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]
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]
Monique Vincent‐Viry+5 more
openalex +1 more source
Methods in cohort studies. [PDF]
openaire +3 more sources
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
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]
Gospodarska E+7 more
europepmc +1 more source
Dysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech
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
Association between endometriosis and type and age of menopause: a pooled analysis of 279 948 women from five cohort studies. [PDF]
Chung HF+7 more
europepmc +1 more source
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis
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]
Oelsner EC+60 more
europepmc +1 more source
Increased blood pressure in adolescents who were small for gestational age at birth: a cohort study in Brazil [PDF]
Fernando C. Barros, César G. Victora
openalex +1 more source