Cost-Effectiveness of Telaprevir in Genotype 1 Chronic Hepatitis C Virus (HCV) Infection in Argentina [PDF]
, 2013 Sebastián García Martí +12 more
openalex +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
The incubation period of hepatitis E genotype 1: insights from pooled analyses of travellers [PDF]
, 2018 Andrew S. Azman +5 more
openalex +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Baseline HCV‐RNA levels in genotype 1 chronic hepatitis C patients: The role of different cut‐off points [PDF]
, 2016 Marı́a Buti +3 more
openalex +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Bovine Viral Diarrhea Virus Cytopathic and Noncytopathic Biotypes and Type 1 and 2 Genotypes in Diagnostic Laboratory Accessions: Clinical and Necropsy Samples from Cattle [PDF]
, 2000 Robert W. Fulton +8 more
openalex +1 more source
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
Human Pappilomavirus Genotype in Cervical Tissue of Patients with Cervical Intraepithelial Neoplasia (CIN) 1, CIN 2, and CIN 3 [PDF]
, 2016 Objectives: to determine the genotype of HPV in patients with precancerous lesions of cervical tissue.Materials and Methods: An observational study with cross sectional study of patients paraffin block CIN1, CIN2, CIN3 was conducted in Dr Soetomo ...
Alia, R. (Rahmi) +4 more
core +1 more source