Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Emory Ryan"'
Autor:
Grisel J. Lopez, Jens Lichtenberg, Nahid Tayebi, Emory Ryan, Abigail L. Lecker, Ellen Sidransky
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
ObjectiveBiallelic mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase, cause the lysosomal storage disorder Gaucher disease (GD). In addition, mutations in GBA1 are the most common genetic risk factor for future development of P
Externí odkaz:
https://doaj.org/article/020a56acc67745abbe77f3fb4f5ebfaa
Publikováno v:
OBM Genetics. :1-21
Gaucher disease (GD) is one of the most common lysosomal storage disorders resulting from biallelic mutations in the GBA1 gene, causing a dysfunction of the lysosomal hydrolase, glucocerebrosidase (acid-β-glucosidase; E.C 3.2.1.45). Clinical manifes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab88c3a4fea65aa6720c53a4828f8809
https://doi.org/10.21926/obm.genet.2203165
https://doi.org/10.21926/obm.genet.2203165
Autor:
Adenrele M. Gleason, Andrea D'Souza, Emory Ryan, Angela R. Grochowsky, Camille R. Carter, Ozlem Goker‐Alpan, Grisel Lopez, Nahid Tayebi, Ellen Sidransky
Publikováno v:
American Journal of Medical Genetics Part A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ef52cd5693110e82e27cc73d5598ec5
https://doi.org/10.1002/ajmg.a.63202
https://doi.org/10.1002/ajmg.a.63202
Autor:
Ellen Sidransky, Nicole Fleischer, Raphael Schiffmann, Magy Abdelwahab, Emory Ryan, Nehal Hassib, Emily Daykin
Publikováno v:
Molecular Genetics and Metabolism. 134:274-280
Gaucher disease (GD) is a rare lysosomal storage disorder that is divided into three subtypes based on presentation of neurological manifestations. Distinguishing between the types has important implications for treatment and counseling. Yet, patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f28308aa5f29959a85a3184631135984
https://doi.org/10.1016/j.ymgme.2021.09.008
https://doi.org/10.1016/j.ymgme.2021.09.008
Publikováno v:
Expert review of endocrinologymetabolism. 17(6)
The use of facial recognition technology has diversified the diagnostic toolbelt for clinicians and researchers for the accurate diagnoses of patients with rare and challenging disorders. Specific identifiers in patient images can be grouped using ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b11edaeb918a3fcdc351ef879a2624dd
https://pubmed.ncbi.nlm.nih.gov/36384353
https://pubmed.ncbi.nlm.nih.gov/36384353
Publikováno v:
Expert Opin Pharmacother
Introduction The past decades have witnessed a remarkable improvement in the health of patients with Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase, resulting from the availability of enzyme replacement and subst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d730d6c6ed65e73274411bacb60c068
https://doi.org/10.1080/14656566.2021.1902989
https://doi.org/10.1080/14656566.2021.1902989
Autor:
Ellen Sidransky, Barbara K. Stubblefield, Nahid Tayebi, Raphael Schiffmann, Chelsie N. Poffenberger, Emory Ryan, Grisel Lopez, Sara K. Inati
Publikováno v:
Mol Genet Metab
The clinical phenotype of Gaucher disease type 3 (GD3), a neuronopathic lysosomal storage disorder, encompasses a wide array of neurological manifestations including neuro-ophthalmological findings, developmental delay, and seizures including progres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3044c83c7ba785e3f94ca670519aac32
https://doi.org/10.1016/j.ymgme.2020.10.010
https://doi.org/10.1016/j.ymgme.2020.10.010
Publikováno v:
Mov Disord Clin Pract
Background The link between Parkinson's disease (PD), the second most common neurodegenerative disorder, and nonneuronopathic Gaucher disease (GD) is well established. Currently, PD is primarily associated with nonneuronopathic GD; however, with curr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4912e5e0e6be05eaab2da40b408a9ae1
https://doi.org/10.1002/mdc3.13031
https://doi.org/10.1002/mdc3.13031
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