Results 241 to 250 of about 3,374,176 (336)

Participant engagement and involvement in longitudinal cohort studies: qualitative insights from a selection of pregnancy and birth, twin, and family-based population cohort studies. [PDF]

open access: yesBMC Med Res Methodol
Budin-Ljøsne I   +18 more
europepmc   +1 more source

Biological variations and genetic reference values for apolipoprotein E serum concentrations: results from the STANISLAS cohort study [PDF]

open access: bronze, 1998
Monique Vincent‐Viry   +5 more
openalex   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee   +19 more
wiley   +1 more source

Transcriptomic profiling of immune modulation induced by vitamin D<sub>3</sub> in the VitDPAS and VitDHiD cohort studies. [PDF]

open access: yesSci Rep
Gospodarska E   +7 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

Classifying COVID-19 hospitalizations in epidemiology cohort studies: The C4R study. [PDF]

open access: yesPLoS One
Oelsner EC   +60 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy