Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Myopathic disease"'
Autor:
Antonio Gómez-Torres, Francisco Esteban Ortega, Antonio Abrante Jiménez, Eloy Rivas Infante, Alicia Menoyo Bueno, Isabel Tirado Zamora
Publikováno v:
Acta Otorrinolaringologica (English Edition). 63:465-469
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant myopathic disease which provokes oropharyngeal dysphagia, palpabral ptosis and proximal limb weakness. It is the abnormal expression of the GCG triplet in the PABPN1 gene on chromosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d8f7e16ffa25a5217468deb136615d2
https://doi.org/10.1016/j.otoeng.2012.11.009
https://doi.org/10.1016/j.otoeng.2012.11.009
Publikováno v:
Circulation Research. 117
Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive disease that is result of mutations in the dystrophin gene and is the most common myopathic disease in humans with a prevalence of one in every 3500 males. Dystrophin is crucial for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::27ef48319f4e4c582d6344effbc90980
https://doi.org/10.1161/res.117.suppl_1.44
https://doi.org/10.1161/res.117.suppl_1.44
Publikováno v:
European Heart Journal. 24:970-976
Heart failure is characterised by a triad comprising cardiac abnormality, exercise limitation and neurohormonal activation. The 2% of the adult population who suffer with heart failure are known to derive both symptomatic and prognostic benefit from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ee11c4ac46c6afcab0853a08d3938a2
https://doi.org/10.1016/s0195-668x(03)00005-8
https://doi.org/10.1016/s0195-668x(03)00005-8
Publikováno v:
Journal of Pediatric Health Care. 15:287-290
Juvenile dermatomyositis (JDM) is a rare disease of unknown etiology that results in inflammation of the connective tissue of striated muscle, subcutaneous tissue, nail beds, and skin. Although JDM is a rare disease, occurring in 3 per 1 million chil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11b91ddbff64c662ba39bd1df7d75a05
https://doi.org/10.1016/s0891-5245(01)50100-5
https://doi.org/10.1016/s0891-5245(01)50100-5
Autor:
Douglas J. Coster, James G. Brooks
Publikováno v:
Australian and New Zealand Journal of Ophthalmology. 22:127-132
Arthrogryposis multiplex congenita refers to a group of birth defects characterised by multiple joint contractures. The syndrome is caused by neuropathic disease, myopathic disease, or any other cause of decreased fetal joint mobility. Multiple and u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d1e2ca85c375ed05573b9a8791be350
https://doi.org/10.1111/j.1442-9071.1994.tb00780.x
https://doi.org/10.1111/j.1442-9071.1994.tb00780.x
Autor:
Gregory J. Esper, Seward B. Rutkove
Publikováno v:
The Clinical Neurophysiology Primer ISBN: 9780896039964
Needle EMG remains an important part of the evaluation of the peripheral nervous system and can assist substantially in characterizing a variety of disease states. The needle electrode examination generally consists of three parts: evaluation of spon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::26e2e1119e6be711af70b6982cfab228
https://doi.org/10.1007/978-1-59745-271-7_14
https://doi.org/10.1007/978-1-59745-271-7_14
Publikováno v:
Current rheumatology reports. 3(4)
Amyopathic dermatomyositis is a •ariant of dermatomyositis that is characterized by the typical skin rash but without the muscle abnormalities. It has been proposed that the amyopathic and myopathic forms of dermatomyositis exist on a continuum, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23c84ba571a05f79d8b1cfec65d5f2d1
https://pubmed.ncbi.nlm.nih.gov/11470054
https://pubmed.ncbi.nlm.nih.gov/11470054
Autor:
Diane P.L. Smyth
Publikováno v:
Journal of the Neurological Sciences. 56:199-207
The technique of quantitative electromyography suitable for babies and young children is reviewed. The findings in 22 children with myopathic disease and 21 with neurogenic disease have been compared with the results from 25 children with no evidence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a307c11d67ad79a13a5fe1d855570002
https://doi.org/10.1016/0022-510x(82)90142-3
https://doi.org/10.1016/0022-510x(82)90142-3
Publikováno v:
Muscle & Nerve. 12:587-593
To clarify the discrepancies between earlier reports of electromyography (EMG) in congenital nemaline myopathy (CNM), conventional electromyography was done on 13 patients with CNM, and results were compared with those of 18 earlier EMG examinations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee1967997d4b497f1bce9cc4dae4b01c
https://doi.org/10.1002/mus.880120710
https://doi.org/10.1002/mus.880120710
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