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Items: 1 to 20 of 438

1.
Malignant hyperthermia-associated mutations in the S2-S3 cytoplasmic loop of type 1 ryanodine receptor calcium channel impair calcium-dependent inactivation
Angela C. Gomez, Timothy W. Holford, Naohiro Yamaguchi
Am J Physiol Cell Physiol. 2016 Nov 1; 311(5): C749–C757. Published online 2016 Aug 24. doi: 10.1152/ajpcell.00134.2016
PMCID:
PMC5130589
AbstractArticle
2.
Comparison of Clinical Characteristics Between Congenital Fiber Type Disproportion Myopathy and Congenital Myopathy with Type 1 Fiber Predominance
Sang-Jun Na, Woo-Kyung Kim, Tai-Seung Kim, Seong-Woong Kang, Eun-Young Lee, Young-Chul Choi
Yonsei Med J. 2006 Aug 31; 47(4): 513–518. Published online 2006 Aug 31. doi: 10.3349/ymj.2006.47.4.513
PMCID:
PMC2687732
AbstractArticlePDF–1.0M
3.
HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report
Eiji Matsuura, Satoshi Nozuma, Ayano Shigehisa, Mika Dozono, Tomonori Nakamura, Masakazu Tanaka, Ryuji Kubota, Akihiro Hashiguchi, Hiroshi Takashima
BMC Musculoskelet Disord. 2023; 24: 355. Published online 2023 May 6. doi: 10.1186/s12891-023-06461-3
PMCID:
PMC10163739
AbstractArticlePDF–1.1M
4.
A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity
Farshid Ghassemi, Mirko Vukcevic, Le Xu, Haiyan Zhou, Gerhard Meissner, Francesco Muntoni, Heinz Jungbluth, Francesco Zorzato, Susan Treves
Cell Calcium. Author manuscript; available in PMC 2010 Feb 1.
Published in final edited form as: Cell Calcium. 2009 Feb; 45(2): 192–197. Published online 2008 Nov 21. doi: 10.1016/j.ceca.2008.10.001
PMCID:
PMC2662321
AbstractArticlePDF–1.0M
5.
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy
Laura L. Smith, Vandana A. Gupta, Alan H. Beggs
Hum Mol Genet. 2014 Jul 1; 23(13): 3566–3578. Published online 2014 Feb 18. doi: 10.1093/hmg/ddu067
PMCID:
PMC4049309
AbstractArticlePDF–1.6M
6.
Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region
Takashi Murayama, Nagomi Kurebayashi, Toshiko Yamazawa, Hideto Oyamada, Junji Suzuki, Kazunori Kanemaru, Katsuji Oguchi, Masamitsu Iino, Takashi Sakurai
PLoS One. 2015; 10(6): e0130606. Published online 2015 Jun 26. doi: 10.1371/journal.pone.0130606
PMCID:
PMC4482644
AbstractArticlePDF–1.9M
7.
Ca2+ Release in Muscle Fibers Expressing R4892W and G4896V Type 1 Ryanodine Receptor Disease Mutants
Romain Lefebvre, Claude Legrand, Linda Groom, Robert T. Dirksen, Vincent Jacquemond
PLoS One. 2013; 8(1): e54042. Published online 2013 Jan 7. doi: 10.1371/journal.pone.0054042
PMCID:
PMC3538700
AbstractArticlePDF–667K
8.
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy
Gaetano Nicola Alfio Vattemi, Daniela Rossi, Lucia Galli, Maria Rosaria Catallo, Elia Pancheri, Giulia Marchetto, Barbara Cisterna, Manuela Malatesta, Enrico Pierantozzi, Paola Tonin, Vincenzo Sorrentino
Eur J Neurosci. 2022 Aug; 56(3): 4214–4223. Published online 2022 Jun 13. doi: 10.1111/ejn.15728
PMCID:
PMC9539902
AbstractArticlePDF–27M
9.
Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia
Remai Parker, Anja H. Schiemann, Elaine Langton, Terasa Bulger, Neil Pollock, Andrew Bjorksten, Robyn Gillies, David Hutchinson, Richard Roxburgh, Kathryn M. Stowell
J Neuromuscul Dis. 2017; 4(2): 147–158. Prepublished online 2017 May 15. Published online 2017 May 30. doi: 10.3233/JND-170210
PMCID:
PMC5467713
AbstractArticlePDF–368K
10.
Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release
Guo Guang Du, Vijay K. Khanna, Xinghua Guo, David H. MacLENNAN
Biochem J. 2004 Sep 1; 382(Pt 2): 557–564. Prepublished online 2004 Jun 3. Published online 2004 Aug 24. doi: 10.1042/BJ20040580
PMCID:
PMC1133812
AbstractArticlePDF–441K
11.
Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches
Tokunbor A. Lawal, Joshua J. Todd, Katherine G. Meilleur
Neurotherapeutics. 2018 Oct; 15(4): 885–899. Published online 2018 Nov 7. doi: 10.1007/s13311-018-00677-1
PMCID:
PMC6277304
AbstractArticlePDF–1.6M
12.
ASC1 is a cell cycle regulator associated with severe and mild forms of myopathy
Rocío N Villar-Quiles, Fabio Catervi, Eva Cabet, Raul Juntas-Morales, Casie A. Genetti, Teresa Gidaro, Asuman Koparir, Adnan Yüksel, Sandra Coppens, Nicolas Deconinck, Emma Pierce-Hoffman, Xavière Lornage, Julien Durigneux, Jocelyn Laporte, John Rendu, Norma B. Romero, Alan H. Beggs, Laurent Servais, Mireille Cossée, Montse Olivé, Johann Böhm, Isabelle Duband-Goulet, Ana Ferreiro
Ann Neurol. Author manuscript; available in PMC 2021 Feb 1.
Published in final edited form as: Ann Neurol. 2020 Feb; 87(2): 217–232. Published online 2019 Dec 27. doi: 10.1002/ana.25660
PMCID:
PMC6980348
AbstractArticlePDF–2.4M
13.
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion
Michael W. Lawlor, Elizabeth T. DeChene, Emily Roumm, Amelia S. Geggel, Behzad Moghadaszadeh, Alan H Beggs
Hum Mutat. Author manuscript; available in PMC 2011 Feb 1.
Published in final edited form as: Hum Mutat. 2010 Feb; 31(2): 176–183. doi: 10.1002/humu.21157
PMCID:
PMC2815199
AbstractArticlePDF–212K
14.
Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype
Valerie De Crescenzo, Kevin E. Fogarty, Jason J. Lefkowitz, Karl D. Bellve, Elena Zvaritch, David H. MacLennan, John V. Walsh, Jr.
Proc Natl Acad Sci U S A. 2012 Jan 10; 109(2): 610–615. Published online 2011 Dec 27. doi: 10.1073/pnas.1115111108
PMCID:
PMC3258591
AbstractArticlePDF–595K
15.
Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype–Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy
Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Marc Bitoun, Christopher R. Pierson, Elise Schaefer, Hatice Karasoy, Melissa A. Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S. Greenleaf, Melissa A. Barger, Lane J. Mahoney, Peter B. Kang, Edmar Zanoteli, John Vissing, Nanna Witting, Andoni Echaniz-Laguna, Carina Wallgren-Pettersson, James Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary S. B. Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, Alain Furby, Jose E. Barcena Llona, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin-Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine Mathews, Lori A. H. Erby, Stephen A. Smith, Jennifer Roggenbuck, Carol A. Crowe, Allison Brennan Spitale, Sheila C. Johal, Anthony A. Amato, Laurie A. Demmer, Jessica Jonas, Basil T. Darras, Thomas D. Bird, Mercy Laurino, Selman I. Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean-Louis Mandel, Alan H. Beggs, Jocelyn Laporte
Hum Mutat. Author manuscript; available in PMC 2013 Jun 1.
Published in final edited form as: Hum Mutat. 2012 Jun; 33(6): 949–959. Published online 2012 Apr 4. doi: 10.1002/humu.22067
PMCID:
PMC3374402
AbstractArticlePDF–3.0M
16.
Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy
Lei Tian, Sheng Ding, Yun You, Tong-ruei Li, Yan Liu, Xiaohui Wu, Ling Sun, Tian Xu
Dis Model Mech. 2015 Jun 1; 8(6): 635–641. doi: 10.1242/dmm.019430
PMCID:
PMC4457035
AbstractArticle
17.
High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy
Gaia Andreoletti, Oriana Romano, Hsin-Jung Chou, Mahjoubeh J. Sefid-Dashti, Andrea Grilli, Clarice Chen, Neema Lakshman, Pravin Purushothaman, Fatbardha Varfaj, Fulvio Mavilio, Silvio Bicciato, Fabrizia Urbinati
Am J Hum Genet. 2023 Oct 5; 110(10): 1648–1660. Published online 2023 Sep 5. doi: 10.1016/j.ajhg.2023.08.008
PMCID:
PMC10577074
AbstractArticlePDF–3.7M
18.
Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy
Young-Eun Park, Young-Chul Choi, Jong-Suk Bae, Chang-Hoon Lee, Hyang-Suk Kim, Jin-Hong Shin, Dae-Seong Kim
J Clin Neurol. 2014 Jan; 10(1): 24–31. Published online 2014 Jan 6. doi: 10.3988/jcn.2014.10.1.24
PMCID:
PMC3896645
AbstractArticlePDF–2.0M
19.
Myotubularin Regulates Akt-dependent Survival Signaling via Phosphatidylinositol 3-Phosphate
Gina L. Razidlo, Dawn Katafiasz, Gregory S. Taylor
J Biol Chem. 2011 Jun 3; 286(22): 20005–20019. Published online 2011 Apr 8. doi: 10.1074/jbc.M110.197749
PMCID:
PMC3103374
AbstractArticlePDF–2.2M
20.
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Michaela Yuen, Sarah A. Sandaradura, James J. Dowling, Alla S. Kostyukova, Natalia Moroz, Kate G. Quinlan, Vilma-Lotta Lehtokari, Gianina Ravenscroft, Emily J. Todd, Ozge Ceyhan-Birsoy, David S. Gokhin, Jérome Maluenda, Monkol Lek, Flora Nolent, Christopher T. Pappas, Stefanie M. Novak, Adele D’Amico, Edoardo Malfatti, Brett P. Thomas, Stacey B. Gabriel, Namrata Gupta, Mark J. Daly, Biljana Ilkovski, Peter J. Houweling, Ann E. Davidson, Lindsay C. Swanson, Catherine A. Brownstein, Vandana A. Gupta, Livija Medne, Patrick Shannon, Nicole Martin, David P. Bick, Anders Flisberg, Eva Holmberg, Peter Van den Bergh, Pablo Lapunzina, Leigh B. Waddell, Darcée D. Sloboda, Enrico Bertini, David Chitayat, William R. Telfer, Annie Laquerrière, Carol C. Gregorio, Coen A.C. Ottenheijm, Carsten G. Bönnemann, Katarina Pelin, Alan H. Beggs, Yukiko K. Hayashi, Norma B. Romero, Nigel G. Laing, Ichizo Nishino, Carina Wallgren-Pettersson, Judith Melki, Velia M. Fowler, Daniel G. MacArthur, Kathryn N. North, Nigel F. Clarke
J Clin Invest. 2014 Nov 3; 124(11): 4693–4708. Published online 2014 Sep 24. doi: 10.1172/JCI75199
Correction in:
J Clin Invest. 2015 Jan 2; 125(1): 456–457.
PMCID:
PMC4347224
AbstractArticlePDF–2.2M

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