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Select item 40363661.

Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy

Xiaoyan Lin, Janelle Ruiz, Ilda Bajraktari, Rachel Ohman, Soojay Banerjee, Katherine Gribble, Joshua D. Kaufman, Paul T. Wingfield, Robert C. Griggs, Kenneth H. Fischbeck, Ami Mankodi

J Biol Chem. 2014 May 9; 289(19): 13615–13626. Published online 2014 Mar 25. doi: 10.1074/jbc.M114.550418

PMCID:: PMC4036366

Article PDF–5.2M

Select item 39602382.

ZASP Interacts with the Mechanosensing Protein Ankrd2 and p53 in the Signalling Network of Striated Muscle

Valentina C. Martinelli, W. Buck Kyle, Snezana Kojic, Nicola Vitulo, Zhaohui Li, Anna Belgrano, Paolo Maiuri, Lawrence Banks, Matteo Vatta, Giorgio Valle, Georgine Faulkner

PLoS One. 2014; 9(3): e92259. Published online 2014 Mar 19. doi: 10.1371/journal.pone.0092259

Retraction in:: PLoS One. 2024; 19(1): e0298249.

PMCID:: PMC3960238

Article

Select item 95305163.

Sphingomyelinase activity promotes atrophy and attenuates force in human muscle fibres and is elevated in heart failure patients

Karl Olsson, Arthur J. Cheng, Mamdoh Al‐Ameri, Nicolas Tardif, Michael Melin, Olav Rooyackers, Johanna T. Lanner, Håkan Westerblad, Thomas Gustafsson, Joseph D. Bruton, Eric Rullman

J Cachexia Sarcopenia Muscle. 2022 Oct; 13(5): 2551–2561. Published online 2022 Jul 18. doi: 10.1002/jcsm.13029

PMCID:: PMC9530516

Article PDF–16M

Select item 87440134.

Gaia Scarpini, Maria Lucia Valentino, Melania Giannotta, Luca Ragni, Annalaura Torella, Marta Columbaro, Vincenzo Nigro, Antonella Pini

Acta Myol. 2021 Dec; 40(4): 177–183. Published online 2021 Dec 31. doi: 10.36185/2532-1900-061

PMCID:: PMC8744013

Article PDF–359K

Select item 83925365.

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

Raul Juntas Morales, Aurélien Perrin, Guilhem Solé, Delphine Lacourt, Henri Pegeot, Ulrike Walther-Louvier, Pascal Cintas, Claude Cances, Caroline Espil, Corinne Theze, Reda Zenagui, Kevin Yauy, Elodie Cosset, Dimitri Renard, Valerie Rigau, Andre Maues de Paula, Emmanuelle Uro-Coste, Marie-Christine Arne-Bes, Marie-Laure Martin Négrier, Nicolas Leboucq, Blandine Acket, Edoardo Malfatti, Valérie Biancalana, Corinne Metay, Pascale Richard, John Rendu, François Rivier, Michel Koenig, Mireille Cossée

Genes (Basel) 2021 Aug; 12(8): 1199. Published online 2021 Jul 31. doi: 10.3390/genes12081199

PMCID:: PMC8392536

Article PDF–2.9M

Select item 81941746.

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

Article PDF–11M

Select item 80956287.

Oxidative Stress in Desminopathies and Myotilinopathies: A Link between Oxidative Damage and Abnormal Protein Aggregation

Anna Janué, Montse Olivé, Isidre Ferrer

Brain Pathol. 2007 Oct; 17(4): 377–388. Published online 2007 Sep 4. doi: 10.1111/j.1750-3639.2007.00087.x

PMCID:: PMC8095628

Article PDF–1.7M

Select item 48336968.

Suspected myofibrillar myopathy in Arabian horses with a history of exertional rhabdomyolysis

S. J. VALBERG, E. C. McKENZIE, L. V. EYRICH, J. SHIVERS, N. E. BARNES, C. J. FINNO

Equine Vet J. Author manuscript; available in PMC 2016 Sep 1.

Published in final edited form as: Equine Vet J. 2016 Sep; 48(5): 548–556. Published online 2015 Sep 7. doi: 10.1111/evj.12493

PMCID:: PMC4833696

Article PDF–2.6M

Select item 43586829.

Statin myalgia is not associated with reduced muscle strength, mass or protein turnover in older male volunteers, but is allied with a slowing of time to peak power output, insulin resistance and differential muscle mRNA expression

Joanne E. Mallinson, Kanagaraj Marimuthu, Andrew Murton, Anna Selby, Kenneth Smith, Dumitru Constantin‐Teodosiu, Michael J. Rennie, Paul L. Greenhaff

J Physiol. 2015 Mar 1; 593(5): 1239–1257. Published online 2015 Jan 26. doi: 10.1113/jphysiol.2014.285577

PMCID:: PMC4358682

Article PDF–746K

Select item 424020110.

Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients

Yetrib Hathout, Ramya L. Marathi, Sree Rayavarapu, Aiping Zhang, Kristy J. Brown, Haeri Seol, Heather Gordish-Dressman, Sebahattin Cirak, Luca Bello, Kanneboyina Nagaraju, Terry Partridge, Eric P. Hoffman, Shin'ichi Takeda, Jean K. Mah, Erik Henricson, Craig McDonald

Hum Mol Genet. 2014 Dec 15; 23(24): 6458–6469. Published online 2014 Jul 15. doi: 10.1093/hmg/ddu366

PMCID:: PMC4240201

Article PDF–460K

Select item 423493211.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

Edoardo Malfatti, Vilma-Lotta Lehtokari, Johann Böhm, Josine M De Winter, Ursula Schäffer, Brigitte Estournet, Susana Quijano-Roy, Soledad Monges, Fabiana Lubieniecki, Remi Bellance, Mai Thao Viou, Angéline Madelaine, Bin Wu, Ana Lía Taratuto, Bruno Eymard, Katarina Pelin, Michel Fardeau, Coen AC Ottenheijm, Carina Wallgren-Pettersson, Jocelyn Laporte, Norma B Romero

Acta Neuropathol Commun. 2014; 2: 44. Published online 2014 Apr 12. doi: 10.1186/2051-5960-2-44

PMCID:: PMC4234932

Article PDF–2.0M

Select item 415385012.

Clinical Reasoning: A 52-year-old woman with progressive proximal weakness

Sailaja Enduri, Matthew R.G. Taylor, Teerin Liewluck

Neurology. 2014 Sep 2; 83(10): e106–e109. doi: 10.1212/WNL.0000000000000757

PMCID:: PMC4153850

Article PDF–298K

Select item 411747213.

Redox State and Mitochondrial Respiratory Chain Function in Skeletal Muscle of LGMD2A Patients

Mats I. Nilsson, Lauren G. Macneil, Yu Kitaoka, Fatimah Alqarni, Rahul Suri, Mahmood Akhtar, Maria E. Haikalis, Pavneet Dhaliwal, Munim Saeed, Mark A. Tarnopolsky

PLoS One. 2014; 9(7): e102549. Published online 2014 Jul 31. doi: 10.1371/journal.pone.0102549

PMCID:: PMC4117472

Article PDF–1.0M

Select item 393418114.

Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle

Lilli Winter, Ilona Staszewska, Eva Mihailovska, Irmgard Fischer, Wolfgang H. Goldmann, Rolf Schröder, Gerhard Wiche

J Clin Invest. 2014 Mar 3; 124(3): 1144–1157. Published online 2014 Feb 3. doi: 10.1172/JCI71919

PMCID:: PMC3934181

Article PDF–6.4M

Select item 323535615.

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy

Duygu Selcen, Mark B. Bromberg, Steven S. Chin, Andrew G. Engel

Neurology. 2011 Nov 29; 77(22): 1951–1959. doi: 10.1212/WNL.0b013e31823a0ebe

PMCID:: PMC3235356

Article PDF–1.2M

Select item 258343916.

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings

Benedikt Schoser, Claudio Bruno, Hans-Christian Schneider, Yoon S. Shin, Teodor Podskarbi, Lev Goldfarb, Wolfgang Müller-Felber, Josef Müller-Höcker

Mol Genet Metab. Author manuscript; available in PMC 2009 Sep 1.

Published in final edited form as: Mol Genet Metab. 2008; 95(1-2): 52–58. Published online 2008 Aug 8. doi: 10.1016/j.ymgme.2008.07.005

Correction in:: volume 97 on page 94

PMCID:: PMC2583439

Article PDF–2.7M

Select item 258343617.

Distinct muscle imaging patterns in myofibrillar myopathies

D. Fischer, R. A. Kley, K. Strach, C. Meyer, T. Sommer, K. Eger, A. Rolfs, W. Meyer, A. Pou, J. Pradas, C. M. Heyer, A. Grossmann, A. Huebner, W. Kress, J. Reimann, R. Schröder, B. Eymard, M. Fardeau, B. Udd, L. Goldfarb, M. Vorgerd, M. Olivé

Neurology. 2008 Sep 2; 71(10): 758–765. doi: 10.1212/01.wnl.0000324927.28817.9b

PMCID:: PMC2583436

Article PDF–430K

Select item 237545918.

The temporal responses of protein synthesis, gene expression and cell signalling in human quadriceps muscle and patellar tendon to disuse

Maarten D de Boer, Anna Selby, Philip Atherton, Ken Smith, Olivier R Seynnes, Constantinos N Maganaris, Nicola Maffulli, Tomas Movin, Marco V Narici, Michael J Rennie

J Physiol. 2007 Nov 15; 585(Pt 1): 241–251. Published online 2007 Sep 27. doi: 10.1113/jphysiol.2007.142828

PMCID:: PMC2375459

Article PDF–425K

Select item 169881619.

BAG3 Deficiency Results in Fulminant Myopathy and Early Lethality

Sachiko Homma, Masahiro Iwasaki, G. Diane Shelton, Eva Engvall, John C. Reed, Shinichi Takayama

Am J Pathol. 2006 Sep; 169(3): 761–773. doi: 10.2353/ajpath.2006.060250

PMCID:: PMC1698816

Article PDF–4.3M

Select item 1083247220.

Water properties in intact wooden breast fillets during refrigerated storage

Janghan Choi, Majid Shakeri, Woo Kyun Kim, Byungwhi Kong, Brian Bowker, Hong Zhuang

Poult Sci. 2024 Mar; 103(3): 103464. Published online 2024 Jan 15. doi: 10.1016/j.psj.2024.103464

PMCID:: PMC10832472

Article PDF–916K

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