Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease
ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett +8 more
wiley +1 more source
Medical Assistance in Dying in Canada: A Review for Canadian Dermatologists. [PDF]
DeBiasio C, Green S, Kirchhof MG.
europepmc +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
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
Liver transplantation from donors following medical assistance in dying: a scoping review and retrospective cohort study. [PDF]
Ganescu O +11 more
europepmc +1 more source
What's the status of medical assistance in dying in Canada? [PDF]
Duong D, Vogel L.
europepmc +1 more source
FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee +7 more
wiley +1 more source
Clinical Ethicists and Medical Assistance in Dying (MAiD): Possible Roles and Challenges. [PDF]
Finley-Roy V +3 more
europepmc +1 more source
Communicating contentious issues in Canada: Analyzing media discourse of medical assistance in dying (MAID) [PDF]
Taylor, Jessica
core
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
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
Understanding the Factors Explaining the Growing Use of Medical Assistance in Dying in Québec: Protocol for an Interdisciplinary Mixed Methods and Multimethods Study. [PDF]
Bouthillier MÈ +24 more
europepmc +1 more source

