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Items: 12

1.

Utility and implications of exome sequencing in early-onset Parkinson's disease.

Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A; International Parkinson's Disease Genomics Consortium (IPDGC), Klein C.

Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10.

PMID:
30537300
2.

Analysis of blood-based gene expression in idiopathic Parkinson disease.

Shamir R, Klein C, Amar D, Vollstedt EJ, Bonin M, Usenovic M, Wong YC, Maver A, Poths S, Safer H, Corvol JC, Lesage S, Lavi O, Deuschl G, Kuhlenbaeumer G, Pawlack H, Ulitsky I, Kasten M, Riess O, Brice A, Peterlin B, Krainc D.

Neurology. 2017 Oct 17;89(16):1676-1683. doi: 10.1212/WNL.0000000000004516. Epub 2017 Sep 15.

3.

Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.

Westenberger A, Max C, Brüggemann N, Domingo A, Grütz K, Pawlack H, Weissbach A, Kühn AA, Spiegler J, Lang AE, Sperner J, Fung VSC, Schallner J, Gillessen-Kaesbach G, Münchau A, Klein C.

J Pediatr. 2017 Feb;181:306-308.e1. doi: 10.1016/j.jpeds.2016.10.079. Epub 2016 Dec 6.

PMID:
27931826
4.

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.

Mišković ND, Domingo A, Dobričić V, Max C, Braenne I, Petrović I, Grütz K, Pawlack H, Tournev I, Kalaydjieva L, Svetel M, Lohmann K, Kostić VS, Westenberger A.

Mov Disord. 2016 Dec;31(12):1929-1931. doi: 10.1002/mds.26816. Epub 2016 Oct 27. No abstract available.

PMID:
27787937
5.

Mortalin mutations are not a frequent cause of early-onset Parkinson disease.

Freimann K, Zschiedrich K, Brüggemann N, Grünewald A, Pawlack H, Hagenah J, Lohmann K, Klein C, Westenberger A.

Neurobiol Aging. 2013 Nov;34(11):2694.e19-20. doi: 10.1016/j.neurobiolaging.2013.05.021. Epub 2013 Jul 5.

PMID:
23831374
6.

Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease.

Kertelge L, Brüggemann N, Schmidt A, Tadic V, Wisse C, Dankert S, Drude L, van der Vegt J, Siebner H, Pawlack H, Pramstaller PP, Behrens MI, Ramirez A, Reichel D, Buhmann C, Hagenah J, Klein C, Lohmann K, Kasten M.

Mov Disord. 2010 Nov 15;25(15):2665-9. doi: 10.1002/mds.23272.

PMID:
20721915
7.

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

Djarmati A, Hagenah J, Reetz K, Winkler S, Behrens MI, Pawlack H, Lohmann K, Ramirez A, Tadić V, Brüggemann N, Berg D, Siebner HR, Lang AE, Pramstaller PP, Binkofski F, Kostić VS, Volkmann J, Gasser T, Klein C.

Mov Disord. 2009 Oct 30;24(14):2104-11. doi: 10.1002/mds.22728.

PMID:
19705361
8.

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.

Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C.

Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09)70083-3. Epub 2009 Apr 1.

PMID:
19345148
9.

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
10.

Myoclonus-dystonia: significance of large SGCE deletions.

Grünewald A, Djarmati A, Lohmann-Hedrich K, Farrell K, Zeller JA, Allert N, Papengut F, Petersen B, Fung V, Sue CM, O'Sullivan D, Mahant N, Kupsch A, Chuang RS, Wiegers K, Pawlack H, Hagenah J, Ozelius LJ, Stephani U, Schuit R, Lang AE, Volkmann J, Münchau A, Klein C.

Hum Mutat. 2008 Feb;29(2):331-2. doi: 10.1002/humu.9521.

PMID:
18205193
11.

Spinocerebellar ataxia type 4. Investigation of 34 candidate genes.

Hellenbroich Y, Pawlack H, Rüb U, Schwinger E, Zühlke Ch.

J Neurol. 2005 Dec;252(12):1472-5. Epub 2005 Jul 7.

PMID:
15999233
12.

Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.

Hellenbroich Y, Bubel S, Pawlack H, Opitz S, Vieregge P, Schwinger E, Zühlke C.

J Neurol. 2003 Jun;250(6):668-71.

PMID:
12796826

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