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Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis.
Greisenegger E, Novak N, Maintz L, Bieber T, Zimprich F, Haubenberger D, Gleiss A, Stingl G, Kopp T, Zimprich A. Greisenegger E, et al. Among authors: zimprich a, zimprich f. J Eur Acad Dermatol Venereol. 2010 May;24(5):607-10. doi: 10.1111/j.1468-3083.2009.03469.x. Epub 2009 Oct 23. J Eur Acad Dermatol Venereol. 2010. PMID: 19874431
Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions.
Schumacher-Schuh AF, Bieger A, Okunoye O, Mok KY, Lim SY, Bardien S, Ahmad-Annuar A, Santos-Lobato BL, Strelow MZ, Salama M, Rao SC, Zewde YZ, Dindayal S, Azar J, Prashanth LK, Rajan R, Noyce AJ, Okubadejo N, Rizig M, Lesage S, Mata IF; Global Parkinson's Genetics Program (GP2). Schumacher-Schuh AF, et al. Mov Disord. 2022 Aug;37(8):1593-1604. doi: 10.1002/mds.29126. Epub 2022 Jul 22. Mov Disord. 2022. PMID: 35867623 Free PMC article. Review.
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.
Stogmann E, Lichtner P, Baumgartner C, Schmied M, Hotzy C, Asmus F, Leutmezer F, Bonelli S, Assem-Hilger E, Vass K, Hatala K, Strom TM, Meitinger T, Zimprich F, Zimprich A. Stogmann E, et al. Among authors: zimprich a, zimprich f. Neurogenetics. 2006 Nov;7(4):265-8. doi: 10.1007/s10048-006-0057-x. Epub 2006 Aug 24. Neurogenetics. 2006. PMID: 16932951
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
Stogmann E, Lichtner P, Baumgartner C, Bonelli S, Assem-Hilger E, Leutmezer F, Schmied M, Hotzy C, Strom TM, Meitinger T, Zimprich F, Zimprich A. Stogmann E, et al. Among authors: zimprich a, zimprich f. Neurology. 2006 Dec 12;67(11):2029-31. doi: 10.1212/01.wnl.0000250254.67042.1b. Neurology. 2006. PMID: 17159113
A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.
Haubenberger D, Bonelli S, Hotzy C, Leitner P, Lichtner P, Samal D, Katzenschlager R, Djamshidian A, Brücke T, Steffelbauer M, Bancher C, Grossmann J, Ransmayr G, Strom TM, Meitinger T, Gasser T, Auff E, Zimprich A. Haubenberger D, et al. Among authors: zimprich a. Mov Disord. 2007 Aug 15;22(11):1640-3. doi: 10.1002/mds.21568. Mov Disord. 2007. PMID: 17523199
A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.
Stogmann E, El Tawil S, Wagenstaller J, Gaber A, Edris S, Abdelhady A, Assem-Hilger E, Leutmezer F, Bonelli S, Baumgartner C, Zimprich F, Strom TM, Zimprich A. Stogmann E, et al. Among authors: zimprich a, zimprich f. Neurogenetics. 2009 Feb;10(1):73-7. doi: 10.1007/s10048-008-0153-1. Epub 2008 Oct 11. Neurogenetics. 2009. PMID: 18850119
163 results