A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia.
about
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi JewsFunction Over Form: Modeling Groups of Inherited Neurological Conditions in ZebrafishOPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondriaA model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.The 3-methylglutaconic acidurias: what's new?Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathiesCosteff optic atrophy syndrome: new clinical case and novel molecular findings.Multiple presentation of mitochondrial disordersInherited mitochondrial optic neuropathies.Treatment of hereditary optic neuropathies.Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.Complicated hereditary spastic paraparesis with cerebral white matter lesions.Organic acidurias and related abnormalities.'Behr syndrome' with OPA1 compound heterozygote mutations.3-Methylglutaconic aciduria in "optic atrophy plus".Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.[Hereditary optic atrophies].Troyer Syndrome: report of the first "non-Amish" sibship and review.Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.X-linked spastic paraplegia.3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4').
P2860
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P2860
A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia.
description
1989 nî lūn-bûn
@nan
1989 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
A familial syndrome of infanti ...... order, and spastic paraplegia.
@ast
A familial syndrome of infanti ...... order, and spastic paraplegia.
@en
A familial syndrome of infanti ...... order, and spastic paraplegia.
@nl
type
label
A familial syndrome of infanti ...... order, and spastic paraplegia.
@ast
A familial syndrome of infanti ...... order, and spastic paraplegia.
@en
A familial syndrome of infanti ...... order, and spastic paraplegia.
@nl
prefLabel
A familial syndrome of infanti ...... order, and spastic paraplegia.
@ast
A familial syndrome of infanti ...... order, and spastic paraplegia.
@en
A familial syndrome of infanti ...... order, and spastic paraplegia.
@nl
P2093
P356
P1433
P1476
A familial syndrome of infanti ...... order, and spastic paraplegia.
@en
P2093
P304
P356
10.1212/WNL.39.4.595
P407
P577
1989-04-01T00:00:00Z