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Items: 19

1.

Cardiolipin promotes electron transport between ubiquinone and complex I to rescue PINK1 deficiency.

Vos M, Geens A, Böhm C, Deaulmerie L, Swerts J, Rossi M, Craessaerts K, Leites EP, Seibler P, Rakovic A, Lohnau T, De Strooper B, Fendt SM, Morais VA, Klein C, Verstreken P.

J Cell Biol. 2017 Mar 6;216(3):695-708. doi: 10.1083/jcb.201511044. Epub 2017 Jan 30.

2.

The role of mutations in COL6A3 in isolated dystonia.

Lohmann K, Schlicht F, Svetel M, Hinrichs F, Zittel S, Graf J, Lohnau T, Schmidt A, Mir P, Krause P, Lang AE, Jabusch HC, Wolters A, Kamm C, Zeuner KE, Altenmüller E, Naz S, Chung SJ, Kostic VS, Münchau A, Kühn AA, Brüggemann N, Klein C.

J Neurol. 2016 Apr;263(4):730-4. doi: 10.1007/s00415-016-8046-y. Epub 2016 Feb 12.

PMID:
26872670
3.

THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.

Erogullari A, Hollstein R, Seibler P, Braunholz D, Koschmidder E, Depping R, Eckhold J, Lohnau T, Gillessen-Kaesbach G, Grünewald A, Rakovic A, Lohmann K, Kaiser FJ.

Biochim Biophys Acta. 2014 Nov;1839(11):1196-204. doi: 10.1016/j.bbagrm.2014.07.019. Epub 2014 Aug 1.

PMID:
25088175
4.

Mutations in GNAL: a novel cause of craniocervical dystonia.

Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic VS, Sue CM, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemyanov KA, Schmidt A.

JAMA Neurol. 2014 Apr;71(4):490-4. doi: 10.1001/jamaneurol.2013.4677.

5.

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.

Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zühlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nürnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C.

J Neurol. 2014 Jan;261(1):207-12. doi: 10.1007/s00415-013-7177-7. Epub 2013 Nov 8.

PMID:
24202787
6.

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C.

Ann Neurol. 2013 Apr;73(4):537-45. doi: 10.1002/ana.23829. Epub 2013 Apr 17.

PMID:
23595291
7.

Exome sequencing in a family with restless legs syndrome.

Weissbach A, Siegesmund K, Brüggemann N, Schmidt A, Kasten M, Pichler I, Muhle H, Lohmann E, Lohnau T, Schwinger E, Hagenah J, Stephani U, Pramstaller PP, Klein C, Lohmann K.

Mov Disord. 2012 Nov;27(13):1686-9. doi: 10.1002/mds.25191.

PMID:
23192925
8.

Autosomal dominant Parkinson's disease in a large German pedigree.

Brüggemann N, Külper W, Hagenah J, Bauer P, Pattaro C, Tadic V, Lohnau T, Winkler S, Tönnies H, Sprenger A, Pramstaller P, Rolfs A, Siebert R, Riess O, Vieregge P, Lohmann K, Klein C.

Acta Neurol Scand. 2012 Aug;126(2):129-37. doi: 10.1111/j.1600-0404.2011.01621.x. Epub 2011 Nov 23.

PMID:
22107061
9.

Identification and functional analysis of novel THAP1 mutations.

Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, Kühn AA, Schmidt A, Altenmüller E, Münchau A, Kamm C, Wittstock M, Kupsch A, Moro E, Volkmann J, Kostic V, Kaiser FJ, Klein C, Brüggemann N.

Eur J Hum Genet. 2012 Feb;20(2):171-5. doi: 10.1038/ejhg.2011.159. Epub 2011 Aug 17.

10.

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).

Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K.

Ann Neurol. 2010 Oct;68(4):554-9. doi: 10.1002/ana.22157.

PMID:
20976771
11.

Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.

Zittel S, Moll CK, Brüggemann N, Tadic V, Hamel W, Kasten M, Lohmann K, Lohnau T, Winkler S, Gerloff C, Schönweiler R, Hagenah J, Klein C, Münchau A, Schneider SA.

Mov Disord. 2010 Oct 30;25(14):2405-12. doi: 10.1002/mds.23279.

PMID:
20687193
12.

Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.

Brüggemann N, Mitterer M, Lanthaler AJ, Djarmati A, Hagenah J, Wiegers K, Winkler S, Pawlack H, Lohnau T, Pramstaller PP, Klein C, Lohmann K.

Parkinsonism Relat Disord. 2009 Jul;15(6):425-9. doi: 10.1016/j.parkreldis.2008.11.014. Epub 2009 Jan 21.

PMID:
19162522
13.

Childhood-onset restless legs syndrome: clinical and genetic features of 22 families.

Muhle H, Neumann A, Lohmann-Hedrich K, Lohnau T, Lu Y, Winkler S, Waltz S, Fischenbeck A, Kramer PL, Klein C, Stephani U.

Mov Disord. 2008 Jun 15;23(8):1113-21; quiz 1203. doi: 10.1002/mds.22016.

PMID:
18381645
14.

Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?

Lohmann-Hedrich K, Neumann A, Kleensang A, Lohnau T, Muhle H, Djarmati A, König IR, Pramstaller PP, Schwinger E, Kramer PL, Ziegler A, Stephani U, Klein C.

Neurology. 2008 Feb 26;70(9):686-94. Epub 2007 Nov 21.

PMID:
18032746
15.

Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?

Hedrich K, Hagenah J, Djarmati A, Hiller A, Lohnau T, Lasek K, Grünewald A, Hilker R, Steinlechner S, Boston H, Kock N, Schneider-Gold C, Kress W, Siebner H, Binkofski F, Lencer R, Münchau A, Klein C.

Arch Neurol. 2006 Jun;63(6):833-8.

PMID:
16769864
16.

Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?

Djarmati A, Hedrich K, Svetel M, Lohnau T, Schwinger E, Romac S, Pramstaller PP, Kostić V, Klein C.

Mov Disord. 2006 Sep;21(9):1526-30.

PMID:
16755580
17.

Co-occurrence of restless legs syndrome and Parkin mutations in two families.

Adel S, Djarmati A, Kabakci K, Pichler I, Eskelson C, Lohnau T, Kock N, Hagenah J, Hedrich K, Schwinger E, Kramer PL, Pramstaller PP, Klein C.

Mov Disord. 2006 Feb;21(2):258-63.

PMID:
16161156
18.

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

Klein C, Djarmati A, Hedrich K, Schäfer N, Scaglione C, Marchese R, Kock N, Schüle B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP.

Eur J Hum Genet. 2005 Sep;13(9):1086-93.

19.

High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.

Hagenah J, Saunders-Pullman R, Hedrich K, Kabakci K, Habermann K, Wiegers K, Mohrmann K, Lohnau T, Raymond D, Vieregge P, Nygaard T, Ozelius LJ, Bressman SB, Klein C.

Neurology. 2005 Mar 8;64(5):908-11.

PMID:
15753436

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