Results 161 to 170 of about 1,459,190 (233)

Autosomal dominant optic atrophy and peripheral neuropathy [PDF]

, 2020
openaire   +1 more source

Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants. [PDF]

Ophthalmic Genet, 2018
Li H, Jones EM, Li H, Yang L, Sun Z, Yuan Z, Chen R, Dong F, Sui R.   +8 more
europepmc   +1 more source

Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation. [PDF]

Front Cell Dev Biol, 2018
Diot A, Agnew T, Sanderson J, Liao C, Carver J, Neves RPD, Gupta R, Guo Y, Waters C, Seto S, Daniels MJ, Dombi E, Lodge T, Morten K, Williams SA, Enver T, Iborra FJ, Votruba M, Poulton J.   +18 more
europepmc   +1 more source

IF204a Temporal Cupping with Dominant Hereditary Optic Atrophy

Right eye with temporal pallor and shallow cupping. Pair with IF2_4b. 1960. Anatomy: Optic disc. Pathology: Dominant hereditary optic atrophy. Disease/ Diagnosis: Dominant hereditary optic atrophy.
William F. Hoyt, MD
core  

IF202b Temporal Cupping with Dominant Hereditary Optic Atrophy

Left eye. Teenage boy. Dominant hereditary optic atrophy (Kjer). Shows temporal pallor only. Shallow temporal cup. Pair with IF2_2a. 1975. Anatomy: Optic disc. Pathology: Dominant hereditary optic atrophy.
William F. Hoyt, MD
core  

IF202a Temporal Cupping with Dominant Hereditary Optic Atrophy

Right eye. Teenage boy. Dominant hereditary optic atrophy (Kjer). Shows pallor and shallow cupping temporally. Pair with IF2_2b. 1975. Anatomy: Optic disc. Pathology: Dominant hereditary optic atrophy.
William F. Hoyt, MD
core  

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay. [PDF]

PLoS One, 2017
Ścieżyńska A, Ruszkowska E, Szulborski K, Rydz K, Wierzbowska J, Kosińska J, Rękas M, Płoski R, Szaflik JP, Ołdak M.   +9 more
europepmc   +1 more source

IF201a Temporal Cupping with Dominant Hereditary Optic Atrophy

1969. Dominant hereditary optic atrophy (Kjer) Pair with IF2_1b. Right eye. Boy with reduced central acuity since childhood. Discs are pale temporally and the temporal nerve fiber layer is thin. Anatomy: Optic disc.
William F. Hoyt, MD
core  

MicroRNA-181a/b modulation as possible therapeutic strategy for Autosomal Dominant Optic Atrophy

Biochimica et Biophysica Acta
Rosa Saurino, Marta Molinari, Filomena Massa, Elena Marrocco, Mariagrazia Volpe, Claudia Crina, Marcela Votruba, A. Indrieri   +7 more
semanticscholar   +1 more source

IF201b Temporal Cupping with Dominant Hereditary Optic Atrophy

1969. Dominant hereditary optic atrophy (Kjer) Pair with IF2_1a. Left eye. Boy with reduced central acuity since childhood. and the temporal nerve fiber layer is thin. Anatomy: Optic disc. Pathology: Dominant hereditary optic atrophy. Disease/ Diagnosis:
William F. Hoyt, MD
core