Results 271 to 280 of about 7,398,608 (386)

<i>Hydatigera parva</i> population genetics in Iberian rodents provides insights into its introduction from Africa. [PDF]

open access: yesParasitology
Miljević M   +6 more
europepmc   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

Sample Size Impact (SaSii): An R script for estimating optimal sample sizes in population genetics and population genomics studies. [PDF]

open access: yesPLoS One
Scaketti M   +9 more
europepmc   +1 more source

Dysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Individuals with primary progressive apraxia of speech (PPAOS) often develop parkinsonism and dysphagia. To evaluate the clinical correlates and impact of dysphagia in this population, we compared enrollment visit data between individuals with (n = 12) versus individuals without (n = 44) dysphagia symptoms.
Gabriela Meade   +8 more
wiley   +1 more source

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini   +24 more
wiley   +1 more source

Population genetics of Babesia vogeli based on the mitochondrial cytochrome b gene. [PDF]

open access: yesSci Rep
Kumari A   +6 more
europepmc   +1 more source

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu   +12 more
wiley   +1 more source

Populations

open access: yesRestoration Ecology, 2012
Johan van de Koppel   +2 more
openaire   +4 more sources

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