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Select item 47393361.

New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses

A. Maerkens, M. Olivé, A. Schreiner, S. Feldkirchner, J. Schessl, J. Uszkoreit, K. Barkovits, A. K. Güttsches, V. Theis, M. Eisenacher, M. Tegenthoff, L. G. Goldfarb, R. Schröder, B. Schoser, P. F. M. van der Ven, D. O. Fürst, M. Vorgerd, K. Marcus, R. A. Kley

Acta Neuropathol Commun. 2016; 4: 8. Published online 2016 Feb 3. doi: 10.1186/s40478-016-0280-0

PMCID:: PMC4739336

Article PDF–8.1M

Select item 27609602.

Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: A novel myotilinopathy phenotype?

Josep Gamez, Judith Armstrong, Alexey Shatunov, Albert Selva-O’Callaghan, Rosa Dominguez-Oronoz, Arantxa Ortega, Lev Goldfarb, Isidre Ferrer, Montse Olivé

J Neurol Sci. Author manuscript; available in PMC 2009 Oct 13.

Published in final edited form as: J Neurol Sci. 2009 Feb 15; 277(1-2): 167–171. Published online 2008 Nov 22. doi: 10.1016/j.jns.2008.10.019

PMCID:: PMC2760960

Article PDF–2.0M

Select item 19888803.

Target Genes of Neuron-Restrictive Silencer Factor Are Abnormally Up-Regulated in Human Myotilinopathy

Marta Barrachina, Jesús Moreno, Salvador Juvés, Dolores Moreno, Montse Olivé, Isidre Ferrer

Am J Pathol. 2007 Oct; 171(4): 1312–1323. doi: 10.2353/ajpath.2007.070520

PMCID:: PMC1988880

Article PDF–2.7M

Select item 92191804.

Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics

Michael Haug, Barbara Reischl, Stefanie Nübler, Leonit Kiriaev, Davi A. G. Mázala, Peter J. Houweling, Kathryn N. North, Oliver Friedrich, Stewart I. Head

Skelet Muscle. 2022; 12: 14. Published online 2022 Jun 23. doi: 10.1186/s13395-022-00295-8

PMCID:: PMC9219180

Article PDF–4.5M

Select item 87357205.

Ultrasound evaluation of diaphragm motion in BAG-3 myofibrillar myopathy: A case report

Liqiong Zhan, Lan Lv, Xinyuan Chen, Xiang Xu, Jun Ni

Medicine (Baltimore) 2022 Jan 7; 101(1): e28484. Published online 2022 Jan 7. doi: 10.1097/MD.0000000000028484

PMCID:: PMC8735720

Article PDF–593K

Select item 72449456.

Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T

Josef Finsterer, Claudia Stöllberger, Matthias Hasun, Korbinian Riedhammer, Mathias Wagner

Case Rep Cardiol. 2020; 2020: 5128069. Published online 2020 May 13. doi: 10.1155/2020/5128069

PMCID:: PMC7244945

Article PDF–687K

Select item 40134337.

RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice

Jian Liu, Lindsay M Wallace, Sara E Garwick-Coppens, Darcée D Sloboda, Carol S Davis, Chady H Hakim, Michael A Hauser, Susan V Brooks, Jerry R Mendell, Scott Q Harper

Mol Ther Nucleic Acids. 2014 Apr; 3(4): e160. Published online 2014 Apr 29. doi: 10.1038/mtna.2014.13

PMCID:: PMC4013433

Article PDF–611K

Select item 31533008.

Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3

Natalia Ermolova, Elena Kudryashova, Marino DiFranco, Julio Vergara, Irina Kramerova, Melissa J. Spencer

Hum Mol Genet. 2011 Sep 1; 20(17): 3331–3345. Published online 2011 May 30. doi: 10.1093/hmg/ddr239

PMCID:: PMC3153300

Article PDF–594K

Select item 15041459.

Clinical usefulness of urinary 3-methylhistidine excretion in indicating muscle protein breakdown.

M Elia, A Carter, S Bacon, C G Winearls, R Smith

Br Med J (Clin Res Ed) 1981 Jan 31; 282(6261): 351–354. doi: 10.1136/bmj.282.6261.351

PMCID:: PMC1504145

Summary Page Browse PDF–889K

Select item 49288010.

Increased myofibrillar protein catabolism in Duchenne muscular dystrophy measured by 3-methylhistidine excretion in the urine.

R O McKeran, D Halliday, P Purkiss

J Neurol Neurosurg Psychiatry. 1977 Oct; 40(10): 979–981. doi: 10.1136/jnnp.40.10.979

PMCID:: PMC492880

Summary Page Browse PDF–408K

Select item 49025811.

3-Methylhistidine excretion as an index of myofibrillar protein catabolism in neuromuscular disease.

R O McKeran, D Halliday, P Purkiss, P Royston

J Neurol Neurosurg Psychiatry. 1979 Jun; 42(6): 536–541. doi: 10.1136/jnnp.42.6.536

PMCID:: PMC490258

Summary Page Browse PDF–925K

Select item 37858612.

myotilin Mutation Found in Second Pedigree with LGMD1A

Michael A. Hauser, Cecilia B. Conde, Valeria Kowaljow, Guillermo Zeppa, Ana L. Taratuto, Udana M. Torian, Jeffery Vance, Margaret A. Pericak-Vance, Marcy C. Speer, Alberto L. Rosa

Am J Hum Genet. 2002 Dec; 71(6): 1428–1432. Published online 2002 Nov 11. doi: 10.1086/344532

PMCID:: PMC378586

Article PDF–93K

Select item 35875613.

Analysis of the structural genes encoding M-factor in the fission yeast Schizosaccharomyces pombe: identification of a third gene, mfm3.

S Kjaerulff, J Davey, O Nielsen

Mol Cell Biol. 1994 Jun; 14(6): 3895–3905. doi: 10.1128/mcb.14.6.3895

PMCID:: PMC358756

Summary Page Browse PDF–2.8M

Select item 809562814.

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 258343615.

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 1093738716.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Ana Töpf, Dan Cox, Irina T. Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M. Sealy, Andrei Smolnikov, Richard J. White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M. Laricchia, Cristina Venturini, Bas Vroling, Sarah L. Stenton, Beryl B. Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M. England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H. Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G. Bönnemann, Anita Cairns, Mei-Ting Chiew, Kristl G. Claeys, Sandra T. Cooper, Mark R. Davis, Sandra Donkervoort, Corrie E. Erasmus, Mahmoud R. Fassad, Casie A. Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N. Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E. Mongini, Nuria Muelas, Atsuko Nishikawa, Anne O’Donnell-Luria, Narumi Ogonuki, Gina L. O’Grady, Emily O’Heir, Stéphanie Paquay, Rahul Phadke, Beth A. Pletcher, Norma B. Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W. Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C. Voermans, Julia V. Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C. Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan J. Vilchez, Daniel G. MacArthur, Anna Sarkozy, Heather J. Cordell, Bjarne Udd, Elisabeth M. Busch-Nentwich, Francesco Muntoni, Volker Straub

Nat Genet. 2024; 56(3): 395–407. Published online 2024 Mar 1. doi: 10.1038/s41588-023-01651-0

PMCID:: PMC10937387

Article PDF–4.7M

Select item 1088696717.

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)

Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo

Cells. 2024 Feb; 13(4): 329. Published online 2024 Feb 10. doi: 10.3390/cells13040329

PMCID:: PMC10886967

Article PDF–26M

Select item 1034226518.

Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy

Constantinos Papadopoulos, Edoardo Malfatti, Corinne Métay, Boris Keren, Elodie Lejeune, Julien Buratti, Sophia Xirou, Margarita Chrysanthou-Piterou, George K. Papadimas

Int J Mol Sci. 2023 Jul; 24(13): 11181. Published online 2023 Jul 6. doi: 10.3390/ijms241311181

PMCID:: PMC10342265

Article PDF–1.1M

Select item 927959719.

Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre

Kun Huang, Hui‐Qian Duan, Qiu‐Xiang Li, Yue‐Bei Luo, Fang‐Fang Bi, Huan Yang

J Cell Mol Med. 2022 Jul; 26(14): 3828–3836. Published online 2022 Jun 6. doi: 10.1111/jcmm.17417

PMCID:: PMC9279597

Article PDF–1.1M

Select item 874401320.

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

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