Results 41 to 50 of about 256,729 (300)

Treatment for inclusion body myositis [PDF]

open access: yes, 2015
Background Inclusion body myositis (IBM) is a late-onset inflammatory muscle disease (myopathy) associated with progressive proximal and distal limb muscle atrophy and weakness.
Brassington, Ruth   +7 more
core   +2 more sources

Potential therapeutic targeting of BKCa channels in glioblastoma treatment

open access: yesMolecular Oncology, EarlyView.
This review summarizes current insights into the role of BKCa and mitoBKCa channels in glioblastoma biology, their potential classification as oncochannels, and the emerging pharmacological strategies targeting these channels, emphasizing the translational challenges in developing BKCa‐directed therapies for glioblastoma treatment.
Kamila Maliszewska‐Olejniczak   +4 more
wiley   +1 more source

BDNF-dependent modulation of axonal transport is selectively impaired in ALS

open access: yesActa Neuropathologica Communications, 2022
Axonal transport ensures long-range delivery of essential cargoes between proximal and distal compartments, and is needed for neuronal development, function, and survival.
Andrew P. Tosolini   +5 more
doaj   +1 more source

miR126-5p Downregulation Facilitates Axon Degeneration and NMJ Disruption via a Non-Cell-Autonomous Mechanism in ALS. [PDF]

open access: yes, 2018
Axon degeneration and disruption of neuromuscular junctions (NMJs) are key events in amyotrophic lateral sclerosis (ALS) pathology. Although the disease\u27s etiology is not fully understood, it is thought to involve a non-cell-autonomous mechanism and ...
Behar, Oded   +10 more
core   +2 more sources

In‐Depth Profiling Highlights the Effect of Efgartigimod on Peripheral Innate and Adaptive Immune Cells in Myasthenia Gravis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin   +11 more
wiley   +1 more source

Choroid plexus enlargement in amyotrophic lateral sclerosis patients and its correlation with clinical disability and blood-CSF barrier permeability

open access: yesFluids and Barriers of the CNS
Background Using in vivo neuroimaging techniques, growing evidence has demonstrated that the choroid plexus (CP) volume is enlarged in patients with several neurodegenerative diseases, including Alzheimer’s disease and Parkinson’s disease.
Tingjun Dai   +16 more
doaj   +1 more source

Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review

open access: yesSkeletal Muscle, 2022
Background Choline kinase beta (CHKB) catalyzes the first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine via the Kennedy pathway.
Francesca Magri   +16 more
doaj   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

Clinical outcome measures following plasma exchange for MG exacerbation

open access: yesAnnals of Clinical and Translational Neurology, 2019
Our objective is to report longitudinal results of the MG‐ADL, MG‐Composite, MG‐MMT, and MG‐QoL15 in an open‐label trial of therapeutic plasma exchange in myasthenia gravis.
Shruti M. Raja   +5 more
doaj   +1 more source

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

open access: yesNature Communications, 2022
Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist ...
William L. Macken   +22 more
doaj   +1 more source

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