Academic literature on the topic 'Myotonia; Muscle'
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Journal articles on the topic "Myotonia; Muscle"
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 textDissertations / Theses on the topic "Myotonia; Muscle"
Papponen, H. (Hinni). "The muscle specific chloride channel ClC-1 and myotonia congenita in Northern Finland." Doctoral thesis, University of Oulu, 2008. http://urn.fi/urn:isbn:9789514286926.
Full textTiivistelmä Lihasspesifisen kloridikanavan ClC-1:n toiminnalliset virheet johtavat alentuneeseen kloridin johtumiseen solukalvon läpi ja lihassolun ylieksitoitumiseen. Tämän seurauksena lihaksen rentoutuminen vaikeutuu ja havaitaan myotoniaa, lihasjäykkyyttä. Pohjoissuomalaisesta potilasmateriaalista tautiin johtavia geenimutaatioita löytyi kolme erilaista. Poikkeuksellista havainnoissa on erilaisten mutaatioiden vähyys, mikä on tyypillistä suomalaiselle tautiperinnölle. Yhteensä tämän kloridikanavan mutaatioita on julkaistu yli 80 erilaista. Tutkiessamme normaalin ja mutatoidun ClC-1 lRNA:n ja proteiinin käyttäytymistä ja sijaintia lihassoluviljelmissä. Havaitsimme eron lihasleikkeiden ja eristettyjen myofiibereiden välillä. Lihasleikkeissä ClC-1 paikantui solun pinnalle sarkolemmalle, mutta eristetyissä myofiibereissä lähinnä solun sisälle. Stimuloimalla eristettyjä myofiibereitä sähkövirralla tai käsittelemällä proteiini kinaasi C inhibiittorilla, saimme kloridikanava-proteiinin siirtymään takaisin solun pinnalle. Proteiinitasolla kuljetuksessa on havaittavissa eroja. Aminohappomuutokseen johtavat pistemutaatiot aiheuttivat proteiinin jäämisen endoplasmiseen kalvostoon, kun taas ennenaikaisen stop-kodonin johdosta lyhentynyt proteiini kuljetetaan eteenpäin Golgin laitteeseen. Myotuubeissa tämä lyhentynyt proteiini kuitenkin hajotettiin nopeammin kuin normaali kloridikanavaproteiini. Sekä kuljetuksen hidastuminen että nopeampi hajotus johtavat tilanteeseen, jossa lihassolun solukalvolla on liian vähän kloridikanavia ylläpitämään lihaksen normaalia fysiologista toimintaa. Monitumaisten lihassolujen laaduntarkkailu havaittiin vielä monitahoisemmaksi kuin yksitumaisilla. Monitumainen lihassolu on riippuvainen hermoärsytyksestä ja lihasaktiivisuudesta. Lisäksi fosforylaatioon liittyvä signalointi on tärkeää ClC-1 proteiinin oikealle paikantumiselle lihassolussa
Chaiklieng, Sunisa. "Low chloride conductance myotonia - in vitro investigations on muscle stiffness and the warm-up phenomenon." [S.l. : s.n.], 2008. http://nbn-resolving.de/urn:nbn:de:bsz:289-vts-61365.
Full textHawash, Ahmed Alaa. "Persistent Inward Currents Play a Role in Muscle Dysfunction Seen inMyotonia Congenita." Wright State University / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=wright1500932300888521.
Full textFialho, D. "Clinical, genetic and electrophysiological study of skeletal muscle channelopathies : new insights into myotonia congenita and Andersen-Tawil syndrome." Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/18909/.
Full textStorbeck, Christopher J. "Effects of the myotonic dystrophy mutation in muscle differentiation and apoptosis." Thesis, University of Ottawa (Canada), 2002. http://hdl.handle.net/10393/6194.
Full textMatloka, Magdalena. "MBNL derivatives for therapeutic application in myotonic dystrophy." Electronic Thesis or Diss., Sorbonne université, 2019. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2019SORUS269.pdf.
Full textMyotonic dystrophy (DM) is an autosomal neuromuscular disease encompassing two distinct forms, type 1 (DM1) and type 2 (DM2), which are caused by abnormal microsatellite expansions of C(C)TG repeats in the 3’UTR of the DMPK and first intron of ZNF9 genes, respectively. Mutant RNAs carrying expanded repeats are retained in the nucleus as riboprotein aggregates that abnormally sequester MBNL splicing factors leading to alternative splicing misregulations associated with clinical symptoms. Although various therapeutic approaches for DM are under development, there is no effective therapy available so far. In this study, we designed a novel gene therapy strategy with the use of an engineered MBNL RNA-binding protein derivative that acts as a CUGexp-decoy to release sequestered endogenous MBNL factors and restore their proper functions. Expression of the decoy results in the correction of DM1-associated features in both in vitro and in vivo models of the disease. Subsequent optimization processes were applied to the engineered decoy and the most potent derivate that increases its functional capacity was selected for further therapeutic application. Additionally, we developed an autoregulatory system based on a splice-sensor strategy to control transgene product expression and provided a proof-of-concept of its efficacy in both in vitro and in vivo systems. In conclusion, my work establishes the potency of gene therapy treatment for DM and support the use of the decoy-based approach as an alternate or complementary therapeutic intervention for DM
Palada, Vinko [Verfasser]. "Molecular mechanisms of muscle pain associated with myotonic dystrophy type II / Vinko Palada." Berlin : Freie Universität Berlin, 2017. http://d-nb.info/1128150751/34.
Full textKiosses, Theodore. "DNA binding specificity and transcriptional regulation of Six4 : a myotonic dystrophy associated transcription factor." Thesis, University of Edinburgh, 2009. http://hdl.handle.net/1842/3948.
Full textWhiting, Elisabeth J. "Localization of the myotonic dystrophy kinase in human and rodent muscle and central nervous tissue." Thesis, University of Ottawa (Canada), 1995. http://hdl.handle.net/10393/9986.
Full textYAMAMOTO, SHUHEI. "Evaluation of Skeletal Muscle with Thallium-201 Scintigraphy in Myotonic Muscular Dystrophy: A Case Report." Nagoya University School of Medicine, 1987. http://hdl.handle.net/2237/17494.
Full textBooks on the topic "Myotonia; Muscle"
Fanning, Lorna. Factors influencing chemically induced myotonia in rat muscles. Dublin: University College Dublin, 1995.
Find full textShaibani, Aziz. Myotonia. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0021.
Full textNageshwaran, Sathiji, Heather C. Wilson, Anthony Dickenson, and David Ledingham. Disorders of muscle and neuromuscular junction. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199664368.003.0008.
Full textShaibani, Aziz. Myotonia. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0021.
Full textKennett, Robin P., and Sidra Aurangzeb. Primary muscle diseases. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199688395.003.0024.
Full textJohnson, Andrea. Myotonic Dystrophy. Edited by Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi, and Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0034.
Full textShaibani, Aziz. Gait Disorders. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0001.
Full textShaibani, Aziz. Gait Disorders. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0001.
Full textLahouti, Arash H., and Lisa Christopher-Stine. Toxic myopathies. Edited by Hector Chinoy and Robert Cooper. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198754121.003.0009.
Full textSwash, Michael. Myology. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199658602.003.0012.
Full textBook chapters on the topic "Myotonia; Muscle"
Anderson, Janice R. "Myotonia." In Atlas of Skeletal Muscle Pathology, 89–96. Dordrecht: Springer Netherlands, 1985. http://dx.doi.org/10.1007/978-94-009-4866-2_11.
Full textRuff, Robert L., and Barbara E. Shapiro. "Disorders of Skeletal Muscle Membrane Excitability: Myotonia Congenita, Paramyotonia Congenita, Periodic Paralysis, and Related Syndromes." In Neuromuscular Disorders in Clinical Practice, 1149–85. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-6567-6_53.
Full textReimers, Carl D., and Thomas J. Vogl. "Myotonic Disorders." In Muscle Imaging in Health and Disease, 237–43. New York, NY: Springer New York, 1996. http://dx.doi.org/10.1007/978-1-4612-2314-6_17.
Full textSchoser, Benedikt. "Myotonic Dystrophies Type 1 and 2." In Muscle Disease, 273–83. Oxford, UK: John Wiley & Sons, Ltd, 2013. http://dx.doi.org/10.1002/9781118635469.ch30.
Full textRussell, James W., M. D. Weiss, B. J. Distad, and R. J. Castellani. "Muscle and Myotonic Diseases." In Atlas of Neuromuscular Diseases, 247–81. Vienna: Springer Vienna, 2014. http://dx.doi.org/10.1007/978-3-7091-1605-0_11.
Full textFeldman, Eva L., James W. Russell, Wolfgang N. Löscher, Wolfgang Grisold, and Stefan Meng. "Muscle and Myotonic Diseases." In Atlas of Neuromuscular Diseases, 275–312. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-63449-0_14.
Full textTakahashi, Masanori P. "Clinical Features of Skeletal Muscle and Their Underlying Molecular Mechanism." In Myotonic Dystrophy, 45–61. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0508-5_3.
Full textChuah, Marinee, Yoke Chin Chai, Sumitava Dastidar, and Thierry VandenDriessche. "Gene Therapy and Gene Editing for Myotonic Dystrophy." In Muscle Gene Therapy, 525–48. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-03095-7_30.
Full textGriggs, R. C., V. Sansone, G. Meola, and R. T. Moxley. "Exercise Intolerance and Muscle Pain in Myotonic Disorders." In Exercise Intolerance and Muscle Contracture, 133–41. Paris: Springer Paris, 1999. http://dx.doi.org/10.1007/978-2-8178-0855-0_15.
Full textJockusch, Harald. "Muscle Fibre Transformations in Myotonic Mouse Mutants." In The Dynamic State of Muscle Fibers, edited by Dirk Pette, 429–44. Berlin, Boston: De Gruyter, 1990. http://dx.doi.org/10.1515/9783110884784-035.
Full textConference papers on the topic "Myotonia; Muscle"
Nowlan, Niamh C., Paula Murphy, and Patrick J. Prendergast. "Mechanical Stimuli Resulting From Embryonic Muscle Contractions Promote Avian Periosteal Bone Collar Formation." In ASME 2007 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2007. http://dx.doi.org/10.1115/sbc2007-172077.
Full textMoreira, João Victor Aguiar, Isabela Maria Bernardes Goulart, Diogo Fernandes dos Santos, Isabella Sabião Borges, Pedro Otávio Rego de Aguiar, Thaciany Soares Ferreira, Leonardo Peixoto Garcia, et al. "Bilateral diaphragmatic eventration and alveolar hypoventilation in congenital myotonic dystrophy." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.533.
Full textFregonezi, Guilherme, Morgana Araujo Evangelista, Fernando Dias, Mario Emilio Dourado Jr., Illia Nadine Dantas Florentino Lima, Vanessa Resqueti, and Andrea Aliverti. "Noninvasive assessment of respiratory muscle strenght and activity in myotonic dystrophy." In ERS International Congress 2016 abstracts. European Respiratory Society, 2016. http://dx.doi.org/10.1183/13993003.congress-2016.pa5040.
Full textvan Lunteren, Erik, Michelle Moyer, and Andrea Ladd. "Gene Expression Perturbations In Muscle Of A Mouse Model Of Myotonic Dystrophy." In American Thoracic Society 2012 International Conference, May 18-23, 2012 • San Francisco, California. American Thoracic Society, 2012. http://dx.doi.org/10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a2708.
Full textSpiesshoefer, Jens, Carolin Henke, Hans-Joachim Kabitz, Tobias Brix, Simon Herkenrath, Winfried Randerath, Peter Young, and Matthias Boentert. "Inspiratory muscle dysfunction relates to clinical disease severity in patients with type I myotonic dystrophy." In ERS International Congress 2019 abstracts. European Respiratory Society, 2019. http://dx.doi.org/10.1183/13993003.congress-2019.pa3930.
Full textBurian, Egon, Tobias Greve, Agnes Zoffl, Georg Feuerriegel, Sarah Schlaeger, Michael Dieckmeyer, Nico Sollmann, et al. "Regional Variation of Thigh Muscle Composition in Healthy Controls and Patients with Myotonic Dystrophy Type 2, Limb Girdle Muscular Dystrophy Type 2A, and Pompe’s Disease." In Abstracts of the Scientific Presentations of the 6th Annual Meeting of the DGMSR. Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1709541.
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