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Items: 1 to 20 of 79

1.
Muscle magnetic resonance imaging involvement patterns in nemaline myopathies
Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M. Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarkozy
Ann Clin Transl Neurol. 2023 Jul; 10(7): 1219–1229. Published online 2023 Jun 2. doi: 10.1002/acn3.51816
PMCID:
PMC10351659
ArticlePubReaderPDF–1.0MCite
2.
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
ArticlePubReaderPDF–1.9MCite
3.
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
ArticlePubReaderPDF–10MCite
4.
Collagen VI in the Musculoskeletal System
Alberto Di Martino, Matilde Cescon, Claudio D’Agostino, Francesco Schilardi, Patrizia Sabatelli, Luciano Merlini, Cesare Faldini
Int J Mol Sci. 2023 Mar; 24(6): 5095. Published online 2023 Mar 7. doi: 10.3390/ijms24065095
PMCID:
PMC10049728
ArticlePubReaderPDF–1.4MCite
5.
CIC-39Na reverses the thrombocytopenia that characterizes tubular aggregate myopathy
Celia Cordero-Sanchez, Emanuela Pessolano, Beatrice Riva, Mauro Vismara, Silvia Maria Grazia Trivigno, Nausicaa Clemente, Silvio Aprile, Federico Alessandro Ruffinatti, Paola Portararo, Nicoletta Filigheddu, Ivan Zaggia, Irene P. Bhela, Marta Serafini, Tracey Pirali, Mario P. Colombo, Mauro Torti, Sabina Sangaletti, Alessandra Bertoni, Armando A. Genazzani
Blood Adv. 2022 Aug 9; 6(15): 4471–4484. Published online 2022 Jun 15. doi: 10.1182/bloodadvances.2021006378
PMCID:
PMC9636319
ArticlePubReaderPDF–1.8MCite
6.
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
ArticlePubReaderPDF–1006KCite
7.
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands
Stacha F. I. Reumers, Corrie E. Erasmus, Karlijn Bouman, Maartje Pennings, Meyke Schouten, Benno Kusters, Floor A. M. Duijkers, Anneke van der Kooi, Bregje Jaeger, Corien C. Verschuuren‐Bemelmans, Catharina G. Faber, Baziel G. van Engelen, Erik‐Jan Kamsteeg, Heinz Jungbluth, Nicol C. Voermans
Clin Genet. 2021 Dec; 100(6): 692–702. Published online 2021 Sep 25. doi: 10.1111/cge.14054
PMCID:
PMC9292987
ArticlePubReaderPDF–6.7MCite
8.
Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants
Kenshiro Fujise, Satoru Noguchi, Tetsuya Takeda
Int J Mol Sci. 2022 Jun; 23(11): 6274. Published online 2022 Jun 3. doi: 10.3390/ijms23116274
PMCID:
PMC9181712
ArticlePubReaderPDF–1.8MCite
9.
Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center
Xi Yin, Chuanqiang Pu, Zhenfu Wang, Ke Li, HuiFang Wang
Acta Neurol Belg. 2022; 122(3): 631–639. Published online 2021 Mar 19. doi: 10.1007/s13760-020-01542-9
PMCID:
PMC9170660
ArticlePubReaderPDF–1.1MCite
10.
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
ArticlePubReaderPDF–1.9MCite
11.
Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population
Claribel Tian Yu Foo, Yi Hui To, Astrid Irwanto, Alvin Yu-Jin Ng, Benedict Yan, Sophia Tsong Huey Chew, Jianjun Liu, Lian Kah Ti
Sci Rep. 2022; 12: 5429. Published online 2022 Mar 31. doi: 10.1038/s41598-022-09310-w
PMCID:
PMC8971428
ArticlePubReaderPDF–1.5MCite
12.
Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation
Kaiyan Jiang, Yilei Zheng, Jing Lin, Xiaorong Wu, Yanyan Yu, Min Zhu, Xin Fang, Meihong Zhou, Xiaobing Li, Daojun Hong
Brain Behav. 2022 Feb; 12(2): e2469. Published online 2022 Jan 3. doi: 10.1002/brb3.2469
PMCID:
PMC8865156
ArticlePubReaderPDF–2.0MCite
13.
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
ArticlePubReaderPDF–1.5MCite
14.
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8
Sheng Yi, Yue Zhang, Zailong Qin, Shang Yi, Haiyang Zheng, Jingsi Luo, Qifei Li, Jin Wang, Qi Yang, Mengting Li, Fei Chen, Qiang Zhang, Qinle Zhang, Yiping Shen
Mol Genet Genomic Med. 2021 Jun; 9(6): e1683. Published online 2021 May 12. doi: 10.1002/mgg3.1683
PMCID:
PMC8222828
ArticlePubReaderPDF–663KCite
15.
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
ArticlePubReaderPDF–476KCite
16.
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation
Julia Schuld, Zacharias Orfanos, Frédéric Chevessier, Britta Eggers, Lorena Heil, Julian Uszkoreit, Andreas Unger, Gregor Kirfel, Peter F. M. van der Ven, Katrin Marcus, Wolfgang A. Linke, Christoph S. Clemen, Rolf Schröder, Dieter O. Fürst
Acta Neuropathol Commun. 2020; 8: 154. Published online 2020 Sep 4. doi: 10.1186/s40478-020-01001-9
PMCID:
PMC7650280
ArticlePubReaderPDF–16MCite
17.
A novel homozygous KY variant causing a complex neurological disorder
Beenish Arif, Arisha Rasheed, Kishore R Kumar, Amara Fatima, Ghazanfar Abbas, Elizabeth Wohler, Nara Sobriera, Katja Lohmann, Sadaf Naz, Baylor-Hopkins Center for Mendelian Genomics
Eur J Med Genet. Author manuscript; available in PMC 2021 Nov 1.
Published in final edited form as: Eur J Med Genet. 2020 Nov; 63(11): 104031. Published online 2020 Aug 18. doi: 10.1016/j.ejmg.2020.104031
PMCID:
PMC7554104
ArticlePubReaderPDF–484KCite
18.
A mutation update for the FLNC gene in myopathies and cardiomyopathies
Job A. J. Verdonschot, Els K. Vanhoutte, Godelieve R. F. Claes, Apollonia T. J. M. Helderman‐van den Enden, Janneke G. J. Hoeijmakers, Debby M. E. I. Hellebrekers, Amber de Haan, Imke Christiaans, Ronald H. Lekanne Deprez, Hanne M. Boen, Emeline M. van Craenenbroeck, Bart L. Loeys, Yvonne M. Hoedemaekers, Carlo Marcelis, Marlies Kempers, Esther Brusse, Jaap I. van Waning, Annette F. Baas, Dennis Dooijes, Folkert W. Asselbergs, Daniela Q. C. M. Barge‐Schaapveld, Pieter Koopman, Arthur van den Wijngaard, Stephane R. B. Heymans, Ingrid P. C. Krapels, Han G. Brunner
Hum Mutat. 2020 Jun; 41(6): 1091–1111. Published online 2020 Mar 20. doi: 10.1002/humu.24004
PMCID:
PMC7318287
ArticlePubReaderPDF–2.3MCite
19.
Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene
Luís Negrão, Rita Machado, Miguel Lourenço, Ana Fernandez-Marmiesse, Olinda Rebelo
Acta Myol. 2020 Mar; 39(1): 24–28. Published online 2020 Mar 1. doi: 10.36185/2532-1900-004
PMCID:
PMC7315894
ArticlePubReaderPDF–422KCite
20.
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
ArticlePubReaderPDF–549KCite

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