Zobrazeno 1 - 10
of 195
pro vyhledávání: '"Rachel Saunders‐Pullman"'
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:
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
Publikováno v:
Dystonia, Vol 3 (2024)
Background: Cervical dystonia (CD) is the most common form of focal dystonia encountered in the clinic. Approximately one-third of CD patients have co-existing tremor in the head and hands. Assessment of tremor as regular or irregular in context of i
Externí odkaz:
https://doaj.org/article/fb0f957640434ceb9bf756aa79ae7fbd
Autor:
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
Publikováno v:
Journal of Lipid Research, Vol 60, Iss 1, Pp 200-211 (2019)
Cerebrosides, including glucosylceramides (GlcCers) and galactosylceramides (GalCers), are important membrane components of animal cells with deficiencies resulting in devastating lysosomal storage disorders. Their quantification is essential for dis
Externí odkaz:
https://doaj.org/article/6a3a18647d204950ac2304109ab642c2
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:
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:
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
Publikováno v:
EBioMedicine, Vol 28, Iss C, Pp 251-260 (2018)
We recently reported that progranulin (PGRN) is a novel regulator of glucocerebrosidase and its deficiency associates with Gaucher Diseases (GD) (Jian et al., 2016a; Jian et al., 2018). To isolate the relevant downstream molecules, we performed a who
Externí odkaz:
https://doaj.org/article/a10e649a34ce464cbe65223434b3c89b
Autor:
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
Publikováno v:
EBioMedicine, Vol 11, Iss C, Pp 127-137 (2016)
Background: Gaucher disease (GD) is a genetic disease caused by mutations in the GBA1 gene which result in reduced enzymatic activity of β-glucocerebrosidase (GCase). This study identified the progranulin (PGRN) gene (GRN) as another gene associated
Externí odkaz:
https://doaj.org/article/1e6dc954fd094e07bd15ed85f5ed74e8
Autor:
Kotoka Nakamura, Francesca Fike, Sara Haghayegh, Rachel Saunders‐Pullman, Angelika J. Dawson, Thilo Dörk, Richard A. Gatti
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 2, Iss 4, Pp 332-340 (2014)
Abstract We studied 10 Mennonite patients who carry the c.6200C>A missense mutation (p.A2067D) in the ATM gene, all of whom exhibited a phenotypic variant of ataxia‐telangiectasia (A‐T) that is characterized by early‐onset dystonia and late‐o
Externí odkaz:
https://doaj.org/article/a95ea12ceab74086a7ff6075e80e3a48