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Results: 16

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.

Am J Hum Genet. 2015 Jun 4;96(6):883-93. doi: 10.1016/j.ajhg.2015.04.010. Epub 2015 May 21.

PMID:
26004199
2.

HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency.

Han F, Lin L, Schormair B, Pizza F, Plazzi G, Ollila HM, Nevsimalova S, Jennum P, Knudsen S, Winkelmann J, Coquillard C, Babrzadeh F, Strom TM, Wang C, Mindrinos M, Fernandez Vina M, Mignot E.

Sleep. 2014 Oct 1;37(10):1601-8. doi: 10.5665/sleep.4066.

3.

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.

Zech M, Castrop F, Schormair B, Jochim A, Wieland T, Gross N, Lichtner P, Peters A, Gieger C, Meitinger T, Strom TM, Oexle K, Haslinger B, Winkelmann J.

Mov Disord. 2014 Oct;29(12):1504-10. doi: 10.1002/mds.25981. Epub 2014 Aug 20.

PMID:
25142429
4.

Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon.

Spieler D, Kaffe M, Knauf F, Bessa J, Tena JJ, Giesert F, Schormair B, Tilch E, Lee H, Horsch M, Czamara D, Karbalai N, von Toerne C, Waldenberger M, Gieger C, Lichtner P, Claussnitzer M, Naumann R, Müller-Myhsok B, Torres M, Garrett L, Rozman J, Klingenspor M, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Beckers J, Hölter SM, Meitinger T, Hauck SM, Laumen H, Wurst W, Casares F, Gómez-Skarmeta JL, Winkelmann J.

Genome Res. 2014 Apr;24(4):592-603. doi: 10.1101/gr.166751.113. Epub 2014 Mar 18.

5.

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E.

N Engl J Med. 2014 Mar 6;370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19.

6.

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.

Neurogenetics. 2014 Mar;15(1):49-57. doi: 10.1007/s10048-013-0383-8. Epub 2013 Nov 16.

7.

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.

Eur J Hum Genet. 2013 Apr;21(4):410-4. doi: 10.1038/ejhg.2012.193. Epub 2012 Aug 29.

8.

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G, Melberg A, Cornelio F, Urban AE, Pizza F, Poli F, Grubert F, Wieland T, Graf E, Hallmayer J, Strom TM, Mignot E.

Hum Mol Genet. 2012 May 15;21(10):2205-10. doi: 10.1093/hmg/dds035. Epub 2012 Feb 9.

9.

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.

Hopfner F, Schormair B, Knauf F, Berthele A, Tölle TR, Baron R, Maier C, Treede RD, Binder A, Sommer C, Maihöfner C, Kunz W, Zimprich F, Heemann U, Pfeufer A, Näbauer M, Kääb S, Nowak B, Gieger C, Lichtner P, Trenkwalder C, Oexle K, Winkelmann J.

BMC Neurol. 2011 Oct 27;11:134. doi: 10.1186/1471-2377-11-134.

10.

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.

Winkelmann J, Czamara D, Schormair B, Knauf F, Schulte EC, Trenkwalder C, Dauvilliers Y, Polo O, Högl B, Berger K, Fuhs A, Gross N, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Xiong L, Montplaisir J, Rouleau GA, Fietze I, Vávrová J, Kemlink D, Sonka K, Nevsimalova S, Lin SC, Wszolek Z, Vilariño-Güell C, Farrer MJ, Gschliesser V, Frauscher B, Falkenstetter T, Poewe W, Allen RP, Earley CJ, Ondo WG, Le WD, Spieler D, Kaffe M, Zimprich A, Kettunen J, Perola M, Silander K, Cournu-Rebeix I, Francavilla M, Fontenille C, Fontaine B, Vodicka P, Prokisch H, Lichtner P, Peppard P, Faraco J, Mignot E, Gieger C, Illig T, Wichmann HE, Müller-Myhsok B, Meitinger T.

PLoS Genet. 2011 Jul;7(7):e1002171. doi: 10.1371/journal.pgen.1002171. Epub 2011 Jul 14. Erratum in: PLoS Genet. 2011 Aug;7(8). doi: 10.1371/annotation/393ad2d3-df4f-4770-87bc-00bfabf79362.

11.

MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease.

Schormair B, Plag J, Kaffe M, Gross N, Czamara D, Samtleben W, Lichtner P, Ströhle A, Stefanidis I, Vainas A, Dardiotis E, Sakkas GK, Gieger C, Müller-Myhsok B, Meitinger T, Heemann U, Hadjigeorgiou GM, Oexle K, Winkelmann J.

J Med Genet. 2011 Jul;48(7):462-6. doi: 10.1136/jmg.2010.087858. Epub 2011 May 14.

12.

Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome.

Schulte EC, Knauf F, Kemlink D, Schormair B, Lichtner P, Gieger C, Meitinger T, Winkelmann J.

Neurology. 2011 Mar 22;76(12):1106-8. doi: 10.1212/WNL.0b013e318211c366. No abstract available.

PMID:
21422461
13.

Replication of restless legs syndrome loci in three European populations.

Kemlink D, Polo O, Frauscher B, Gschliesser V, Högl B, Poewe W, Vodicka P, Vavrova J, Sonka K, Nevsimalova S, Schormair B, Lichtner P, Silander K, Peltonen L, Gieger C, Wichmann HE, Zimprich A, Roeske D, Müller-Myhsok B, Meitinger T, Winkelmann J.

J Med Genet. 2009 May;46(5):315-8. doi: 10.1136/jmg.2008.062992. Epub 2009 Mar 10.

14.

PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.

Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, Ripke S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Högl B, Frauscher B, Gschliesser V, Poewe W, Peglau I, Vodicka P, Vávrová J, Sonka K, Nevsimalova S, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T, Winkelmann J.

Nat Genet. 2008 Aug;40(8):946-8. doi: 10.1038/ng.190. Epub 2008 Jul 27.

PMID:
18660810
15.

Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome.

Winkelmann J, Lichtner P, Schormair B, Uhr M, Hauk S, Stiasny-Kolster K, Trenkwalder C, Paulus W, Peglau I, Eisensehr I, Illig T, Wichmann HE, Pfister H, Golic J, Bettecken T, Pütz B, Holsboer F, Meitinger T, Müller-Myhsok B.

Mov Disord. 2008 Feb 15;23(3):350-8.

PMID:
18058820
16.

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.

Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, Fulda S, Pütz B, Eckstein G, Hauk S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Peglau I, Eisensehr I, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T.

Nat Genet. 2007 Aug;39(8):1000-6. Epub 2007 Jul 18.

PMID:
17637780
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