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pro vyhledávání: '"Xirou S"'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::df20738865f7841f2f2664fe83ccd272
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997172
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997172
Objective: Dysfunction of social cognition is well-recognized as one of amyotrophic lateral sclerosis (ALS) cognitive impairments. Previous studies have mostly associated social cognition subcomponents, including Theory of Mind (ToM), with executive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::daec13a776d37b5d4c1be62d427d33cc
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997271
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997271
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
Externí odkaz:
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
Aldolase A (ALDOA), is the predominant isoform of aldolase in skeletal muscle and erythrocytes that catalyzes the reversibleconversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate. Autosomal recessive mutations in ALDOA, are extremely r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::f8bb64894f30c6c020fd1cd5de4e4b8d
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3076436
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3076436
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::6c7b87923cc40b5ce01c30eefe2d84a0
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997232
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997232
Akademický článek
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Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::474b39cfa75880a169fc0c0a1809a7a1
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2981006
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2981006