Zobrazeno 1 - 10
of 993
pro vyhledávání: '"Amy, Goldstein"'
Autor:
Mary Kay Koenig, Sam Nick Russo, Kim L. McBride, Hans Tomas Bjornsson, Brynja Bjork Gunnarsdottir, Amy Goldstein, Scott A. Falk
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 65-70 (2023)
Abstract Several mitochondrial diseases are caused by pathogenic variants that impair membrane phospholipid remodeling, with no FDA‐approved therapies. Elamipretide targets the inner mitochondrial membrane where it binds to cardiolipin, resulting i
Externí odkaz:
https://doaj.org/article/2a1b65d79cfc44da9295673fe3a0a559
Autor:
Jing Wang, Ada Chan, James Peterson, Kathleen Wood, Maria Alejandra Diaz-Miranda, Archana Tara, Amy Goldstein, Zarazuela Zolkipli-Cunningham, Elizabeth M. McCormick, Colleen Muraresku, Matthew Dulik, Douglas Wallace, Marni Falk
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100628- (2023)
Externí odkaz:
https://doaj.org/article/1e45c3f3454a4a3aaa32154fd2238203
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 11, Iss 4, Pp 909-918 (2020)
Abstract Background This study aims to evaluate the effect of subcutaneous (SC) elamipretide dosing on exercise performance using the 6 min walk test (6MWT), patient‐reported outcomes measuring fatigue, functional assessments, and safety to guide t
Externí odkaz:
https://doaj.org/article/4e3c7d9d0ebc4d80bc122ad1421fdd2d
Autor:
Manish Verma, Lily Francis, Britney N. Lizama, Jason Callio, Gabriella Fricklas, Kent Z.Q. Wang, Brett A. Kaufman, Leonardo D’Aiuto, Donna B. Stolz, Simon C. Watkins, Vishwajit L. Nimgaonkar, Alejandro Soto-Gutierrez, Amy Goldstein, Charleen T. Chu
Publikováno v:
The American Journal of Pathology. 193:201-212
Mutations in POLG, the gene encoding the catalytic subunit of DNA polymerase gamma, result in clinical syndromes characterized by mitochondrial DNA (mtDNA) depletion in affected tissues with variable organ involvement. The brain is one of the most af
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2d6e02d99250878843e8d43be47e6e9
https://doi.org/10.1016/j.ajpath.2022.11.002
https://doi.org/10.1016/j.ajpath.2022.11.002
Autor:
Johanna, Elander, Elizabeth M, McCormick, Maria, Värendh, Karin, Stenfeldt, Rebecca D, Ganetzky, Amy, Goldstein, Zarazuela, Zolkipli-Cunningham, Laura E, MacMullen, Rui, Xiao, Marni J, Falk, Johannes K, Ehinger
Publikováno v:
Molecular Genetics and Metabolism. 137:230-238
In this retrospective cohort study of 193 consecutive subjects with primary mitochondrial disease (PMD) seen at the Children's Hospital of Philadelphia Mitochondrial Medicine Frontier Program, we assessed prevalence, severity, and time of onset of se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e449011e98cf7871b90d41d6f4fad637
https://doi.org/10.1016/j.ymgme.2022.09.002
https://doi.org/10.1016/j.ymgme.2022.09.002
Autor:
Mary Kay Koenig, Sam Nick Russo, Kim L. McBride, Hans Tomas Bjornsson, Brynja Bjork Gunnarsdottir, Amy Goldstein, Scott A. Falk
Publikováno v:
JIMD Reports. 64:65-70
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::806b857dd44ac86b5c9b076876635ba0
https://doi.org/10.1002/jmd2.12335
https://doi.org/10.1002/jmd2.12335
Autor:
Amel Karaa, Amy Goldstein, Cristy Balcells, Kira Mann, Laura Stanley, Philip E. Yeske, Sumit Parikh
Publikováno v:
Data in Brief, Vol 25, Iss , Pp - (2019)
This article presents data that examine the patient's perception of health care delivery for mitochondrial disease in the US. It also presents the opinions of mitochondrial disease expert physicians about creating a specialised network of clinics to
Externí odkaz:
https://doaj.org/article/be35b62c261e491a961cae7caa7171d0
Publikováno v:
Tuesday, April 25.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7913336210f960a34e734d3f50e1eb95
https://doi.org/10.1212/wnl.0000000000202323
https://doi.org/10.1212/wnl.0000000000202323
Autor:
Donna DiVito, Amanda Wellik, Jessica Burfield, James Peterson, Jean Flickinger, Alyssa Tindall, Kimberly Albanowski, Shailee Vishnubhatt, Laura MacMullen, Isaac Martin, Colleen Muraresku, Elizabeth McCormick, George Ibrahim-Sankoh, Shana McCormack, Amy Goldstein, Rebecca Ganetzky, Marc Yudkoff, Rui Xiao, Marni J. Falk, Maria Mascarenhas, Zarazuela Zolkipli-Cunningham
We sought to prospectively characterize the nutritional status of adults ≥ 19 years (n=22, 27% males) and children (n=38, 61% male) with genetically-confirmed primary mitochondrial disease (PMD) to guide development of precision nutritional support
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0173c631fb7c9d96b4e745092e724997
https://doi.org/10.21203/rs.3.rs-2666831/v1
https://doi.org/10.21203/rs.3.rs-2666831/v1
Publikováno v:
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 42(3)
A 64-year-old man presented with painless sequential bilateral vision loss, consistent with optic neuropathy, over the span of months. The significant decline in his visual function was out of proportion to the appearance of the optic nerves (which w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd823334f1269e1fc830264a7e413781
https://pubmed.ncbi.nlm.nih.gov/36166762
https://pubmed.ncbi.nlm.nih.gov/36166762