Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
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Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case reportThe nuclear pore complex protein ALADIN is mislocalized in triple A syndromeProteomic analysis of the mammalian nuclear pore complexMyoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutationGenotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005A novel AAAS gene mutation (p.R194X) in a patient with triple A syndromeThe triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complexTriple A syndrome mimicking ALS.Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanismRecent advances in amyotrophic lateral sclerosis research.Neurological features in adult Triple-A (Allgrove) syndrome.Allgrove (Triple A) Syndrome: A Case Report from the Kashmir Valley.Triple A (Allgrove) syndrome: an unusual association with syringomyelia.New insights into the molecular basis of the triple A syndrome.Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome.Triple A syndrome in Japan.Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.Clinical and genetic characterisation of a series of patients with triple A syndrome.AAA Syndrome, Case Report of a Rare Disease.Familial glucocorticoid deficiency syndromes
P2860
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P2860
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
description
2002 nî lūn-bûn
@nan
2002 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մարտին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
@ast
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
@en
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
@nl
type
label
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
@ast
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
@en
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
@nl
prefLabel
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
@ast
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
@en
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
@nl
P2093
P50
P356
P1433
P1476
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
@en
P2093
P356
10.1212/WNL.58.6.962
P407
P577
2002-03-26T00:00:00Z