Meitinger T - Search Results

1

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. Wortmann SB, et al. Among authors: meitinger t. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. Am J Hum Genet. 2015. PMID: 25597510 Free PMC article.

2

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria.

Hörtnagel K, Prokisch H, Meitinger T. Hörtnagel K, et al. Among authors: meitinger t. Hum Mol Genet. 2003 Feb 1;12(3):321-7. doi: 10.1093/hmg/ddg026. Hum Mol Genet. 2003. PMID: 12554685

3

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.

Grabowski M, Zimprich A, Lorenz-Depiereux B, Kalscheuer V, Asmus F, Gasser T, Meitinger T, Strom TM. Grabowski M, et al. Among authors: meitinger t. Eur J Hum Genet. 2003 Feb;11(2):138-44. doi: 10.1038/sj.ejhg.5200938. Eur J Hum Genet. 2003. PMID: 12634861

4

A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33.

Giehl KA, Eckstein GN, Benet-Pagès A, Tosti A, de Berker DA, Meitinger T, Müller-Myhsok B, Strom TM. Giehl KA, et al. Among authors: meitinger t. J Invest Dermatol. 2004 Dec;123(6):1073-7. doi: 10.1111/j.0022-202X.2004.23423.x. J Invest Dermatol. 2004. PMID: 15610517 Free article.

5

Mechanisms for multiple intracellular localization of human mitochondrial proteins.

Mueller JC, Andreoli C, Prokisch H, Meitinger T. Mueller JC, et al. Among authors: meitinger t. Mitochondrion. 2004 May;3(6):315-25. doi: 10.1016/j.mito.2004.02.002. Mitochondrion. 2004. PMID: 16120363

6

The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity.

Gloeckner CJ, Kinkl N, Schumacher A, Braun RJ, O'Neill E, Meitinger T, Kolch W, Prokisch H, Ueffing M. Gloeckner CJ, et al. Among authors: meitinger t. Hum Mol Genet. 2006 Jan 15;15(2):223-32. doi: 10.1093/hmg/ddi439. Epub 2005 Dec 1. Hum Mol Genet. 2006. PMID: 16321986

7

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.

Hartig MB, Hörtnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, Meitinger T. Hartig MB, et al. Among authors: meitinger t. Ann Neurol. 2006 Feb;59(2):248-56. doi: 10.1002/ana.20771. Ann Neurol. 2006. PMID: 16437574

8

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP. den Hollander AI, et al. Among authors: meitinger t. Am J Hum Genet. 2006 Sep;79(3):556-61. doi: 10.1086/507318. Epub 2006 Jul 11. Am J Hum Genet. 2006. PMID: 16909394 Free PMC article.

9

A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.

Prokisch H, Hartig M, Hellinger R, Meitinger T, Rosenberg T. Prokisch H, et al. Among authors: meitinger t. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4012-8. doi: 10.1167/iovs.07-0071. Invest Ophthalmol Vis Sci. 2007. PMID: 17724181

10

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, Wahl D, Heye B, Glaser D, Liebscher V, Meitinger T, Strom TM. Wagenstaller J, et al. Among authors: meitinger t. Am J Hum Genet. 2007 Oct;81(4):768-79. doi: 10.1086/521274. Epub 2007 Aug 28. Am J Hum Genet. 2007. PMID: 17847001 Free PMC article.

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