Results 271 to 280 of about 62,463 (295)

[A novel mutation of the type 1 optic atrophy(OPA1) gene in a Japanese family with OPA1].

Nippon Ganka Gakkai zasshi, 2002
To report a novel mutation of the type1 optic atrophy(OPA1) gene in a Japanese family with OPA1 and to describe the clinical features of this family.Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations.The proband and his ...
Satoko, Shimizu, Naoki, Mori, Mari, Kishi, Hirohisa, Sugata, Akiko, Tsuda, Nobue, Kubota   +5 more
openaire   +1 more source

Dysregulated mitophagy and mitochondrial transport in sensori-motor neuropathy due to “Dominant Optic Atrophy” plus with OPA1 (Optic Atrophy 1) mutations

Neuromuscular Disorders, 2015
C. Liao, A. Diot, N. Ashley, K. Morten, C. Fratter, I. Moroni, S. Bianchi, C. Lamperti, E. Dombi, S. Downes, K. Sitarz, P. Yu-Wai-Man, A. Simon, M. Reilly, T. Enver, F. Iborra, M. Votruba, H. Mortiboys, M. Zeviani, J. Poulton   +19 more
openaire   +1 more source

Prevalence and Associations of Nonglaucomatous Optic Nerve Atrophy in High Myopia

Ophthalmology, 2023
Mukharram M Bikbov, Ellina M Iakupova, Timur R Gilmanshin   +2 more
exaly  

Dominant optic atrophy: Culprit mitochondria in the optic nerve

Progress in Retinal and Eye Research, 2021
Guy Lenaers, Albert Neutzner, Sebastian Swirski   +2 more
exaly  

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

Molecular Therapy - Nucleic Acids, 2021
Christoph Jüschke, Thomas Klopstock, Claudia B Catarino   +2 more
exaly  

Demographics and etiologic characteristics of non-glaucomatous optic atrophy: a single-center cross-sectional study from Turkey

International Ophthalmology, 2022
Oğuzhan Kılıçarslan, Aslihan Yilmaz CEBİ, Bilge Batu Oto   +2 more
exaly  

Optical coherence tomography angiography in the multimodal assessment of the retinal posterior pole in autosomal dominant optic atrophy

Acta Ophthalmologica, 2022
Massimo Cesareo, Clarissa Giannini, Matteo Di Marino   +2 more
exaly  

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity

Ophthalmology, 2016
Isabelle Meunier, Vincent Daien, François Halloy   +2 more
exaly  

Nonglaucomatous Optic Atrophy

Neurologic Clinics, 2010
Karl C Golnik
exaly  

Continuing optic nerve atrophy following optic neuritis: a serial MRI study

Multiple Sclerosis Journal, 2002
D G Macmanus, Neil Scolding, Dh Miller
exaly