Janina Luberichs

Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations

Sascha Fauser, Janina Luberichs, Dorothea Besch et al. · Biochemical and Biophysical Research Communications · 2002 · 66 citations

Neurodegenerative Diseases, Mendelian Disorder, Ophthalmology +11

Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy

Sascha Fauser, Beate Leo‐Kottler, Dorothea Besch et al. · Ophthalmic Genetics · 2002 · 31 citations

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 and spontaneous recovery

Beate Leo‐Kottler, Janina Luberichs, Dorothea Besch et al. · Graefe s Archive for Clinical and Experimental Ophthalmology · 2002 · 29 citations

Molecular Neuroscience, Mendelian Disorder, Ophthalmology +13

A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy

Janina Luberichs, Beate Leo‐Kottler, Dorothea Besch et al. · Graefe s Archive for Clinical and Experimental Ophthalmology · 2002 · 18 citations

Neurodegenerative Diseases, Mendelian Disorder, Ophthalmology +13