يعرض 1 - 11 نتائج من 11 نتيجة بحث عن '"Miotonía congénita"', وقت الاستعلام: 0.37s تنقيح النتائج
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    Dissertation/ Thesis
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    Dissertation/ Thesis
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    Academic Journal

    المصدر: Portuguese Journal of Pediatrics; Vol. 27 No. 1 (1996); Pag. 449-452 ; Portuguese Journal of Pediatrics; Vol. 27 N.º 1 (1996); Pag. 449-452 ; 2184-4453 ; 2184-3333

    وصف الملف: application/pdf

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    Academic Journal
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    المساهمون: Gómez Mazuera, Angela, Pedraza-Flechas, Ana María, Educacion Médica y en Ciencias de la Salud

    المصدر: 1. Heatwole CH, Statland JM, Logigian EL. The diagnosis and treatment of myotonic disorders. Muscle Nerve. 2013; May;47(5):632-48. doi: 10.1002/mus.23683.
    2. Lossin C, George A. Myotonia congenita. Adv Genet. 2008;63:25-55
    3. Miller T. differential diagnosis of myotonic disorders. Muscle Nerve 2008; 37: 293–299
    4. Walters J. Muscle hypertrophy and pseudohypertrophy. Pract Neurol. 2017 Oct;17(5):369-379
    5. Johnson NE. Myotonic Muscular Dystrophies. Continuum (Minneap Minn). 2019 Dec;25(6):1682-1695.
    6. Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, et al. Guidelines on clinical presentation and management of nondystrophic myotonias. Muscle Nerve. 2020 October; 62(4): 430–444
    7. Horga A, Raja D, Matthews E, Sud R, Fialho D, Durran S, et al. Prevalence study of genetically defined skeletal muscle channelopathies in England. Neurology . 2013 Apr 16;80(16):1472-5
    8. Stunnenberg BC, Raaphorst J, Deenen JCW, Links TP, Wilde AA, Verbove DJ, et al. Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands. Neuromuscul Disord. 2018;28:402– 7.
    9. Bryan E, Alsaleem M. Myotonia Congenita. StatPearls Publishing; 2021 Jan.
    11. Sun C, Tranebjaerg L, Torbergsen T, Holmgren G, Van Ghelue M. Spectrum of CLCN1 8 mutations in patients with myotonia congenita in Northern Scandinavia. European journal of human 9 genetics : EJHG. 2001;9(12):903-9.
    12. Rivera C, Orostegui L, Mateus HE, Pulido F, Forero M, Parada D, et al. MIOTONÍA DE THOMSEN: REPORTE DE UNA FAMILIA AFECTADA. Rev. Cienc. Salud. 10 (3): 429-664 / 579
    13. Rodríguez LX. Miotonia congénita de becker en una familia colombiana. Reporte de 2 casos. Revista de la Universidad Industrial de Santander. Salud. 2017; 49 (1)
    14. Torres L, Vélez M, Cosentino C. Miotonía de Becker en Perú. REV NEUROL 2000; 30 (11): 1033-1036
    15. Maggi L, Bonanno S, Altamura C, Desaphy JF. Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy. Cells. 2021 Jun 16;10(6):1521.
    16. Phillips L, Trivedi J. Skeletal Muscle Channelopathies. Neurotherapeutics. 2018 Oct;15(4):954-965
    17. LoRusso S, Weiner B, Arnold D. Myotonic Dystrophies: Targeting Therapies for Multisystem Disease. Neurotherapeutics. 2018; 15:872–884
    18. Statland J, Phillips L, Trivedi J. Muscle channelopathies. Neurol Clin. 2014 Aug;32(3):801-15, x
    19. Quinn C, Salajegheh MQ. Myotonic Disorders and Channelopathies. Semin Neurol 2015;35:360–368
    20. Hahn C, Salajegheh MQ. Miotonic disorders: A review article. Iran J Neurol 2016 Jan 5; 15(1): 46–53.
    21. Cherian A, B Neeraj, Kuruvilla A. Muscle channelopathies and electrophysiological approach. Ann Indian Acad Neurol. 2008 Jan;11(1):20-7.
    22. Saperstein D. Muscle channelopathies. Semin Neurol. 2008 Apr;28(2):260-9.
    23. Rivedi JR, Bundy B, Statland J, et al. Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. Brain. 2013;136:2189–2200
    24. Kohler L, Puertollano R, Raben N. Pompe Disease: From Basic Science to Therapy. Neurotherapeutics. 2018 Oct;15(4):928-942
    25. Drost G, Stunnenberg BC, Trip J, et al. Myotonic discharges discriminate chloride from sodium muscle channelopathies. Neuromuscul Disord. 2015;25:73–80
    26. Raja D, Hanna M. Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. Curr Opin Neurol. 2010 Oct;23(5):466-76
    27. Statland J, Barohn R. Muscle channelopathies: the nondystrophic myotonias and periodic paralyses. Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1598-614
    28. Fournier E, Arzel M, Sternberg D, Vicart S, Laforet P, Eymard B, et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 2004; 56: 650–61.
    29. Suetterlin K, Männikkö R, Hanna M. Muscle channelopathies: recent advances in genetics, pathophysiology and therapy. Curr Opin Neurol . 2014 Oct;27(5):583-90
    30. Cannon S. Sodium Channelopathies of Skeletal Muscle. Handb Exp Pharmacol. 2018;246:309-330
    31. Jitpimolmard N, Matthews E, Fialho D. Treatment Updates for Neuromuscular Channelopathies. Curr Treat Options Neurol (2020) 22: 34
    Repositorio EdocUR-U. Rosario
    Universidad del Rosario
    instacron:Universidad del Rosario

    وصف الملف: 20 pp; application/pdf

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    Dissertation/ Thesis
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    Electronic Resource