Hasil Pencarian - Rachel Saunders-Pullman

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  1. 1
    A‐TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early‐onset dystonia, cancer, and life‐threatening radiotoxicity

    A‐TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early‐onset dystonia, cancer, and life‐threatening rad... oleh Kotoka Nakamura, Francesca Fike, Sara Haghayegh, Rachel Saunders‐Pullman, Angelika J. Dawson, Thilo Dörk, Richard A. Gatti

    Diterbitkan 2014-07-01
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  2. 2
    Spatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers

    Spatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers oleh Andres F. Deik, Sean O'Riordan, Marta San Luciano, Vicki L. Shanker, Deborah Raymond, Susan B. Bressman, Rachel Saunders-Pullman

    Diterbitkan 2012-09-01
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  3. 3
    Differences in performance on English and Hebrew versions of the MoCA in Parkinson's patients

    Differences in performance on English and Hebrew versions of the MoCA in Parkinson's patients oleh Yaqian Xu, Anat Mirelman, Rachel Saunders-Pullman, Helen Mejia-Santana, Elise Caccappolo, Deborah Raymond, Nir Giladi, Susan Bressman, Karen Marder, Roy N. Alcalay

    Diterbitkan 2020-01-01
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  4. 4
    Multiple sclerosis in LRRK2 G2019S Parkinson’s disease and isolated nigral degeneration in a homozygous variant carrier

    Multiple sclerosis in LRRK2 G2019S Parkinson’s disease and isolated nigral degeneration in a homozygous variant carrier oleh Adina Wise, Adina Wise, Roberto A. Ortega, Roberto A. Ortega, Deborah Raymond, Deborah Raymond, Alessandra Cervera, Alessandra Cervera, Alessandra Cervera, Emma Thorn, Emma Thorn, Emma Thorn, Katherine Leaver, Katherine Leaver, David S. Russell, Susan B. Bressman, Susan B. Bressman, John F. Crary, John F. Crary, John F. Crary, Rachel Saunders-Pullman, Rachel Saunders-Pullman

    Diterbitkan 2024-08-01
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  5. 5
    Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease

    Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease oleh Jinlong Jian, Yuehong Chen, Rossella Liberti, Wenyu Fu, Wenhuo Hu, Rachel Saunders-Pullman, Gregory M. Pastores, Ying Chen, Ying Sun, Gregory A. Grabowski, Chuan-ju Liu

    Diterbitkan 2018-02-01
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  6. 6
    Digitized Spiral Drawing: A Possible Biomarker for Early Parkinson's Disease.

    Digitized Spiral Drawing: A Possible Biomarker for Early Parkinson's Disease. oleh Marta San Luciano, Cuiling Wang, Roberto A Ortega, Qiping Yu, Sarah Boschung, Jeannie Soto-Valencia, Susan B Bressman, Richard B Lipton, Seth Pullman, Rachel Saunders-Pullman

    Diterbitkan 2016-01-01
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  7. 7
    Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers

    Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers oleh Eileen E. Moran, Eileen E. Moran, Susan B. Bressman, Susan B. Bressman, Roberto A. Ortega, Roberto A. Ortega, Deborah Raymond, Deborah Raymond, William C. Nichols, Christina A. Palmese, Christina A. Palmese, Sonya Elango, Sonya Elango, Matthew Swan, Matthew Swan, Vicki Shanker, Vicki Shanker, Imali Perera, Cuiling Wang, Molly E. Zimmerman, Rachel Saunders-Pullman, Rachel Saunders-Pullman

    Diterbitkan 2021-02-01
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  8. 8
    DMS as an orthogonal separation to LC/ESI/MS/MS for quantifying isomeric cerebrosides in plasma and cerebrospinal fluid[S]

    DMS as an orthogonal separation to LC/ESI/MS/MS for quantifying isomeric cerebrosides in plasma and cerebrospinal fluid[S] oleh Hongbin Xu, Frederic R. Boucher, Thao T. Nguyen, Graeme P. Taylor, Julianna J. Tomlinson, Roberto A. Ortega, Brigitte Simons, Michael G. Schlossmacher, Rachel Saunders-Pullman, Walt Shaw, Steffany A.L. Bennett

    Diterbitkan 2019-01-01
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  9. 9
    Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition

    Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition oleh Elena Arystarkhova, Ihtsham U. Haq, Timothy Luebbert, Fanny Mochel, Rachel Saunders-Pullman, Susan B. Bressman, Polina Feschenko, Cynthia Salazar, Jared F. Cook, Scott Demarest, Allison Brashear, Laurie J. Ozelius, Kathleen J. Sweadner

    Diterbitkan 2019-12-01
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  10. 10
    Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson’s disease

    Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson’s disease oleh Gabriel Miltenberger-Miltenyi, Roberto A. Ortega, Aloysius Domingo, Rachita Yadav, Ayumi Nishiyama, Deborah Raymond, Viktoriya Katsnelson, Nikita Urval, Matthew Swan, Vicki Shanker, Joan Miravite, Ruth H. Walker, Susan B. Bressman, Laurie J. Ozelius, José C. Cabassa, Rachel Saunders-Pullman

    Diterbitkan 2023-12-01
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  11. 11
    Association Between Progranulin and Gaucher Disease

    Association Between Progranulin and Gaucher Disease oleh Jinlong Jian, Shuai Zhao, Qing-Yun Tian, Helen Liu, Yunpeng Zhao, Wen-Chi Chen, Gabriele Grunig, Paola A. Torres, Betty C. Wang, Bai Zeng, Gregory Pastores, Wei Tang, Ying Sun, Gregory A. Grabowski, Max Xiangtian Kong, Guilin Wang, Ying Chen, Fengxia Liang, Herman S. Overkleeft, Rachel Saunders-Pullman, Gerald L. Chan, Chuan-ju Liu

    Diterbitkan 2016-09-01
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  12. 12
    Tremor in cervical dystonia

    Tremor in cervical dystonia oleh Sinem Balta Beylergil, Krishna Nikhil Mukunda, Mohamed Elkasaby, Joel S. Perlmutter, Stewart Factor, Tobias Bäumer, Jeanne Feurestein, Erika Shelton, Steven Bellows, Joseph Jankovic, Abhimanyu Mahajan, Tila Wamer-Rosen, Stephen G. Reich, Aparna Wagle Shukla, Irene Malaty, Alberto Espay, Kevin Duque, Mark S. LeDoux, Rachel Saunders-Pullman, Katherine Leaver, Samuel Frank, Alexander Pantelyat, Victor Fung, Sarah Pirio Richardson, Brian Berman, Natividad Stover, Andres Deik, William Ondo, Christopher Groth, Hyder A. Jinnah, Aasef G. Shaikh

    Diterbitkan 2024-03-01
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