8 results for author:"Leo-Kottler B." in Literature citations
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| Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. Achilli A., Iommarini L., Olivieri A., Pala M., Hooshiar Kashani B., Reynier P., La Morgia C., Valentino M.L., Liguori R., Pizza F. et al. PLoS ONE 7:e42242-e42242(2012) · UniProtKB (45) |
| Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy. Fuhrmann N., Alavi M.V., Bitoun P., Woernle S., Auburger G., Leo-Kottler B., Yu-Wai-Man P., Chinnery P., Wissinger B. J. Med. Genet. 46:136-144(2009) · Mapped (10) |
| OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Pesch U.E.A., Leo-Kottler B., Mayer S., Jurklies B., Kellner U., Apfelstedt-Sylla E., Zrenner E., Alexander C., Wissinger B. Hum. Mol. Genet. 10:1359-1368(2001) · UniProtKB (1) |
| OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Alexander C., Votruba M., Pesch U.E.A., Thiselton D.L., Mayer S., Moore A., Rodriguez M., Kellner U., Leo-Kottler B., Auburger G. et al. Nat. Genet. 26:211-215(2000) · UniProtKB (1) |
| Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene. Besch D., Leo-Kottler B., Zrenner E., Wissinger B. Graefes Arch. Clin. Exp. Ophthalmol. 237:745-752(1999) · UniProtKB (1) |
| Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): assessment of its role in dominant optic atrophy (OPA1). Stoehr H., Klein J., Gehrig A., Koehler M.R., Jurklies B., Kellner U., Leo-Kottler B., Schmid M., Weber B.H.F. Hum. Genet. 104:99-105(1999) · UniProtKB (1) |
| Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene. Leo-Kottler B., Christ-Adler M., Baumann B., Zrenner E., Wissinger B. Ger. J. Ophthalmol. 5:233-240(1996) · UniProtKB (1) |
| Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy. Kormann B.A., Schuster H., Berninger T.A., Leo-Kottler B. Hum. Genet. 88:98-100(1991) · UniProtKB (1) |