Results 211 to 220 of about 1,452,519 (228)

Autosomal Dominant Hereditary Optic Neuropathy (ADOA): A Review of the Genetics and Clinical Manifestations of ADOA and ADOA+

Seminars in Ophthalmology, 2013
S Lessell
exaly  

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy

Mitochondrion, 2019
Julia Han, Kathryn Osann, Virginia Kimonis   +2 more
exaly  

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy†‡

Human Mutation, 2003
Shehla Mohammed, Dominique Bonneau, Carmen Ayuso   +2 more
exaly  

Reduction of Inner Retinal Thickness in Patients with Autosomal Dominant Optic Atrophy Associated with OPA1 Mutations

Investigative Ophthalmology and Visual Science, 2007
Yasuki Ito, Hiroshi Yatsuya, Makoto Nakamura   +2 more
exaly  

[Hereditary optic atrophies. Study of a family with dominant autosomal optic atrophy].

Revista clinica espanola, 1982
M, Sebastián de Erice, J, Romero López, J, Navarro Esteban, F, Jiménez, L, Soto Faure   +4 more
openaire   +1 more source

Electrophysiological and Histologic Assessment of Retinal Ganglion Cell Fate in a Mouse Model for OPA1-Associated Autosomal Dominant Optic Atrophy

Investigative Ophthalmology and Visual Science, 2010
Bernd Wissinger, Marcel V. Alavi, Sven Schnichels   +2 more
exaly  

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies

American Journal of Medical Genetics, Part A, 1995
Clifford E Kashtan, William B. Dobyns, Mary Ella Pierpont   +2 more
exaly  

A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy

Journal of Neurology, 2005
Gian Nicola Gallus, Alessandra Rufa, Antonio Federico   +2 more
exaly  

Optic Atrophy, Autosomal Dominant, Kjer Type

2012
openaire   +1 more source

Reduction of Oscillatory Potentials and Photopic Negative Response in Patients with Autosomal Dominant Optic Atrophy with OPA1 Mutations

Investigative Ophthalmology and Visual Science, 2007
Makoto Nakamura, Hiroko Terasaki
exaly