Results 271 to 280 of about 8,658,473 (396)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó   +17 more
wiley   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer   +11 more
wiley   +1 more source

The dual effects of nanomaterials on sperm and seminal fluid oxidative stress. [PDF]

open access: yesMater Today Bio
Zhu L   +12 more
europepmc   +1 more source

SYHA1813, A VEGFR and CSF1R Inhibitor, in Patients With Recurrent High‐Grade Gliomas: A Multicenter, Open‐Label Phase I Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recurrent high‐grade gliomas have a poor prognosis and limited therapeutic options. This study aimed to evaluate the safety and efficacy of SYHA1813, a dual inhibitor of VEGFR and CSF1R, in patients with recurrent high‐grade gliomas.
Zhuang Kang   +16 more
wiley   +1 more source

THE EFFECT OF CORTISONE ON COLLAGEN SYNTHESIS IN VITRO

open access: hybrid, 1953
Horace W. Gerarde, Marion Jones
openalex   +1 more source

Adipokines and Associations with Incident Osteoporotic Fracture in Patients with Rheumatoid Arthritis

open access: yesArthritis Care &Research, Accepted Article.
Purpose We assessed whether circulating adipokines are associated with incident fractures in patients with rheumatoid arthritis (RA). Methods Three adipokines (adiponectin, leptin, fibroblast growth factor [FGF]‐21) were measured using banked enrollment serum from participants in a longitudinal RA cohort.
Joshua F. Baker   +9 more
wiley   +1 more source

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