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Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.
J Clin Neurosci. 2016 Jun;28:185-6. doi: 10.1016/j.jocn.2015.12.004. Epub 2016 Feb 5.
J Clin Neurosci. 2016.
PMID: 26857292
Free PMC article.
Neuropsychiatric characteristics of GBA-associated Parkinson disease.
Swan M, Doan N, Ortega RA, Barrett M, Nichols W, Ozelius L, Soto-Valencia J, Boschung S, Deik A, Sarva H, Cabassa J, Johannes B, Raymond D, Marder K, Giladi N, Miravite J, Severt W, Sachdev R, Shanker V, Bressman S, Saunders-Pullman R.
Swan M, et al.
J Neurol Sci. 2016 Nov 15;370:63-69. doi: 10.1016/j.jns.2016.08.059. Epub 2016 Aug 30.
J Neurol Sci. 2016.
PMID: 27772789
Free PMC article.
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Progression in the LRRK2-Asssociated Parkinson Disease Population.
Saunders-Pullman R, Mirelman A, Alcalay RN, Wang C, Ortega RA, Raymond D, Mejia-Santana H, Orbe-Reilly M, Johannes BA, Thaler A, Ozelius L, Orr-Urtreger A, Marder KS, Giladi N, Bressman SB; LRRK2 Ashkenazi Jewish Consortium.
Saunders-Pullman R, et al. Among authors: johannes ba.
JAMA Neurol. 2018 Mar 1;75(3):312-319. doi: 10.1001/jamaneurol.2017.4019.
JAMA Neurol. 2018.
PMID: 29309488
Free PMC article.
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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.
Alcalay RN, et al.
Mov Disord. 2013 Dec;28(14):1966-71. doi: 10.1002/mds.25647. Epub 2013 Oct 15.
Mov Disord. 2013.
PMID: 24243757
Free PMC article.
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REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers.
Saunders-Pullman R, Alcalay RN, Mirelman A, Wang C, Luciano MS, Ortega RA, Glickman A, Raymond D, Mejia-Santana H, Doan N, Johannes B, Yasinovsky K, Ozelius L, Clark L, Orr-Utreger A, Marder K, Giladi N, Bressman SB; AJ LRRK2 Consortium.
Saunders-Pullman R, et al.
Mov Disord. 2015 Nov;30(13):1834-9. doi: 10.1002/mds.26413. Epub 2015 Sep 14.
Mov Disord. 2015.
PMID: 26366513
Free PMC article.
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Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance.
San Luciano M, Tanner CM, Meng C, Marras C, Goldman SM, Lang AE, Tolosa E, Schüle B, Langston JW, Brice A, Corvol JC, Goldwurm S, Klein C, Brockman S, Berg D, Brockmann K, Ferreira JJ, Tazir M, Mellick GD, Sue CM, Hasegawa K, Tan EK, Bressman S, Saunders-Pullman R; Michael J. Fox Foundation LRRK2 Cohort Consortium.
San Luciano M, et al.
Mov Disord. 2020 Oct;35(10):1755-1764. doi: 10.1002/mds.28189. Epub 2020 Jul 14.
Mov Disord. 2020.
PMID: 32662532
Free PMC article.
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Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.
Deik A, Johannes B, Rucker JC, Sánchez E, Brodie SE, Deegan E, Landy K, Kajiwara Y, Scelsa S, Saunders-Pullman R, Paisán-Ruiz C.
Deik A, et al.
J Neurol. 2014 Dec;261(12):2411-23. doi: 10.1007/s00415-014-7516-3. Epub 2014 Sep 30.
J Neurol. 2014.
PMID: 25267340
Free PMC article.
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