Add to ORKGDominant optic atrophy (DOA) is the most common hereditary optic neuropathy, and known mutations in OPA1 account for 40-60% of cases. Previous studies investigating clinical features in DOA patients with OPA1 mutations have been limited to a few mutations and few include OPA1 copy number variant (CNV) analyses or mitochondrial genomic analyses. We hypothesized that some clinical presentations depend upon both OPA1 status and the background mitochondrial haplogroup
PURPOSE. To characterize the spectrum of mutations in the OPA1 gene in a large international panel o...
Aim To review the molecular genetic basis of primary inherited optic neuropathies. Methods Medlin...
Abstract Background Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy ...
Dominant optic atrophy (DOA) is the most common hereditary optic neuropathy, and known mutations in ...
Dominant optic atrophy (DOA) is the most common hereditary optic neuropathy. The most common form of...
Abstract Background Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic at...
International audienceThe OPA1 gene, encoding a dynamin-like mitochondrial GTPase, is involved in au...
Additional neurological features have recently been described in seven families transmitting pathoge...
Purpose Inherited optic neuropathy is genetically heterogeneous, and genetic testing has an importan...
Additional neurological features have recently been described in seven families transmitting pathoge...
Dominant optic atrophy (DOA) is genetically heterogeneous and pathogenic mutations have been identif...
Background:Fifty to 60% of patients with dominant optic atrophy (DOA) have mutations of the OPA1 gen...
Inherited optic neuropathies are a significant cause of childhood and adult blindness and dominant o...
Autosomal dominant optic atrophy (DOA) is the most common inherited optic nerve disorder and about 6...
International audienceBACKGROUND: Leber's hereditary optic neuropathy (LHON) and autosomal dominant ...
PURPOSE. To characterize the spectrum of mutations in the OPA1 gene in a large international panel o...
Aim To review the molecular genetic basis of primary inherited optic neuropathies. Methods Medlin...
Abstract Background Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy ...
Dominant optic atrophy (DOA) is the most common hereditary optic neuropathy, and known mutations in ...
Dominant optic atrophy (DOA) is the most common hereditary optic neuropathy. The most common form of...
Abstract Background Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic at...
International audienceThe OPA1 gene, encoding a dynamin-like mitochondrial GTPase, is involved in au...
Additional neurological features have recently been described in seven families transmitting pathoge...
Purpose Inherited optic neuropathy is genetically heterogeneous, and genetic testing has an importan...
Additional neurological features have recently been described in seven families transmitting pathoge...
Dominant optic atrophy (DOA) is genetically heterogeneous and pathogenic mutations have been identif...
Background:Fifty to 60% of patients with dominant optic atrophy (DOA) have mutations of the OPA1 gen...
Inherited optic neuropathies are a significant cause of childhood and adult blindness and dominant o...
Autosomal dominant optic atrophy (DOA) is the most common inherited optic nerve disorder and about 6...
International audienceBACKGROUND: Leber's hereditary optic neuropathy (LHON) and autosomal dominant ...
PURPOSE. To characterize the spectrum of mutations in the OPA1 gene in a large international panel o...
Aim To review the molecular genetic basis of primary inherited optic neuropathies. Methods Medlin...
Abstract Background Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy ...