Results 201 to 210 of about 10,435,022 (365)

Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey   +2 more
wiley   +1 more source

Harnessing exercise to combat chronic diseases: the role of Drp1-Mediated mitochondrial fission [PDF]

open access: gold
Yingxin Sun   +5 more
openalex   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron   +5 more
wiley   +1 more source

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco   +7 more
wiley   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle   +11 more
wiley   +1 more source

A complex case of mitochondrial disease in a 7-year-old child [PDF]

open access: diamond
Rakhitha Munasinghe   +3 more
openalex   +1 more source

Regional metabolic signatures in the Ndufs4(KO) mouse brain implicate defective glutamate/α-ketoglutarate metabolism in mitochondrial disease

open access: green, 2020
Simon C. Johnson   +11 more
openalex   +2 more sources

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