Familial dystonia and visual failure with striatal CT lucencies

Familial dystonia and visual failure with striatal CT lucencies

Item
http://www.wikidata.org/entity/Q33622206
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystoniaLeber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathyGenetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystoniaHereditary optic neuropathies.Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.Severe generalized dystonia due to primary putaminal degeneration: case report and review of the literature.Late onset familial dystonia: could mitochondrial deficits induce a diffuse lesioning process of the whole basal ganglia system?Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.Bilateral striatal necrosis, dystonia and optic atrophy in two siblingsA familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation.Familial dystonia and choreoathetosis in three generations associated with bilateral striatal necrosis.Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation.Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy
P2860

Familial dystonia and visual failure with striatal CT lucencies

Item
http://www.wikidata.org/entity/Q33622206
description
1986 nî lūn-bûn
@nan
1986 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1986 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1986年の論文
@ja
1986年論文
@yue
1986年論文
@zh-hant
1986年論文
@zh-hk
1986年論文
@zh-mo
1986年論文
@zh-tw
1986年论文
@wuu
name
Familial dystonia and visual failure with striatal CT lucencies
@ast
Familial dystonia and visual failure with striatal CT lucencies
@en
type
label
Familial dystonia and visual failure with striatal CT lucencies
@ast
Familial dystonia and visual failure with striatal CT lucencies
@en
prefLabel
Familial dystonia and visual failure with striatal CT lucencies
@ast
Familial dystonia and visual failure with striatal CT lucencies
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Familial dystonia and visual failure with striatal CT lucencies
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932