Mitochondrial ND-I mutation in Leber hereditary optic neuropathy

Sequence analysis of Hungarian LHON patients not carrying the common primary mutations.

Journal of inherited metabolic disease·2002

Low mutational burden of individual acquired mitochondrial DNA mutations in brain.

Genomics·2001

Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population.

Eye (London, England)·2001

Mitochondrial dysfunction and neuromuscular disease.

Muscle & nerve·2001

Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease.

Neurology·2000

Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation.

Neurology·1999

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

American journal of human genetics·2026

Cell villages and Dirichlet modeling map human cell fitness genetics.

American journal of human genetics·2026

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

American journal of human genetics·2026

Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.

American journal of human genetics·2026

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures.

American journal of human genetics·2026

Additive value of polygenic risk and family history for coronary heart disease risk stratification in two diverse US cohorts.

American journal of human genetics·2026

Intraocular pressure and optic disc cupping in school-aged children: An epidemiological study in Taiwan.

Taiwan journal of ophthalmology·2026

Clinical and Functional Outcomes Following MOWHTO for Combined Tibial and Femoral Deformities in Varus Knees: A Retrospective Cohort Study.

The archives of bone and joint surgery·2026

Intracranial abscess and otitis interna treated by temporal burr-hole craniotomy and ventral bulla osteotomy in a Maine coon cat.

The Canadian veterinary journal = La revue veterinaire canadienne·2026

Coexistence of Neuromyelitis Optica Spectrum Disorder and Proliferative Lupus Nephritis: A Rare Case Report.

The Journal of the Association of Physicians of India·2026

Progressive mitochondrial and autophagic dysfunction during RGC development driven by a LHON-associated mitochondrial tRNAThr mutation.

Cellular signalling·2026

Systematic review of Leber's hereditary optic neuropathy - Clinical diagnosis, genetics overview and current concepts of treatment.

Indian journal of ophthalmology·2026

Related Experiment Videos

Mitochondrial ND-I mutation in Leber hereditary optic neuropathy

Related Concept Videos

Sequence analysis of Hungarian LHON patients not carrying the common primary mutations.

Low mutational burden of individual acquired mitochondrial DNA mutations in brain.

Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population.

Mitochondrial dysfunction and neuromuscular disease.

Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease.

Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Cell villages and Dirichlet modeling map human cell fitness genetics.

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures.

Additive value of polygenic risk and family history for coronary heart disease risk stratification in two diverse US cohorts.

Intraocular pressure and optic disc cupping in school-aged children: An epidemiological study in Taiwan.

Clinical and Functional Outcomes Following MOWHTO for Combined Tibial and Femoral Deformities in Varus Knees: A Retrospective Cohort Study.

Intracranial abscess and otitis interna treated by temporal burr-hole craniotomy and ventral bulla osteotomy in a Maine coon cat.

Coexistence of Neuromyelitis Optica Spectrum Disorder and Proliferative Lupus Nephritis: A Rare Case Report.

Progressive mitochondrial and autophagic dysfunction during RGC development driven by a LHON-associated mitochondrial tRNAThr mutation.

Systematic review of Leber's hereditary optic neuropathy - Clinical diagnosis, genetics overview and current concepts of treatment.

Related Experiment Videos

Mitochondrial ND-I mutation in Leber hereditary optic neuropathy

Related Concept Videos

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