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Select item 59007381.

A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study

Alan H. Beggs, Barry J. Byrne, Sabine De Chastonay, Tmirah Haselkorn, Imelda Hughes, Emma S. James, Nancy L. Kuntz, Jennifer Simon, Lindsay C. Swanson, Michele L. Yang, Zi‐Fan Yu, Sabrina W. Yum, Suyash Prasad

Muscle Nerve. 2018 Apr; 57(4): 550–560. Published online 2017 Dec 22. doi: 10.1002/mus.26018

PMCID:: PMC5900738

Abstract Article PDF–271K

Select item 56750532.

Myofibril contraction and cross-linking drive nuclear movement to the periphery of skeletal muscle

William Roman, Joao P. Martins, Filomena A. Carvalho, Raphael Voituriez, Jasmine V.G. Abella, Nuno C. Santos, Bruno Cadot, Michael Way, Edgar R. Gomes

Nat Cell Biol. Author manuscript; available in PMC 2018 Mar 11.

Published in final edited form as: Nat Cell Biol. 2017 Oct; 19(10): 1189–1201. Published online 2017 Sep 11. doi: 10.1038/ncb3605

PMCID:: PMC5675053

Abstract Article PDF–3.7M

Select item 56497583.

A natural history study of X-linked myotubular myopathy

Kimberly Amburgey, Etsuko Tsuchiya, Sabine de Chastonay, Michael Glueck, Rachel Alverez, Cam-Tu Nguyen, Anne Rutkowski, Joseph Hornyak, Alan H. Beggs, James J. Dowling

Neurology. 2017 Sep 26; 89(13): 1355–1364. doi: 10.1212/WNL.0000000000004415

PMCID:: PMC5649758

Abstract Article PDF–1.1M

Select item 55706724.

A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy

Aqeela Al-Hashim, Hernan D. Gonorazky, Kimberly Amburgey, Soma Das, James J. Dowling

Neurol Genet. 2017 Oct; 3(5): e182. Published online 2017 Aug 24. doi: 10.1212/NXG.0000000000000182

PMCID:: PMC5570672

Article PDF–336K

Select item 54672475.

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

Hichem Tasfaout, Suzie Buono, Shuling Guo, Christine Kretz, Nadia Messaddeq, Sheri Booten, Sarah Greenlee, Brett P. Monia, Belinda S. Cowling, Jocelyn Laporte

Nat Commun. 2017; 8: 15661. Published online 2017 Jun 7. doi: 10.1038/ncomms15661

PMCID:: PMC5467247

Abstract Article PDF–2.6M

Select item 53836316.

Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs

David L. Mack, Karine Poulard, Melissa A. Goddard, Virginie Latournerie, Jessica M. Snyder, Robert W. Grange, Matthew R. Elverman, Jérôme Denard, Philippe Veron, Laurine Buscara, Christine Le Bec, Jean-Yves Hogrel, Annie G. Brezovec, Hui Meng, Lin Yang, Fujun Liu, Michael O’Callaghan, Nikhil Gopal, Valerie E. Kelly, Barbara K. Smith, Jennifer L. Strande, Fulvio Mavilio, Alan H. Beggs, Federico Mingozzi, Michael W. Lawlor, Ana Buj-Bello, Martin K. Childers

Mol Ther. 2017 Apr 5; 25(4): 839–854. Published online 2017 Feb 22. doi: 10.1016/j.ymthe.2017.02.004

PMCID:: PMC5383631

Abstract Article PDF–2.9M

Select item 52348657.

Consensus Statement on Standard of Care for Congenital Myopathies

Ching H. Wang, James J. Dowling, Kathryn North, Mary K. Schroth, Thomas Sejersen, Frederic Shapiro, Jonathan Bellini, Hali Weiss, Marc Guillet, Kimberly Amburgey, Susan Apkon, Enrico Bertini, Carsten Bonnemann, Nigel Clarke, Anne M. Connolly, Brigitte Estournet-Mathiaud, Dominic Fitzgerald, Julaine M. Florence, Richard Gee, Juliana Gurgel-Giannetti, Allan M. Glanzman, Brittany Hofmeister, Heinz Jungbluth, Anastassios C. Koumbourlis, Nigel G. Laing, Marion Main, Leslie A. Morrison, Craig Munns, Kristy Rose, Pamela M. Schuler, Caroline Sewry, Kari Storhaug, Mariz Vainzof, Nanci Yuan

J Child Neurol. Author manuscript; available in PMC 2017 Jan 13.

Published in final edited form as: J Child Neurol. 2012 Mar; 27(3): 363–382. doi: 10.1177/0883073812436605

PMCID:: PMC5234865

Abstract Article PDF–424K

Select item 50182078.

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings, Taru Tukiainen, Daniel P Birnbaum, Jack A Kosmicki, Laramie E Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce-Hoffman, Joanne Berghout, David N Cooper, Nicole Deflaux, Mark DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura Gauthier, Jackie Goldstein, Namrata Gupta, Daniel Howrigan, Adam Kiezun, Mitja I Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M Peloso, Ryan Poplin, Manuel A Rivas, Valentin Ruano-Rubio, Samuel A Rose, Douglas M Ruderfer, Khalid Shakir, Peter D Stenson, Christine Stevens, Brett P Thomas, Grace Tiao, Maria T Tusie-Luna, Ben Weisburd, Hong-Hee Won, Dongmei Yu, David M Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosua, Jose C Florez, Stacey B Gabriel, Gad Getz, Stephen J Glatt, Christina M Hultman, Sekar Kathiresan, Markku Laakso, Steven McCarroll, Mark I McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M Neale, Aarno Palotie, Shaun M Purcell, Danish Saleheen, Jeremiah M Scharf, Pamela Sklar, Patrick F Sullivan, Jaakko Tuomilehto, Ming T Tsuang, Hugh C Watkins, James G Wilson, Mark J Daly, Daniel G MacArthur

Nature. Author manuscript; available in PMC 2017 Feb 17.

Published in final edited form as: Nature. 2016 Aug 18; 536(7616): 285–291. doi: 10.1038/nature19057

PMCID:: PMC5018207

Abstract Article PDF–3.1M

Select item 50049429.

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models

Nesrin Sabha, Jonathan R. Volpatti, Hernan Gonorazky, Aaron Reifler, Ann E. Davidson, Xingli Li, Nadine M. Eltayeb, Claudia Dall’Armi, Gilbert Di Paolo, Susan V. Brooks, Ana Buj-Bello, Eva L. Feldman, James J. Dowling

J Clin Invest. 2016 Sep 1; 126(9): 3613–3625. Published online 2016 Aug 22. doi: 10.1172/JCI86841

PMCID:: PMC5004942

Abstract Article PDF–5.2M

Select item 486296110.

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Marco Savarese, Olimpia Musumeci, Teresa Giugliano, Anna Rubegni, Chiara Fiorillo, Fabiana Fattori, Annalaura Torella, Roberta Battini, Carmelo Rodolico, Aniello Pugliese, Giulio Piluso, Lorenzo Maggi, Adele D'Amico, Claudio Bruno, Enrico Bertini, Filippo Maria Santorelli, Marina Mora, Antonio Toscano, Carlo Minetti, Vincenzo Nigro

Neuromuscul Disord. 2016 Apr-May; 26(4-5): 292–299. doi: 10.1016/j.nmd.2016.02.004

PMCID:: PMC4862961

Abstract Article

Select item 476532211.

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

Michael W. Lawlor, Alan H. Beggs, Ana Buj-Bello, Martin K. Childers, James J. Dowling, Emma S. James, Hui Meng, Steven A. Moore, Suyash Prasad, Benedikt Schoser, Caroline A. Sewry

J Neuropathol Exp Neurol. 2016 Feb; 75(2): 102–110. Published online 2016 Jan 27. doi: 10.1093/jnen/nlv020

Correction in:: J Neuropathol Exp Neurol. 2016 May; 75(5): 479.

PMCID:: PMC4765322

Abstract Article PDF–992K

Select item 423747112.

N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy

Sestina Falcone, William Roman, Karim Hnia, Vincent Gache, Nathalie Didier, Jeanne Lainé, Frederic Auradé, Isabelle Marty, Ichizo Nishino, Nicolas Charlet-Berguerand, Norma Beatriz Romero, Giovanna Marazzi, David Sassoon, Jocelyn Laporte, Edgar R Gomes

EMBO Mol Med. 2014 Nov; 6(11): 1455–1475. Published online 2014 Sep 29. doi: 10.15252/emmm.201404436

PMCID:: PMC4237471

Abstract Article PDF–7.5M

Select item 410519713.

Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy

Martin K Childers, Romain Joubert, Karine Poulard, Christelle Moal, Robert W Grange, Jonathan A Doering, Michael W Lawlor, Branden E. Rider, Thibaud Jamet, Nathalie Danièle, Samia Martin, Christel Rivière, Thomas Soker, Caroline Hammer, Laetitia Van Wittenberghe, Mandy Lockard, Xuan Guan, Melissa Goddard, Erin Mitchell, Jane Barber, J. Koudy Williams, David L Mack, Mark E Furth, Alban Vignaud, Carole Masurier, Fulvio Mavilio, Philippe Moullier, Alan H Beggs, Anna Buj-Bello

Sci Transl Med. Author manuscript; available in PMC 2014 Jul 22.

Published in final edited form as: Sci Transl Med. 2014 Jan 22; 6(220): 220ra10. doi: 10.1126/scitranslmed.3007523

PMCID:: PMC4105197

Abstract Article PDF–3.6M

Select item 393826814.

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

Belinda S. Cowling, Thierry Chevremont, Ivana Prokic, Christine Kretz, Arnaud Ferry, Catherine Coirault, Olga Koutsopoulos, Vincent Laugel, Norma B. Romero, Jocelyn Laporte

J Clin Invest. 2014 Mar 3; 124(3): 1350–1363. Published online 2014 Feb 24. doi: 10.1172/JCI71206

PMCID:: PMC3938268

Abstract Article PDF–6.4M

Select item 380888615.

Dementia in a Child with Myotubular Myopathy

Heather J. McCrea, Christine Kretz, Jocelyn Laporte, Laura R. Ment

Pediatr Neurol. Author manuscript; available in PMC 2013 Oct 28.

Published in final edited form as: Pediatr Neurol. 2009 Jun; 40(6): 10.1016/j.pediatrneurol.2009.01.005. doi: 10.1016/j.pediatrneurol.2009.01.005

PMCID:: PMC3808886

Abstract Article PDF–456K

Select item 375109416.

Genotype-phenotype correlations in recessive RYR1-related myopathies

Kimberly Amburgey, Angela Bailey, Jean H Hwang, Mark A Tarnopolsky, Carsten G Bonnemann, Livija Medne, Katherine D Mathews, James Collins, Jasper R Daube, Gregory P Wellman, Brian Callaghan, Nigel F Clarke, James J Dowling

Orphanet J Rare Dis. 2013; 8: 117. Published online 2013 Aug 6. doi: 10.1186/1750-1172-8-117

PMCID:: PMC3751094

Abstract Article PDF–652K

Select item 364137817.

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database

Jorge Oliveira, Márcia E Oliveira, Wolfram Kress, Ricardo Taipa, Manuel Melo Pires, Pascale Hilbert, Peter Baxter, Manuela Santos, Henk Buermans, Johan T den Dunnen, Rosário Santos

Eur J Hum Genet. 2013 May; 21(5): 540–549. Published online 2012 Sep 12. doi: 10.1038/ejhg.2012.201

PMCID:: PMC3641378

Abstract Article PDF–1.7M

Select item 360583018.

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy

Michael W. Lawlor, Dustin Armstrong, Marissa G. Viola, Jeffrey J. Widrick, Hui Meng, Robert W. Grange, Martin K. Childers, Cynthia P. Hsu, Michael O'Callaghan, Christopher R. Pierson, Anna Buj-Bello, Alan H. Beggs

Hum Mol Genet. 2013 Apr 15; 22(8): 1525–1538. Published online 2013 Jan 9. doi: 10.1093/hmg/ddt003

PMCID:: PMC3605830

Abstract Article PDF–1.2M

Select item 359480319.

Large duplication in MTM1 associated with myotubular myopathy

K. Amburgey, M.W. Lawlor, D. del Gaudio, Y.W. Cheng, C. Fitzpatrick, A. Minor, X. Li, D. Aughton, S. Das, A.H. Beggs, J.J. Dowling

Neuromuscul Disord. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Neuromuscul Disord. 2013 Mar; 23(3): 214–218. Published online 2012 Dec 28. doi: 10.1016/j.nmd.2012.11.010

PMCID:: PMC3594803

Abstract Article PDF–1021K

Select item 348486720.

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models

James J. Dowling, Romain Joubert, Sean E. Low, Ashley N. Durban, Nadia Messaddeq, Xingli Li, Ashley N. Dulin-Smith, Andrew D. Snyder, Morgan L. Marshall, Jordan T. Marshall, Alan H. Beggs, Anna Buj-Bello, Christopher R. Pierson

Dis Model Mech. 2012 Nov; 5(6): 852–859. Published online 2012 May 24. doi: 10.1242/dmm.009746

PMCID:: PMC3484867

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