Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Chamindra G, Konersman"'
Autor:
Sarah R Rivera, Sumit K Jhamb, Hoda Z Abdel-Hamid, Gyula Acsadi, John Brandsema, Emma Ciafaloni, Basil T Darras, Susan T Iannaccone, Chamindra G Konersman, Nancy L Kuntz, Craig M McDonald, Julie A Parsons, Carolina Tesi Rocha, Craig M Zaidman, Russell J Butterfield, Anne M Connolly, Katherine D Mathews
Publikováno v:
PLoS ONE, Vol 15, Iss 10, p e0240687 (2020)
IntroductionDuchenne muscular dystrophy (DMD) is a childhood onset muscular dystrophy leading to shortened life expectancy. There are gaps in published DMD care guidelines regarding recently approved DMD medications and alternative steroid dosing reg
Externí odkaz:
https://doaj.org/article/6715df668b4d4feb89a01ef4461b2d2e
Autor:
Payam Mohassel, Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Sandra Donkervoort, Dimah Saade, B. Jeanne Billioux, Brooke Meader, Rita Volochayev, Chamindra G. Konersman, Angela M. Kaindl, Chie-Hee Cho, Bianca Russell, Adrian Rodriguez, K. Wade Foster, A. Reghan Foley, Steven A. Moore, Peter L. Jones, Carsten G. Bonnemann, Takako Jones, Natalie D. Shaw
Publikováno v:
Neurology. 98:e1384-e1396
Background and ObjectivesFacioscapulohumeral muscular dystrophy type 2 (FSHD2) and arhinia are 2 distinct disorders caused by pathogenic variants in the same gene: SMCHD1. The mechanism underlying this phenotypic divergence remains unclear. In this s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf709b5af4a47797ec6393c630f9f4b3
https://doi.org/10.1212/wnl.0000000000200032
https://doi.org/10.1212/wnl.0000000000200032
Autor:
Omar Ali, Louella B. Amos, Bethany Auble, Donald Basel, Shannon H. Baumer-Mouradian, Ashley Beattie, Geetanjali Bora, Brett J. Bordini, Brian R. Branchford, Amanda M. Brandow, Ryan Byrne, Gisela G. Chelimsky, Thomas C. Chelimsky, Paula Cody, Gary Cohen, Deborah M. Costakos, Emily M. Densmore, John C. Densmore, Patricia A. Donohoue, Amy L. Drendel, Garrett Elsner, Raquel Farias-Moeller, Shayne D. Fehr, Susan Feigelman, Veronica H. Flood, Jessica Francis, Julia Fritz, Sandra Gage, Bhaskar Gurram, Matthew M. Harmelink, Kristen E. Holland, Stephen R. Humphrey, Anna R. Huppler, Susan L. Jarosz, S. Anne Joseph, Alvina R. Kansra, Virginia Keane, Robert M. Kliegman, Julie M. Kolinski, Chamindra G. Konersman, Kathleen A. Koth, Katja Kovacic, Amornluck Krasaelap, John V. Kryger, Sara M. Lauck, Tracey H. Liljestrom, Ahmad Marashly, Seema Menon, Adrian Miranda, Michelle L. Mitchell, Amy Moskop, Michael Muriello, James J. Nocton, Joshua Noe, Cynthia G. Pan, Andrew N. Pelech, Brittany Player, Jacquelyn M. Powers, Angela L. Rabbitt, Amanda Rogers, John M. Routes, Mark Simms, Rajasree Sreedharan, Alyssa Stephany, Julie Talano, Grzegorz W. Telega, Heather Toth, Scott K. Van Why, Sarah Vepraskas, James W. Verbsky, Bernadette Vitola, Kevin D. Walter, Michael Weisgerber, Peter M. Wolfgram, Sarah C. Yale, Alicia C. Zolkoske
Publikováno v:
Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics ISBN: 9780323761741
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7de430587cd708229f04dc59615cfe76
https://doi.org/10.1016/b978-0-323-76174-1.01002-6
https://doi.org/10.1016/b978-0-323-76174-1.01002-6
Autor:
Payam, Mohassel, Ning, Chang, Kaoru, Inoue, Angela, Delaney, Ying, Hu, Sandra, Donkervoort, Dimah, Saade, B Jeanne, Billioux, Brooke, Meader, Rita, Volochayev, Chamindra G, Konersman, Angela M, Kaindl, Chie-Hee, Cho, Bianca, Russell, Adrian, Rodriguez, K Wade, Foster, A Reghan, Foley, Steven A, Moore, Peter L, Jones, Carsten G, Bonnemann, Takako, Jones, Natalie D, Shaw
Publikováno v:
Neurology
BACKGROUND AND OBJECTIVES: Facioscapulohumeral muscular dystrophy type 2 (FSHD2) and arhinia are 2 distinct disorders caused by pathogenic variants in the same gene: SMCHD1. The mechanism underlying this phenotypic divergence remains unclear. In this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c16a40b2753713846647a63e7df565cf
https://pubmed.ncbi.nlm.nih.gov/35121673
https://pubmed.ncbi.nlm.nih.gov/35121673
Autor:
Florian P. Thomas, Carsten G. Bönnemann, Zoe Piccus, Aliza Zidell, Ana Lucila Moreira, Matthew Nalls, S. Neuhaus, Mark A. Tarnopolsky, Helio Pedro, Fernando Kok, Eric Mittelmann, Kenneth Gable, Lauren Brady, Chamindra G. Konersman, Teresa M. Dunn, Anne M. Connolly, Alessandro Introna, Katherine R. Chao, Robert H. Brown, Tracy Brandt, Sabine Specht, Thorsten Hornemann, Museer A. Lone, Alec R. Nickolls, Volker Straub, Andreas Roos, Ahmet Hoke, Giancarlo Logroscino, Chiara Fiorillo, Claire E. Le Pichon, Chia-Hsueh Lee, Cindy V. Ly, A. Reghan Foley, Dimah Saade, Megan T. Cho, Sita D. Gupta, Ying Hu, Payam Mohassel, Andrea Gangfuß, Heike Kölbel, Christopher Grunseich, Jonas Alex Morales Saute, Sandra Donkervoort, Ana Töpf, Ulrike Schara, Naemeh Pourshafie
Publikováno v:
Nat Med
Nature Medicine
Web of Science
Nature Medicine
Web of Science
Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease of the lower and upper motor neurons with sporadic or hereditary occurrence. Age of onset, pattern of motor neuron degeneration and disease progression vary widely among
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3193b2001356b95896ddd8445463da1b
https://pubmed.ncbi.nlm.nih.gov/34059824
https://pubmed.ncbi.nlm.nih.gov/34059824
Autor:
John Naheedy, Susan L. Murphy, Andrew J. Skalsky, Emily Ewing, Chamindra G. Konersman, Burt Yaszay
Publikováno v:
Neuromuscular disorders : NMD. 31(3)
The purpose of this study was to determine how effective administration of nusinersen was at improving motor function in older adolescent and adult patients with spinal muscular atrophy, using standardized motor outcome measures. Data were gathered t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c1f6f19760f2a2e72d8a90735b32d49
https://pubmed.ncbi.nlm.nih.gov/33608138
https://pubmed.ncbi.nlm.nih.gov/33608138
Autor:
Sandra Donkervoort, M. Fink, S. Syeda, Katherine G. Meilleur, Carsten G. Bönnemann, Payam Mohassel, M. Leach, Dimah Saade, Diana Bharucha-Goebel, A. Foley, S. Neuhaus, Susan T. Iannaccone, M. Mohammed, Chamindra G. Konersman
Publikováno v:
Neuromuscular Disorders. 31:S68
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4af4a1da6f20289c5eb3937bb628d991
https://doi.org/10.1016/j.nmd.2021.07.088
https://doi.org/10.1016/j.nmd.2021.07.088
Autor:
Clotilde Lagier-Tourenne, Michael W. Lawlor, Fernande Freyermuth, Thomas L. Winder, Chamindra G. Konersman, Shailendra B. Patel
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Nemaline myopathy (NEM) is one of the three major forms of congenital myopathy and is characterized by diffuse muscle weakness, hypotonia, respiratory insufficiency, and the presence of nemaline rod structures on muscle biopsy. Mutations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e2b63e273657d0448cfc414adac09f8
https://doi.org/10.1002/mgg3.325
https://doi.org/10.1002/mgg3.325
Autor:
Rebecca Robertson, Jason Karamchandani, Xavier Allard-Chamard, Marc Petitclerc, Benjamin Ellezam, Vandana Gupta, Denis Brunet, Nicolas Chrestian, Emily C Troiano, Bernard Brais, Marie-Josée Dicaire, Chamindra G. Konersman, Alan H. Beggs, David Pellerin, Jodi Warman Chardon, Asli Aykanat, Jean Mathieu
Publikováno v:
Ann Neurol
Objective Recessive null variants of the slow skeletal muscle troponin T1 (TNNT1) gene are a rare cause of nemaline myopathy that is fatal in infancy due to respiratory insufficiency. Muscle biopsy shows rods and fiber type disproportion. We report o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d07b17f72d32bb998dc8bd2e8d814387
https://pubmed.ncbi.nlm.nih.gov/31970803
https://pubmed.ncbi.nlm.nih.gov/31970803
Autor:
Emma Ciafaloni, Sumit K. Jhamb, Sarah R. Rivera, Nancy L. Kuntz, Craig M. Zaidman, Julie A. Parsons, Susan T. Iannaccone, Carolina Tesi Rocha, Gyula Acsadi, Craig M. McDonald, John F. Brandsema, Basil T. Darras, Hoda Z. Abdel-Hamid, Chamindra G. Konersman, Anne M. Connolly, Russell J. Butterfield, Katherine D. Mathews
Publikováno v:
PLoS ONE
PLoS ONE, Vol 15, Iss 10, p e0240687 (2020)
PLoS ONE, Vol 15, Iss 10, p e0240687 (2020)
IntroductionDuchenne muscular dystrophy (DMD) is a childhood onset muscular dystrophy leading to shortened life expectancy. There are gaps in published DMD care guidelines regarding recently approved DMD medications and alternative steroid dosing reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b3bd9f980d25e581932de93d80f98a2
https://doi.org/10.1371/journal.pone.0240687
https://doi.org/10.1371/journal.pone.0240687