Auburger G - 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: auburger g. J Med Genet. 2009 Feb;46(2):136-44. doi: 10.1136/jmg.2008.062570. J Med Genet. 2009. PMID: 19181907

2

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. Among authors: auburger g. Nat Genet. 2000 Oct;26(2):211-5. doi: 10.1038/79944. Nat Genet. 2000. PMID: 11017080

3

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: auburger g. Mol Neurodegener. 2010 Jun 14;5:25. doi: 10.1186/1750-1326-5-25. Mol Neurodegener. 2010. PMID: 20546606 Free PMC article.

4

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Bertram L, Bozi M, Barcikowska M, Crosiers D, Clarke CE, Facheris MF, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon BS, Jamrozik Z, Krygowska-Wajs A, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Libioulle C, Murata M, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Meitnger T, Zimprich A, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Strom TM, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Van Broeckhoven C, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yomono HS, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R; GEOPD consortium. Sharma M, et al. Among authors: auburger g. J Med Genet. 2012 Nov;49(11):721-6. doi: 10.1136/jmedgenet-2012-101155. J Med Genet. 2012. PMID: 23125461 Free PMC article.

5

Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer.

Lunkes A, Hartung U, Magariño C, Rodríguez M, Palmero A, Rodríguez L, Heredero L, Weissenbach J, Weber J, Auburger G. Lunkes A, et al. Among authors: auburger g. Am J Hum Genet. 1995 Oct;57(4):968-70. Am J Hum Genet. 1995. PMID: 7573062 Free PMC article. No abstract available.

6

Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity.

Gispert S, Santos N, Damen R, Voit T, Schulz J, Klockgether T, Orozco G, Kreuz F, Weissenbach J, Auburger G. Gispert S, et al. Among authors: auburger g. Am J Hum Genet. 1995 Jan;56(1):183-7. Am J Hum Genet. 1995. PMID: 7825576 Free PMC article.

7

Molecular heterogeneity of autosomal dominant cerebellar ataxia: analysis of flanking microsatellites of the spinocerebellar ataxia 1 locus in a northern European family unequivocally demonstrates non-linkage.

Lunkes A, Gispert S, Enczmann J, Auburger G. Lunkes A, et al. Among authors: auburger g. Hum Genet. 1993 May;91(4):362-6. doi: 10.1007/BF00217357. Hum Genet. 1993. PMID: 8099059

8

Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution.

Leube B, Rudnicki D, Ratzlaff T, Kessler KR, Benecke R, Auburger G. Leube B, et al. Among authors: auburger g. Hum Mol Genet. 1996 Oct;5(10):1673-7. doi: 10.1093/hmg/5.10.1673. Hum Mol Genet. 1996. PMID: 8894706

9

Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe.

Leube B, Hendgen T, Kessler KR, Knapp M, Benecke R, Auburger G. Leube B, et al. Among authors: auburger g. Am J Med Genet. 1997 Sep 19;74(5):529-32. doi: 10.1002/(sici)1096-8628(19970919)74:5<529::aid-ajmg15>3.0.co;2-e. Am J Med Genet. 1997. PMID: 9342206

10

Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population.

Auburger G, Diaz GO, Capote RF, Sanchez SG, Perez MP, del Cueto ME, Meneses MG, Farrall M, Williamson R, Chamberlain S, et al. Auburger G, et al. Am J Hum Genet. 1990 Jun;46(6):1163-77. Am J Hum Genet. 1990. PMID: 1971152 Free PMC article.

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