Results 41 to 50 of about 2,278 (204)

Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A

European Journal of Translational Myology, 2023
The autophagy process recycles dysfunctional cellular components and protein aggregates by sequestering them in autophagosomes directed to lysosomes for enzymatic degradation.
Mariangela Mastrapasqua, Roberta Rossi, Lucrezia De Cosmo, Annalisa Resta, Mariella Errede, Antonella Bizzoca, Stefania Zampatti, Nicoletta Resta, Emiliano Giardina, Maddalena Ruggieri, Daniela Virgintino, Tiziana Annese, Nicola Laforgia, Francesco Girolamo   +13 more
doaj   +1 more source

Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy

Disease Models & Mechanisms, 2014
Nemaline myopathy is an inherited muscle disease that is mainly diagnosed by the presence of nemaline rods in muscle biopsies. Of the nine genes associated with the disease, five encode components of striated muscle sarcomeres.
Joachim Berger, Hakan Tarakci, Silke Berger, Mei Li, Thomas E. Hall, Anders Arner, Peter D. Currie   +6 more
doaj   +1 more source

Congenital myopathies: characteristic and subtypes in Hong Kong [PDF]

, 2015
This journal suppl. entitled: 20th International Congress of The World Muscle SocietyCongenital myopathies are a group of childhood onset neuromuscular disorder with the diagnosis mainly based on genetic and pathological features.
Chan, AOK, Chan, HSS, Chan, TSK, Cheng, Y, Cherk, SWW, Fung, STH, Ho, RSL, Ip, JJK, Lam, WMW, Lee, CN, Lee, HCH, Liu, KT, Ng, GSF, Shek, WH, Wong, S, Wong, VCN   +15 more
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Tissue Triage and Freezing for Models of Skeletal Muscle Disease [PDF]

, 2014
Skeletal muscle is a unique tissue because of its structure and function, which requires specific protocols for tissue collection to obtain optimal results from functional, cellular, molecular, and pathological evaluations.
Beggs, Alan H., Childers, Martin K., Cossette, Stacy A., Frase, Alison, Grange, Robert W., Granzier, Henk, Gussoni, Emanuela, Janssen, Paul M.L., Lawlor, Michael W., Meng, Hui, Swanson, Lindsay C., Yang, Lin   +11 more
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A practical approach to the patient presenting with dropped head [PDF]

, 2016
Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core   +1 more source

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

PLoS ONE, 2011
Mutations in the skeletal muscle α-actin gene (ACTA1) cause congenital myopathies including nemaline myopathy, actin aggregate myopathy and rod-core disease.
Gianina Ravenscroft, Connie Jackaman, Caroline A Sewry, Elyshia McNamara, Sarah E Squire, Allyson C Potter, John Papadimitriou, Lisa M Griffiths, Anthony J Bakker, Kay E Davies, Nigel G Laing, Kristen J Nowak   +11 more
doaj   +1 more source

The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications

Genes and Diseases, 2021
According to existing reports, mutations in the slow tropomyosin gene (TPM3) may lead to congenital fiber-type disproportion (CFTD), nemaline myopathy (NM) and cap myopathy (CD).
Haoyue Xu, Hang Liu, Tao Chen, Bo Song, Jin Zhu, Xing Liu, Ming Li, Cong Luo   +7 more
doaj   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy [PDF]

, 2014
Peer ...
Adele D’Amico, Agrawal, Alan H. Beggs, Alla S. Kostyukova, Anders Flisberg, Ann E. Davidson, Annie Laquerrière, Biljana Ilkovski, Brett P. Thomas, Carina Wallgren-Pettersson, Carol C. Gregorio, Carsten G. Bönnemann, Catherine A. Brownstein, Chereau, Christopher T. Pappas, Coen A.C. Ottenheijm, Cooper, Daniel G. MacArthur, Darcée D. Sloboda, David Chitayat, David P. Bick, David S. Gokhin, de Winter, Edoardo Malfatti, Emily J. Todd, Enrico Bertini, Eva Holmberg, Flora Nolent, Gianina Ravenscroft, Gokhin, Granzier, Greenfield, Ichizo Nishino, James J. Dowling, Judith Melki, Jérome Maluenda, Katarina Pelin, Kate G. Quinlan, Kathryn N. North, Kostyukova, Kouyama, Leigh B. Waddell, Lindsay C. Swanson, Livija Medne, Majczenko, Mark J. Daly, Menezes, Michaela Yuen, Monkol Lek, Namrata Gupta, Nanda, Natalia Moroz, Nicole Martin, Nigel F. Clarke, Nigel G. Laing, Norma B. Romero, Ozge Ceyhan-Birsoy, Pablo Lapunzina, Patrick Shannon, Peter J. Houweling, Peter Van den Bergh, Ravenscroft, Ryan, Sarah A. Sandaradura, Sloboda, Stacey B. Gabriel, Stefanie M. Novak, Telfer, Tsukada, Vandana A. Gupta, Velia M. Fowler, Vilma-Lotta Lehtokari, William R. Telfer, Yukiko K. Hayashi   +73 more
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Multi-minicore Disease [PDF]

, 2007
Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown.
Heinz Jungbluth, AG Engel, C Wallgren-Pettersson, MI Hughes, N Darin, Y Zhang, H Jungbluth, H Jungbluth, A Ferreiro, A Shuaib, H Bonnette, AM Magliocco, AZJ Zeman, A Ferreiro, RB Fitzsimons, KP Rimmer, PW Rowe, H Jungbluth, M Swash, GK van Wijngaarden, PH Gordon, H Jungbluth, N Monnier, A Ferreiro, H Jungbluth, H Jungbluth, E Mercuri, MA Denborough, BM Koch, H Osada, V Barone, S Guis, J Bethlem, AN Bender, AKW Brownell, JA Vanneste, L Paljaervi, T Yoshida, B Moghadaszadeh, RC McKenzie, N Petit, M Deniziak, H Zhou, NB Romero, MS Phillips, G Meissner, T Wagenknecht, S Treves, S Wu, J Tong, RT Dirksen, S Ducreux, H Zhou, F Zorzato, V Dubowitz, CA Sewry, S Jongpiputvanich, CA Sewry, CG Bonnemann, M Herasse, H Jungbluth, P Nurenberg, JF Pellissier, I Tein, M Ohkubo, AE Chudley, YS Lee, N Hulsmann, JM Vallat, C Thomas, PC Scacheri, N Monnier, H Jungbluth, AM Kaindl, V Carmignac, E Bertini, SL Maidment, MAAP Willemsen, UJM Hagberg, C Wallgren-Pettersson, MA Denborough, S Messina   +81 more
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