PMC Articles for MedGen (Select 863251) - PMC

Katarina Pelin, Lydia Sagath, Johanna Lehtonen, Kirsi Kiiski, Olli Tynninen, Anders Paetau, Mridul Johari, Marco Savarese, Carina Wallgren-Pettersson, Vilma-Lotta Lehtokari

J Neuromuscul Dis. 2023; 10(5): 977–984. Prepublished online 2023 Jun 27. Published online 2023 Sep 8. doi: 10.3233/JND-230026

PMCID:: PMC10578209

Abstract Article PDF–431K

Select item 102429206.

Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States

Robert J. Graham, Basil T. Darras, Tmirah Haselkorn, Dan Fisher, Casie A. Genetti, Weston Miller, Alan H. Beggs

Orphanet J Rare Dis. 2023; 18: 138. Published online 2023 Jun 6. doi: 10.1186/s13023-023-02733-2

PMCID:: PMC10242920

Abstract Article PDF–1.6M

Select item 101664787.

Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning

Amalia Lupi, Simone Spolaor, Alessandro Favero, Luca Bello, Roberto Stramare, Elena Pegoraro, Marco Salvatore Nobile

PLoS One. 2023; 18(5): e0285422. Published online 2023 May 8. doi: 10.1371/journal.pone.0285422

PMCID:: PMC10166478

Abstract Article PDF–1.5M

Select item 100697588.

Skeletal Muscle Disorders: A Noncardiac Source of Cardiac Troponin T

Jeanne du Fay de Lavallaz, Alexandra Prepoudis, Maria Janina Wendebourg, Eva Kesenheimer, Diego Kyburz, Thomas Daikeler, Philip Haaf, Julia Wanschitz, Wolfgang N. Löscher, Bettina Schreiner, Mira Katan, Hans H. Jung, Britta Maurer, Angelika Hammerer-Lercher, Agnes Mayr, Danielle M. Gualandro, Annemarie Acket, Christian Puelacher, Jasper Boeddinghaus, Thomas Nestelberger, Pedro Lopez-Ayala, Noemi Glarner, Samyut Shrestha, Robert Manka, Joanna Gawinecka, Salvatore Piscuoglio, John Gallon, Sophia Wiedemann, Michael Sinnreich, Christian Mueller

Circulation. 2022 Jun 14; 145(24): 1764–1779. Published online 2022 Apr 7. doi: 10.1161/CIRCULATIONAHA.121.058489

PMCID:: PMC10069758

Abstract Article PDF–1.9M

Select item 100514139.

Molecular Mechanisms of Deregulation of Muscle Contractility Caused by the R168H Mutation in TPM3 and Its Attenuation by Therapeutic Agents

Olga E. Karpicheva, Stanislava V. Avrova, Andrey L. Bogdanov, Vladimir V. Sirenko, Charles S. Redwood, Yurii S. Borovikov

Int J Mol Sci. 2023 Mar; 24(6): 5829. Published online 2023 Mar 18. doi: 10.3390/ijms24065829

PMCID:: PMC10051413

Abstract Article PDF–10M

Select item 939807910.

INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy

James J. Dowling, Wolfgang Müller-Felber, Barbara K. Smith, Carsten G. Bönnemann, Nancy L. Kuntz, Francesco Muntoni, Laurent Servais, Lindsay N. Alfano, Alan H. Beggs, Deborah A. Bilder, Astrid Blaschek, Tina Duong, Robert J. Graham, Minal Jain, Michael W. Lawlor, Jun Lee, Julie Coats, Charlotte Lilien, Linda P. Lowes, Victoria MacBean, Sarah Neuhaus, Mojtaba Noursalehi, Teresa Pitts, Caroline Finlay, Sarah Christensen, Gerrard Rafferty, Andreea M. Seferian, Etsuko Tsuchiya, Emma S. James, Weston Miller, Bryan Sepulveda, Maria Candida Vila, Suyash Prasad, Salvador Rico, Perry B. Shieh, for the INCEPTUS investigators

J Neuromuscul Dis. 2022; 9(4): 503–516. Prepublished online 2022 Jun 7. Published online 2022 Jul 1. doi: 10.3233/JND-210781

PMCID:: PMC9398079

Abstract Article PDF–1006K

Select item 933523811.

Molecular mechanism of the severe MH/CCD mutation Y522S in skeletal ryanodine receptor (RyR1) by cryo-EM

Kavita A. Iyer, Yifan Hu, Thomas Klose, Takashi Murayama, Montserrat Samsó

Proc Natl Acad Sci U S A. 2022 Jul 26; 119(30): e2122140119. Published online 2022 Jul 22. doi: 10.1073/pnas.2122140119

PMCID:: PMC9335238

Abstract Article PDF–3.4M

Select item 923774712.

Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report

Esther Picillo, Annalaura Torella, Luigia Passamano, Vincenzo Nigro, Luisa Politano

Acta Myol. 2022 Jun; 41(2): 95–98. Published online 2022 Jun 30. doi: 10.36185/2532-1900-073

PMCID:: PMC9237747

Abstract Article PDF–166K

Select item 903755513.

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth

Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177

PMCID:: PMC9037555

Abstract Article PDF–2.0M

Select item 898165314.

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8

Haiming Yuan, Qingming Wang, Xiumei Zeng, Peiqing He, Wanfang Xu, Hongmei Guo, Yanhui Liu, Yangyang Lin

Orphanet J Rare Dis. 2022; 17: 149. Published online 2022 Apr 4. doi: 10.1186/s13023-022-02306-9

PMCID:: PMC8981653

Abstract Article PDF–1.9M

Select item 882193215.

Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes

Roberto Silva-Rojas, Vasugi Nattarayan, Francisco Jaque-Fernandez, Raquel Gomez-Oca, Alexia Menuet, David Reiss, Marie Goret, Nadia Messaddeq, Valentina M. Lionello, Christine Kretz, Belinda S. Cowling, Vincent Jacquemond, Jocelyn Laporte

Mol Ther. 2022 Feb 2; 30(2): 868–880. Published online 2021 Aug 8. doi: 10.1016/j.ymthe.2021.08.006

PMCID:: PMC8821932

Abstract Article PDF–3.3M

Select item 879087116.

Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre

Yu Zhang, Hui Yan, Jieyu Liu, Huifang Yan, Yinan Ma, Cuijie Wei, Zhaoxia Wang, Hui Xiong, Xingzhi Chang

BMC Pediatr. 2022; 22: 65. Published online 2022 Jan 26. doi: 10.1186/s12887-021-03024-0

PMCID:: PMC8790871

Abstract Article PDF–1.5M

Select item 840446217.

SPEG: a key regulator of cardiac calcium homeostasis

Hannah Campbell, Yuriana Aguilar-Sanchez, Ann P Quick, Dobromir Dobrev, Xander H T Wehrens

Cardiovasc Res. 2021 Sep 1; 117(10): 2175–2185. Published online 2020 Oct 17. doi: 10.1093/cvr/cvaa290

PMCID:: PMC8404462

Abstract Article PDF–620K

Select item 819417418.

Integrated proteomic and transcriptomic profiling identifies aberrant gene and protein expression in the sarcomere, mitochondrial complex I, and the extracellular matrix in Warmblood horses with myofibrillar myopathy

Zoë J. Williams, Deborah Velez-Irizarry, Keri Gardner, Stephanie J. Valberg

BMC Genomics. 2021; 22: 438. Published online 2021 Jun 11. doi: 10.1186/s12864-021-07758-0

PMCID:: PMC8194174

Abstract Article PDF–11M

Select item 793776619.

Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis

Stephanie J. Valberg, Carrie J. Finno, Marisa L. Henry, Melissa Schott, Deborah Velez‐Irizarry, Sichong Peng, Erica C. McKenzie, Jessica L. Petersen

Equine Vet J. 2021 Jul; 53(4): 690–700. Published online 2020 Oct 29. doi: 10.1111/evj.13345

PMCID:: PMC7937766

Abstract Article PDF–476K

Select item 785287920.

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

Samantha J. Bryen, Emily C. Oates, Frances J. Evesson, Jessica K. Lu, Leigh B. Waddell, Himanshu Joshi, Monique M. Ryan, Beryl B. Cummings, Catriona A. McLean, Daniel G. MacArthur, Andrew J. Kornberg, Sandra T. Cooper

Eur J Hum Genet. 2021 Jan; 29(1): 61–66. Published online 2020 Aug 29. doi: 10.1038/s41431-020-00715-7

PMCID:: PMC7852879

Abstract Article PDF–1.1M

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