Zobrazeno 1 - 10
of 265
pro vyhledávání: '"JOHN T. KISSEL"'
Publikováno v:
Journal of Cardiovascular Magnetic Resonance, Vol 21, Iss 1, Pp 1-11 (2019)
Abstract Background Conduction disease and arrhythmias represent a major cause of mortality in myotonic muscular dystrophy type 1 (MMD1). Permanent pacemaker (PPM) implantation is the cornerstone of therapy to reduce cardiovascular mortality in MMD1.
Externí odkaz:
https://doaj.org/article/14c8ad5fb9e246fa818037eb0452f7fb
Autor:
Kelly A. Rich, Tia Moscarello, Carly Siskind, Guy Brock, Christopher A. Tan, Matteo Vatta, Thomas L. Winder, Bakri Elsheikh, Leah Vicini, Brianna Tucker, Marilly Palettas, Ray E. Hershberger, John T. Kissel, Ana Morales, Jennifer Roggenbuck
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background Variants in TTN are frequently identified in the genetic evaluation of skeletal myopathy or cardiomyopathy. However, due to the high frequency of TTN variants in the general population, incomplete penetrance, and limited understan
Externí odkaz:
https://doaj.org/article/c9ff0cedae104cbf87a7dbbc61d9cf7f
Autor:
Amy Bartlett, Stephen J. Kolb, Allison Kingsley, Kathryn J. Swoboda, Sandra P. Reyna, Ai Sakonju, Basil T. Darras, Richard Shell, Nancy Kuntz, Diana Castro, Susan T. Iannaccone, Julie Parsons, Anne M. Connolly, Claudia A. Chiriboga, Craig McDonald, W. Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B. Shieh, Erika Finanger, Christopher S. Coffey, Jon W. Yankey, Merit E. Cudkowicz, Michelle M. McGovern, D. Elizabeth McNeil, W. David Arnold, John T. Kissel
Publikováno v:
Contemporary Clinical Trials Communications, Vol 11, Iss , Pp 113-119 (2018)
Background/Aims: Recruitment and retention of research participants are challenging and critical components of successful clinical trials and natural history studies. Infants with spinal muscular atrophy (SMA) have been a particularly challenging pop
Externí odkaz:
https://doaj.org/article/c20105f5211a4c60a677082f4b5666d9
Autor:
Subha V. Raman, Kan N. Hor, Wojciech Mazur, Xin He, John T. Kissel, Suzanne Smart, Beth McCarthy, Sharon L. Roble, Linda H. Cripe
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-5 (2017)
Abstract Background Cardiomyopathy is a leading cause of morbidity and mortality in boys with Duchenne muscular dystrophy (DMD). We recently showed in a 12-month double-blind randomized controlled trial that adding eplerenone to background medical th
Externí odkaz:
https://doaj.org/article/9973288f4e34491892add5c6a12ada38
A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy
Autor:
Jennifer Roggenbuck, Kelly Rich, Ana Morales, Christopher A. Tan, Douglas Eck, Wendy King, Matteo Vatta, Thomas Winder, Bakri Elsheikh, Ray E. Hershberger, John T. Kissel
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Abstract Background Pathogenic variants in TTN (OMIM 188840), encoding the largest human protein, are known to cause dilated cardiomyopathy and several forms of skeletal myopathy. The clinical interpretation of TTN variants is challenging, however, d
Externí odkaz:
https://doaj.org/article/c2a8fccffa844cc5856ba2efded07812
Autor:
Subha V. Raman, Kan N. Hor, Wojciech Mazur, Andrea Cardona, Xin He, Nancy Halnon, Larry Markham, Jonathan H. Soslow, Michael D. Puchalski, Scott R. Auerbach, Uyen Truong, Suzanne Smart, Beth McCarthy, Ibrahim M. Saeed, Jeffrey M. Statland, John T. Kissel, Linda H. Cripe
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 8, Iss 19 (2019)
Background Duchenne muscular dystrophy incurs nearly universal dilated cardiomyopathy by the third decade of life, preceded by myocardial damage and impaired left ventricular strain by cardiac magnetic resonance. It has been shown that (1) mineraloco
Externí odkaz:
https://doaj.org/article/504750d1bc1049bda9232d61e690c43d
Autor:
Charles A Thornton, Richard Thomas Moxley, Katy Eichinger, Chad Heatwole, Laurence Mignon, W David Arnold, Tetsuo Ashizawa, John W Day, Gersham Dent, Matthew K Tanner, Tina Duong, Ericka P Greene, Laura Herbelin, Nicholas E Johnson, Wendy King, John T Kissel, Doris G Leung, Donovan J Lott, Daniel A Norris, Evan M Pucillo, Wendy Schell, Jeffrey M Statland, Nikia Stinson, Sub H Subramony, Shuting Xia, Kathie M Bishop, C Frank Bennett
Publikováno v:
The Lancet Neurology. 22:218-228
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06edbb966b88ee3a85a273542b721585
https://doi.org/10.1016/s1474-4422(23)00001-7
https://doi.org/10.1016/s1474-4422(23)00001-7
Autor:
Joel Oger, Joshua D Green, Bryan J Traynor, Richard J Barohn, Michael Benatar, Emanuela Bartoccion, Derrick Blackmore, Manisha Chopra, Andrea Corse, Mazen M Dimachkie, Amelia Evoli, Julaine Florence, Miriam Freimer, James F Howard, Theresa Jiwa, Henry J Kaminski, John T Kissel, Wilma J Koopman, Bernadette Lipscomb, Michelanglo Maestri, Mariapaola Marino, Janice M Massey, April McVey, Michelle M Mezei, Michael W Nicolle, Robert M Pascuzzi, Mamatha Pasnoor, Alan Pestronk, Carlo Provenzano, Roberta Ricciardi, David P Richman, Julie Rowin, Donald B Sanders, Zaeem Siddiqi, Aimee Soloway, Gil I Wolfe, Charlie Wulf, Daniel B Drachman
Publikováno v:
BMJ Open, Vol 10, Iss 9 (2020)
Objectives To approximate the rate of familial myasthenia gravis and the coexistence of other autoimmune disorders in the patients and their families.Design Retrospective cohort study.Setting Clinics across North America.Participants The study includ
Externí odkaz:
https://doaj.org/article/0145aad817a242af8725bc4e583792df
Peripheral neuropathies represent a challenging subject for most physicians. This is an up-to-date, comprehensive, and readable book on peripheral neuropathies that includes concise information on the clinical, electrophysiological, pathological, pat
Autor:
Merit Cudkowicz, Richard J. Barohn, Gil I. Wolfe, NeuroNEXT Nn BeatMG Study Team, Brenda Pearson, Muhammad Al-Lozi, David P. Richman, David A. Hafler, Michael Benatar, Kevin C. O’Connor, Robin Conwit, A. Gordon Smith, Eroboghene E. Ubogu, Richard Nowak, Emma Ciafaloni, Liz Uribe, Jonathan Goldstein, Mazen M. Dimachkie, Miriam Freimer, Michael E. Shy, Anthony A. Amato, Sharon P. Nations, Aditi Sharma, Jon W. Yankey, Ted M. Burns, Christopher S. Coffey, Laura Ann Sams, John T. Kissel, Dianna Quan, Volkan Granit
Publikováno v:
Neurology
Neurology, vol 98, iss 4
Neurology, vol 98, iss 4
Background and ObjectiveTo determine whether rituximab is safe and potentially beneficial, warranting further investigation in an efficacy trial for acetylcholine receptor antibody-positive generalized myasthenia gravis (AChR-Ab+ gMG).MethodsThe B-Ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a034452bec80ce3be9a64cbbab0fdb1
https://europepmc.org/articles/PMC8793103/
https://europepmc.org/articles/PMC8793103/