Results 141 to 150 of about 471,024 (280)
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
The endangered Panamanian golden frog, Atelopus zeteki, is a stream dweller of middle elevation rain forests of the Panamanian isthmus. In order to better understand this species for conservation, we set out to determine the nocturnal whereabouts of this
Erik D. Lindquist +4 more
doaj
Adult‐Onset Subacute Sclerosing Panencephalitis Presenting With Subacute Cognitive Deficits
ABSTRACT We describe the case of a 41‐year‐old man diagnosed with adult‐onset subacute sclerosing panencephalitis (SSPE). The patient presented with subacute progressive cognitive deficits and a neuropsychological profile indicating predominant frontoparietal dysfunction. MRI showed only mild parietal‐predominant cerebral atrophy.
Dennis Yeow +4 more
wiley +1 more source
Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller +6 more
wiley +1 more source
The role of the cerebellum in rock climbing
Chi‐Ying Lin, Sheng‐Han Kuo
openalex +2 more sources
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
Foundation of Swiss Therapeutic Climbing Association
Marina Müller +4 more
doaj +1 more source
Volitional EMG Control Enables Stair Climbing with a Robotic Powered Knee Prosthesis [PDF]
Suzi Creveling +4 more
openalex +1 more source
Objective Foot orthoses are thought to improve pain by potentially modifying internal mechanical forces. To test this, we explored whether foot orthoses can modify patterns of bone marrow lesions (BMLs) in people with midfoot pain. Methods Forty‐two people were recruited with midfoot pain, and magnetic resonance imaging–confirmed midfoot BMLs ...
Jill Halstead +4 more
wiley +1 more source

