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431 results

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Page 1
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium; Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J. Van de Vondel L, et al. Among authors: lohmann k. Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12. Mov Disord. 2022. PMID: 35150594 Free PMC article.
Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.
Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat MR, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A. Rakovic A, et al. Among authors: lohmann k. Mov Disord. 2009 Feb 15;24(3):429-33. doi: 10.1002/mds.22399. Mov Disord. 2009. PMID: 19097176 Free article.
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. Djarmati A, et al. Among authors: lohmann k. Mov Disord. 2009 Oct 30;24(14):2104-11. doi: 10.1002/mds.22728. Mov Disord. 2009. PMID: 19705361
Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15.
Weissbach A, Djarmati A, Klein C, Dragasević N, Zühlke C, Raković A, Guzvić M, Butz E, Tönnies H, Siebert R, Petrović I, Svetel M, Kostić VS, Lohmann K. Weissbach A, et al. Among authors: lohmann k. Mov Disord. 2010 Aug 15;25(11):1577-82. doi: 10.1002/mds.22857. Mov Disord. 2010. PMID: 20589871
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. Kertelge L, et al. Among authors: lohmann k. Mov Disord. 2010 Nov 15;25(15):2665-9. doi: 10.1002/mds.23272. Mov Disord. 2010. PMID: 20721915
Homozygous THAP1 mutations as cause of early-onset generalized dystonia.
Schneider SA, Ramirez A, Shafiee K, Kaiser FJ, Erogullari A, Brüggemann N, Winkler S, Bahman I, Osmanovic A, Shafa MA, Bhatia KP, Najmabadi H, Klein C, Lohmann K. Schneider SA, et al. Among authors: lohmann k. Mov Disord. 2011 Apr;26(5):858-61. doi: 10.1002/mds.23561. Epub 2011 Mar 21. Mov Disord. 2011. PMID: 21425335
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. Weissbach A, et al. Among authors: lohmann k, lohmann e. Mov Disord. 2012 Nov;27(13):1686-9. doi: 10.1002/mds.25191. Mov Disord. 2012. PMID: 23192925
X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.
Westenberger A, Rosales RL, Heinitz S, Freimann K, Lee LV, Jamora RD, Ng AR, Domingo A, Lohmann K, Walter U, Gölnitz U, Rolfs A, Nagel I, Gillessen-Kaesbach G, Siebert R, Dressler D, Klein C. Westenberger A, et al. Among authors: lohmann k. Mov Disord. 2013 May;28(5):675-8. doi: 10.1002/mds.25369. Epub 2013 Feb 6. Mov Disord. 2013. PMID: 23389859
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. Doss S, et al. Among authors: lohmann k, lohmann e. J Neurol. 2014 Jan;261(1):207-12. doi: 10.1007/s00415-013-7177-7. Epub 2013 Nov 8. J Neurol. 2014. PMID: 24202787
431 results