQ35059321-A36E3F1B-4953-493C-A096-5CB2B5A96034Q37686252-896DE7F9-A0A5-4628-9F8C-58E38F4DBECFQ38023325-FD830A8A-39D4-4AF1-A890-F0CDA7116226Q38283979-7A500826-1565-462B-B265-03C0FC845F75Q38857876-CAF35CC3-3C93-4D36-98B7-119328571E24Q43534672-1C60BFCF-6A4E-408E-A1BE-B2B71F28A838Q44124711-AD9611B1-B031-43FC-9CEA-B7DF3CC83440Q47298744-8A1C06DE-D8B8-4720-A178-04555E081FD8Q53636782-2E0DB441-258C-466A-B1FF-D5677FF50172
P2860
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Pure hereditary spastic paraplegia.
@ast
Pure hereditary spastic paraplegia.
@en
type
label
Pure hereditary spastic paraplegia.
@ast
Pure hereditary spastic paraplegia.
@en
prefLabel
Pure hereditary spastic paraplegia.
@ast
Pure hereditary spastic paraplegia.
@en
P2860
P356
P1476
Pure hereditary spastic paraplegia
@en
P2093
P2860
P304
P356
10.1136/JMG.34.6.499
P407
P50
P577
1997-06-01T00:00:00Z