Results 61 to 70 of about 9,987 (182)
, 2018 Mean PP differential sensitivity values measured by MP1 comparing Autosomal-Dominant Optic Atrophy (ADOA) and Control Subjects.
Roberto Pietro Sorge (3897154) +10 more
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OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance [PDF]
Human Molecular Genetics, 2001 We and others have shown recently that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein cause autosomal dominant optic atrophy (ADOA) linked to chromosome 3q28-q29. Here we report screening of the OPA1 gene in a sample of 78 independent ADOA families.
U E, Pesch +8 more
openaire +2 more sources
dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia
, 2023 Spastic paraplegia is a neurodegenerative disorder characterized by progressive leg weakness and spasticity due to degeneration of corticospinal axons. SPG7 encodes paraplegin, and pathogenic variants in the gene cause hereditary spastic paraplegia as an
Yuri Seo +3 more
core +2 more sources
Visual Prognosis in Autosomal Dominant Optic Atrophy (Kjer Type)
American Journal of Ophthalmology, 1993 We examined 25 patients from three pedigrees with dominant optic atrophy (Kjer type). Follow-up on 20 patients ranged from five to 40 years (mean, 16 years; median, 13 years). Visual acuity ranged from 20/20 (in one 58-year-old man with an affected father and three affected children) to 20/400. The median initial visual acuity was 20/60, and the median
D, Eliott, E I, Traboulsi, I H, Maumenee
openaire +2 more sources
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy [PDF]
Neurology Genetics, 2019 To characterize the phenotype in individuals with OPA3-related autosomal dominant optic atrophy and cataract (ADOAC) and peripheral neuropathy (PN).Two probands with multiple affected relatives and one sporadic case were referred for evaluation of a PN. Their phenotype was determined by clinical ± neurophysiological assessment.
Horga A. +18 more
openaire +6 more sources
Orphanet Journal of Rare Diseases, 2017 Background Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations.
Alessia Nasca +21 more
doaj +1 more source
Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production. [PDF]
PLoS ONE, 2009 Optic atrophy 1 (OPA1) is a dynamin-like GTPase located in the inner mitochondrial membrane and mutations in OPA1 are associated with autosomal dominant optic atrophy (DOA).
Sha Tang +4 more
doaj +1 more source
Heterozygous mutation of Drosophila Opa1 causes the development of multiple organ abnormalities in an age-dependent and organ-specific manner. [PDF]
PLoS ONE, 2009 Optic Atrophy 1 (OPA1) is a ubiquitously expressed dynamin-like GTPase in the inner mitochondrial membrane. It plays important roles in mitochondrial fusion, apoptosis, reactive oxygen species (ROS) and ATP production.
Parvin Shahrestani +6 more
doaj +1 more source
Walsh & Hoyt: Dominant Optic Atrophy
, 2005 Autosomal dominant optic atrophy, type Kjer (McKusick no. 165500, gene symbol OPA1) (359), is believed to be the most common of the hereditary optic neuropathies. The estimated disease prevalence is 150,000, or as high as 110,000 in Denmark (360,361)
Nancy J. Newman, MD
core +1 more source
BMC Medical Genetics, 2012 Background Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark. Methods Index patients from 93 unrelated ADOA families were assessed for a common Danish founder mutation (c.2826_2836delinsGGATGCTCCA) inOPA1 ...
Almind Gitte J +7 more
doaj +1 more source