Results 121 to 130 of about 182,997 (357)

Recipients of electric-powered indoor/outdoor wheelchairs provided by a National Health Service: A cross-sectional study [PDF]

open access: yes, 2013
This is the post-print version of the final paper published in Archives of Physical Medicine and Rehabilitation. The published article is available from the link below.
Albright   +42 more
core   +1 more source

Dynamic expression of lamin B1 during adult neurogenesis in the vertebrate brain

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background In mammals, specific brain regions such as the dentate gyrus (DG) of the hippocampus and the subventricular zone (SVZ) of the lateral ventricles harbor adult neural stem/progenitor cells (ANSPCs) that give rise to new neurons and contribute to structural and functional brain plasticity.
Diana Zhilina   +12 more
wiley   +1 more source

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

open access: yesOrphanet Journal of Rare Diseases, 2017
Background Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an
Katherine Johnson   +16 more
doaj   +1 more source

The Heart in Progressive Muscular Dystrophy [PDF]

open access: bronze, 1951
Jacob Zatuchni   +3 more
openalex   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

open access: yesEnvironmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons   +17 more
wiley   +1 more source

Review: Dystroglycan in the Nervous System [PDF]

open access: yes, 2007
Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

RIBOSURIA IN MUSCULAR DYSTROPHY [PDF]

open access: bronze, 1953
W.B. Matthews, M. J. H. Smith
openalex   +1 more source

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