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Page 1
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
Zech M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmüller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J. Zech M, et al. Among authors: lichtner p. Am J Hum Genet. 2015 Jun 4;96(6):883-93. doi: 10.1016/j.ajhg.2015.04.010. Epub 2015 May 21. Am J Hum Genet. 2015. PMID: 26004199 Free PMC article.
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.
Schulte EC, Kousi M, Tan PL, Tilch E, Knauf F, Lichtner P, Trenkwalder C, Högl B, Frauscher B, Berger K, Fietze I, Hornyak M, Oertel WH, Bachmann CG, Zimprich A, Peters A, Gieger C, Meitinger T, Müller-Myhsok B, Katsanis N, Winkelmann J. Schulte EC, et al. Among authors: lichtner p. Am J Hum Genet. 2014 Jul 3;95(1):85-95. doi: 10.1016/j.ajhg.2014.06.005. Am J Hum Genet. 2014. PMID: 24995868 Free PMC article.
Large-scale TUBB4A mutational screening in isolated dystonia and controls.
Zech M, Boesch S, Jochim A, Graf S, Lichtner P, Peters A, Gieger C, Mueller J, Poewe W, Haslinger B, Winkelmann J. Zech M, et al. Among authors: lichtner p. Parkinsonism Relat Disord. 2015 Oct;21(10):1278-81. doi: 10.1016/j.parkreldis.2015.08.017. Epub 2015 Aug 20. Parkinsonism Relat Disord. 2015. PMID: 26318963
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM. Lorenz-Depiereux B, et al. Among authors: lichtner p. Am J Hum Genet. 2006 Feb;78(2):193-201. doi: 10.1086/499410. Epub 2005 Dec 9. Am J Hum Genet. 2006. PMID: 16358215 Free PMC article.
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.
Zimprich A, Benet-Pagès A, Struhal W, Graf E, Eck SH, Offman MN, Haubenberger D, Spielberger S, Schulte EC, Lichtner P, Rossle SC, Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B, Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A, Kralovics R, Peters A, Zimprich F, Brücke T, Poewe W, Auff E, Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T, Strom TM. Zimprich A, et al. Among authors: lichtner p. Am J Hum Genet. 2011 Jul 15;89(1):168-75. doi: 10.1016/j.ajhg.2011.06.008. Am J Hum Genet. 2011. PMID: 21763483 Free PMC article.
Dilution of candidates: the case of iron-related genes in restless legs syndrome.
Oexle K, Schormair B, Ried JS, Czamara D, Heim K, Frauscher B, Högl B, Trenkwalder C, Martin Fiedler G, Thiery J, Lichtner P, Prokisch H, Specht M, Müller-Myhsok B, Döring A, Gieger C, Peters A, Wichmann HE, Meitinger T, Winkelmann J. Oexle K, et al. Among authors: lichtner p. Eur J Hum Genet. 2013 Apr;21(4):410-4. doi: 10.1038/ejhg.2012.193. Epub 2012 Aug 29. Eur J Hum Genet. 2013. PMID: 22929029 Free PMC article.
Rare variants in LRRK1 and Parkinson's disease.
Schulte EC, Ellwanger DC, Dihanich S, Manzoni C, Stangl K, Schormair B, Graf E, Eck S, Mollenhauer B, Haubenberger D, Pirker W, Zimprich A, Brücke T, Lichtner P, Peters A, Gieger C, Trenkwalder C, Mewes HW, Meitinger T, Lewis PA, Klünemann HH, Winkelmann J. Schulte EC, et al. Among authors: lichtner p. Neurogenetics. 2014 Mar;15(1):49-57. doi: 10.1007/s10048-013-0383-8. Epub 2013 Nov 16. Neurogenetics. 2014. PMID: 24241507 Free PMC article.
247 results