Zobrazeno 1 - 10
of 451
pro vyhledávání: '"Kararizou E"'
Publikováno v:
In Neuromuscular Disorders December 2014 24(12):1073-1078
Background: Differences have been noted in the clinical presentation and mutational spectrum of CADASIL among various geographical areas. The aim of the present study was to investigate the mode of clinical presentation and genetic mutations reported
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https://explore.openaire.eu/search/publication?articleId=od______2127::6fffd3bdc5a8c7b75089365f72c91c03
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2996873
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2996873
Muscular dystrophies are a group of disorders that cause progressive muscle weakness. There is an increasing interest for the development of biomarkers for these disorders and specifically for Duchene Muscular Dystrophy. Limited research however, has
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https://explore.openaire.eu/search/publication?articleId=od______2127::efe09038743596322afd0f320ffe5a27
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3219716
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3219716
Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are so
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https://explore.openaire.eu/search/publication?articleId=od______2127::a416996d673edae007fb2a4b4f1f7ac0
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3220116
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3220116
Background and purpose: Independent randomized controlled clinical trials (RCTs) have provided robust evidence for endovascular treatment (EVT) as the standard of care treatment for acute large vessel occlusions in the anterior circulation. We examin
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https://explore.openaire.eu/search/publication?articleId=od______2127::7562a2ab9078e6a442190ced55e5713b
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997150
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997150
Background: Myotonic dystrophy type 2 (DM2) is a neuromuscular disorder characterized by myotonia and muscle weakness, with no medical treatment to prevent a decline in decline. It is unknown whether exercise training is effective in DM2. The aim of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::72de4e087fde523bf4e415866f98a6f2
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997188
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997188
Myotonic dystrophies (DMs) are hereditary, multisystem, slowly progressive myopathies. One of the systems they affect is the CNS. In contrast to the well-established cognitive profile of myotonic dystrophy type 1 (DM1), only a few studies have invest
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https://explore.openaire.eu/search/publication?articleId=od______2127::2ede81ca247beec158f3e7fe3ea561ef
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2982584
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2982584
Late onset Pompe disease (LOPD) is a slowly progressive metabolic myopathy with variable clinical severity. The advent of enzyme replacement therapy (ERT) has modified the natural course of the disease, though the treatment effect on adult patients i
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https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997232
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997232
Introduction: Spinal muscular atrophy (SMA) most prominently affects proximal limb and bulbar muscles. Despite older case descriptions, ocular motor neuron palsies or other oculomotor abnormalities are not considered part of the phenotype. Methods: W
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https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997172
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997172
OBJECTIVE: Previous studies in phobic postural vertigo patients showed characteristic frequency changes in body sway fluctuations, raising the question whether similar spectral changes can be also observed in the recently defined syndrome of persiste
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https://explore.openaire.eu/search/publication?articleId=od______2127::be9965b8ba6ef642fb63a288dde93b86
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997020
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997020