Zobrazeno 1 - 10
of 106
pro vyhledávání: '"Deborah Raymond"'
Autor:
Adina Wise, Roberto A. Ortega, Deborah Raymond, Alessandra Cervera, Emma Thorn, Katherine Leaver, David S. Russell, Susan B. Bressman, John F. Crary, Rachel Saunders-Pullman
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundLRRK2 variants have been associated with immune dysregulation as well as immune-related disorders such as IBD. A possible relationship between multiple sclerosis (MS) and LRRK2 PD has also been suggested. Further, neuropathologic studies of
Externí odkaz:
https://doaj.org/article/b807a50c6b4f455faa550503d267f23c
Autor:
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
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-6 (2023)
Abstract There is a paucity of genetic characterization in people with Parkinson’s disease (PD) of Latino and Afro-Caribbean descent. Screening LRRK2 and GBA variants in 32 New Yorkers of Puerto Rican ethnicity with PD and in 119 non-Hispanic-non-J
Externí odkaz:
https://doaj.org/article/5ee46333b7a6487c91382f81069e20b7
Autor:
Eileen E. Moran, Susan B. Bressman, Roberto A. Ortega, Deborah Raymond, William C. Nichols, Christina A. Palmese, Sonya Elango, Matthew Swan, Vicki Shanker, Imali Perera, Cuiling Wang, Molly E. Zimmerman, Rachel Saunders-Pullman
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Mutations and variants in the glucocerebrosidase (GBA) gene are among the most common genetic risk factors for the development of Parkinson's disease (PD). Yet, penetrance is markedly reduced, and less is known about the burden of carrying a single m
Externí odkaz:
https://doaj.org/article/159c3d6cefc6472fa7ab58c80ae361f4
Autor:
Yaqian Xu, Anat Mirelman, Rachel Saunders-Pullman, Helen Mejia-Santana, Elise Caccappolo, Deborah Raymond, Nir Giladi, Susan Bressman, Karen Marder, Roy N. Alcalay
Publikováno v:
Clinical Parkinsonism & Related Disorders, Vol 3, Iss , Pp 100042- (2020)
Introduction: The Montreal Cognitive Assessment (MoCA), an instrument widely used for cognitive screening in Parkinson's disease (PD), is validated in Hebrew and English. However, it remains unknown whether the scores are comparable. Methods: The MoC
Externí odkaz:
https://doaj.org/article/b1c901a8efd34bf1b1cc0a1c6e220951
Autor:
Harini Sarva, Joan Miravite, Matthew C. Swan, Andres Deik, Deborah Raymond, William L. Severt, Brian H. Kopell
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 7 (2017)
Background: High frequency pallidal stimulation has been shown to improve various types of dystonia, including myoclonus-dystonia.Case Report: We report a case of epsilon sarcoglycan mutation-negative myoclonus-dystonia (MD) with response to low freq
Externí odkaz:
https://doaj.org/article/b991975277b8466abc3982c98079ff91
Autor:
David Arkadir, Angela Radulescu, Deborah Raymond, Naomi Lubarr, Susan B Bressman, Pietro Mazzoni, Yael Niv
Publikováno v:
eLife, Vol 5 (2016)
It has been difficult to link synaptic modification to overt behavioral changes. Rodent models of DYT1 dystonia, a motor disorder caused by a single gene mutation, demonstrate increased long-term potentiation and decreased long-term depression in cor
Externí odkaz:
https://doaj.org/article/429c8bfa932d49f588141369809eb597
Autor:
Andres F. Deik, Sean O'Riordan, Marta San Luciano, Vicki L. Shanker, Deborah Raymond, Susan B. Bressman, Rachel Saunders-Pullman
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 2 (2012)
Background: Spatial discrimination thresholds (SDTs) assess somatosensory integration, and provide a window into better understanding the pathophysiology of dystonia. They are abnormal in some focal dystonias, but normal in DYT1 dystonia. It is unkno
Externí odkaz:
https://doaj.org/article/b9ffff91de5b4b0ca25834c6c9c8b985
Autor:
Rachel Saunders-Pullman, Roberto Angel Ortega, Cuiling Wang, Deborah Raymond, Sonya Elango, Katherine Leaver, Nikita Urval, Viktoriya Katsnelson, Rachel Gerber, Matthew Swan, Vicki Shanker, Roy N. Alcalay, Anat Mirelman, Michael C. Brumm, Helen Mejia-Santana, Christopher S. Coffey, Kenneth Marek, Laurie J. Ozelius, Nir Giladi, Karen S. Marder, Susan B. Bressman
Publikováno v:
Neurology. 99:e814-e823
Background and ObjectivesThere is clinical and phenotypic heterogeneity in LRRK2 G2019S Parkinson disease (PD), including loss of smell. Olfactory scores have defined subgroups of LRRK2 PD at baseline. We now extend this work longitudinally to better
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eabf9b93aadd3613ab212e9e16e08d51
https://doi.org/10.1212/wnl.0000000000200737
https://doi.org/10.1212/wnl.0000000000200737
Autor:
Mariel Pullman, Deborah Raymond, Walter Molofsky, Naomi Lubarr, Katherine Leaver, Roberto Ortega, Maya Rawal, Steffany Bennett, Evan Bushnik, Azita Khorsandi, Fedor Panov, Jean Paul Vonsattel, Laurie Ozelius, Rachel Saunders-Pullman, Susan Bressman
Publikováno v:
Wednesday, April 26.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0ba380733a64f9075b38cbf5cf80c9e
https://doi.org/10.1212/wnl.0000000000202761
https://doi.org/10.1212/wnl.0000000000202761
Autor:
Roberto Ortega, Lena Burbulla, Izolda Mileva, Graeme Taylor, Miroslava Cuperlovic-Culf, Amanda Glickman, Mariel Pullman, Clemens Scherzer, Deborah Raymond, Gabriel Miltenyi-Miltenberger, Andrea Yoo, William Nichols, Dimitri Krainc, Susan Bressman, Lina Obeid, Yusuf Hannun, Steffany Bennett, Rachel Saunders-Pullman
Publikováno v:
Sunday, April 23.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b87560ecb25281ff2718b07cdbe275c1
https://doi.org/10.1212/wnl.0000000000203738
https://doi.org/10.1212/wnl.0000000000203738