Results 71 to 80 of about 8,048 (176)

Are cultured human myotubes far from home? [PDF]

, 2013
Satellite cells can be isolated from skeletal muscle biopsies, activated to proliferating myoblasts and differentiated into multinuclear myotubes in culture.
Aas, Vigdis, Bajpeyi, Sudip, Bakke, Siril Skaret, Feng, Yuan Zeng, Jensen, Jørgen, Kase, Eili Tranheim, Rustan, Arild, Thoresen, G. Hege   +7 more
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Periodic alternating nystagmus in isolated nodular infarction

Neurology, 2007
Myosin storage myopathy (MSM) associated with mutations in MYH7 encoding for slow/β-cardiac myosin heavy chain (MyHC) occurs sporadically or shows autosomal dominant inheritance.1–4 MSM is usually associated with severe skeletal muscle weakness, but ...
M. G. Chheda, J. Drappatz, N. J. Greenberger, S. Kesari, S. E. Weiss, D. Gigas, L. M. Doherty, P. Y. Wen   +7 more
semanticscholar   +1 more source

Disrupted autophagy undermines skeletal muscle adaptation and integrity [PDF]

, 2016
This review assesses the importance of proteostasis in skeletal muscle maintenance with a specific emphasis on autophagy. Skeletal muscle appears to be particularly vulnerable to genetic defects in basal and induced autophagy, indicating that autophagy ...
A Amalfitano, A Hishiya, A Kihara, A Osio, A Roos, A Ulbricht, A Ulbricht, AA Ruparelia, AB Moller, AC Nascimbeni, AW Beharry, AZ Caron, B Mohapatra, BC Beehler, BF Miller, C Behl, C He, C Mammucari, C Palma De, D Frank, D Frank, D Selcen, DJ Klionsky, DJ Klionsky, E Cabet, E Eden, E Masiero, E Masiero, E Tresse, EL Eskelinen, EL Eskelinen, Elliot J. Jokl, ES Moreira, F Lo Verso, FJ Ramos, G Blanco, G Dobrowolny, G Milan, Gonzalo Blanco, I Nemazanyy, I Nishino, I Tanida, J Laporte, J Sarparanta, J Schessl, J Zhao, JA Rodriguez-Navarro, JC Choi, JC Kaplan, JF Dice, JJ Wu, JN Rauch, JW Frey, K Baar, K Baar, K Gehmlich, K Sugie, KH Kim, KM Fetalvero, KP Bibee, KW Hsueh, L Brive, L Klinge, LG Goldfarb, LM Baehr, LP Winkel, LR Bridges, M Chrisam, M Kabbage, M Minoia, M Miyazaki, M Mofarrahi, M Pauly, M Sandri, M Vatta, M Vorgerd, MA Hauser, MC Malicdan, MJ Drummond, MS Bhuiyan, N Mizushima, N Mizushima, N Raben, N Raben, N Ramachandran, NC Chang, NP Whitehead, P Grumati, P Grumati, P Vicart, PV Schu, R Medina, R Medina, S Eghtesad, S Homma, S Lange, S Pattingre, S Schiaffino, S Waters, SC Bodine, SC Bodine, SJ Foltz, SK Custer, T Cullup, T Fukuda, T Fukuda, T Hidvegi, T Wenz, TN Stitt, V Arndt, V Carmignac, V Kirkin, V Schaeffer, V Tosch, VA Lira, Y Benjamini, Y Cao, Y Morikawa, Y Tanaka, Y Tian, Y Wang, Y Wei   +121 more
core   +1 more source

The evaluation of the activity of glucose-6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase under different patho-physiological conditions : a combined enzyme histochemical and biochemical approach [PDF]

, 1988
This thesis is based on a series of metabolic studies conducted on material obtained from human and experimental animal tissues and cells. The studies are essentially enzyme histochemical complemented when thought necessary with biochemical ...
Elias, E.A. (Ezzat), Heul, R.O. van der
core  

Mitochondrial abnormalities and low grade inflammation are present in the skeletal muscle of a minority of patients with amyotrophic lateral sclerosis; an observational myopathology study [PDF]

, 2014
BACKGROUND Amyotrophic lateral sclerosis (ALS) is a primary progressive neurodegenerative disease characterised by neuronal loss of lower motor neurons (in the spinal cord and brainstem) and/or upper motor neurons (in the motor cortex) and subsequent ...
A Echaniz-Laguna, A Echaniz-Laguna, A Ferri, A Krasnianski, C Vance, DR Rosen, EJ Brierley, EJ Brierley, EP Simpson, FR Wiedermann, FR Wiedermann, G Karpati, G Manfredi, G Siciliano, GM Borthwick, GP Comi, J Bradley, J Finisterer, J Finsterer, J Magrane, J Sreedharan, JD Mitchell, K Moissek, K Yamanaka, L Dupuis, L Dupuis, L Dupuis, L Dupuis, LM Duffy, LR Fischer, LS Ro, M Dewil, M Hirano, M Mancuso, M Mattiazzi, M Rizzardini, MC Dal Canto, ME Rubio-Gozalbo, MF Beal, N Jokic, P Pasinelli, P Pasinelli, P Werydt, PF Pradat, PJ Shaw, S Al-Sarraj, S Sasaki, S Vielhaber, SA Sargsyan, T Altoniemi, T Grehl, T Magnus, V Crugnola, V Fetoni, W Johnston, Z Xu   +55 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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Additional file 1: of A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report

, 2019
Table S1. Sequencing parameters. Table S2. Detailed information for primers used for Sanger sequencing. Table S3. Supplementary information on candidate exome variants filtered by database. (DOCX 18 kb)
Mamelona, Jean, Filice, Louisa, Oussedik, Youcef, Crapoulet, Nicolas, Ouellette, Rodney, Alier Marrero   +5 more
openaire   +1 more source

Study of actin mutations linked to muscle disease

, 2008
Imperial Users ...
Feng , Juanjuan, Feng , Juanjuan
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Additional file 2: of A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report

, 2019
Figure S1. Filtering process using Genomatix GeneGrid and Qiagen Ingenuity Variant Analysisâ ˘ software. (DOCX 42 kb)
Mamelona, Jean, Filice, Louisa, Oussedik, Youcef, Crapoulet, Nicolas, Ouellette, Rodney, Alier Marrero   +5 more
openaire   +1 more source

Investigation of mutations in exons 19-23 MYH7 gene in hypertrophic cardiomyopathy patients using PCR-SSCP/HA technique in Chaharmahal va Bakhtiari province [PDF]

, 2013
زمینه و هدف: کاردیومایوپاتی هایپرتروفی (HCM) رایج ترین نوع از بیماری های قلبی است که 2/0 درصد از جمعیت جهان را تحت تأثیر قرار داده و همچنین رایج ترین علت مرگ قلبی ناگهانی در جوانان زیر 35 سال است.
Abolhasani, Marziyeh., Bagheri, Nader., Hashemzadeh-Chaleshtori, Morteza., Heydari, Somayeh., Heydari, Soraya., Khaledifar, Arsalan., Pourahmad-Jaktaji, Razieh., Reisi, Somayeh   +7 more
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