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Select item 33641711.

Expression of the inclusion body myopathy 3 mutation in Drosophila depresses myosin function and stability and recapitulates muscle inclusions and weakness

Yang Wang, Girish C. Melkani, Jennifer A. Suggs, Anju Melkani, William A. Kronert, Anthony Cammarato, Sanford I. Bernstein

Mol Biol Cell. 2012 Jun 1; 23(11): 2057–2065. doi: 10.1091/mbc.E12-02-0120

PMCID:: PMC3364171

Article PDF–1.9M

Select item 64666132.

Homozygous Recessive MYH2 Mutation Mimicking Dominant MYH2 Associated Myopathy

Andrew R. Findlay, Matthew B. Harms, Alan Pestronk, Conrad C. Weihl

Neuromuscul Disord. Author manuscript; available in PMC 2019 Apr 16.

Published in final edited form as: Neuromuscul Disord. 2018 Aug; 28(8): 675–679. Published online 2018 May 21. doi: 10.1016/j.nmd.2018.05.006

PMCID:: PMC6466613

Article PDF–1.1M

Select item 62652613.

Elena Wüstenhagen, Fatima Boukhallouk, Inka Negwer, Krishnaraj Rajalingam, Frank Stubenrauch, Luise Florin

Oncogene. 2018; 37(48): 6275–6284. Published online 2018 Jul 17. doi: 10.1038/s41388-018-0398-6

PMCID:: PMC6265261

Article PDF–2.8M

Select item 56813494.

Genetic Variations Related to Maternal Whole Blood Mitochondrial DNA Copy Number: A Genome-Wide and Candidate Gene Study

Tsegaselassie Workalemahu, Daniel A. Enquobahrie, Mahlet G. Tadesse, Karin Hevner, Bizu Gelaye, Sixto Sanchez, Michelle A. Williams

J Matern Fetal Neonatal Med. Author manuscript; available in PMC 2017 Nov 10.

Published in final edited form as: J Matern Fetal Neonatal Med. 2017 Oct; 30(20): 2433–2439. Published online 2017 Apr 4. doi: 10.1080/14767058.2016.1252747

PMCID:: PMC5681349

Article PDF–565K

Select item 105586975.

Nuclear Actin Polymerization Regulates Cell Epithelial‐Mesenchymal Transition

William W. Du, Javeria Qadir, Kevin Y. Du, Yu Chen, Nan Wu, Burton B. Yang

Adv Sci (Weinh) 2023 Oct; 10(28): 2300425. Published online 2023 Aug 11. doi: 10.1002/advs.202300425

PMCID:: PMC10558697

Article PDF–7.7M

Select item 103571416.

Dipti Baskar, Seena Vengalil, Saraswati Nashi, Mainak Bardhan, Kosha Srivastava, Sai Bhargava Sanka, Kiran Polavarapu, Deepak Menon, Veeramani Preethish-Kumar, Hansashree Padmanabha, Gautham Arunachal, Atchayaram Nalini

J Neuromuscul Dis. 2023; 10(4): 727–730. Prepublished online 2023 May 2. Published online 2023 Jul 4. doi: 10.3233/JND-230017

PMCID:: PMC10357141

Article PDF–427K

Select item 100234257.

MYH2-associated Myopathy Caused by a Novel Splice-Site Variant

Thomas A. Cassini, May Christine V. Malicdan, Ellen F. Macnamara, Tanya Lehky, Iren Horkayne-Szakaly, Undiagnosed Diseases Network, Yan Huang, Robert Jones, Rena Godfrey, Lynne Wolfe, William A Gahl, Camilo Toro

Neuromuscul Disord. Author manuscript; available in PMC 2024 Mar 1.

Published in final edited form as: Neuromuscul Disord. 2023 Mar; 33(3): 257–262. Published online 2022 Dec 28. doi: 10.1016/j.nmd.2022.12.014

PMCID:: PMC10023425

Article PDF–831K

Select item 96646098.

Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2

Carola Hedberg-Oldfors, Ólöf Elíasdóttir, Mats Geijer, Christopher Lindberg, Anders Oldfors

BMC Neurol. 2022; 22: 428. Published online 2022 Nov 15. doi: 10.1186/s12883-022-02935-4

PMCID:: PMC9664609

Article PDF–2.2M

Select item 80829029.

Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype

Nicolas N. Madigan, Michael J. Polzin, Gaofeng Cui, Teerin Liewluck, Mohammad H. Alsharabati, Christopher J. Klein, Anthony J. Windebank, Georges Mer, Margherita Milone

Acta Neuropathol Commun. 2021; 9: 79. Published online 2021 Apr 29. doi: 10.1186/s40478-021-01168-9

PMCID:: PMC8082902

Article PDF–3.3M

Select item 778343110.

Core myopathies – a short review

Haluk Topaloglu

Acta Myol. 2020 Dec; 39(4): 266–273. Published online 2020 Dec 1. doi: 10.36185/2532-1900-029

PMCID:: PMC7783431

Article PDF–335K

Select item 764793111.

Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy

Javier Torres-Torronteras, Raquel Cabrera-Pérez, Ferran Vila-Julià, Carlo Viscomi, Yolanda Cámara, Michio Hirano, Massimo Zeviani, Ramon Martí

Hum Gene Ther. 2018 Jun 1; 29(6): 708–718. Published online 2018 Jun 1. doi: 10.1089/hum.2017.133

PMCID:: PMC7647931

Article PDF–506K

Select item 728824712.

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations

Anita E. Qualls, Sandra Donkervoort, Johanna C. Herkert, Alissa M. D’Gama, Diana Bharucha-Goebel, James Collins, Katherine R. Chao, A. Reghan Foley, Mirthe H. Schoots, Jan D.H. Jongbloed, Carsten G. Bönnemann, Pankaj B. Agrawal

Muscle Nerve. Author manuscript; available in PMC 2020 Jun 11.

Published in final edited form as: Muscle Nerve. 2019 Mar; 59(3): 357–362. Published online 2018 Nov 28. doi: 10.1002/mus.26378

PMCID:: PMC7288247

Article PDF–549K

Select item 720406313.

Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019

Tokunbor A. Lawal, Emily S. Wires, Nancy L. Terry, James J. Dowling, Joshua J. Todd

Orphanet J Rare Dis. 2020; 15: 113. Published online 2020 May 7. doi: 10.1186/s13023-020-01384-x

PMCID:: PMC7204063

Article PDF–1.5M

Select item 673667614.

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family

Uluç Yiş, Semra Hiz, Sezgin Güneş, Gülden Diniz, Figen Baydan, Ana Töpf, Ece Sonmezler, Hanns Lochmüller, Rita Horvath, Yavuz Oktay

J Neuromuscul Dis. Author manuscript; available in PMC 2019 Sep 10.

Published in final edited form as: J Neuromuscul Dis. 2019 Jun 20; 6(3): 377–384. Published online 2019 Jun 20. doi: 10.3233/JND-190383

PMCID:: PMC6736676

Article PDF–1.3M

Select item 661939115.

Motor function performance in individuals with RYR1‐related myopathies

Jessica W. Witherspoon, Carole Vuillerot, Ruhi P. Vasavada, Melissa R. Waite, Monique Shelton, Irene C. Chrismer, Minal S. Jain, Katherine G. Meilleur

Muscle Nerve. 2019 Jul; 60(1): 80–87. Published online 2019 Jun 17. doi: 10.1002/mus.26491

PMCID:: PMC6619391

Article PDF–573K

Select item 618266516.

Correlation of phenotype with genotype and protein structure in RYR1-related disorders

Joshua J. Todd, Vatsala Sagar, Tokunbor A. Lawal, Carolyn Allen, Muslima S. Razaqyar, Monique S. Shelton, Irene C. Chrismer, Xuemin Zhang, Mary M. Cosgrove, Anna Kuo, Ruhi Vasavada, Minal S. Jain, Melissa Waite, Dinusha Rajapakse, Jessica W. Witherspoon, Graeme Wistow, Katherine G. Meilleur

J Neurol. 2018; 265(11): 2506–2524. Published online 2018 Aug 28. doi: 10.1007/s00415-018-9033-2

PMCID:: PMC6182665

Article PDF–2.1M

Select item 610551917.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi J. Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, III, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Anthony J. Peduto, Adam Bournazos, Leigh B. Waddell, Michelle A. Farrar, Hugo A. Sampaio, Hooi Ling Teoh, Phillipa J. Lamont, David Mowat, Robin B. Fitzsimons, Alastair J. Corbett, Monique M. Ryan, Gina L. O'Grady, Sarah A. Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L. Marshall, Melinda A. Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A. Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R. Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E. Leach, A. Reghan Foley, Diana Bharucha‐Goebel, James Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard I. Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho‐Ming Luk, Neil H. Thomas, Nicola C. Foulds, Marjorie A. Illingworth, Sian Ellard, Catriona A. McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik‐Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, Carsten G. Bönnemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. Laing

Ann Neurol. 2018 Jun; 83(6): 1105–1124. Published online 2018 Jul 27. doi: 10.1002/ana.25241

PMCID:: PMC6105519

Article PDF–13M

Select item 607038218.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

Macarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, Eloy Rivas, Bharti Morar, Aurelio Hernández-Laín, Montse Olive, Nuria Muelas, Eduardo Khan, Alejandra Carvajal, Pablo Quiroga, Jordi Diaz-Manera, Mark Davis, Rainiero Ávila, Cristina Domínguez, Norma Beatriz Romero, Juan J. Vílchez, David Comas, Nigel G. Laing, Jocelyn Laporte, Luba Kalaydjieva, Carmen Paradas

Neurology. 2018 Jul 24; 91(4): e339–e348. doi: 10.1212/WNL.0000000000005862

PMCID:: PMC6070382

Article PDF–1011K

Select item 604773719.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

Pedro M Rodríguez Cruz, Katsiaryna Belaya, Keivan Basiri, Maryam Sedghi, Maria Elena Farrugia, Janice L Holton, Wei Wei Liu, Susan Maxwell, Richard Petty, Timothy J Walls, Robin Kennett, Matthew Pitt, Anna Sarkozy, Matt Parton, Hanns Lochmüller, Francesco Muntoni, Jacqueline Palace, David Beeson

J Neurol Neurosurg Psychiatry. Author manuscript; available in PMC 2018 Jul 16.

Published in final edited form as: J Neurol Neurosurg Psychiatry. 2016 Aug; 87(8): 802–809. Published online 2016 May 4. doi: 10.1136/jnnp-2016-313163

PMCID:: PMC6047737

Article PDF–1.9M

Select item 560603620.

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh

BMC Med Genet. 2017; 18: 105. Published online 2017 Sep 19. doi: 10.1186/s12881-017-0463-y

Correction in:: BMC Med Genet. 2017; 18: 150.

PMCID:: PMC5606036

Article PDF–1.1M

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