Results 281 to 290 of about 4,772,082 (338)

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

Translating a Preclinically Tested 15 Hz rTMS Protocol to Humans With Chronic Spinal Cord Injury: A Safety and Feasibility Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Repetitive transcranial magnetic stimulation (rTMS) is a non‐invasive brain stimulation strategy with a demonstrated potential to reinforce the residual pathways after a spinal cord injury (SCI). A preclinically tested high‐frequency (15 Hz) rTMS (15 Hz rTMS) protocol was shown to induce corticospinal tract axon regeneration growth ...
Nabila Brihmat   +8 more
wiley   +1 more source

March5-mediated Trim28 degradation preserves islet β-cell function in mice. [PDF]

open access: yesNat Commun
Chen Y   +9 more
europepmc   +1 more source

Effects of Non‐Aspirin Nonsteroidal Anti‐Inflammatory Drugs on Acute Intracerebral Hemorrhage

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite celecoxib, a cyclooxygenase‐2 inhibitor, promoting functional recovery from intracerebral hemorrhage (ICH) by reducing inflammation‐mediated perihematomal edema in rat models, the evidence of its effects on patient outcomes remains limited.
Shin‐Joe Yeh   +3 more
wiley   +1 more source

Histone lactylation regulates DOCK4 to control heat nociception and supports Dynein-mediated Nav1.7 trafficking. [PDF]

open access: yesNat Commun
Xie MX   +12 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy