Results 31 to 40 of about 146,584 (332)

Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems [PDF]

, 2016
Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated ...
Agrawal, Al-Qusairi, Al-Qusairi, Amoasii, Bach, Balla, Bansal, Beggs, Bevilacqua, Bitoun, Blondelle, Blot, Bohm, Bohm, Boncompagni, Buj-Bello, Butler, Caroline Sewry, Carozzi, Ceyhan-Birsoy, Cowling, Cowling, D'Alessandro, Denic, Dowling, Dowling, Dubowitz, Durieux, Durieux, Falcone, Fanny Pilot-Storck, Ferguson, Franzini-Armstrong, Fugier, Gemma L. Walmsley, Hamanaka, Helland, Hnia, Hnia, Ikeda, Inès Barthélémy, Jocelyn Laporte, Jordan Blondelle, Joubert, Jungbluth, Jungbluth, Jungbluth, Kerrie Venner, Kihara, Kihara, Klinge, Kramer, Laporte, Laurent Tiret, Lawlor, Lee, Lin, Majczenko, Manta, Marie Maurer, Maurer, McKerrell, McKerrell, Metzger, Molino, Muhammad, Nicolas Blanchard-Gutton, Nicot, Nishimura, Nori, Olby, Parton, Pelé, Pfaffl, Picas, Razzaq, Richard J. Piercy, Romero, Romero, Royer, Sabbadini, Schneiter, Shelton, Shichiji, Sinha, Strbenc, Stéphane Blot, Tiret, Tjondrokoesoemo, Toussaint, Uwanogho, Walmsley, Zhou   +92 more
core   +2 more sources

Myopathy in patients taking atorvastatin: A pilot study

Indian Journal of Endocrinology and Metabolism, 2017
Aim: This study aims to investigate the prevalence and risk factors of statin-induced myopathy. Subjects and Methods: A total of 200 patients aged ≥ 40 years and taking atorvastatin 10 mg/day or more for at least 2 weeks were recruited in the study.
K Manoj, N Jain, S V Madhu
doaj   +1 more source

Centronuclear myopathy in labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide [PDF]

, 2011
Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. In humans, CNM results from ~70 mutations in three major genes from the myotubularin, dynamin and amphiphysin families ...
Christophe Hitte, G. Diane Shelton, Geneviève Aubin-Houzelstein, Inès Barthélémy, Jacques Penderis, Jean-Jacques Panthier, Jean-Laurent Thibaud, Jérôme Mary, Laurent Guillaud, Laurent Tiret, Manuel Pelé, Marie Maurer, Marilyn Fender, Natasha Olby, Reiner Albert Veitia, Stéphane Blot, Thomas Bilzer   +16 more
core   +5 more sources

CONGENITAL MYOPATHIES – CENTRONUCLEAR MYOPATHIES [PDF]

Neuromuscular Disorders, 2021
Wolfgang Raffelsberger, Sarah Djerroud, Sarah Djeddi, X. Massana-Muñoz, Alexia Menuet, S. Freismuth, Olivier M. Dorchies, David Reiss, Christine Kretz, J. de Carvalho Neves, Julie D. Thompson, Jocelyn Laporte, A. Sosson, Céline Keime   +13 more
  +11 more sources

The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis. [PDF]

, 2020
Background: The cytokine growth differentiation factor-15 (GDF-15) has been associated with inflammatory and mitochondrial disease, warranting exploration of its expression in myositis patients.
De Bleecker, Jan, De Paepe, Boel, Verhamme, Fien   +2 more
core   +2 more sources

Nemaline myopathy in newly diagnosed systemic lupus erythematosus and Sjögren’s overlap syndrome complicated by macrophage activation syndrome

BMC Rheumatology, 2022
Background Nemaline myopathies are congenital or acquired muscle disorders that typically present in childhood but can occasionally occur in adults with underlying malignant, infectious or autoimmune disorders.
Christina Vogel, Poonam Manwani, Marcia E. Cornford, Emil R. Heinze   +3 more
doaj   +1 more source

Myopathies

Reviews in Clinical Gerontology, 1991
Myopathy is a convenient shorthand term meaning muscle disease or dysfunction. In other words, the myopathies are those conditions in which the patient’s symptoms and signs can be attributed to a pathological process affecting either the structure of muscle fibres or their associated interstitial tissues, or to disturbance of the biochemical or ...
openaire   +3 more sources

Endocrine myopathy: Case-based review

Journal of Dr. NTR University of Health Sciences, 2016
Endocrine myopathy means muscle weakness in the presence of an abnormal endocrine state. Most of the endocrine disorders are associated with myopathy and it is usually reversible with correction of the underlying disturbance, though, there is an ...
Babul Reddy Hanmayyagari, Mounika Guntaka, Voleti Sri Nagesh, Sridevi Paladugu, Srinivas Kasha   +4 more
doaj   +1 more source

Crystal structures of the human Dysferlin inner DysF domain [PDF]

, 2014
Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R., Keep, Nicholas H., Orengo, C., Sula, Altin, Yeats, C.   +4 more
core   +1 more source

GNE myopathy: from clinics and genetics to pathology and research strategies

Orphanet Journal of Rare Diseases, 2018
GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos   +4 more
doaj   +1 more source