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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. Wolf P, et al. Mol Genet Metab. 2018 Feb;123(2):135-139. doi: 10.1016/j.ymgme.2017.10.011. Epub 2017 Oct 23. Mol Genet Metab. 2018. PMID: 29100779 Free PMC article.
False-positive results using a Gaucher diagnostic kit--RecTL and N370S.
Choi JH, Velayati A, Stubblefield BK, Orr-Urtreger A, Gan-Or Z, Tayebi N, Sidransky E. Choi JH, et al. Mol Genet Metab. 2010 May;100(1):100-2. doi: 10.1016/j.ymgme.2009.12.017. Epub 2010 Jan 4. Mol Genet Metab. 2010. PMID: 20096616 Free PMC article.
Genetic markers of Restless Legs Syndrome in Parkinson disease.
Gan-Or Z, Alcalay RN, Bar-Shira A, Leblond CS, Postuma RB, Ben-Shachar S, Waters C, Johnson A, Levy O, Mirelman A, Gana-Weisz M, Dupré N, Montplaisir J, Giladi N, Fahn S, Xiong L, Dion PA, Orr-Urtreger A, Rouleau GA. Gan-Or Z, et al. Parkinsonism Relat Disord. 2015 Jun;21(6):582-5. doi: 10.1016/j.parkreldis.2015.03.010. Epub 2015 Mar 17. Parkinsonism Relat Disord. 2015. PMID: 25817513 Free PMC article.
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. Alcalay RN, et al. Brain. 2015 Sep;138(Pt 9):2648-58. doi: 10.1093/brain/awv179. Epub 2015 Jun 27. Brain. 2015. PMID: 26117366 Free PMC article.
GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.
Gan-Or Z, Mirelman A, Postuma RB, Arnulf I, Bar-Shira A, Dauvilliers Y, Desautels A, Gagnon JF, Leblond CS, Frauscher B, Alcalay RN, Saunders-Pullman R, Bressman SB, Marder K, Monaca C, Högl B, Orr-Urtreger A, Dion PA, Montplaisir JY, Giladi N, Rouleau GA. Gan-Or Z, et al. Ann Clin Transl Neurol. 2015 Sep;2(9):941-5. doi: 10.1002/acn3.228. Epub 2015 Jul 31. Ann Clin Transl Neurol. 2015. PMID: 26401515 Free PMC article.
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. Alcalay RN, et al. NPJ Parkinsons Dis. 2016;2:16004-. doi: 10.1038/npjparkd.2016.4. Epub 2016 Mar 10. NPJ Parkinsons Dis. 2016. PMID: 27110593 Free PMC article.
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. Gan-Or Z, et al. Neurobiol Aging. 2016 Jul;43:180.e7-180.e13. doi: 10.1016/j.neurobiolaging.2016.03.029. Epub 2016 Apr 6. Neurobiol Aging. 2016. PMID: 27131830 Free PMC article.
Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease.
Pal GD, Hall D, Ouyang B, Phelps J, Alcalay R, Pauciulo MW, Nichols WC, Clark L, Mejia-Santana H, Blasucci L, Goetz CG, Comella C, Colcher A, Gan-Or Z, Rouleau GA, Marder K; Consortium on Risk for Early Onset Parkinson's Disease (CORE-PD) Investigators. Pal GD, et al. Mov Disord Clin Pract. 2016 Sep-Oct;3(5):465-471. doi: 10.1002/mdc3.12309. Epub 2016 Jan 18. Mov Disord Clin Pract. 2016. PMID: 27709117 Free PMC article.
221 results