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Oxidative phosphorylation in creatine transporter deficiency.
Li S, Bianconi S, van der Veen JW, Dang Do A, Stolinski J, Cecil KM, Hannah-Shmouni F, Porter FD, Shen J. Li S, et al. NMR Biomed. 2021 Jan;34(1):e4419. doi: 10.1002/nbm.4419. Epub 2020 Sep 29. NMR Biomed. 2021. PMID: 32990357 Free PMC article.
Endocrine Conditions and COVID-19.
Shekhar S, Wurth R, Kamilaris CDC, Eisenhofer G, Barrera FJ, Hajdenberg M, Tonleu J, Hall JE, Schiffrin EL, Porter F, Stratakis CA, Hannah-Shmouni F. Shekhar S, et al. Horm Metab Res. 2020 Jul;52(7):471-484. doi: 10.1055/a-1172-1352. Epub 2020 Jun 8. Horm Metab Res. 2020. PMID: 32512611 Free PMC article. Review.
Prevalence of Diabetes and Hypertension and Their Associated Risks for Poor Outcomes in Covid-19 Patients.
Barrera FJ, Shekhar S, Wurth R, Moreno-Pena PJ, Ponce OJ, Hajdenberg M, Alvarez-Villalobos NA, Hall JE, Schiffrin EL, Eisenhofer G, Porter F, Brito JP, Bornstein SR, Stratakis CA, González-González JG, Rodíguez-Gutiérrez R, Hannah-Shmouni F. Barrera FJ, et al. J Endocr Soc. 2020 Jul 21;4(9):bvaa102. doi: 10.1210/jendso/bvaa102. eCollection 2020 Sep 1. J Endocr Soc. 2020. PMID: 32885126 Free PMC article. Review.
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.
Levin MD, Bianconi S, Smith A, Cawley NX, Do AD, Hammond D, Grafstein JF, Thurm A, Miller J, Perreault J, Noguchi A, Springer D, Kozel BA, Spurney CF, Wassif CA, Yu ZX, Schulze A, Porter FD, Hannah-Shmouni F. Levin MD, et al. Genet Med. 2021 Oct;23(10):1864-1872. doi: 10.1038/s41436-021-01224-8. Epub 2021 May 28. Genet Med. 2021. PMID: 34050321 Free PMC article.
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J, Dang Do A, Bianconi S, Hannah-Shmouni F, Guthrie W, Cubit LS, Miller JS, Sutton VR, Koeberl D, Porter FD. Rahhal S, et al. Among authors: hannah shmouni f. Mol Genet Metab Rep. 2023 Aug 21;37:101001. doi: 10.1016/j.ymgmr.2023.101001. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 37662495 Free PMC article.
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".
Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J, Dang Do A, Bianconi S, Hannah-Shmouni F, Guthrie W, Cubit LS, Miller JS, Sutton VR, Koeberl D, Porter FD. Rahhal S, et al. Among authors: hannah shmouni f. Mol Genet Metab Rep. 2023 Oct 9;37:101013. doi: 10.1016/j.ymgmr.2023.101013. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053934 Free PMC article.
Scoping review of COVID-19-related systematic reviews and meta-analyses: can we really have confidence in their results?
Wurth R, Hajdenberg M, Barrera FJ, Shekhar S, Copacino CE, Moreno-Peña PJ, Gharib OAM, Porter F, Hiremath S, Hall JE, Schiffrin EL, Eisenhofer G, Bornstein SR, Brito JP, González-González JG, Stratakis CA, Rodríguez-Gutiérrez R, Hannah-Shmouni F. Wurth R, et al. Postgrad Med J. 2022 May;98(1159):372-379. doi: 10.1136/postgradmedj-2020-139392. Epub 2021 Feb 26. Postgrad Med J. 2022. PMID: 33637639 Free PMC article. Review.
93 results