Results 151 to 160 of about 2,757,829 (251)

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer   +6 more
wiley   +1 more source

Progressive Supranuclear Palsy in India: Insights from a Large Multicenter Clinical Cohort (Project PAIR‐PSP)

open access: yesMovement Disorders Clinical Practice, EarlyView.
Background Progressive supranuclear palsy (PSP) is a rare and devastating tauopathy with limited global data. Given India's large population, genetic diversity, and clinical heterogeneity, large multicenter datasets are crucial to enrich global understanding of PSP. Objective To characterize the demographic, clinical, and phenotypic profiles of a large
Prashanth Lingappa Kukkle   +31 more
wiley   +1 more source

Characterizing the spiral: potential mechanisms in AI-associated delusions. [PDF]

open access: yesNPP Digit Psychiatry Neurosci
Augustin M, Pollak TA, Morrin H.
europepmc   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer   +15 more
wiley   +1 more source

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