Meitinger T - Search Results

1

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H. Haack TB, et al. Among authors: meitinger t. Am J Hum Genet. 2015 Jul 2;97(1):163-9. doi: 10.1016/j.ajhg.2015.05.009. Epub 2015 Jun 11. Am J Hum Genet. 2015. PMID: 26073778 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

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.

Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH. Rivera A, et al. Among authors: meitinger t. Hum Mol Genet. 2005 Nov 1;14(21):3227-36. doi: 10.1093/hmg/ddi353. Epub 2005 Sep 20. Hum Mol Genet. 2005. PMID: 16174643

7

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

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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