Zobrazeno 1 - 10
of 370
pro vyhledávání: '"PERONEAL MUSCULAR-ATROPHY"'
Akademický článek
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Publikováno v:
Спортивная медицина: наука и практика, Vol 7, Iss 2, Pp 30-38 (2020)
Despite the success of multicentre molecular genetic studies in the field of hereditary neuromuscular diseases, the problem of complex treatment of this pathology remains relevant to this day. The main goal of therapy is to adapt patients to the dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f209b002c4b808a7301bedce1694ecf
https://www.smjournal.ru/jour/article/view/48
https://www.smjournal.ru/jour/article/view/48
Publikováno v:
Tankisi, H, Pugdahl, K & Fuglsang-Frederiksen, A 2020, ' Electrodiagnostic Testing of Large Fiber Polyneuropathies : A Review of Existing Guidelines ', Journal of Clinical Neurophysiology, vol. 37, no. 4, pp. 277-287 . https://doi.org/10.1097/WNP.0000000000000674
Electrodiagnostic testing for polyneuropathies is a large part of the diagnostic workup in all electrodiagnostic laboratories. Guidelines on examination and diagnostic strategies and classification of polyneuropathies are crucial for standardization
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37b6d2cf72efc34b696659df1b2a3e6a
https://doi.org/10.1097/wnp.0000000000000674
https://doi.org/10.1097/wnp.0000000000000674
Akademický článek
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Publikováno v:
World Journal of Clinical Oncology
World Journal of Clinical Oncology, 8 (5
World Journal of Clinical Oncology, 8 (5
Charcot-Marie-Tooth (CMT) neuropathy is the most common hereditary cause of neuropathy. Diagnosis is usually not made during the childhood but in adolescence or late adulthood. It is reported in the literature that some neurotoxic chemotherapeutical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ad043980e1efe557855acedffa6420
https://doi.org/10.5306/wjco.v8.i5.425
https://doi.org/10.5306/wjco.v8.i5.425
Publikováno v:
EFORT Open Reviews
Cavovarus deformity can be classified by the severity of malalignment ranging from a subtle and flexible to a severe and fixed cavovarus deformity of the foot. In the mild cavovarus foot, careful clinical assessment is required to identify the deform
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f29cc2a32a4741114feac841629392
https://doi.org/10.1302/2058-5241.2.160077
https://doi.org/10.1302/2058-5241.2.160077
Autor:
Brett J. Bordini, Priya Monrad
Publikováno v:
Pediatric Clinics of North America. 64:231-252
Differentiating Guillain-Barré syndrome (GBS) from inherited neuropathies and other acquired peripheral neuropathies requires understanding the atypical presentations of GBS and its variant forms, as well as historical and physical features suggesti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffb189a790fc594f9e795c9cd6eb8a7e
https://doi.org/10.1016/j.pcl.2016.08.015
https://doi.org/10.1016/j.pcl.2016.08.015
Akademický článek
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Autor:
Christopher J. Klein
Publikováno v:
Neurology. 90(10)
The evolution of the inherited neuropathy nomenclatures reflects each era's technology. We enter the molecular era and the promise of precision individualized medicine. In 1886, Charcot, Marie, and Tooth used their clinical acumen to summarize the ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b09f7946933608852200c55fe90e802
https://pubmed.ncbi.nlm.nih.gov/29429969
https://pubmed.ncbi.nlm.nih.gov/29429969
Autor:
Simon Barker, Carlos Neves, Neil Vargesson, Caroline Meharg, Amy M. Fraser, Zosia Miedzybrodzka, S. L. Duce, Zoe K. Ross, Masaru Nakamoto, Nils O. Lindström, Rebecca H. Charles, Kadri Oras, Ivan Mbogo, Karen Wallace, J. Martin Collinson
Publikováno v:
Collinson, J M, Lindstrom, N O, Neves, C, Wallace, K, Meharg, C, Charles, R H, Ross, Z K, Fraser, A M, Mbogo, I, Oras, K, Nakamoto, M, Barker, S, Duce, S, Miedzybrodzka, Z & Vargesson, N 2018, ' The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse ', Development, vol. 145, no. 3, 160093 . https://doi.org/10.1242/dev.160093
Collinson, J M, Lindström, N O, Neves, C, Wallace, K, Meharg, C, Charles, R H, Ross, Z K, Fraser, A M, Mbogo, I, Oras, K, Nakamoto, M, BArker, S, Duce, S, Miedzybrodzka, Z & Vargesson, N 2018, ' The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse ', Development (Cambridge, England), vol. 145, no. 3, dev160093 . https://doi.org/10.1242/dev.160093
Collinson, J M, Lindström, N O, Neves, C, Wallace, K, Meharg, C, Charles, R H, Ross, Z K, Fraser, A M, Mbogo, I, Oras, K, Nakamoto, M, BArker, S, Duce, S, Miedzybrodzka, Z & Vargesson, N 2018, ' The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse ', Development (Cambridge, England), vol. 145, no. 3, dev160093 . https://doi.org/10.1242/dev.160093
Genetic factors underlying the human limb abnormality congenital talipes equinovarus (‘clubfoot’) remain incompletely understood. The spontaneous autosomal recessive mouse ‘peroneal muscular atrophy’ mutant (PMA) is a faithful morphological m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09e9a173d6dba833d9a4e885d6530404
https://doi.org/10.1242/dev.160093
https://doi.org/10.1242/dev.160093