Results 231 to 240 of about 2,386,903 (272)
Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano+15 more
wiley +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
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
On the Construction, Organization, and General Arrangements of Hospitals for the Insane [PDF]
Thomas S. Kirkbride
openalex +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
Art. VIII.—Clinical reports of rare cases, occurring in the Whitworth and Hardwicke Hospitals [PDF]
Samuel Gordon
openalex +1 more source
Glycosylation Gene Signatures as Prognostic Biomarkers in Glioblastoma
ABSTRACT Objective Glioblastoma (GBM) is an aggressive brain tumor characterized by significant heterogeneity. This study investigates the role of glycosylation‐related genes in GBM subtyping, prognosis, and response to therapy. Methods We analyzed mRNA expression data and clinical information from The Cancer Genome Atlas (TCGA) and Gene Expression ...
Tong Zhao+4 more
wiley +1 more source