Results 191 to 200 of about 922,338 (333)
They don't want to close Roxy: a qualitative account on the perceived efforts by Ivory Coast to end the informal market for medicines. [PDF]
Health Policy OpenChimhutu V, Dagrou A, Tanyanyiwa AT.
europepmc +1 more source
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann +6 more
wiley +1 more source
What is presentation? Why do we do it? Who is it for? How to do it? [PDF]
J R Soc MedBhugra D.
europepmc +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals 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
Towards ensuring reproducibility of outsourced data generation. [PDF]
PLoS BiolSloan DB, Stenglein MD.
europepmc +1 more source
Editorial: Is the dollar ‘Too Big to Fail’? [PDF]
, 2010 Kirk Dombrowski +2 more
openalex +1 more source
Quantitative Assessment of Upper Limb Ataxia Using a Virtual Reality‐Based Evaluation System
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cerebellar ataxia impairs coordination and balance, reducing quality of life. Conventional clinical scales, including the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS), are widely used to assess ataxia but are limited by subjectivity and inter‐rater variability ...
Masayuki Sato +5 more
wiley +1 more source
Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong +7 more
wiley +1 more source