Cocaine-induced gene regulation in D1 and D2 neuronal ensembles of the nucleus accumbens. [PDF]
Mews P+4 more
europepmc +1 more source
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
Typology of Self-injurious Behaviors Admitted to a Tertiary Care Hospital. [PDF]
Jayan AP+4 more
europepmc +1 more source
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero+15 more
wiley +1 more source
Gaps in the Ottawa Statement on the Ethical Design and Conduct of Cluster Randomized Trials: a citation analysis reveals a need for updated ethics guidelines. [PDF]
Goldstein CE+26 more
europepmc +1 more source
A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme
ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang+4 more
wiley +1 more source
Bayesian optimized parameter selection for density-based clustering applied to single molecule localization microscopy. [PDF]
Hammer JL, Devanny AJ, Kaufman LJ.
europepmc +1 more source
Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden+15 more
wiley +1 more source