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Items: 1 to 20 of 500

1.
SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance
Ersilia Varone, Diego Pozzer, Simona Di Modica, Alexander Chernorudskiy, Leonardo Nogara, Martina Baraldo, Mario Cinquanta, Stefano Fumagalli, Rocio Nur Villar-Quiles, Maria-Grazia De Simoni, Bert Blaauw, Ana Ferreiro, Ester Zito
Redox Biol. 2019 Jun; 24: 101176. Published online 2019 Mar 23. doi: 10.1016/j.redox.2019.101176
PMCID:
PMC6438913
AbstractArticlePDF–4.4M
2.
PTBP1 acts as a dominant repressor of the aberrant tissue‐specific splicing of ISCU in hereditary myopathy with lactic acidosis
Denise F. R. Rawcliffe, Lennart Österman, Angelica Nordin, Monica Holmberg
Mol Genet Genomic Med. 2018 Nov; 6(6): 887–897. Published online 2018 Sep 12. doi: 10.1002/mgg3.413
PMCID:
PMC6305642
AbstractArticlePDF–1.8M
3.
A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene
Shahrbanoo Nakhaei, Hamed Heidary, Aliasghar Rahimian, Mahdi Vafadar, Farzaneh Roohani, G.R. Bahoosh, Davoud Amirkashani
Iran Biomed J. 2018 Nov; 22(6): 415–419. doi: 10.29252/.22.6.415
PMCID:
PMC6305814
AbstractArticlePDF–929K
4.
‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero
Acta Neuropathol Commun. 2019; 7: 3. Published online 2019 Jan 5. doi: 10.1186/s40478-018-0655-5
PMCID:
PMC6320585
AbstractArticlePDF–12M
5.
The Primary Causes of Muscle Dysfunction Associated with the Point Mutations in Tpm3.12; Conformational Analysis of Mutant Proteins as a Tool for Classification of Myopathies
Yurii S. Borovikov, Olga E. Karpicheva, Armen O. Simonyan, Stanislava V. Avrova, Elena A. Rogozovets, Vladimir V. Sirenko, Charles S. Redwood
Int J Mol Sci. 2018 Dec; 19(12): 3975. Published online 2018 Dec 10. doi: 10.3390/ijms19123975
PMCID:
PMC6321504
AbstractArticlePDF–4.0M
6.
ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain
M. Bulla, G. Gyimesi, J.H. Kim, R. Bhardwaj, M.A. Hediger, M. Frieden, N. Demaurex
J Physiol. 2019 Jan 15; 597(2): 561–582. Published online 2018 Nov 28. doi: 10.1113/JP277079
PMCID:
PMC6332830
AbstractArticlePDF–1.6M
7.
Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations
Nivedita Patni, Frank Vuitch, Abhimanyu Garg
J Clin Endocrinol Metab. 2019 Mar; 104(3): 957–960. Published online 2018 Nov 21. doi: 10.1210/jc.2018-01331
PMCID:
PMC6364506
AbstractArticle
8.
Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal
Rana Yadak, Marjolein Breur, Marianna Bugiani
Orphanet J Rare Dis. 2019; 14: 33. Published online 2019 Feb 8. doi: 10.1186/s13023-019-1016-6
PMCID:
PMC6368792
AbstractArticlePDF–1.5M
9.
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy
Markus T. Sainio, Salla Välipakka, Bruno Rinaldi, Helena Lapatto, Anders Paetau, Simo Ojanen, Virginia Brilhante, Manu Jokela, Sanna Huovinen, Mari Auranen, Johanna Palmio, Sylvie Friant, Emil Ylikallio, Bjarne Udd, Henna Tyynismaa
J Neurol. 2019; 266(2): 353–360. Published online 2018 Dec 4. doi: 10.1007/s00415-018-9137-8
PMCID:
PMC6373352
AbstractArticlePDF–1.1M
10.
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez
Nat Commun. 2019; 10: 797. Published online 2019 Feb 15. doi: 10.1038/s41467-019-08548-9
PMCID:
PMC6377633
AbstractArticlePDF–11M
11.
Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy
Daniel C Helbling, David Mendoza, Julie McCarrier, Mark A Vanden Avond, Matthew M Harmelink, Paul E Barkhaus, Donald Basel, Michael W Lawlor
J Neuropathol Exp Neurol. 2019 Mar; 78(3): 283–287. Published online 2019 Feb 4. doi: 10.1093/jnen/nlz004
Correction in:
J Neuropathol Exp Neurol. 2020 Aug; 79(8): 932.
PMCID:
PMC6380315
AbstractArticlePDF–533K
12.
Late-onset megaconial myopathy in mice lacking group I Paks
Giselle A. Joseph, Margaret Hung, Aviva J. Goel, Mingi Hong, Marysia-Kolbe Rieder, Noam D. Beckmann, Madhavika N. Serasinghe, Jerry E. Chipuk, Parvathi M. Devarakonda, David J. Goldhamer, Paulina Aldana-Hernandez, Jonathan Curtis, René L. Jacobs, Robert S. Krauss
Skelet Muscle. 2019; 9: 5. Published online 2019 Feb 21. doi: 10.1186/s13395-019-0191-4
PMCID:
PMC6383276
AbstractArticlePDF–7.7M
13.
COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report
Mengxin Bao, Fei Mao, Zhangning Zhao, Gaoting Ma, Guangjun Xu, Wenjuan Xu, Huan Chen, Meijia Zhu
BMC Neurol. 2019; 19: 32. Published online 2019 Feb 26. doi: 10.1186/s12883-019-1263-0
PMCID:
PMC6390614
AbstractArticlePDF–924K
14.
A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link?
Simona Portaro, Alberto Cacciola, Antonino Naro, Demetrio Milardi, Rosa Morabito, Francesco Corallo, Silvia Marino, Alessia Bramanti, Emanuela Mazzon, Rocco Salvatore Calabrò
Medicine (Baltimore) 2018 Jun; 97(22): e10785. Published online 2018 Jun 1. doi: 10.1097/MD.0000000000010785
PMCID:
PMC6392771
AbstractArticlePDF–323K
15.
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites
Christine C. Bruels, Chengcheng Li, Tonatiuh Mendoza, Jamillah Khan, Hemakumar M. Reddy, Elicia A. Estrella, Partha S. Ghosh, Basil T. Darras, Hart G. W. Lidov, Christina A. Pacak, Louis M. Kunkel, François Modave, Isabelle Draper, Peter B. Kang
Mol Genet Genomic Med. 2019 Mar; 7(3): e552. Published online 2019 Jan 28. doi: 10.1002/mgg3.552
PMCID:
PMC6418371
AbstractArticlePDF–1.4M
16.
Treatment of Myotonia Congenita with Retigabine in Mice
Chris X. Dupont, Kirsten S. Denman, Ahmed A. Hawash, Andrew A. Voss, Mark M. Rich
Exp Neurol. Author manuscript; available in PMC 2020 May 1.
Published in final edited form as: Exp Neurol. 2019 May; 315: 52–59. Published online 2019 Feb 7. doi: 10.1016/j.expneurol.2019.02.002
PMCID:
PMC6431423
AbstractArticlePDF–1.2M
17.
Recent advances in understanding congenital myopathies
Gianina Ravenscroft, Robert J. Bryson-Richardson, Kristen J. Nowak, Nigel G. Laing
Version 1. F1000Res. 2018; 7: F1000 Faculty Rev-1921. Published online 2018 Dec 11. doi: 10.12688/f1000research.16422.1
PMCID:
PMC6290972
AbstractArticlePDF–853K
18.
K336I mutant actin alters the structure of neighbouring protomers in filaments and reduces affinity for actin-binding proteins
Nobuhisa Umeki, Keitaro Shibata, Taro Q. P. Noguchi, Keiko Hirose, Yasushi Sako, Taro Q. P. Uyeda
Sci Rep. 2019; 9: 5353. Published online 2019 Mar 29. doi: 10.1038/s41598-019-41795-w
PMCID:
PMC6441083
AbstractArticlePDF–1.7M
19.
Dynamic transcriptomic analysis reveals suppression of PGC1α/ERRα drives perturbed myogenesis in facioscapulohumeral muscular dystrophy
Christopher R S Banerji, Maryna Panamarova, Johanna Pruller, Nicolas Figeac, Husam Hebaishi, Efthymios Fidanis, Alka Saxena, Julian Contet, Sabrina Sacconi, Simone Severini, Peter S Zammit
Hum Mol Genet. 2019 Apr 15; 28(8): 1244–1259. Published online 2018 Dec 6. doi: 10.1093/hmg/ddy405
PMCID:
PMC6452176
AbstractArticlePDF–51M
20.
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4
Nathaniel Elia, Johanna Palmio, Marisol Sampedro Castañeda, Perry B. Shieh, Marbella Quinonez, Tiina Suominen, Michael G. Hanna, Roope Männikkö, Bjarne Udd, Stephen C. Cannon
Neurology. 2019 Mar 26; 92(13): e1405–e1415. doi: 10.1212/WNL.0000000000007185
PMCID:
PMC6453767
AbstractArticlePDF–806K

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