Journal articles on the topic 'Myotonia; Muscle'
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Bretag, Allan H. "Myotonic diseases since Asmus Julius Thomas Thomsen (1815–1896) and Peter Emil Becker (1908–2000)." Proceedings of the Royal Society of Victoria 127, no. 1 (2015): 59. http://dx.doi.org/10.1071/rs15005.
Full textFanning, Lorna, and Mary MacDermott. "Effect of Temperature Reduction on Myotonia in Rat Skeletal Muscles in vitro." Clinical Science 92, no. 6 (June 1, 1997): 587–92. http://dx.doi.org/10.1042/cs0920587.
Full textЛихачев, С. А., А. В. Астапенко, И. П. Марьенко, Т. В. Корбут, and Е. С. Степанова. "Dystrophic Myotonia of Rossolimo – Steinert – Kurshman, Sporadic Case. Clinical Observation." Неврология и нейрохирургия. Восточная Европа, no. 1 (April 29, 2020): 120–26. http://dx.doi.org/10.34883/pi.2020.10.1.050.
Full textNikitin, S. S., V. N. Grigoryeva, K. A. Mashkovich, O. L. Mironovich, N. V. Ryadninskaya, and A. V. Polyakov. "Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report." Neuromuscular Diseases 9, no. 4 (January 10, 2020): 51–56. http://dx.doi.org/10.17650/2222-8721-2019-9-4-51-56.
Full textMagnussen, Marcus, Ioannis Karakis, and Taylor B. Harrison. "The Myotonic Plot Thickens: Electrical Myotonia in Antimuscle-Specific Kinase Myasthenia Gravis." Case Reports in Neurological Medicine 2015 (2015): 1–4. http://dx.doi.org/10.1155/2015/242691.
Full textRicker, K. "The expanding clinical and genetic spectrum of the myotonic dystrophies." Neurology Bulletin XXXIII, no. 1-2 (May 15, 2001): 115–16. http://dx.doi.org/10.17816/nb79796.
Full textBandschapp, Oliver, Hans F. Ginz, Charles L. Soule, Thierry Girard, Albert Urwyler, and Paul A. Iaizzo. "In Vitro Effects of Propofol and Volatile Agents on Pharmacologically Induced Chloride Channel Myotonia." Anesthesiology 111, no. 3 (September 1, 2009): 584–90. http://dx.doi.org/10.1097/aln.0b013e3181b05f23.
Full textKronlage, Cornelius, Alexander Grimm, Alyssa Romano, Jan-Hendrik Stahl, Pascal Martin, Natalie Winter, and Justus Marquetand. "Muscle Ultrasound Shear Wave Elastography as a Non-Invasive Biomarker in Myotonia." Diagnostics 11, no. 2 (January 23, 2021): 163. http://dx.doi.org/10.3390/diagnostics11020163.
Full textKarras, Georgios, Evangelia Nikouli, and Bulent Kiamiloglou. "Laparoscopic cholecystectomy under total intravenous anaesthesia in a patient with myotonic dystrophy type 1 (Steinert’s disease) – a case report." Folia Medica 64, no. 2 (April 30, 2022): 333–36. http://dx.doi.org/10.3897/folmed.64.e59905.
Full textLueck, John D., Ami Mankodi, Maurice S. Swanson, Charles A. Thornton, and Robert T. Dirksen. "Muscle Chloride Channel Dysfunction in Two Mouse Models of Myotonic Dystrophy." Journal of General Physiology 129, no. 1 (December 11, 2006): 79–94. http://dx.doi.org/10.1085/jgp.200609635.
Full textVita, Gary M., Antonel Olckers, Anne E. Jedlicka, Alfred L. George, Terry Heiman-Patterson, Henry Rosenberg, Jeffrey E. Fletcher, and Roy C. Levitt. "Masseter Muscle Rigidity Associated with Glycine1306-to- Alanine Mutation in the Adult Muscle Sodium Channel α-Subunit Gene." Anesthesiology 82, no. 5 (May 1, 1995): 1097–103. http://dx.doi.org/10.1097/00000542-199505000-00002.
Full textPalmio, Johanna, Satu Sandell, Michael G. Hanna, Roope Männikkö, Sini Penttilä, and Bjarne Udd. "Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene." Neurology 88, no. 16 (March 22, 2017): 1520–27. http://dx.doi.org/10.1212/wnl.0000000000003846.
Full textReifer, H., and E. Sobel. "Contrasts in clinical presentation and genetic transmission of myotonic dystrophy." Journal of the American Podiatric Medical Association 88, no. 7 (July 1, 1998): 313–22. http://dx.doi.org/10.7547/87507315-88-7-313.
Full textBehrens, M. I., and C. Vergara. "Increase of apamin receptors in skeletal muscle induced by colchicine: possible role in myotonia." American Journal of Physiology-Cell Physiology 263, no. 4 (October 1, 1992): C794—C802. http://dx.doi.org/10.1152/ajpcell.1992.263.4.c794.
Full textChu, Kon, Jin-Whan Cho, Eun-Chol Song, and Beom S. Jeon. "A Patient with Proximal Myotonic Myopathy and Parkinsonism." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 29, no. 2 (May 2002): 188–90. http://dx.doi.org/10.1017/s0317167100121006.
Full textHasan, Syed Shakir. "Anesthetic management of a patient with myotonia congenita." Anaesthesia, Pain & Intensive Care 25, no. 6 (December 19, 2021): 816–18. http://dx.doi.org/10.35975/apic.v25i6.1712.
Full textBraz, Luís, Ricardo Soares-dos-Reis, Mafalda Seabra, Fernando Silveira, and Joana Guimarães. "Brody disease: when myotonia is not myotonia." Practical Neurology 19, no. 5 (April 17, 2019): 417–19. http://dx.doi.org/10.1136/practneurol-2019-002224.
Full textNadaj-Pakleza, Aleksandra. "Hypertrophie musculaire : signe de bonne santé ou de maladie ?" Les Cahiers de Myologie, no. 25 (July 2022): 10–15. http://dx.doi.org/10.1051/myolog/202225004.
Full textHill, SL, GD Shelton, and TM Lenehan. "Myotonia in a cocker spaniel." Journal of the American Animal Hospital Association 31, no. 6 (November 1, 1995): 506–9. http://dx.doi.org/10.5326/15473317-31-6-506.
Full textAnderson, B. J., and T. C. K. Brown. "Congenital Myotonic Dystrophy in Children — A Review of Ten Years’ Experience." Anaesthesia and Intensive Care 17, no. 3 (August 1989): 320–24. http://dx.doi.org/10.1177/0310057x8901700313.
Full textSugino, M., N. Ohsawa, T. Ito, S. Ishida, H. Yamasaki, F. Kimura, and K. Shinoda. "A pilot study of dehydroepiandrosterone sulfate in myotonic dystrophy." Neurology 51, no. 2 (August 1998): 586–89. http://dx.doi.org/10.1212/wnl.51.2.586.
Full textPapadimas, Georgios K., Constantinos Papadopoulos, Kyriaki Kekou, Chrisoula Kartanou, Athina Kladi, Evangelia Nitsa, Christalena Sofocleous, et al. "A Greek National Cross-Sectional Study on Myotonic Dystrophies." International Journal of Molecular Sciences 23, no. 24 (December 7, 2022): 15507. http://dx.doi.org/10.3390/ijms232415507.
Full textBell, E., A. R. Lorimer, and J. Hinnie. "Association between Myotonic Dystrophy and Primary Hyperparathyroidism." Journal of International Medical Research 22, no. 5 (September 1994): 296–98. http://dx.doi.org/10.1177/030006059402200508.
Full textArnold, W. David, David Kline, Alan Sanderson, Ahmed A. Hawash, Amy Bartlett, Kevin R. Novak, Mark M. Rich, and John T. Kissel. "Open-label trial of ranolazine for the treatment of myotonia congenita." Neurology 89, no. 7 (July 14, 2017): 710–13. http://dx.doi.org/10.1212/wnl.0000000000004229.
Full textBraga, I. S., K. Oda, T. Kikuchi, S. Tanaka, Y. Shin, M. Sento, C. Itakura, and M. Mizutani. "A New Inherited Muscular Disorder in Japanese Quails (Coturnix coturnix japonica)." Veterinary Pathology 32, no. 4 (July 1995): 351–60. http://dx.doi.org/10.1177/030098589503200403.
Full textCea, Gabriel, Daniel Andreu, Elaine Fletcher, Sithara Ramdas, Richa Sud, Michael G. Hanna, and Emma Matthews. "Sodium channel myotonia may be associated with high-risk brief resolved unexplained events." Wellcome Open Research 5 (March 31, 2020): 57. http://dx.doi.org/10.12688/wellcomeopenres.15798.1.
Full textCea, Gabriel, Daniel Andreu, Elaine Fletcher, Sithara Ramdas, Richa Sud, Michael G. Hanna, and Emma Matthews. "Sodium channel myotonia may be associated with high-risk brief resolved unexplained events." Wellcome Open Research 5 (May 12, 2020): 57. http://dx.doi.org/10.12688/wellcomeopenres.15798.2.
Full textVarkey, B. "Muscle hypertrophy in myotonia congenita." Journal of Neurology, Neurosurgery & Psychiatry 74, no. 3 (March 1, 2003): 338. http://dx.doi.org/10.1136/jnnp.74.3.338.
Full textSu, Tzu-Rong, Wen-Shan Zei, Ching-Chyuan Su, George Hsiao, and Min-Jon Lin. "The Effects of the KCNQ Openers Retigabine and Flupirtine on Myotonia in Mammalian Skeletal Muscle Induced by a Chloride Channel Blocker." Evidence-Based Complementary and Alternative Medicine 2012 (2012): 1–9. http://dx.doi.org/10.1155/2012/803082.
Full textKetley, Ami, Marzena Wojciechowska, Sonja Ghidelli-Disse, Paul Bamborough, Tushar K. Ghosh, Marta Lopez Morato, Saam Sedehizadeh, et al. "CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model." Science Translational Medicine 12, no. 541 (April 29, 2020): eaaz2415. http://dx.doi.org/10.1126/scitranslmed.aaz2415.
Full textYadava, Ramesh S., Yun K. Kim, Mahua Mandal, Karunasai Mahadevan, Jordan T. Gladman, Qing Yu, and Mani S. Mahadevan. "MBNL1 overexpression is not sufficient to rescue the phenotypes in a mouse model of RNA toxicity." Human Molecular Genetics 28, no. 14 (April 1, 2019): 2330–38. http://dx.doi.org/10.1093/hmg/ddz065.
Full textFinsterer, J., C. Stöllberger, A. Reining-Festa, M. Loewe-Grgurin, and M. Gencik. "Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion." Balkan Journal of Medical Genetics 21, no. 2 (December 31, 2018): 39–43. http://dx.doi.org/10.2478/bjmg-2018-0024.
Full textTroshina, Ekaterina A., Elena A. Panfilova, and Taras S. Panevin. "Autoimmune polyglandular disorders in myotonic dystrophy." Problems of Endocrinology 65, no. 3 (September 12, 2019): 155–60. http://dx.doi.org/10.14341/probl9775.
Full textDe Bellis, Michela, Brigida Boccanegra, Alessandro Giovanni Cerchiara, Paola Imbrici, and Annamaria De Luca. "Blockers of Skeletal Muscle Nav1.4 Channels: From Therapy of Myotonic Syndrome to Molecular Determinants of Pharmacological Action and Back." International Journal of Molecular Sciences 24, no. 1 (January 3, 2023): 857. http://dx.doi.org/10.3390/ijms24010857.
Full textWakeman, Bradley, Deepti Babu, Jack Tarleton, and Ian M. MacDonald. "Extraocular muscle hypertrophy in myotonia congenita." Journal of American Association for Pediatric Ophthalmology and Strabismus 12, no. 3 (June 2008): 294–96. http://dx.doi.org/10.1016/j.jaapos.2007.12.002.
Full textSUNOHARA, Nobuhiko, Hideaki TOMI, Akinori NAKAMURA, Kiichi ARAHATA, and Ikuya NONAKA. "Myotonia Congenita with Painful Muscle Cramps." Internal Medicine 35, no. 6 (1996): 507–11. http://dx.doi.org/10.2169/internalmedicine.35.507.
Full textVarga, Dávid, and Endre Pál. "A dystrophia myotonica 1-es típusának sokszervi megjelenése." Orvosi Hetilap 160, no. 37 (September 2019): 1447–54. http://dx.doi.org/10.1556/650.2019.31505.
Full textMcGreal, Analise, Daniel Slagle, and Andrew Dickens. "Case Report: General Anesthetic Management for Laparoscopic Cholecystectomy in Paramyotonia Congenita." International Journal of Medical Students 8, no. 3 (December 9, 2020): 288–90. http://dx.doi.org/10.5195/ijms.2020.604.
Full textRicker, K., M. C. Koch, F. Lehmann-Horn, D. Pongratz, M. Otto, R. Heine, and R. T. Moxley. "Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts." Neurology 44, no. 8 (August 1, 1994): 1448. http://dx.doi.org/10.1212/wnl.44.8.1448.
Full textMilone, Margherita, Sat D. Batish, and Jasper R. Daube. "Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia." Muscle & Nerve 39, no. 3 (March 2009): 383–85. http://dx.doi.org/10.1002/mus.21150.
Full textScola, Rosana Herminia, Fabio Massaiti Iwamoto, Carlos Henrique Camargo, Walter Oleschko Arruda, and Lineu Cesar Werneck. "Myotonia congenita and myoadenylate deaminase deficiency: case report." Arquivos de Neuro-Psiquiatria 61, no. 2A (June 2003): 262–64. http://dx.doi.org/10.1590/s0004-282x2003000200019.
Full textTanigasalam, Vasanthan. "Myotonia in a child with muscle hypertrophy." Indian Pediatrics 54, no. 1 (January 2017): 58. http://dx.doi.org/10.1007/s13312-017-1000-y.
Full textKwiecińaski, Hubert, Frank Lehmann-Horn, and Reinhardt Rüdel. "Drug-induced myotonia in human intercostal muscle." Muscle & Nerve 11, no. 6 (June 1988): 576–81. http://dx.doi.org/10.1002/mus.880110609.
Full textKim, Youn Kyoung, and Sa-Yoon Kang. "Hyperkalemic Periodic Paralysis Caused by a Mutation in the Sodium Channel SCN4A Gene." Journal of Medicine and Life Science 11, no. 1 (June 1, 2014): 5–7. http://dx.doi.org/10.22730/jmls.2014.11.1.5.
Full textBrooks, EK, D. Schweitzer, and HL Robinson. "A case of paramyotonia congenita in pregnancy." Obstetric Medicine 13, no. 4 (January 31, 2019): 192–94. http://dx.doi.org/10.1177/1753495x18816171.
Full textMoxley, Richard T., Eric L. Logigian, William B. Martens, Chris L. Annis, Shree Pandya, Richard T. Moxley, Cheryl A. Barbieri, Nuran Dilek, Allen W. Wiegner, and Charles A. Thornton. "Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1)." Muscle & Nerve 36, no. 3 (2007): 320–28. http://dx.doi.org/10.1002/mus.20822.
Full textKoehorst, Emma, Alfonsina Ballester-Lopez, Virginia Arechavala-Gomeza, Alicia Martínez-Piñeiro, and Gisela Nogales-Gadea. "The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I." Journal of Clinical Medicine 9, no. 12 (December 4, 2020): 3939. http://dx.doi.org/10.3390/jcm9123939.
Full textFadoum, Hassan, Ibrahim Idriss Deka, Hlal Safa, Chikhi Fatima, Fellat Ibtissam, and Cherti Mohamed. "BIFASCICULAR BLOCK REVEALING STEINERTS MYOTONIC DYSTROPHY." International Journal of Advanced Research 10, no. 02 (February 28, 2022): 652–59. http://dx.doi.org/10.21474/ijar01/14250.
Full textKornblum, C., J. Reimann, and M. P. Wattjes. "Response: skeletal muscle MRI in recessive myotonia congenita." Acta Neurologica Scandinavica 124, no. 2 (July 7, 2011): 148. http://dx.doi.org/10.1111/j.1600-0404.2011.01487.x.
Full textBaumann, P., P. Siira, H. Vanharanta, and V. V. Myllylä. "Quantification of Muscle Strength in Recessive Myotonia congenita." European Neurology 36, no. 5 (1996): 284–87. http://dx.doi.org/10.1159/000117273.
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