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Items: 1 to 20 of 149

1.

LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease.

Gan-Or Z, Bar-Shira A, Mirelman A, Gurevich T, Kedmi M, Giladi N, Orr-Urtreger A.

Neurogenetics. 2010 Feb;11(1):121-5. doi: 10.1007/s10048-009-0198-9.

PMID:
19458969
2.

Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.

Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, Marder K, Zhang X.

Brain. 2015 Sep;138(Pt 9):2648-58. doi: 10.1093/brain/awv179.

3.

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset.

Gan-Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, Bar-Shira A, Orr-Urtreger A.

Neurology. 2008 Jun 10;70(24):2277-83. doi: 10.1212/01.wnl.0000304039.11891.29.

PMID:
18434642
4.

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

Alcalay RN, Mirelman A, Saunders-Pullman R, Tang MX, Mejia Santana H, Raymond D, Roos E, Orbe-Reilly M, Gurevich T, Bar Shira A, Gana Weisz M, Yasinovsky K, Zalis M, Thaler A, Deik A, Barrett MJ, Cabassa J, Groves M, Hunt AL, Lubarr N, San Luciano M, Miravite J, Palmese C, Sachdev R, Sarva H, Severt L, Shanker V, Swan MC, Soto-Valencia J, Johannes B, Ortega R, Fahn S, Cote L, Waters C, Mazzoni P, Ford B, Louis E, Levy O, Rosado L, Ruiz D, Dorovski T, Pauciulo M, Nichols W, Orr-Urtreger A, Ozelius L, Clark L, Giladi N, Bressman S, Marder KS.

Mov Disord. 2013 Dec;28(14):1966-71. doi: 10.1002/mds.25647.

5.

The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?

Orr-Urtreger A, Shifrin C, Rozovski U, Rosner S, Bercovich D, Gurevich T, Yagev-More H, Bar-Shira A, Giladi N.

Neurology. 2007 Oct 16;69(16):1595-602.

PMID:
17938369
6.

Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism.

Eblan MJ, Scholz S, Stubblefield B, Gutti U, Goker-Alpan O, Hruska KS, Singleton AB, Sidransky E.

Neurosci Lett. 2006 Aug 14;404(1-2):163-5.

PMID:
16781064
7.

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Benitez BA, Davis AA, Jin SC, Ibanez L, Ortega-Cubero S, Pastor P, Choi J, Cooper B, Perlmutter JS, Cruchaga C.

Mol Neurodegener. 2016 Apr 19;11:29. doi: 10.1186/s13024-016-0097-0.

8.

The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews.

Dagan E, Schlesinger I, Ayoub M, Mory A, Nassar M, Kurolap A, Peretz-Aharon J, Gershoni-Baruch R.

Parkinsonism Relat Disord. 2015 Sep;21(9):1067-71. doi: 10.1016/j.parkreldis.2015.06.016.

PMID:
26169695
9.

Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor.

Clark LN, Kisselev S, Park N, Ross B, Verbitsky M, Rios E, Alcalay RN, Lee JH, Louis ED.

Parkinsonism Relat Disord. 2010 Feb;16(2):132-5. doi: 10.1016/j.parkreldis.2009.05.008.

10.

Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease.

Spitz M, Pereira JS, Nicareta DH, Abreu Gde M, Bastos EF, Seixas TL, Pimentel MM.

Parkinsonism Relat Disord. 2015 Jul;21(7):825-6. doi: 10.1016/j.parkreldis.2015.03.029. No abstract available.

PMID:
25952961
11.

Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China.

Mao XY, Burgunder JM, Zhang ZJ, An XK, Zhang JH, Yang Y, Li T, Wang YC, Chang XL, Peng R.

Neurosci Lett. 2010 Jan 22;469(2):256-9. doi: 10.1016/j.neulet.2009.12.007.

PMID:
20004703
12.

Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parkinson disease: a pooled analysis.

Agalliu I, San Luciano M, Mirelman A, Giladi N, Waro B, Aasly J, Inzelberg R, Hassin-Baer S, Friedman E, Ruiz-Martinez J, Marti-Masso JF, Orr-Urtreger A, Bressman S, Saunders-Pullman R.

JAMA Neurol. 2015 Jan;72(1):58-65. doi: 10.1001/jamaneurol.2014.1973.

13.

The LRRK2 G2019S mutation in a series of Argentinean patients with Parkinson's disease: clinical and demographic characteristics.

Gatto EM, Parisi V, Converso DP, Poderoso JJ, Carreras MC, Martí-Massó JF, Paisán-Ruiz C.

Neurosci Lett. 2013 Mar 14;537:1-5. doi: 10.1016/j.neulet.2013.01.011.

PMID:
23340200
14.

Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants.

Zhang L, Quadri M, Guedes LC, Coelho M, Valadas A, Mestre T, Lobo PP, Rosa MM, Simons E, Oostra BA, Ferreira JJ, Bonifati V.

Parkinsonism Relat Disord. 2013 Oct;19(10):897-900. doi: 10.1016/j.parkreldis.2013.05.003.

PMID:
23726462
15.

Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study.

Alcalay RN, Caccappolo E, Mejia-Santana H, Tang M-, Rosado L, Orbe Reilly M, Ruiz D, Ross B, Verbitsky M, Kisselev S, Louis E, Comella C, Colcher A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Payami H, Molho E, Factor S, Ottman R, Clark LN, Marder K.

Neurology. 2012 May 1;78(18):1434-40. doi: 10.1212/WNL.0b013e318253d54b.

16.

Dyskinesias in patients with Parkinson's disease: effect of the leucine-rich repeat kinase 2 (LRRK2) G2019S mutation.

Yahalom G, Kaplan N, Vituri A, Cohen OS, Inzelberg R, Kozlova E, Korczyn AD, Rosset S, Friedman E, Hassin-Baer S.

Parkinsonism Relat Disord. 2012 Nov;18(9):1039-41. doi: 10.1016/j.parkreldis.2012.05.014.

PMID:
22703868
17.

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.

Lesage S, Janin S, Lohmann E, Leutenegger AL, Leclere L, Viallet F, Pollak P, Durif F, Thobois S, Layet V, Vidailhet M, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group., Bonnet AM, Borg M, Broussolle E, Damier P, Destée A, Martinez M, Penet C, Rasco O, Tison F, Tranchan C, Vérin M.

Arch Neurol. 2007 Mar;64(3):425-30.

PMID:
17353388
18.

LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance.

Gaig C, Ezquerra M, Marti MJ, Muñoz E, Valldeoriola F, Tolosa E.

Arch Neurol. 2006 Mar;63(3):377-82.

PMID:
16533964
19.

Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium.

Marder K, Wang Y, Alcalay RN, Mejia-Santana H, Tang MX, Lee A, Raymond D, Mirelman A, Saunders-Pullman R, Clark L, Ozelius L, Orr-Urtreger A, Giladi N, Bressman S; LRRK2 Ashkenazi Jewish Consortium..

Neurology. 2015 Jul 7;85(1):89-95. doi: 10.1212/WNL.0000000000001708.

20.

Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease.

Alcalay RN, Mejia-Santana H, Tang MX, Rosado L, Verbitsky M, Kisselev S, Ross BM, Louis ED, Comella CL, Colcher A, Jennings D, Nance MA, Bressman S, Scott WK, Tanner C, Mickel SF, Andrews HF, Waters CH, Fahn S, Cote LJ, Frucht SJ, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Caccappolo E, Ottman R, Clark LN, Marder KS.

Arch Neurol. 2009 Dec;66(12):1517-22. doi: 10.1001/archneurol.2009.267.

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