Results 261 to 270 of about 429,063 (298)

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

Infecções osteoarticulares não vertebrais por Cândida spp. num hospital de alta complexidade em Medellín, Colômbia

open access: green, 2014
Carlos Ignacio Gómez Roldán   +14 more
openalex   +1 more source

Genome‐Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology

open access: yesMovement Disorders, EarlyView.
Abstract Background Recessive genetic variation and extended runs of homozygosity (ROHs) may contribute to the unexplained heritability of Parkinson's disease (PD), particularly in diverse and understudied populations. Objective We conducted the first large‐scale, multi‐ancestral investigation of PD to examine the impact of genome‐wide homozygosity on ...
Kathryn Step   +680 more
wiley   +1 more source

Temporal bone mass as the initial presentation of peripheral T-cell lymphoma in an infant: a case report. [PDF]

open access: yesBMC Pediatr
Forero-Sanchez AS   +4 more
europepmc   +1 more source

Descentralização na Colômbia: um modelo que se renova

open access: green, 1995
Bernal, Gerardo Lubin Burgos   +1 more
openalex   +1 more source

Clinical Outcome Assessments for Functional Performance in Spastic Paresis: Systematic Review, Critique, and Recommendations

open access: yesMovement Disorders, EarlyView.
Abstract Background Spastic paresis, resulting from central nervous system lesions, significantly impairs functional performance. In the framework of the International Classification of Functioning, Disability, and Health, functional performance was defined as functioning at the activity level in relation to the impairment of body functions and ...
Martina Hoskovcova   +13 more
wiley   +1 more source

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