RoyNissimAlcalayMD

PubMed

• The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.
  Jace Jones-Tabah, Kathy He, Konstantin Senkevich, Nathan Karpilovsky, Ghislaine Deyab, Yuting Cousineau, Daria Nikanorova, Taylor Goldsmith, Esther Del-Cid Pellitero, ...> ;Research Square. 2024 Mar 19
• Distinctive CD56NK subset profiles and increased NKG2D expression in blood NK cells of Parkinson's disease patients.
  Weber, S., Menees, K., Park, J., Lee, J., Agin-Liebes, J., Lin, C., Alcalay, R.> ;NPJ Parkinson's Disease. 2024 Feb 15
• GBA1-and LRRK2-directed Treatments: The Way Forward.
  Maayan Eshed, G., Alcalay, R.> ;Parkinsonism & Related Disorders. 2024 Feb 13
• PINK1 is a target of T cell responses in Parkinson's disease.
  Gregory P Williams, Tanner Michaelis, João Rodrigues Lima-Junior, April Frazier, Ngan K Tran, Elizabeth J Phillips, Simon A Mallal, Irene Litvan, Jennifer G Goldman, R...> ;Biorxiv. 2024 Feb 12
• 1 citations
  A potential patient stratification biomarker for Parkinson´s disease based on LRRK2 kinase-mediated centrosomal alterations in peripheral blood-derived cells.
  Naaldijk, Y., Fernández, B., Fasiczka, R., Fdez, E., Leghay, C., Croitoru, I., Kwok, J., Boulesnane, Y., Vizeneux, A., Mutez, E., Calvez, C., Destée, A., Taymans, J., ...> ;NPJ Parkinson's Disease. 2024 Jan 8
• 1 citations
  The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.
  Jones-Tabah, J., He, K., Senkevich, K., Karpilovsky, N., Deyab, G., Cousineau, Y., Nikanorova, D., Goldsmith, T., Del Cid Pellitero, E., Chen, C., Luo, W., You, Z., Ab...> ;Biorxiv. 2023 Nov 15
• 5 citations
  A blood-based marker of mitochondrial DNA damage in Parkinson's disease.
  Rui Qi, Esther Sammler, Claudia P Gonzalez-Hunt, Ivana Barraza, Nicholas Pena, Jeremy P Rouanet, Yahaira Naaldijk, Steven Goodson, Marie Fuzzati, Fabio Blandini, Kirk ...> ;Science Translational Medicine. 2023 Aug 30
• 6 citations
  Safety and efficacy of venglustat in GBA1-associated Parkinson's disease: an international, multicentre, double-blind, randomised, placebo-controlled, phase 2 trial.
  Nir Giladi, Roy N Alcalay, Gary Cutter, Thomas Gasser, Tanya Gurevich, Günter U Höglinger, Kenneth Marek, Claudio Pacchetti, Anthony H V Schapira, Clemens R Scherzer, ...> ;The Lancet. Neurology. 2023 Aug 1
• 1 citations
  Association of Rare Variants in ARSA with Parkinson's Disease.
  Konstantin Senkevich, Mariia Beletskaia, Aliza Dworkind, Eric Yu, Jamil Ahmad, Jennifer A Ruskey, Farnaz Asayesh, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Mon...> ;Movement Disorders. 2023 Oct 1
• 4 citations
  Genetic Testing in Parkinson's Disease.
  Gian Pal, Lola Cook, Jeanine Schulze, Jennifer Verbrugge, Roy N Alcalay, Marcelo Merello, Carolyn M Sue, Soraya Bardien, Vincenzo Bonifati, Sun Ju Chung, Tatiana Forou...> ;Movement Disorders. 2023 Aug 1
• 2 citations
  International Genetic Testing and Counseling Practices for Parkinson's Disease.
  Rachel Saunders-Pullman, Deborah Raymond, Roberto A Ortega, Ali Shalash, Emilia Gatto, Mehri Salari, Maggie Markgraf, Roy N Alcalay, Deborah Mascalzoni, Niccolò E Menc...> ;Movement Disorders. 2023 Aug 1
• 3 citations
  Providing genetic testing and genetic counseling for Parkinson's disease to the community.
  Lola Cook, Jennifer Verbrugge, Tae-Hwi Schwantes-An, Jeanine Schulze, James C Beck, Anna Naito, Anne Hall, Amanda K Chan, Cynthia J Casaceli, Karen Marder, Martha Nanc...> ;Genetics in Medicine. 2023 Oct 1
• 1 citations
  Patterns of TDP-43 Deposition in Brains with LRRK2 G2019S Mutations.
  Julian Agin-Liebes, Richard A Hickman, Jean Paul Vonsattel, Phyllis L Faust, Xena Flowers, Irina Utkina Sosunova, Joel Ntiri, Richard Mayeux, Matthew Surface, Karen Ma...> ;Movement Disorders. 2023 Aug 1
• 1 citations
  Novel variants in genes related to vesicle-mediated-transport modify Parkinson's disease risk.
  Orly Goldstein, Mali Gana-Weisz, Sandro Banfi, Vincenzo Nigro, Anat Bar-Shira, Avner Thaler, Tanya Gurevich, Anat Mirelman, Nir Giladi, Roy N Alcalay, Avi Orr-Urtreger> ;Molecular Genetics and Metabolism. 2023 Jun 1
• Enough vs. More: Neuropsychological testing is more useful than genetic testing in the baseline evaluation of Parkinson disease.
  Michele K York, Roy N Alcalay> ;Parkinsonism & Related Disorders. 2023 Jun 1
• 10 citations
  Quantitative proteomics and phosphoproteomics of urinary extracellular vesicles define putative diagnostic biosignatures for Parkinson's disease.
  Marco Hadisurya, Li Li, Kananart Kuwaranancharoen, Xiaofeng Wu, Zheng-Chi Lee, Roy N Alcalay, Shalini Padmanabhan, W Andy Tao, Anton Iliuk> ;Communications Medicine. 2023 May 10
• 77 citations
  Assessment of heterogeneity among participants in the Parkinson's Progression Markers Initiative cohort using α-synuclein seed amplification: a cross-sectional study.
  Andrew Siderowf, Luis Concha-Marambio, David-Erick Lafontant, Carly M Farris, Yihua Ma, Paula A Urenia, Hieu Nguyen, Roy N Alcalay, Lana M Chahine, Tatiana Foroud, Dou...> ;The Lancet. Neurology. 2023 May 1
• Variants in PSMB9 and FGR differentially affect Parkinson's disease risk in GBA and LRRK2 mutation carriers.
  Shachar Shani, Orly Goldstein, Mali Gana-Weisz, Anat Bar-Shira, Avner Thaler, Tanya Gurevich, Anat Mirelman, Nir Giladi, Roy N Alcalay, Avi Orr-Urtreger> ;Parkinsonism & Related Disorders. 2023 Jun 1
• 7 citations
  Toward a biomarker panel measured in CNS-originating extracellular vesicles for improved differential diagnosis of Parkinson's disease and multiple system atrophy.
  Hash Brown Taha, Simon Hornung, Suman Dutta, Leony Fenwick, Otmane Lahgui, Kathryn Howe, Nour Elabed, Irish Del Rosario, Darice Y Wong, Aline Duarte Folle, Daniela Mar...> ;Translational Neurodegeneration. 2023 Mar 20
• 2 citations
  Association of rare variants inwith Parkinson's disease.
  Konstantin Senkevich, Mariia Beletskaia, Aliza Dworkind, Eric Yu, Jamil Ahmad, Jennifer A Ruskey, Farnaz Asayesh, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Mon...> ;Medrxiv. 2023 Mar 13
• 5 citations
  Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease.
  Cornelis Blauwendraat, Nahid Tayebi, Elizabeth Geena Woo, Grisel Lopez, Luca Fierro, Marco Toffoli, Naomi Limbachiya, Derralynn Hughes, Vanessa Pitz, Dhairya Patel, Da...> ;Movement Disorders. 2023 May 1
• 4 citations
  LRRK2 and GBA1 variant carriers have higher urinary bis(monacylglycerol) phosphate concentrations in PPMI cohorts.
  Kalpana M Merchant, Tanya Simuni, Janel Fedler, Chelsea Caspell-Garcia, Michael Brumm, Kelly N H Nudelman, Elizabeth Tengstrandt, Frank Hsieh, Roy N Alcalay, Christoph...> ;NPJ Parkinson's Disease. 2023 Feb 28
• 13 citations
  Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
  Eva-Juliane Vollstedt, Susen Schaake, Katja Lohmann, Shalini Padmanabhan, Alexis Brice, Suzanne Lesage, Christelle Tesson, Marie Vidailhet, Isabel Wurster, Faycel Hent...> ;Movement Disorders. 2023 Feb 1
• Challenges in the study of individuals at risk for Parkinson disease.
  Connie Marras, Roy N Alcalay, Andrew Siderowf, Ronald B Postuma> ;Handbook of Clinical Neurology. 2023 Jan 1
• Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's D...
  Eva-Juliane Vollstedt, Harutyun Madoev, Anna Aasly, Azlina Ahmad-Annuar, Bashayer Al-Mubarak, Roy N Alcalay, Victoria Alvarez, Ignacio Amorin, Grazia Annesi, David Ark...> ;Plos One. 2023 Jan 1
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Journal Articles

• Case Report Corticobasal Syndrome in a Man with Gaucher Disease Type 1: Expansion of the Understanding of the Neurological Spectrum  
  Priya S Kishnani, Jeffrey W Cooney, Roy N Alcalay, Stephanie M DeArmey, ScienceDirect
• Common and Rare GCH1 Variants Are Associated with Parkinson's Disease  
  Roy N. Alcalay, Stanley Fahn, Cheryl Waters, ScienceDirect