Results 141 to 150 of about 272,523 (346)

Long‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives This ongoing, open‐label extension study is evaluating the long‐term safety, tolerability, and efficacy of givinostat, a Class I and II histone deacetylase inhibitor, in patients with Duchenne muscular dystrophy (DMD). Methods The recruited patients completed one of two prior clinical studies (one Phase 2 and one Phase 3 [EPIDYS ...
Craig M. McDonald   +74 more
wiley   +1 more source

Cognitive Impairment in Multiple Sclerosis: The Role of Clinical and Sociodemographic Factors ‐ A Systematic Review and Meta‐Analysis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive impairment (CI) affects the quality of life in multiple sclerosis (MS). Identifying influencing factors is key to improving CI monitoring. This systematic review and meta‐analysis examines clinical and sociodemographic variables impacting the cognitive screening Symbol Digit Modalities Test (SDMT) performance across MS ...
Katalin Lugosi   +8 more
wiley   +1 more source

Sukkula retrotransposon movements in the human genome

open access: yesBiotechnology & Biotechnological Equipment, 2017
Retrotransposons, a subclass of mobile genetic elements, have been discovered in many organisms. In this study, we identified a plant-specific retrotransposon (Sukkula) in the human genome (24 different DNA samples) by using retrotransposon-based ...
Buket Cakmak   +2 more
doaj   +1 more source

Characteristics of Cerebral Palsy in the Midwestern US

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebral palsy (CP) is the most common lifelong motor disability worldwide. Yet, data is limited on how CP manifests in the US. Our objective was to characterize and determine factors affecting functional outcomes in a large population of young people with CP in the Midwestern US.
Susie Kim   +6 more
wiley   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

open access: yesAnnals 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

From Species to Genes: A New Diagnostic Paradigm

open access: yesAntibiotics
Molecular diagnostics has the potential to revolutionise the field of clinical microbiology. Microbial identification and nomenclature have, for too long, been restricted to phenotypic characterisation.
Sinead Fahy   +3 more
doaj   +1 more source

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini   +13 more
wiley   +1 more source

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