Results 281 to 290 of about 62,463 (295)

Hydrolytic Cleavage of Optic Atrophy 1 Drives the Pathogenesis of CMT2A Neuropathy Caused by Mfn2 Mutation

SSRN Electronic Journal, 2022
Yuanzhu Zhang, Daxin Pang, Lerong Ma, Ziru Wang, Chuang Gao, Lin Yang, Mengjing Li, Xiaochun Tang, Hongming Yuan, Hongsheng Ouyang   +9 more
openaire   +1 more source

Mitochondrial disorder with OPA1 mutation lacking optic atrophy

Mitochondrion, 2009
Margherita Milone, Brian R Younge, Shulin Zhang   +2 more
exaly  

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

Human Mutation, 2003
Olivier R Baris, Cecile Delettre, Patrizia Amati-Bonneau   +2 more
exaly  

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene

Ophthalmic Genetics, 2018
Jason H Peragallo, Stephanie Keller, Marjo S Van Der Knaap   +2 more
exaly  

An aetiological profile of optic atrophy

Acta Ophthalmologica, 2009
Vimla Menon
exaly  

[Eye motion impairment and optic nerve atrophy. A 1-year-old patient with vertical gaze paresis and bilateral optic nerve atrophy].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2005
H, Müller, F, Staubach, W A, Lagrèze
openaire   +1 more source

HISTOPATHOLOGY OF EYE, OPTIC NERVE AND BRAIN IN A CASE OF DOMINANT OPTIC ATROPHY

Acta Ophthalmologica, 1983
O A Jensen, L Klinken
exaly  

REPEATED APPLANATION TONOMETRY IN OPTIC ATROPHY

Acta Ophthalmologica, 1972
C E T Krakau, K Wilke
exaly  

Diabetes Mellitus and Optic Atrophy in Two Siblings: A Report on a New Association and a Review of the Literature

Diabetes Care, 1983
Romesh Khardori, Robert S Dow, Khardori Romesh   +2 more
exaly  

Optic atrophy and sensorineural hearing loss in a family caused by an R445HOPA1 mutation

American Journal of Medical Genetics, Part A, 2005
Kang Zhang, Jian Ge, Elias I Traboulsi
exaly