Zobrazeno 1 - 10
of 114
pro vyhledávání: '"Mary Kay Koenig"'
Publikováno v:
Clinical Case Reports, Vol 12, Iss 7, Pp n/a-n/a (2024)
Key Clinical Message This case report presents a progressively declining 17‐year‐old patient with membrane protein‐associated neurodegeneration who demonstrated symptomatic improvements in her dysarthria, dysphagia, and gait, and objective impr
Externí odkaz:
https://doaj.org/article/a54e1e49d0fa470fb19e766fadeea974
Autor:
Renata Neves, Blanca De Dios Perez, Rafal Panek, Sumit Jagani, Sophie Wilne, Jayesh M. Bhatt, Caterina Caputi, Emilia Cirillo, David J. Coman, Gregor Dückers, Donald L. Gilbert, Mary Kay Koenig, Lobna Mansour, Elizabeth McDermott, Micaela Pauni, Claudio Pignata, Susan L. Perlman, Oscar Porras, Mariela Betina Porto, Katherine Schon, Pere Soler‐Palacin, Sam Nick Russo, Masatoshi Takagi, Marc Tischkowitz, Claire Wainwright, Madhumita Dandapani, Cristine Glazebrook, Mohnish Suri, William P. Whitehouse, Robert A. Dineen
Publikováno v:
Cancer Medicine, Vol 12, Iss 13, Pp 14663-14673 (2023)
Abstract Background/Objectives Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A
Externí odkaz:
https://doaj.org/article/4112859666704ce9a8573dfbcefab340
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
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 34, Iss , Pp 100958- (2023)
Externí odkaz:
https://doaj.org/article/6283ab35d774449081cdac63290aca0b
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100890- (2022)
POLG gene mutations are the most common causes of inherited mitochondrial disorders. The enzyme produced by this gene is responsible for the replication and repair of mitochondrial DNA. To date, around 300 pathogenic variants have been described in t
Externí odkaz:
https://doaj.org/article/104fd6eb742d499a956369e450d84828
Autor:
Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1263-1272 (2019)
Abstract Objective To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore geno
Externí odkaz:
https://doaj.org/article/54285d5342f7454b9058aec28ec2c677
Autor:
John M. Slopis, Octavio Arevalo, Cynthia S. Bell, Adelaide A. Hebert, Hope Northrup, Roy F. Riascos, Joshua A. Samuels, Keri C. Smith, Patti Tate, Mary Kay Koenig
Publikováno v:
Drugs in R&D, Vol 18, Iss 4, Pp 295-302 (2018)
Abstract Background Cutaneous neurofibromas cause disfigurement and discomfort in individuals with neurofibromatosis type 1 (NF-1). Methods The primary objective of this phase II, open-label, single-arm trial was to assess whether orally administered
Externí odkaz:
https://doaj.org/article/ec6cfa1e69dc414bb822464da8b3e388
Autor:
Kate Mowrey, Mary Kay Koenig, Charles A. Szabo, Joshua Samuels, Shannon Mulligan, Deborah A. Pearson, Hope Northrup
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic condition that involves abnormalities of the skin, hamartomas in the heart, brain, and kidneys, seizures, as well as TSC‐associated neuropsychiatric disorders (TA
Externí odkaz:
https://doaj.org/article/64f396b35ccd4d6f937c4df61230e512
Autor:
Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R. Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Care4Rare Canada Consortium, Tracy Dudding-Byth, Kym M. Boycott
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Abstract Background Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dys
Externí odkaz:
https://doaj.org/article/6eab3bb9f75d4cc9bb50e592a22f156a
Publikováno v:
Case Reports in Pediatrics, Vol 2016 (2016)
Beta-adrenergic blocking agents or beta-blockers are a class of medications used to treat cardiac arrhythmias and systemic hypertension. In therapeutic dosages, they have known adverse outcomes that can include muscular fatigue and cramping, dizzines
Externí odkaz:
https://doaj.org/article/c43367c27fae497699e8c1874e8798aa