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Movement disorders rounds: A case of missing pathology in a patient with LRRK2 Parkinson's disease.

Agin-Liebes J, Cortes E, Vonsattel JP, Marder K, Alcalay RN.

Parkinsonism Relat Disord. 2019 Nov 9. pii: S1353-8020(19)30478-X. doi: 10.1016/j.parkreldis.2019.11.006. [Epub ahead of print] No abstract available.


Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists.

Alcalay RN, Kehoe C, Shorr E, Battista R, Hall A, Simuni T, Marder K, Wills AM, Naito A, Beck JC, Schwarzschild MA, Nance M.

Genet Med. 2019 Nov 4. doi: 10.1038/s41436-019-0684-x. [Epub ahead of print]


Knowledge and attitudes of Parkinson's disease risk in the Gaucher population.

Zaretsky L, Zeid N, Naik H, Alcalay RN, Balwani M.

J Genet Couns. 2019 Oct 30. doi: 10.1002/jgc4.1185. [Epub ahead of print]


Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.

Krohn L, Öztürk TN, Vanderperre B, Ouled Amar Bencheikh B, Ruskey JA, Laurent SB, Spiegelman D, Postuma RB, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Rudakou U, Cochen De Cock V, Young P, Wolf P, Oliva P, Zhang XK, Greenbaum L, Liong C, Gagnon JF, Desautels A, Hassin-Baer S, Montplaisir JY, Dupré N, Rouleau GA, Fon EA, Trempe JF, Lamoureux G, Alcalay RN, Gan-Or Z.

Ann Neurol. 2019 Oct 28. doi: 10.1002/ana.25629. [Epub ahead of print]


Higher Urine bis(Monoacylglycerol)Phosphate Levels in LRRK2 G2019S Mutation Carriers: Implications for Therapeutic Development.

Alcalay RN, Hsieh F, Tengstrand E, Padmanabhan S, Baptista M, Kehoe C, Narayan S, Boehme AK, Merchant K.

Mov Disord. 2019 Sep 10. doi: 10.1002/mds.27818. [Epub ahead of print]


Cancer outcomes among Parkinson's disease patients with leucine rich repeat kinase 2 mutations, idiopathic Parkinson's disease patients, and nonaffected controls.

Agalliu I, Ortega RA, Luciano MS, Mirelman A, Pont-Sunyer C, Brockmann K, Vilas D, Tolosa E, Berg D, Warø B, Glickman A, Raymond D, Inzelberg R, Ruiz-Martinez J, Mondragon E, Friedman E, Hassin-Baer S, Alcalay RN, Mejia-Santana H, Aasly J, Foroud T, Marder K, Giladi N, Bressman S, Saunders-Pullman R.

Mov Disord. 2019 Sep;34(9):1392-1398. doi: 10.1002/mds.27807. Epub 2019 Jul 26.


Motor phenotype classification in moderate to advanced PD in BioFIND study.

Luo L, Andrews H, Alcalay RN, Poyraz FC, Boehme AK, Goldman JG, Xie T, Tuite P, Henchcliffe C, Hogarth P, Amara AW, Frank S, Sutherland M, Kopil C, Naito A, Kang UJ.

Parkinsonism Relat Disord. 2019 Aug;65:178-183. doi: 10.1016/j.parkreldis.2019.06.017. Epub 2019 Jun 23.


Widespread Tau-Specific CD4 T Cell Reactivity in the General Population.

Lindestam Arlehamn CS, Pham J, Alcalay RN, Frazier A, Shorr E, Carpenter C, Sidney J, Dhanwani R, Agin-Liebes J, Garretti F, Amara AW, Standaert DG, Phillips EJ, Mallal SA, Peters B, Sulzer D, Sette A.

J Immunol. 2019 Jul 1;203(1):84-92. doi: 10.4049/jimmunol.1801506. Epub 2019 May 13.


SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.

Alcalay RN, Mallett V, Vanderperre B, Tavassoly O, Dauvilliers Y, Wu RYJ, Ruskey JA, Leblond CS, Ambalavanan A, Laurent SB, Spiegelman D, Dionne-Laporte A, Liong C, Levy OA, Fahn S, Waters C, Kuo SH, Chung WK, Ford B, Marder KS, Kang UJ, Hassin-Baer S, Greenbaum L, Trempe JF, Wolf P, Oliva P, Zhang XK, Clark LN, Langlois M, Dion PA, Fon EA, Dupre N, Rouleau GA, Gan-Or Z.

Mov Disord. 2019 Apr;34(4):526-535. doi: 10.1002/mds.27642. Epub 2019 Feb 20.


Evidence for increased completed suicide in first-degree relatives of LRRK2 G2019S mutation Parkinson's disease.

Ortega RA, Groves M, Mirelman A, Alcalay RN, Raymond D, Elango S, Mejia-Santana H, Giladi N, Marder K, Bressman SB, Saunders-Pullman R.

J Neurol Neurosurg Psychiatry. 2019 Jul;90(7):843-844. doi: 10.1136/jnnp-2018-319364. Epub 2018 Nov 8. No abstract available.


Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.

Potnis KC, Flueckinger LB, DeArmey SM, Alcalay RN, Cooney JW, Kishnani PS.

Mol Genet Metab Rep. 2018 Oct 18;17:69-72. doi: 10.1016/j.ymgmr.2018.10.001. eCollection 2018 Dec.


Common and rare GCH1 variants are associated with Parkinson's disease.

Rudakou U, Ouled Amar Bencheikh B, Ruskey JA, Krohn L, Laurent SB, Spiegelman D, Liong C, Fahn S, Waters C, Monchi O, Fon EA, Dauvilliers Y, Alcalay RN, Dupré N, Gan-Or Z.

Neurobiol Aging. 2019 Jan;73:231.e1-231.e6. doi: 10.1016/j.neurobiolaging.2018.09.008. Epub 2018 Sep 15.


Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.

Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC).

JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885.


Sequencing of the GBA coactivator, Saposin C, in Parkinson disease.

Ouled Amar Bencheikh B, Leveille E, Ruskey JA, Spiegelman D, Liong C, Fon EA, Rouleau GA, Dauvilliers Y, Dupre N, Alcalay RN, Gan-Or Z.

Neurobiol Aging. 2018 Dec;72:187.e1-187.e3. doi: 10.1016/j.neurobiolaging.2018.06.034. Epub 2018 Jul 2.


Association of Low Lysosomal Enzymes Activity With Brain Arterial Dilatation.

Shah H, Liong C, Levy OA, Waters C, Fahn S, Marder K, Kang UJ, Wolf P, Oliva P, Zhang K, Alcalay RN, Gutierrez J.

Stroke. 2018 Aug;49(8):1977-1980. doi: 10.1161/STROKEAHA.118.021964.


GBA-Associated Parkinson's Disease and Other Synucleinopathies.

Gan-Or Z, Liong C, Alcalay RN.

Curr Neurol Neurosci Rep. 2018 Jun 8;18(8):44. doi: 10.1007/s11910-018-0860-4. Review.


Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease.

Ruskey JA, Greenbaum L, Roncière L, Alam A, Spiegelman D, Liong C, Levy OA, Waters C, Fahn S, Marder KS, Chung W, Yahalom G, Israeli-Korn S, Livneh V, Fay-Karmon T, Alcalay RN, Hassin-Baer S, Gan-Or Z.

Eur J Med Genet. 2019 Jan;62(1):65-69. doi: 10.1016/j.ejmg.2018.05.005. Epub 2018 May 26.


Application of the Movement Disorder Society prodromal criteria in healthy G2019S-LRRK2 carriers.

Mirelman A, Saunders-Pullman R, Alcalay RN, Shustak S, Thaler A, Gurevich T, Raymond D, Mejia-Santana H, Orbe Reilly M, Ozelius L, Clark L, Gana-Weisz M, Bar-Shira A, Orr-Utreger A, Bressman SB, Marder K, Giladi N; AJ LRRK2 Consortium.

Mov Disord. 2018 Jul;33(6):966-973. doi: 10.1002/mds.27342. Epub 2018 Mar 30.


Sleep disorders and Parkinson disease; lessons from genetics.

Gan-Or Z, Alcalay RN, Rouleau GA, Postuma RB.

Sleep Med Rev. 2018 Oct;41:101-112. doi: 10.1016/j.smrv.2018.01.006. Epub 2018 Jan 31. Review.


Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.

Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, Schulte C; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hernandez D, Singleton AB, Nalls MA, Brice A, Scholz SW, Wood NW.

Neurobiol Aging. 2018 Apr;64:159.e5-159.e8. doi: 10.1016/j.neurobiolaging.2017.12.012. Epub 2017 Dec 20.


Alpha galactosidase A activity in Parkinson's disease.

Alcalay RN, Wolf P, Levy OA, Kang UJ, Waters C, Fahn S, Ford B, Kuo SH, Vanegas N, Shah H, Liong C, Narayan S, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Oliva P, Keutzer J, Marder K, Zhang XK.

Neurobiol Dis. 2018 Apr;112:85-90. doi: 10.1016/j.nbd.2018.01.012. Epub 2018 Feb 2.


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.

JAMA Neurol. 2018 Mar 1;75(3):312-319. doi: 10.1001/jamaneurol.2017.4019. Erratum in: JAMA Neurol. 2018 Jun 1;75(6):763.


Cerebrospinal fluid, plasma, and saliva in the BioFIND study: Relationships among biomarkers and Parkinson's disease Features.

Goldman JG, Andrews H, Amara A, Naito A, Alcalay RN, Shaw LM, Taylor P, Xie T, Tuite P, Henchcliffe C, Hogarth P, Frank S, Saint-Hilaire MH, Frasier M, Arnedo V, Reimer AN, Sutherland M, Swanson-Fischer C, Gwinn K; Fox Investigation of New Biomarker Discovery, Kang UJ.

Mov Disord. 2018 Feb;33(2):282-288. doi: 10.1002/mds.27232. Epub 2017 Dec 4.


Parkinson's disease prevalence in Fabry disease: A survey study.

Wise AH, Yang A, Naik H, Stauffer C, Zeid N, Liong C, Balwani M, Desnick RJ, Alcalay RN.

Mol Genet Metab Rep. 2017 Nov 9;14:27-30. doi: 10.1016/j.ymgmr.2017.10.013. eCollection 2018 Mar.


Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Schneider SA, Alcalay RN.

Mov Disord. 2017 Nov;32(11):1504-1523. doi: 10.1002/mds.27193. Review.


Clinical and neuropathological features of progressive supranuclear palsy in Leucine rich repeat kinase (LRRK2) G2019S mutation carriers.

Vilas D, Sharp M, Gelpi E, Genís D, Marder KS, Cortes E, Vonsattel JP, Tolosa E, Alcalay RN.

Mov Disord. 2018 Feb;33(2):335-338. doi: 10.1002/mds.27225. Epub 2017 Nov 9. No abstract available.


Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.

Wolf P, Alcalay RN, Liong C, Cullen E, Pauciulo MW, Nichols WC, Gan-Or Z, Chung WK, Faulkner T, Bentis C, Pomponio RJ, Ma X, Kate Zhang X, Keutzer JM, Oliva P.

Mol Genet Metab. 2018 Feb;123(2):135-139. doi: 10.1016/j.ymgme.2017.10.011. Epub 2017 Oct 23.


Frequency of GBA variants in autopsy-proven multiple system atrophy.

Sklerov M, Kang UJ, Liong C, Clark L, Marder K, Pauciulo M, Nichols WC, Chung WK, Honig LS, Cortes E, Vonsattel JP, Alcalay RN.

Mov Disord Clin Pract. 2017 Jul-Aug;4(4):574-581. doi: 10.1002/mdc3.12481. Epub 2017 Apr 3.


Patients' Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers.

Mulhern M, Bier L, Alcalay RN, Balwani M.

J Genet Couns. 2018 Jun;27(3):675-680. doi: 10.1007/s10897-017-0161-0. Epub 2017 Sep 30.


Erratum: T cells from patients with Parkinson's disease recognize α-synuclein peptides.

Sulzer D, Alcalay RN, Garretti F, Cote L, Kanter E, Agin-Liebes J, Liong C, McMurtrey C, Hildebrand WH, Mao X, Dawson VL, Dawson TM, Oseroff C, Pham J, Sidney J, Dillon MB, Carpenter C, Weiskopf D, Phillips E, Mallal S, Peters B, Frazier A, Arlehamn CSL, Sette A.

Nature. 2017 Sep 13;549(7671):292. doi: 10.1038/nature23896.


Serum lipid alterations in GBA-associated Parkinson's disease.

Guedes LC, Chan RB, Gomes MA, Conceição VA, Machado RB, Soares T, Xu Y, Gaspar P, Carriço JA, Alcalay RN, Ferreira JJ, Outeiro TF, Miltenberger-Miltenyi G.

Parkinsonism Relat Disord. 2017 Nov;44:58-65. doi: 10.1016/j.parkreldis.2017.08.026. Epub 2017 Sep 1.


Estimation of genetic risk function with covariates in the presence of missing genotypes.

Lee AJ, Marder K, Alcalay RN, Mejia-Santana H, Orr-Urtreger A, Giladi N, Bressman S, Wang Y.

Stat Med. 2017 Sep 30;36(22):3533-3546. doi: 10.1002/sim.7376. Epub 2017 Jun 27.


Parkinson's disease biomarkers: perspective from the NINDS Parkinson's Disease Biomarkers Program.

Gwinn K, David KK, Swanson-Fischer C, Albin R, Hillaire-Clarke CS, Sieber BA, Lungu C, Bowman FD, Alcalay RN, Babcock D, Dawson TM, Dewey RB Jr, Foroud T, German D, Huang X, Petyuk V, Potashkin JA, Saunders-Pullman R, Sutherland M, Walt DR, West AB, Zhang J, Chen-Plotkin A, Scherzer CR, Vaillancourt DE, Rosenthal LS.

Biomark Med. 2017 May;11(6):451-473. doi: 10.2217/bmm-2016-0370. Epub 2017 Jun 23.


Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.

Lee AJ, Wang Y, Alcalay RN, Mejia-Santana H, Saunders-Pullman R, Bressman S, Corvol JC, Brice A, Lesage S, Mangone G, Tolosa E, Pont-Sunyer C, Vilas D, Schüle B, Kausar F, Foroud T, Berg D, Brockmann K, Goldwurm S, Siri C, Asselta R, Ruiz-Martinez J, Mondragón E, Marras C, Ghate T, Giladi N, Mirelman A, Marder K; Michael J. Fox LRRK2 Cohort Consortium.

Mov Disord. 2017 Oct;32(10):1432-1438. doi: 10.1002/mds.27059. Epub 2017 Jun 22.


T cells from patients with Parkinson's disease recognize α-synuclein peptides.

Sulzer D, Alcalay RN, Garretti F, Cote L, Kanter E, Agin-Liebes J, Liong C, McMurtrey C, Hildebrand WH, Mao X, Dawson VL, Dawson TM, Oseroff C, Pham J, Sidney J, Dillon MB, Carpenter C, Weiskopf D, Phillips E, Mallal S, Peters B, Frazier A, Lindestam Arlehamn CS, Sette A.

Nature. 2017 Jun 29;546(7660):656-661. doi: 10.1038/nature22815. Epub 2017 Jun 21. Erratum in: Nature. 2017 Sep 13;549(7671):292.


Genetic Forms of Parkinson's Disease.

Kim CY, Alcalay RN.

Semin Neurol. 2017 Apr;37(2):135-146. doi: 10.1055/s-0037-1601567. Epub 2017 May 16. Review.


The prodromal phase of leucine-rich repeat kinase 2-associated Parkinson disease: Clinical and imaging Studies.

Pont-Sunyer C, Tolosa E, Caspell-Garcia C, Coffey C, Alcalay RN, Chan P, Duda JE, Facheris M, Fernández-Santiago R, Marek K, Lomeña F, Marras C, Mondragon E, Saunders-Pullman R, Waro B; LRRK2 Cohort Consortium.

Mov Disord. 2017 May;32(5):726-738. doi: 10.1002/mds.26964. Epub 2017 Mar 28.


Clinical Features of LRRK2 Carriers with Parkinson's Disease.

Kestenbaum M, Alcalay RN.

Adv Neurobiol. 2017;14:31-48. doi: 10.1007/978-3-319-49969-7_2. Review.


Elevated GM3 plasma concentration in idiopathic Parkinson's disease: A lipidomic analysis.

Chan RB, Perotte AJ, Zhou B, Liong C, Shorr EJ, Marder KS, Kang UJ, Waters CH, Levy OA, Xu Y, Shim HB, Pe'er I, Di Paolo G, Alcalay RN.

PLoS One. 2017 Feb 17;12(2):e0172348. doi: 10.1371/journal.pone.0172348. eCollection 2017.


Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations.

Arkadir D, Dinur T, Mullin S, Mehta A, Baris HN, Alcalay RN, Zimran A.

Blood Cells Mol Dis. 2018 Feb;68:115-116. doi: 10.1016/j.bcmd.2016.11.007. Epub 2016 Nov 12.


Cytokines as Potential Biomarkers of Parkinson Disease.

Alcalay RN.

JAMA Neurol. 2016 Nov 1;73(11):1282-1284. doi: 10.1001/jamaneurol.2016.3335. No abstract available.


GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.

Mallett V, Ross JP, Alcalay RN, Ambalavanan A, Sidransky E, Dion PA, Rouleau GA, Gan-Or Z.

Neurol Genet. 2016 Sep 8;2(5):e104. doi: 10.1212/NXG.0000000000000104. eCollection 2016 Oct.


Arm swing as a potential new prodromal marker of Parkinson's disease.

Mirelman A, Bernad-Elazari H, Thaler A, Giladi-Yacobi E, Gurevich T, Gana-Weisz M, Saunders-Pullman R, Raymond D, Doan N, Bressman SB, Marder KS, Alcalay RN, Rao AK, Berg D, Brockmann K, Aasly J, Waro BJ, Tolosa E, Vilas D, Pont-Sunyer C, Orr-Urtreger A, Hausdorff JM, Giladi N.

Mov Disord. 2016 Oct;31(10):1527-1534. doi: 10.1002/mds.26720.


Ser(P)-1292 LRRK2 in urinary exosomes is elevated in idiopathic Parkinson's disease.

Fraser KB, Rawlins AB, Clark RG, Alcalay RN, Standaert DG, Liu N; Parkinson's Disease Biomarker Program Consortium, West AB.

Mov Disord. 2016 Oct;31(10):1543-1550. doi: 10.1002/mds.26686.


Essential tremor-Parkinson's disease: A double whammy.

Louis ED, Wise A, Alcalay RN, Rao AK, Factor-Litvak P.

J Neurol Sci. 2016 Jul 15;366:47-51. doi: 10.1016/j.jns.2016.04.040. Epub 2016 Apr 23.


The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.

Gan-Or Z, Mohsin N, Girard SL, Montplaisir JY, Ambalavanan A, Strong S, Mallett V, Laurent SB, Bourassa CV, Boivin M, Langlois M, Arnulf I, Högl B, Frauscher B, Monaca C, Desautels A, Gagnon JF, Postuma RB, Dion PA, Dauvilliers Y, Dupre N, Alcalay RN, Rouleau GA.

Neurobiol Aging. 2016 Jul;43:180.e7-180.e13. doi: 10.1016/j.neurobiolaging.2016.03.029. Epub 2016 Apr 6.


The BioFIND study: Characteristics of a clinically typical Parkinson's disease biomarker cohort.

Kang UJ, Goldman JG, Alcalay RN, Xie T, Tuite P, Henchcliffe C, Hogarth P, Amara AW, Frank S, Rudolph A, Casaceli C, Andrews H, Gwinn K, Sutherland M, Kopil C, Vincent L, Frasier M.

Mov Disord. 2016 Jun;31(6):924-32. doi: 10.1002/mds.26613. Epub 2016 Apr 26.


SCARB2 variants and glucocerebrosidase activity in Parkinson's disease.

Alcalay RN, Levy OA, Wolf P, Oliva P, Zhang XK, Waters CH, Fahn S, Kang U, Liong C, Ford B, Mazzoni P, Kuo S, Johnson A, Xiong L, Rouleau GA, Chung W, Marder KS, Gan-Or Z.

NPJ Parkinsons Dis. 2016;2. pii: 16004. Epub 2016 Mar 10.


The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease.

Robakis D, Cortes E, Clark LN, Vonsattel JP, Virmani T, Alcalay RN, Crary JF, Levy OA.

J Neural Transm (Vienna). 2016 Jun;123(6):583-8. doi: 10.1007/s00702-016-1552-3. Epub 2016 Apr 20.

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