相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Multi-system neurological disease is common in patients with OPA1 mutations
P. Yu-Wai-Man et al.
BRAIN (2010)
Congenital cataracts in two siblings with Wolfram Syndrome
Rebecca B. Mets et al.
OPHTHALMIC GENETICS (2010)
OPA1-associated disorders: Phenotypes and pathophysiology
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INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2009)
RSK Is a Principal Effector of the RAS-ERK Pathway for Eliciting a Coordinate Promotile/Invasive Gene Program and Phenotype in Epithelial Cells
Ulrik Doehn et al.
MOLECULAR CELL (2009)
A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart
Kathleen S. Arnos et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
Patrizia Amati-Bonneau et al.
BRAIN (2008)
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene
R. Valero et al.
DIABETIC MEDICINE (2008)
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese
Hisakuni Fukuoka et al.
JOURNAL OF HUMAN GENETICS (2007)
Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts
Cathryn S. Mellersh et al.
VETERINARY OPHTHALMOLOGY (2006)
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
H Eiberg et al.
JOURNAL OF MEDICAL GENETICS (2006)
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified
L Hansen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness
P Amati-Bonneau et al.
ANNALS OF NEUROLOGY (2005)
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation
CM Li et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Dominant optic atrophy:: correlation between clinical and molecular genetic studies
A Puomila et al.
ACTA OPHTHALMOLOGICA SCANDINAVICA (2005)
Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia:: A syndrome caused by a missense mutation in OPA1
M Payne et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2004)
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene
P Amati-Bonneau et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2003)
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
K Cryns et al.
HUMAN MUTATION (2003)
Wolfram syndrome:: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product
S Hofmann et al.
HUMAN MOLECULAR GENETICS (2003)
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands
A Pandya et al.
GENETICS IN MEDICINE (2003)
A novel mutation in the OPA1Gene in a Japanese patient with optic atrophy
S Shimizu et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2003)
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1
TL Young et al.
HUMAN MOLECULAR GENETICS (2001)
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
IN Bespalova et al.
HUMAN MOLECULAR GENETICS (2001)
Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees
M Gomez-Zaera et al.
MOLECULAR GENETICS AND METABOLISM (2001)
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