Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm
G Lenaers, C Beaulieu, M Charif, S Gerber, J Kaplan… - Brain, 2023 - academic.oup.com
Leber hereditary optic neuropathy (LHON) is a primary inherited neurodegenerative
disorder of the optic nerve. It has been ascribed to variants in the mitochondrial genome …
disorder of the optic nerve. It has been ascribed to variants in the mitochondrial genome …
Leber hereditary optic neuropathy: current perspectives
C Meyerson, G Van Stavern… - Clinical …, 2015 - Taylor & Francis
Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic
neuropathies causing bilateral central vision loss. The disorder results from point mutations …
neuropathies causing bilateral central vision loss. The disorder results from point mutations …
Leber hereditary optic neuropathy—new insights and old challenges
S Sundaramurthy, A SelvaKumar, J Ching… - Graefe's Archive for …, 2021 - Springer
Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA
(mtDNA) disorder with the majority of patients harboring one of three primary mtDNA point …
(mtDNA) disorder with the majority of patients harboring one of three primary mtDNA point …
Leber hereditary optic neuropathy—historical report in comparison with the current knowledge
A Piotrowska, M Korwin, E Bartnik, K Tońska - Gene, 2015 - Elsevier
Leber hereditary optic neuropathy (LHON) is a genetic, maternally inherited disease caused
by point mutations in the mitochondrial genome. LHON patients present with sudden …
by point mutations in the mitochondrial genome. LHON patients present with sudden …
Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m. 11778G> A and m. 14484T> C of the mitochondrial …
Leber's hereditary optic neuropathy (LHON) is an inherited mitochondrial disease that
usually leads to acute or subacute bilateral central vision loss. In 95% of cases, LHON is …
usually leads to acute or subacute bilateral central vision loss. In 95% of cases, LHON is …
Leber's hereditary optic neuropathy is multiorgan not mono-organ
J Finsterer, S Zarrouk-Mahjoub - Clinical ophthalmology, 2016 - Taylor & Francis
Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder
with bilateral loss of central vision primarily due to mitochondrial DNA (mtDNA) mutations in …
with bilateral loss of central vision primarily due to mitochondrial DNA (mtDNA) mutations in …
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
PF Chinnery, DT Brown, RM Andrews, R Singh-Kler… - Brain, 2001 - academic.oup.com
Leber's hereditary optic neuropathy (LHON) is a common cause of bilateral optic nerve
disease. The majority of LHON patients harbour one of three point mutations of the …
disease. The majority of LHON patients harbour one of three point mutations of the …
Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene …
B Leo-Kottler, J Luberichs, D Besch… - Graefe's Archive for …, 2002 - Springer
Background. Mitochondrial DNA mutations at nucleotide position (np) 3460 in the ND1
gene, np 11778 in the ND4 gene, and np 14484 in the ND6 gene are commonly considered …
gene, np 11778 in the ND4 gene, and np 14484 in the ND6 gene are commonly considered …
Leber's hereditary optic neuropathy with olivocerebellar degeneration due to G11778A and T3394C mutations in the mitochondrial DNA
K Nakaso, Y Adachi, E Fusayasu… - Journal of Clinical …, 2012 - synapse.koreamed.org
Background Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder with
optic nerve atrophy. Although there are no other associated neurological abnormalities in …
optic nerve atrophy. Although there are no other associated neurological abnormalities in …
Leber hereditary optic neuropathy: clinical and molecular genetic findings
K Huoponen - Neurogenetics, 2001 - Springer
Leber hereditary optic neuropathy (LHON) is a maternally inherited disease characterized
by acute or subacute painless central visual loss usually in young adults, predominantly in …
by acute or subacute painless central visual loss usually in young adults, predominantly in …