Prokisch H - Search Results

1

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ. Haack TB, et al. Among authors: prokisch h. Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176820 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: prokisch h. Hum Mol Genet. 2003 Feb 1;12(3):321-7. doi: 10.1093/hmg/ddg026. Hum Mol Genet. 2003. PMID: 12554685

3

MitoP2, an integrated database on mitochondrial proteins in yeast and man.

Andreoli C, Prokisch H, Hörtnagel K, Mueller JC, Münsterkötter M, Scharfe C, Meitinger T. Andreoli C, et al. Among authors: prokisch h. Nucleic Acids Res. 2004 Jan 1;32(Database issue):D459-62. doi: 10.1093/nar/gkh137. Nucleic Acids Res. 2004. PMID: 14681457 Free PMC article.

4

Mechanisms for multiple intracellular localization of human mitochondrial proteins.

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

5

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: prokisch h. 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

6

MitoP2: the mitochondrial proteome database--now including mouse data.

Prokisch H, Andreoli C, Ahting U, Heiss K, Ruepp A, Scharfe C, Meitinger T. Prokisch H, et al. Nucleic Acids Res. 2006 Jan 1;34(Database issue):D705-11. doi: 10.1093/nar/gkj127. Nucleic Acids Res. 2006. PMID: 16381964 Free PMC article.

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: prokisch h. Ann Neurol. 2006 Feb;59(2):248-56. doi: 10.1002/ana.20771. Ann Neurol. 2006. PMID: 16437574

8

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. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4012-8. doi: 10.1167/iovs.07-0071. Invest Ophthalmol Vis Sci. 2007. PMID: 17724181

9

Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration.

Lyoo CH, Prokisch H, Meitinger T, Lee SY, Kim DH, Lee MS. Lyoo CH, et al. Among authors: prokisch h. Mov Disord. 2008 Jan 30;23(2):283-4. doi: 10.1002/mds.21799. Mov Disord. 2008. PMID: 17999425

10

SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.

Döring A, Gieger C, Mehta D, Gohlke H, Prokisch H, Coassin S, Fischer G, Henke K, Klopp N, Kronenberg F, Paulweber B, Pfeufer A, Rosskopf D, Völzke H, Illig T, Meitinger T, Wichmann HE, Meisinger C. Döring A, et al. Among authors: prokisch h. Nat Genet. 2008 Apr;40(4):430-6. doi: 10.1038/ng.107. Epub 2008 Mar 9. Nat Genet. 2008. PMID: 18327256

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