Results 31 to 40 of about 45,552 (135)

A case of Miyoshi myopathy in clinical practice

Клинический разбор в общей медицине
Miyoshi myopathy belongs to the group of dysferlinopathies, rare myopathies, and therefore remains undiagnosed for a long time and currently has no etiopathogenetic treatment.
Nina B. Poletaeva, Olga V. Teplyakova, Olga V. Teplyakova, Polina K. Tsaplina   +3 more
doaj   +1 more source

Phenotype standardization for statin-induced myotoxicity. [PDF]

, 2014
Statins are widely used lipid-lowering drugs that are effective in reducing cardiovascular disease risk. Although they are generally well tolerated, they can cause muscle toxicity, which can lead to severe rhabdomyolysis.
Fahy, J., Neely, D, Fahy, J, Wadelius, M, Palmer, CN, Carr, D. F., Maitland-van Der Zee, AH, Laaksonen, R, Maitland-van Der Zee, A. H., Wadelius, M., Yue, QY, Chinoy, H.; id_orcid, Psaty, BM, Bloch, K. M., Cooper, R. G., Neely, D., Psaty, B. M., Chinoy, H., Pirmohamed, M., Chinoy, H, Palmer, C. N. A., Voora, D, Palmer, C. N. A.; id_orcid, Voora, D., Armitage, J., Wadelius, Mia,, Yue, Q. Y., Alfirevic, A., Alfirevic, A, Armitage, J, Palmer, C. N A, Pirmohamed, M, Palmer, PN, Hanson, A., Bloch, KM, Laaksonen, R., Cooper, RG, Yue, Q-Y, Wadelius, Mia, Carr, DF, Hanson, A   +40 more
core   +1 more source

Analysis on clinical phenotype and gene mutation of three cases of dysferlinopathy in two families

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To investigate clinical phenotype and gene mutation of dysferlinopathy. Methods The clinical manifestations, laboratory, imaging, neurophysiological examinations, myopathology and genetic test of 3 patients with dysferlinopathy in 2 Chinese ...
Hui-li ZHANG, Ze LI, Qiu-sheng CHENG, Xi CHEN, Yu-ling ZHU, Ya-qin LI, Meng-long CHEN, Cheng ZHANG   +7 more
doaj   +1 more source

Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

Frontiers in Neurology, 2020
Practice of sports during childhood or adolescence correlates with an earlier onset and more rapidly progressing phenotype in dysferlinopathies. To determine if this correlation relates to greater muscle pathology that persists into adulthood, we ...
Ursula Moore, Marni Jacobs, Marni Jacobs, Roberto Fernandez-Torron, Roberto Fernandez-Torron, Jaume LLauger Rossello, Fiona E. Smith, Meredith James, Anna Mayhew, Laura Rufibach, Pierre G. Carlier, Andrew M. Blamire, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, Jordi Diaz-Manera, Jordi Diaz-Manera, Jordi Diaz-Manera   +30 more
doaj   +1 more source

Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients [PDF]

, 1997
Miyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history ...
Wokke, J. H., van der Graaf, Y, de Jager, AEJ, DeVisser, M, de Jager, A. E., Linssen, WHJP, Notermans, N. C., VanDoorn, PA, Doorn, P.A. (Pieter) van, VanderGraaf, Y, Graaf, Y. (Yolanda) van der, DeJager, AEJ, de Jager, A.E.J., Notermans, N.C. (Nicolette), Busch, HFM (Herman), van Doorn, P.A., Busch, H.F.M., Notermans, NC, Höweler, C. J., Wokke, JHJ, Visser, M. (Marianne) de, van Doorn, Pieter; id_orcid, van der Graaf, Y., Linssen, W.H.J.P. (Wim), Wokke, J.H.J., van Doorn, Pieter, Höweler, C.J. (Chris), Busch, HFM, Busch, H.F.M. (Herman), Linssen, W. H., Busch, H. F., Wokke, J.H.J. (John), de Visser, M., Linssen, W.H.J.P., Notermans, N.C., Jager, A.E.J. (Aeiko) de, Howeler, CJ, Howeler, C.J., van Doorn, P. A., Visser, M   +39 more
core   +5 more sources

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Phenotypic Drug Screening for Dysferlinopathy Using Patient‐Derived Induced Pluripotent Stem Cells

Stem Cells Translational Medicine, 2019
Dysferlinopathy is a progressive muscle disorder that includes limb‐girdle muscular dystrophy type 2B and Miyoshi myopathy (MM). It is caused by mutations in the dysferlin (DYSF) gene, whose function is to reseal the muscular membrane.
Yuko Kokubu, Tomoko Nagino, Katsunori Sasa, Tatsuo Oikawa, Katsuya Miyake, Akiko Kume, Mikiko Fukuda, Hiromitsu Fuse, Ryuichi Tozawa, Hidetoshi Sakurai   +9 more
doaj   +1 more source

A Novel Dysferlin‐Binding Kinase CK2α Promotes Plasma Membrane Repair in Dysferlinopathy

The FASEB Journal, Volume 40, Issue 6, 31 March 2026.
When the cell membrane is injured, extracellular calcium enters the cell, triggering the accumulation of dysferlin at the lesion site. In the presence of dysferlin, CK2 is efficiently recruited to the damaged membrane and maintains its kinase activity through interaction with dysferlin.
Naoko Nakamura, Naoki Suzuki, Shin‐ichiro Kanno, Rei Yamanaka, Hiroya Ono, Rumiko Izumi, Rui Muliang, Christian Borgo, Akiyuki Ohno, Ryuhei Harada, Saki Saito, Yukino Funayama, Kensuke Ikeda, Shio Mitsuzawa, Yasuaki Watanabe, Tomomi Shijo, Tetsuya Akiyama, Toshiaki Takahashi, Makoto Kanzaki, Shion Osana, Hitoshi Warita, Yoshitsugu Aoki, Satoru Ebihara, Mauro Salvi, Ryoichi Nagatomi, Akira Yasui, Katsuya Miyake, Masashi Aoki   +27 more
wiley   +1 more source

A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY [PDF]

, 2011
the subject of the thesis research project, aims to characterize a murine model for spontaneous muscle pathology comparable to human "X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA)".
Iovane, Valentina
core   +1 more source

Correction: Efficient and Reproducible Myogenic Differentiation from Human iPS Cells: Prospects for Modeling Miyoshi Myopathy In Vitro

PLoS ONE, 2013
doaj   +1 more source