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Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics

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https://www.readbyqxmd.com/read/30426359/dynamin-2-dnm2-as-cause-of-and-modifier-for-human-neuromuscular-disease
#1
REVIEW
Mo Zhao, Nika Maani, James J Dowling
Dynamin 2 (DNM2) belongs to a family of large GTPases that are well known for mediating membrane fission by oligomerizing at the neck of membrane invaginations. Autosomal dominant mutations in the ubiquitously expressed DNM2 cause 2 discrete neuromuscular diseases: autosomal dominant centronuclear myopathy (ADCNM) and dominant intermediate Charcot-Marie-Tooth neuropathy (CMT). CNM and CMT mutations may affect DNM2 in distinct manners: CNM mutations may cause protein hyperactivity with elevated GTPase and fission activities, while CMT mutations could impair DNM2 lipid binding and activity...
November 13, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30426358/correction-to-the-therapy-of-congenital-myasthenic-syndromes
#2
Andrew G Engel
The third paragraph in the left column of page 256 of the article pertaining to the treatment of congenital choline acetyl transferase (ChAT) deficiency states that "Because apneic attacks occur suddenly in infants and children, the parents should be provided with an inflatable rescue bag."
November 13, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30414046/emerging-strategies-in-the-treatment-of-duchenne-muscular-dystrophy
#3
REVIEW
Perry B Shieh
Duchenne muscular dystrophy (DMD) is a progressive X-linked degenerative muscle disease due to mutations in the DMD gene. Genetic confirmation has become standard in recent years. Improvements in the standard of care for DMD have led to improved survival. Novel treatments for DMD have focused on reducing the dystrophic mechanism of the muscle disease, modulating utrophin protein expression, and restoring dystrophin protein expression. Among the strategies to reduce the dystrophic mechanisms are 1) inhibiting inflammation, 2) promoting muscle growth and regeneration, 3) reducing fibrosis, and 4) facilitating mitochondrial function...
November 9, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30406384/ryanodine-receptor-1-related-myopathies-diagnostic-and-therapeutic-approaches
#4
REVIEW
Tokunbor A Lawal, Joshua J Todd, Katherine G Meilleur
Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common class of congenital myopathies. Historically, RYR1-RM classification and diagnosis have been guided by histopathologic findings on muscle biopsy. Main histological subtypes of RYR1-RM include central core disease, multiminicore disease, core-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. A range of RYR1-RM clinical phenotypes has also emerged more recently and includes King Denborough syndrome, RYR1 rhabdomyolysis-myalgia syndrome, atypical periodic paralysis, congenital neuromuscular disease with uniform type 1 fibers, and late-onset axial myopathy...
November 7, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30406383/diagnosis-and-treatment-of-mitochondrial-myopathies
#5
REVIEW
Syeda T Ahmed, Lyndsey Craven, Oliver M Russell, Doug M Turnbull, Amy E Vincent
Mitochondrial myopathies are progressive muscle conditions caused primarily by the impairment of oxidative phosphorylation (OXPHOS) in the mitochondria. This causes a deficit in energy production in the form of adenosine triphosphate (ATP), particularly in skeletal muscle. The diagnosis of mitochondrial myopathy is reliant on the combination of numerous techniques including traditional histochemical, immunohistochemical, and biochemical testing combined with the fast-emerging molecular genetic techniques, namely next-generation sequencing (NGS)...
November 7, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30406382/applications-of-focused-ultrasound-in-cerebrovascular-diseases-and-brain-tumors
#6
REVIEW
Francesco Prada, M Yashar S Kalani, Kaan Yagmurlu, Pedro Norat, Massimiliano Del Bene, Francesco DiMeco, Neal F Kassell
Oncology and cerebrovascular disease constitute two of the most common diseases afflicting the central nervous system. Standard of treatment of these pathologies is based on multidisciplinary approaches encompassing combination of interventional procedures such as open and endovascular surgeries, drugs (chemotherapies, anti-coagulants, anti-platelet therapies, thrombolytics), and radiation therapies. In this context, therapeutic ultrasound could represent a novel diagnostic/therapeutic in the armamentarium of the surgeon to treat these diseases...
November 7, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30397902/myopathies-related-to-glycogen-metabolism-disorders
#7
REVIEW
Mark A Tarnopolsky
Most of the glycogen metabolism disorders that affect skeletal muscle involve enzymes in glycogenolysis (myophosphorylase (PYGM), glycogen debranching enzyme (AGL), phosphorylase b kinase (PHKB)) and glycolysis (phosphofructokinase (PFK), phosphoglycerate mutase (PGAM2), aldolase A (ALDOA), β-enolase (ENO3)); however, 3 involve glycogen synthesis (glycogenin-1 (GYG1), glycogen synthase (GSE), and branching enzyme (GBE1)). Many present with exercise-induced cramps and rhabdomyolysis with higher-intensity exercise (i...
November 5, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30378004/closed-loop-brain-stimulation-for-drug-resistant-epilepsy-towards-an-evidence-based-approach-to-personalized-medicine
#8
REVIEW
Nathaniel D Sisterson, Thomas A Wozny, Vasileios Kokkinos, Alexander Constantino, R Mark Richardson
Closed-loop brain stimulation is one of the few treatments available for patients who are ineligible for traditional surgical resection of the epileptogenic zone, due to having generalized epilepsy, multifocal epilepsy, or focal epilepsy localized to an eloquent brain region. Due to its clinical efficacy and potential to delivery personalized therapy based on an individual's own intracerebral electrophysiology, this treatment is becoming an important part of clinical practice, despite a limited understanding of how to program detection and stimulation parameters for optimal, patient-specific benefit...
October 30, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30378003/invasive-neuromodulation-for-the-treatment-of-pediatric-epilepsy
#9
REVIEW
Laureen D Hachem, Han Yan, George M Ibrahim
Neuromodulatory strategies are increasingly adopted for the treatment of intractable epilepsy in children. These encompass a wide range of treatments aimed at externally stimulating neural circuitry in order to decrease seizure frequency. In the current review, the authors discuss the evidence for invasive neuromodulation, namely vagus nerve and deep brain stimulation in affected children. Putative mechanisms of action and biomarkers of treatment success are explored and evidence of the efficacy of invasive neuromodulation is highlighted...
October 30, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30361931/venlafaxine-mitigates-depressive-like-behavior-in-ovariectomized-rats-by-activating-the-epo-epor-jak2-signaling-pathway-and-increasing-the-serum-estradiol-level
#10
Muhammed A Saad, Ayman E El-Sahar, Rabab H Sayed, Eman M Elbaz, Hebatullah S Helmy, Mahmoud A Senousy
Reduced estradiol levels are associated with depression in women during the transition to and after menopause. A considerable number of studies focusing on the theme of treating depression through the activation of erythropoietin (EPO)-induced signaling pathways have been published. Venlafaxine is an approved antidepressant drug that inhibits both serotonin and norepinephrine transporters. The aim of the present study was to investigate the effects of venlafaxine on the depressive-like behaviors and serum estradiol levels in female rats following ovariectomy (OVX) and the possible roles of EPO-induced signaling pathways...
October 25, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30361930/facioscapulohumeral-muscular-dystrophy-update-on-pathogenesis-and-future-treatments
#11
REVIEW
Johanna Hamel, Rabi Tawil
A reliable model of a disease pathomechanism is the first step to develop targeted treatment. In facioscapulohumeral muscular dystrophy (FSHD), the third most common muscular dystrophy, recent advances in understanding the complex genetics and epigenetics have led to the identification of a disease mechanism, moving the field towards targeted therapy development. FSHD is caused by expression of DUX4, a retrogene located on the D4Z4 macrosatellite repeat array on chromosome 4q35, a gene expressed in the germline but typically repressed in somatic tissue...
October 25, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30341599/skeletal-muscle-channelopathies
#12
REVIEW
Lauren Phillips, Jaya R Trivedi
Skeletal muscle channelopathies are rare heterogeneous diseases with marked genotypic and phenotypic variability. These disorders cause lifetime disability and impact quality of life. Despite advances in understanding of the molecular pathology of these disorders, the diverse phenotypic manifestations remain a challenge in diagnosis, therapeutic, genetic counseling, and research planning. Electrodiagnostic testing is useful in directing the diagnosis, but has several limitations: patient discomfort, time consuming, and significant overlap of findings in muscle channelopathies...
October 19, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30341596/myotonic-dystrophies-targeting-therapies-for-multisystem-disease
#13
REVIEW
Samantha LoRusso, Benjamin Weiner, W David Arnold
Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and myotonia but also prominent multisystem involvement. There are 2 similar, but distinct, forms of myotonic dystrophy; type 1 is caused by a CTG repeat expansion in the DMPK gene, and type 2 is caused by a CCTG repeat expansion in the CNBP gene. Type 1 is associated with distal limb, neck flexor, and bulbar weakness and results in different phenotypic subtypes with variable onset from congenital to very late-onset as well as variable signs and symptoms...
October 18, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30338442/gne-myopathy-etiology-diagnosis-and-therapeutic-challenges
#14
REVIEW
Nuria Carrillo, May C Malicdan, Marjan Huizing
GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease characterized by progressive skeletal muscle atrophy. It has an estimated prevalence of 1 to 9:1,000,000. GNE myopathy is caused by mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. The pathophysiology of the disease is not entirely understood, but hyposialylation of muscle glycans is thought to play an essential role. The typical presentation is bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood...
October 18, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30341597/autoimmune-myopathies-updates-on-evaluation-and-treatment
#15
REVIEW
Emer R McGrath, Christopher T Doughty, Anthony A Amato
The major forms of autoimmune myopathies include dermatomyositis (DM), polymyositis (PM), myositis associated with antisynthetase syndrome (ASS), immune-mediated necrotizing myopathy (IMNM), and inclusion body myositis (IBM). While each of these conditions has unique clinical and histopathological features, they all share an immune-mediated component. These conditions can occur in isolation or can be associated with systemic malignancies or connective tissue disorders (overlap syndromes). As more has been learned about these conditions, it has become clear that traditional classification schemes do not adequately group patients according to shared clinical features and prognosis...
October 16, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30341598/abstracts-from-hsg-2018
#16
(no author information available yet)
No abstract text is available yet for this article.
October 12, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30288668/l-norvaline-reverses-cognitive-decline-and-synaptic-loss-in-a-murine-model-of-alzheimer-s-disease
#17
Baruh Polis, Kolluru D Srikanth, Evan Elliott, Hava Gil-Henn, Abraham O Samson
The urea cycle is strongly implicated in the pathogenesis of Alzheimer's disease (AD). Arginase-I (ARGI) accumulation at sites of amyloid-beta (Aβ) deposition is associated with L-arginine deprivation and neurodegeneration. An interaction between the arginase II (ARGII) and mTOR-ribosomal protein S6 kinase β-1 (S6K1) pathways promotes inflammation and oxidative stress. In this study, we treated triple-transgenic (3×Tg) mice exhibiting increased S6K1 activity and wild-type (WT) mice with L-norvaline, which inhibits both arginase and S6K1...
October 4, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30267204/novel-uses-of-nerve-transfers
#18
REVIEW
Thomas J Wilson
Nerve transfer surgery involves using a working, functional nerve with an expendable or duplicated function as a donor to supply axons and restore function to an injured recipient nerve. Nerve transfers were originally popularized for the restoration of motor function in patients with peripheral nerve injuries. However, more recently, novel uses of nerve transfers have been described, including nerve transfers for sensory reinnervation, nerve transfers for spinal cord injury and stroke patients, supercharge end-to-side nerve transfers, and targeted muscle reinnervation for the prevention and treatment of postamputation neuroma pain...
September 28, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30251222/statin-associated-muscle-disease-advances-in-diagnosis-and-management
#19
REVIEW
Beth A Taylor, Paul D Thompson
Since the first approval of lovastatin in 1987, hydroxy-methyl-glutaryl CoA (HMG CoA) reductase inhibitors, or statins, have been effective and widely popular cholesterol-lowering agents with substantial benefits for the prevention and treatment of cardiovascular disease. Not all patients can tolerate these drugs, however, and statin intolerance is most frequently associated with a range of side effects directed toward skeletal muscle, termed statin-associated muscle symptoms or SAMS. SAMS are particularly difficult to treat because there are no validated biomarkers or tests that can be used to confirm patient self-reports of SAMS, and a number of patients who report SAMS have non-specific muscle pain not attributable to statin therapy...
September 24, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30242774/can-arginase-inhibitors-be-the-answer-to-therapeutic-challenges-in-alzheimer-s-disease
#20
Saak Victor Ovsepian, Valerie Bríd O'Leary
While the extensive hunt for therapeutics combating Alzheimer's disease (AD) has fallen short of delivering effective treatments, breakthroughs towards understanding the disease mechanisms and identifying areas for future research have nevertheless been enabled. The majority of clinical trials with β- and γ-secretase modulators have been suspended from additional studies or terminated due to toxicity issues and health concerns. The lack of progress in developing innovative AD therapies has also prompted a resurgence of interest in more traditional symptomatic treatments with cholinesterase inhibitors and N-methyl-D-aspartate receptor antagonists, as well as in the research of immune response modulators...
September 21, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
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