Leo-Kottler B - Search Results

1

Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.

Fuhrmann N, Alavi MV, Bitoun P, Woernle S, Auburger G, Leo-Kottler B, Yu-Wai-Man P, Chinnery P, Wissinger B. Fuhrmann N, et al. Among authors: leo kottler b. J Med Genet. 2009 Feb;46(2):136-44. doi: 10.1136/jmg.2008.062570. J Med Genet. 2009. PMID: 19181907

2

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.

Fuhrmann N, Schimpf S, Kamenisch Y, Leo-Kottler B, Alexander C, Auburger G, Zrenner E, Wissinger B, Alavi MV. Fuhrmann N, et al. Among authors: leo kottler b. Mol Neurodegener. 2010 Jun 14;5:25. doi: 10.1186/1750-1326-5-25. Mol Neurodegener. 2010. PMID: 20546606 Free PMC article.

3

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B. Alexander C, et al. Nat Genet. 2000 Oct;26(2):211-5. doi: 10.1038/79944. Nat Genet. 2000. PMID: 11017080

4

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

Pesch UE, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E, Zrenner E, Alexander C, Wissinger B. Pesch UE, et al. Hum Mol Genet. 2001 Jun 15;10(13):1359-68. doi: 10.1093/hmg/10.13.1359. Hum Mol Genet. 2001. PMID: 11440988

5

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.

Grau T, Burbulla LF, Engl G, Delettre C, Delprat B, Oexle K, Leo-Kottler B, Roscioli T, Krüger R, Rapaport D, Wissinger B, Schimpf-Linzenbold S. Grau T, et al. Among authors: leo kottler b. J Med Genet. 2013 Dec;50(12):848-58. doi: 10.1136/jmedgenet-2013-101774. Epub 2013 Oct 17. J Med Genet. 2013. PMID: 24136862

6

[Leber's hereditary optic neuropathy].

Leo-Kottler B, Wissinger B. Leo-Kottler B, et al. Ophthalmologe. 2011 Dec;108(12):1179-92; quiz 1193-4. doi: 10.1007/s00347-011-2482-y. Ophthalmologe. 2011. PMID: 22130685 German.

7

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. Leo-Kottler B, et al. Ger J Ophthalmol. 1996 Jul;5(4):233-40. Ger J Ophthalmol. 1996. PMID: 8854108

8

[Correlation between clinical and molecular genetic findings in Leber's optic atrophy].

Leo-Kottler B, Christ-Adler M, Reck B, Wissinger B, Zrenner E. Leo-Kottler B, et al. Ophthalmologe. 1995 Feb;92(1):86-92. Ophthalmologe. 1995. PMID: 7719084 German.

9

[Diagnostic error in Leber's optic neuropathy. Value of clinical and molecular genetic studies].

Leo-Kottler B, Christ-Adler M, Wissinger B, Zrenner E. Leo-Kottler B, et al. Ophthalmologe. 1998 Aug;95(8):549-54. doi: 10.1007/s003470050314. Ophthalmologe. 1998. PMID: 9782731 German.

10

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. Besch D, et al. Graefes Arch Clin Exp Ophthalmol. 1999 Sep;237(9):745-52. doi: 10.1007/s004170050307. Graefes Arch Clin Exp Ophthalmol. 1999. PMID: 10447650

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

32 results

Search Page

Filters