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Club Jules Gonin
Letter to the Editor
Makoto Nakamura and Yozo Miyake
Journal Article
A negative electroretinogram (ERG) in a case of probable multiple system atrophy (MSA)
Claire S. Barnes, Jiong Yan and George R. Wilmot
Documenta Ophthalmologica, 2009, Volume 118, Number 3, Pages 247-256
A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation
M. Liguori, A. La Russa, I. Manna, V. Andreoli and M. Caracciolo, et al.
Journal of Neurology, 2008, Volume 255, Number 1, Pages 127-129
A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy
Yuriko Ban, Yusuke Yoshida, Satoshi Kawasaki and Chikako Mochida
Graefe's Archive for Clinical and Experimental Ophthalmology, 2006, Volume 245, Number 10, Pages 1581-1583
Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy
Nico Fuhrmann, Simone Schimpf, York Kamenisch, Beate Leo-Kottler and Christiane Alexander, et al.
Molecular Neurodegeneration, 2010, Volume 5, Number 1, 25
A review of primary hereditary optic neuropathies
M. Votruba, S. Aijaz and A. T. Moore
Journal of Inherited Metabolic Disease, 2003, Volume 26, Numbers 2-3, Pages 209-227
Book Chapter
Inherited Optic Neuropathies
Marcela Votruba
Essentials in Ophthalmology, 2008, Pediatric Ophthalmology, Neuro-Ophthalmology, Genetics, I, Pages 51-67
OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy
Tetsuya Hamahata, Takuro Fujimaki, Keiko Fujiki, Ai Miyazaki and Atsushi Mizota, et al.
Japanese Journal of Ophthalmology, 2012, Volume 56, Number 1, Pages 91-97
OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background
Denis Pierron, Marc Ferré, Christophe Rocher, Arnaud Chevrollier and Pascal Murail, et al.
BMC Medical Genetics, 2009, Volume 10, Number 1, 70
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene
Simone Schimpf, Simone Schaich and Bernd Wissinger
Human Genetics, 2005, Volume 118, Number 6, Pages 767-771
Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
Gitte J Almind, Karen Grønskov, Dan Milea, Michael Larsen and Karen Brøndum-Nielsen, et al.
BMC Medical Genetics, 2011, Volume 12, Number 1, 49
Keywords Optic atrophy - Negative electroretinogram - OPA1 gene - Mutation - Molecular biology
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