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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: lichtner p. Mov Disord. 2007 Aug 15;22(11):1640-3. doi: 10.1002/mds.21568. Mov Disord. 2007. PMID: 17523199
PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease.
Zimprich A, Schulte C, Reinthaler E, Haubenberger D, Balzar J, Lichtner P, El Tawil S, Edris S, Foki T, Pirker W, Katzenschlager R, Daniel G, Brücke T, Auff E, Gasser T. Zimprich A, et al. Among authors: lichtner p. Parkinsonism Relat Disord. 2009 Aug;15(7):532-4. doi: 10.1016/j.parkreldis.2009.01.005. Epub 2009 Feb 27. Parkinsonism Relat Disord. 2009. PMID: 19250854
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.
Zimprich A, Benet-Pagès A, Struhal W, Graf E, Eck SH, Offman MN, Haubenberger D, Spielberger S, Schulte EC, Lichtner P, Rossle SC, Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B, Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A, Kralovics R, Peters A, Zimprich F, Brücke T, Poewe W, Auff E, Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T, Strom TM. Zimprich A, et al. Among authors: lichtner p. Am J Hum Genet. 2011 Jul 15;89(1):168-75. doi: 10.1016/j.ajhg.2011.06.008. Am J Hum Genet. 2011. PMID: 21763483 Free PMC article.
Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.
Schmied MC, Zehetmayer S, Reindl M, Ehling R, Bajer-Kornek B, Leutmezer F, Zebenholzer K, Hotzy C, Lichtner P, Meitinger T, Wichmann HE, Illig T, Gieger C, Huber K, Khalil M, Fuchs S, Schmidt H, Auff E, Kristoferitsch W, Fazekas F, Berger T, Vass K, Zimprich A. Schmied MC, et al. Among authors: lichtner p. Neurogenetics. 2012 May;13(2):181-7. doi: 10.1007/s10048-012-0316-y. Epub 2012 Mar 14. Neurogenetics. 2012. PMID: 22411505
The role of SCARB2 as susceptibility factor in Parkinson's disease.
Hopfner F, Schulte EC, Mollenhauer B, Bereznai B, Knauf F, Lichtner P, Zimprich A, Haubenberger D, Pirker W, Brücke T, Peters A, Gieger C, Kuhlenbäumer G, Trenkwalder C, Winkelmann J. Hopfner F, et al. Among authors: lichtner p. Mov Disord. 2013 Apr;28(4):538-40. doi: 10.1002/mds.25349. Epub 2013 Feb 13. Mov Disord. 2013. PMID: 23408458
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Müller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T. Zimprich A, et al. Among authors: lichtner p. Neuron. 2004 Nov 18;44(4):601-7. doi: 10.1016/j.neuron.2004.11.005. Neuron. 2004. PMID: 15541309 Free article.
SNCA: major genetic modifier of age at onset of Parkinson's disease.
Brockmann K, Schulte C, Hauser AK, Lichtner P, Huber H, Maetzler W, Berg D, Gasser T. Brockmann K, et al. Among authors: lichtner p. Mov Disord. 2013 Aug;28(9):1217-21. doi: 10.1002/mds.25469. Epub 2013 May 14. Mov Disord. 2013. PMID: 23674386
244 results