Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.
about
Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.Simple tandem DNA repeats and human genetic diseaseA transcript map for the 2.8-Mb region containing the multiple endocrine neoplasia type 1 locusA 3-Mb contig from D11S987 to MLK3, a gene-rich region in 11q13Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1Isolation and characterization of novel CAG repeat containing genes expressed in human brainAutosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?Speech characteristics associated with three genotypes of ataxiaLongitudinal cerebral blood flow changes during speech in hereditary ataxia.Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1.Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestryDiagnosis of inherited metabolic disorders affecting the nervous systemRelations between genotype and phenotype in German patients with the Machado-Joseph disease mutationAutosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5.The molecular biology of the autosomal-dominant cerebellar ataxias.High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal allelesEFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts.Brain pathology of spinocerebellar ataxias.Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutationSpectrin mutations cause spinocerebellar ataxia type 5.Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2.State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis.Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease.Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.Spinocerebellar ataxia type 6: genotype and phenotype in German kindredsA human β-III-spectrin spinocerebellar ataxia type 5 mutation causes high-affinity F-actin binding.Clinical aspects of hereditary ataxias.The inherited ataxias and the new genetics.Brain MRI, lumbar CSF monoamine concentrations, and clinical descriptors of patients with spinocerebellar ataxia mutations.Genetic and molecular aspects of spinocerebellar ataxias.The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.Spinocerebellar ataxia: relationship between phenotype and genotype - a review.Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.Clinical aspects of CAG repeat diseases.The neuropathology of CAG repeat diseases: review and update of genetic and molecular features.
P2860
Q24540127-5ADC0D97-9C11-4067-9E7F-9C45FC967EF1Q24561717-6AE1FDF8-4158-4E21-9D44-7E76D5F802ACQ24628248-B121EC43-C5A1-4AA8-B027-0E426EDC15F0Q24628598-F00EE5E2-F140-4490-AB62-81A919080141Q24675962-CEBCF0E4-E12D-440F-8A0D-65F368B1F18FQ24678584-B04CF859-C4AE-4130-803C-C329820ED4C7Q28138069-0ABB102B-82AE-42D5-AF9C-CA7F8D3DAB37Q28256940-FA967921-5D19-4A37-9100-3EE70196836EQ30466187-39DB3847-9614-4F22-BF5E-31917900EFD8Q30474912-D769A051-C0BC-4CB8-A7CB-349DB841F7ECQ30495698-B5CE5BAB-7D23-4E05-B0C5-BE3078ADB46CQ33682234-67B25A3E-65DA-4A1B-AE01-DFFC0464F7C0Q33734674-369166E7-296A-4A96-ABA7-E04FA7D0713FQ33735577-5287143F-FA95-4301-879C-8444C6A02B99Q33868903-4B423BC0-1989-4348-9341-73271E0678DFQ33935986-1C28B570-338F-44A8-8B35-B100A56795ECQ33992649-F046B84C-3F2E-4B17-B9B8-EC6604743E2AQ34145392-C0140A35-D00D-42E1-AEF3-C06FE62384CBQ34291485-71E400D6-4E1A-400F-A829-E14405240BEAQ34298978-04A50106-B992-4EFF-977D-927D2FD0427AQ34323333-26E6C9C9-67F5-43CB-9E53-3451972C88B1Q34389733-2496EACB-FA8B-4A4F-93FD-816CE230BF47Q34486967-BB3E68FA-6A34-4E98-8565-509C5949107AQ34492842-D64CD825-49B3-4875-93E6-525E9BAAA099Q35041284-0E05E74C-932B-4828-BF9D-AB6E79DD4D7AQ35642974-3DEF5893-7D88-4C4A-B7EA-D3BE76720A31Q35643575-29C9A012-EE8F-4203-98AC-1C8AF5143847Q35643594-96E6A796-AFD5-4ECE-A756-D638F656E13CQ35644427-57BDB83B-6E5E-48A0-ADE2-706D4BE7A40DQ36317712-A79C9B9D-4979-4D52-B542-988F4F1B194AQ36587721-E6EF7AE9-F127-4804-91E0-12E1DF57736EQ36672749-453BC25A-F7FE-4D93-8459-F8BC3D6AE579Q36897398-3F6A0253-8B30-47BA-B302-A5B689C45F6CQ36899909-9AE0B17E-5E78-442F-94B4-BDE84F4EA6E8Q37196137-31E70B9F-29A3-43C2-A57B-10E90DF70B13Q38241166-013CB6A8-1AC1-4CB7-99FE-0D621C85D2AFQ38843338-BDC06072-D818-48B6-99CA-E1708ED97799Q38915057-189A917B-57BE-4D09-AD1A-9DB083809942Q41527046-D8DAE0A6-601B-4458-BC10-D81BEFD65586Q41527060-B6A57649-9D8A-437B-AB0E-FA646E96D771
P2860
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.
description
1994 nî lūn-bûn
@nan
1994 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Spinocerebellar ataxia type 5 ...... Lincoln maps to chromosome 11.
@ast
Spinocerebellar ataxia type 5 ...... Lincoln maps to chromosome 11.
@en
Spinocerebellar ataxia type 5 ...... Lincoln maps to chromosome 11.
@nl
type
label
Spinocerebellar ataxia type 5 ...... Lincoln maps to chromosome 11.
@ast
Spinocerebellar ataxia type 5 ...... Lincoln maps to chromosome 11.
@en
Spinocerebellar ataxia type 5 ...... Lincoln maps to chromosome 11.
@nl
prefLabel
Spinocerebellar ataxia type 5 ...... Lincoln maps to chromosome 11.
@ast
Spinocerebellar ataxia type 5 ...... Lincoln maps to chromosome 11.
@en
Spinocerebellar ataxia type 5 ...... Lincoln maps to chromosome 11.
@nl
P2093
P2860
P356
P1433
P1476
Spinocerebellar ataxia type 5 ...... Lincoln maps to chromosome 11.
@en
P2093
D M Livingston
J K Lundgren
P2860
P2888
P304
P356
10.1038/NG1194-280
P407
P577
1994-11-01T00:00:00Z