Zobrazeno 1 - 10
of 233
pro vyhledávání: '"Susan B, Bressman"'
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:
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
Publikováno v:
Neurobiology of Disease, Vol 132, Iss , Pp - (2019)
Dominant mutations of ATP1A3, a neuronal Na,K-ATPase α subunit isoform, cause neurological disorders with an exceptionally wide range of severity. Several new mutations and their phenotypes are reported here (p.Asp366His, p.Asp742Tyr, p.Asp743His, p
Externí odkaz:
https://doaj.org/article/82e95045cee04ce6ab9eb9a710e01a73
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:
An Vo, Nha Nguyen, Koji Fujita, Katharina A Schindlbeck, Andrea Rommal, Susan B Bressman, Martin Niethammer, David Eidelberg
Publikováno v:
Cerebral Cortex.
Primary dystonia is thought to emerge through abnormal functional relationships between basal ganglia and cerebellar motor circuits. These interactions may differ across disease subtypes and provide a novel biomarker for diagnosis and treatment. Usin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a37a8e122d81da346eac47eb56756eb4
https://doi.org/10.1093/cercor/bhad012
https://doi.org/10.1093/cercor/bhad012
Autor:
Roberto A. Ortega, Susan B. Bressman, Deborah Raymond, Laurie J. Ozelius, Cuiling Wang, Steffany A.L. Bennett, Rachel Saunders‐Pullman
Publikováno v:
Movement Disorders. 38:714-715
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2d4eed8fcee621f5cae41e00ce941726
https://doi.org/10.1002/mds.29353
https://doi.org/10.1002/mds.29353
Autor:
Roberto A. Ortega, Susan B. Bressman, Deborah Raymond, Laurie J. Ozelius, Viktoriya Katsnelson, Katherine Leaver, Matthew C. Swan, Vicki Shanker, Joan Miravite, Cuiling Wang, Steffany A.L. Bennett, Rachel Saunders‐Pullman
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 37(11)
Although men and women with the LRRK2 G2019S variant appear to be equally likely to have Parkinson's disease (PD), the sex-distribution among glucocerebrosidase (GBA) variant carriers with PD, including limited to specific variant severities of GBA,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25fd9d7f89a36d02b1161286c69731c6
https://pubmed.ncbi.nlm.nih.gov/36054306
https://pubmed.ncbi.nlm.nih.gov/36054306
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:
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
Publikováno v:
PLoS ONE, Vol 11, Iss 10, p e0162799 (2016)
Pre-clinical markers of Parkinson's Disease (PD) are needed, and to be relevant in pre-clinical disease, they should be quantifiably abnormal in early disease as well. Handwriting is impaired early in PD and can be evaluated using computerized analys
Externí odkaz:
https://doaj.org/article/ad665e3161c443feb47a2cd7e49549bd