Zobrazeno 1 - 10
of 289
pro vyhledávání: '"Marni J Falk"'
Autor:
Jeffrey R. Boris, Edward C. Shadiack, Elizabeth M. McCormick, Laura MacMullen, Ibrahim George‐Sankoh, Marni J. Falk
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 14 (2024)
Background Limited data exist on long‐term outcomes in individuals with postural orthostatic tachycardia syndrome (POTS). We designed an electronic questionnaire assessing various aspects of outcomes among patients diagnosed and treated in a single
Externí odkaz:
https://doaj.org/article/d50bd2fe36f442e69ffcaf10c4b261af
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 494-507 (2022)
Abstract Primary mitochondrial disease (PMD) encompasses a heterogeneous group of energy deficiency disorders that are typically progressive, with affected individuals experiencing an average of 16 multisystem symptoms. Clinical trials are emerging,
Externí odkaz:
https://doaj.org/article/38f8379391fe44e2ac65a11f9cdc47fe
Autor:
Isabella Peixoto de Barcelos, Dong Li, Deborah Watson, Elizabeth M. McCormick, Lisa Elden, Thomas S. Aleman, Erin C. O’Neil, Marni J. Falk, Hakon Hakonarson
Publikováno v:
Brain Sciences, Vol 13, Iss 8, p 1210 (2023)
We report a 20-year-old, female, adopted Indian patient with over 662 Mb regions of homozy-gosity who presented with intellectual disability, ataxia, schizophrenia, retinal dystrophy, moder-ate-to-severe progressive sensorineural hearing loss (SNHL),
Externí odkaz:
https://doaj.org/article/652b3ec6ac1142efa82a5536b544b19f
Autor:
Chynna N. Broxton, Prabhjot Kaur, Manuela Lavorato, Smruthi Ganesh, Rui Xiao, Neal D. Mathew, Eiko Nakamaru-Ogiso, Vernon E. Anderson, Marni J. Falk
Publikováno v:
JCI Insight, Vol 7, Iss 20 (2022)
Dihydrolipoamide dehydrogenase (DLD) deficiency is a recessive mitochondrial disorder caused by depletion of DLD from α-ketoacid dehydrogenase complexes. Caenorhabditis elegans animal models of DLD deficiency generated by graded feeding of dld-1(RNA
Externí odkaz:
https://doaj.org/article/5b614ede15e547d7b1818c48a4c71263
Autor:
Manuela Lavorato, Eiko Nakamaru-Ogiso, Neal D. Mathew, Elizabeth Herman, Nina Shah, Suraiya Haroon, Rui Xiao, Christoph Seiler, Marni J. Falk
Publikováno v:
JCI Insight, Vol 7, Iss 16 (2022)
Pathogenic variants in the human F-box and leucine-rich repeat protein 4 (FBXL4) gene result in an autosomal recessive, multisystemic, mitochondrial disorder involving variable mitochondrial depletion and respiratory chain complex deficiencies with l
Externí odkaz:
https://doaj.org/article/31b627c55d6e42e28f80a7fa812713dd
Autor:
Amel Karaa, Laura E. MacMullen, John C. Campbell, John Christodoulou, Bruce H. Cohen, Thomas Klopstock, Yasutoshi Koga, Costanza Lamperti, Rob vanMaanen, Robert McFarland, Sumit Parikh, Shamima Rahman, Fernando Scaglia, Alexander V. Sherman, Philip Yeske, Marni J. Falk
Publikováno v:
Advanced Genetics, Vol 3, Iss 1, Pp n/a-n/a (2022)
Abstract Primary mitochondrial diseases (PMD) are genetic disorders with extensive clinical and molecular heterogeneity where therapeutic development efforts have faced multiple challenges. Clinical trial design, outcome measure selection, lack of re
Externí odkaz:
https://doaj.org/article/8cf3a91187eb4fbda59f9d81b59014df
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
Autor:
Yu-Chin Lien, Zhe Zhang, Yi Cheng, Erzsebet Polyak, Laura Sillers, Marni J. Falk, Harry Ischiropoulos, Samuel Parry, Rebecca A. Simmons
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 15, p 7899 (2021)
A well-functioning placenta is crucial for normal gestation and regulates the nutrient, gas, and waste exchanges between the maternal and fetal circulations and is an important endocrine organ producing hormones that regulate both the maternal and fe
Externí odkaz:
https://doaj.org/article/0516a9bc05704c919c6d3d26c2c45d7e
Autor:
Lauren Anton, Ann DeVine, Erzsebet Polyak, Anthony Olarerin-George, Amy G. Brown, Marni J. Falk, Michal A. Elovitz
Publikováno v:
Frontiers in Physiology, Vol 10 (2019)
Preeclampsia is associated with first trimester placental dysfunction. miR-210, a small non-coding RNA, is increased in the preeclamptic placenta. The effects of elevated miR-210 on placental function remain unclear. The objectives of this study were
Externí odkaz:
https://doaj.org/article/c806569c0f524865aa399ef75ec565a9
Autor:
Margaret A Gustafson, Elizabeth M McCormick, Lalith Perera, Matthew J Longley, Renkui Bai, Jianping Kong, Matthew Dulik, Lishuang Shen, Amy C Goldstein, Shana E McCormack, Benjamin L Laskin, Bart P Leroy, Xilma R Ortiz-Gonzalez, Meredith G Ellington, William C Copeland, Marni J Falk
Publikováno v:
PLoS ONE, Vol 14, Iss 9, p e0221829 (2019)
Mitochondrial DNA (mtDNA) genome integrity is essential for proper mitochondrial respiratory chain function to generate cellular energy. Nuclear genes encode several proteins that function at the mtDNA replication fork, including mitochondrial single
Externí odkaz:
https://doaj.org/article/63b1a4fb63464668996acd615bcb408a