Results 141 to 150 of about 471,024 (280)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Nocturnal position in the Panamanian Golden Frog, Atelopus zeteki (Anura, Bufonidae), with notes on fluorescent pigment tracking

open access: yesPhyllomedusa: Journal of Herpetology, 2007
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

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

open access: yesSports Psychiatry
Marina Müller   +4 more
doaj   +1 more source

Volitional EMG Control Enables Stair Climbing with a Robotic Powered Knee Prosthesis [PDF]

open access: green, 2023
Suzi Creveling   +4 more
openalex   +1 more source

Effect of Foot Orthoses on Midfoot Pain and the Volume of Bone Marrow Lesions in the Midfoot: A Randomized Mechanism of Action Study

open access: yesArthritis Care &Research, EarlyView.
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

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