Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Alta M. Steward"'
Autor:
Emory Ryan, Grisel Lopez, Ellen Sidransky, Gurpreet K. Seehra, Alta M. Steward, Tamanna Roshan Lal, Chelsie N. Poffenberger, Nahid Tayebi
Publikováno v:
Neurology
ObjectiveTo gather natural history data to better understand the changing course of type 2 Gaucher disease (GD2) in order to guide future interventional protocols.MethodsA structured interview was conducted with parents of living or deceased patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4cdc7ec71df3c465f126528cf40d85d
https://doi.org/10.1212/wnl.0000000000010605
https://doi.org/10.1212/wnl.0000000000010605
Autor:
Emory Ryan, Tamanna Roshan Lal, Ellen Sidransky, Taylor Lindstrom, Alta M. Steward, Grisel Lopez, Somto Ukwuani, Raphael Schiffmann, Edythe Wiggs, Nahid Tayebi
Publikováno v:
Neurology
ObjectiveTo identify relevant efficacy parameters essential in designing clinical trials for brain-penetrant therapies for Gaucher disease, we evaluated cognitive function longitudinally in 34 patients with Gaucher disease type 3 seen at the NIH Clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f3c45803f6bd51f058eda0dd2196466
https://doi.org/10.1212/wnl.0000000000008618
https://doi.org/10.1212/wnl.0000000000008618
Autor:
Gurpreet K. Seehra, Tamanna Roshan Lal, Grisel Lopez, Alta M. Steward, Emory Ryan, Yuichiro Tanima, Beth Solomon, Ellen Sidransky
Publikováno v:
Mol Genet Metab
Background Gaucher disease type 2 (GD2) is defined by acute neurological decline, failure to thrive, and early demise. Currently, there is no clear standard for evaluating, staging, and counseling regarding neurological decline in GD2. Due to the hig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5641f06be8788be16eefa03bae56a891
https://doi.org/10.1016/j.ymgme.2019.06.002
https://doi.org/10.1016/j.ymgme.2019.06.002
Publikováno v:
Expert Review of Endocrinology & Metabolism. 13:107-118
INTRODUCTION: Gaucher disease, the autosomal recessive deficiency of the lysosomal enzyme glucocerebrosidase, is associated with wide phenotypic diversity including non-neuronopathic, acute neuronopathic, and chronic neuronopathic forms. Overlap betw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76d0586d78203c8194479c501e555efb
https://doi.org/10.1080/17446651.2018.1445524
https://doi.org/10.1080/17446651.2018.1445524
Autor:
Paul Scott, Grisel Lopez, Alta M. Steward, Ellen Sidransky, Fernando Rivera-Melendez, Emory Ryan
Publikováno v:
Molecular Genetics and Metabolism. 129:S140-S141
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cdd44921300d0784469c706ee9357ed6
https://doi.org/10.1016/j.ymgme.2019.11.370
https://doi.org/10.1016/j.ymgme.2019.11.370
Autor:
Esther E. Ryan, Ellen Sidransky, Edythe Wiggs, Gianina Monestime, Taylor Lindstrom, Jenny Kim, Eric Joshua Garcia, Nahid Tayebi, Alta M. Steward, Grisel Lopez
Publikováno v:
Molecular Genetics and Metabolism. 129:S60-S61
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de014fe2e5b31e4ee6ca764713dbe1c5
https://doi.org/10.1016/j.ymgme.2019.11.139
https://doi.org/10.1016/j.ymgme.2019.11.139
Autor:
Emory Ryan, Ellen Sidransky, Catherine Groden, Laura Segalà, Alta M. Steward, Nahid Tayebi, Gianina Monestime, Grisel Lopez, Edythe Wiggs
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 35(2)
BACKGROUND Although the association between mutations in GBA1 and parkinsonism is well established, most GBA1 mutation carriers never develop parkinsonism, implicating the contribution of other genetic, epigenetic, and/or environmental modifiers. OBJ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ac89c649591711bff3e620f1d902ac1
https://pubmed.ncbi.nlm.nih.gov/31785030
https://pubmed.ncbi.nlm.nih.gov/31785030
Autor:
Shruthi Santhanakrishnan, Grisel Lopez, Ellen Sidransky, Barbara K. Stubblefield, Nahid Tayebi, Pankaj Sharma, Alta M. Steward
Publikováno v:
Molecular Genetics and Metabolism. 129:S147
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1476ba01b5b361a67afc37892560d59e
https://doi.org/10.1016/j.ymgme.2019.11.389
https://doi.org/10.1016/j.ymgme.2019.11.389
Autor:
Pankaj Sharma, Abdel G. Elkahloun, Frank X. Donovan, Yuichiro Tanima, Settara C. Chandrasekharappa, Grisel Lopez, Eric Joshua Garcia, Barbara K. Stubblefield, Alta M. Steward, Nahid Tayebi, Areian Eghbali, Ellen Sidransky
Publikováno v:
Molecular Genetics and Metabolism. 126:S51-S52
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0856bb9535b2cd541fccd078ba4964c9
https://doi.org/10.1016/j.ymgme.2018.12.115
https://doi.org/10.1016/j.ymgme.2018.12.115
Publikováno v:
The journal of pain. 18(12)
Chronic pain is a common condition associated with psychological distress, functional impairments, and age-associated comorbidity. Preliminary studies, on the basis of relatively small sample sizes, suggest that the combination of chronic pain and st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58416b9699d081b156caa99fd27aee1b
https://pubmed.ncbi.nlm.nih.gov/28919432
https://pubmed.ncbi.nlm.nih.gov/28919432