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Journal of Neuromuscular Diseases

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https://www.readbyqxmd.com/read/28598854/analysis-of-azithromycin-monohydrate-as-a-single-or-a-combinatorial-therapy-in-a-mouse-model-of-severe-spinal-muscular-atrophy
#1
Erkan Y Osman, Charles W Washington, Madeline E Simon, Dalia Megiddo, Dalia Hagar Greif, Christian L Lorson
BACKGROUND: Spinal muscular atrophy (SMA) is a neurodegenerative autosomal recessive disorder characterized by the loss of α-motor neurons. A variety of molecular pathways are being investigated to elevate SMN protein expression in SMA models and in the clinic. One of these approaches involves stabilizing the SMNΔ7 protein by inducing translational read-through. Previous studies have demonstrated that functionality and stability are partially restored to the otherwise unstable SMNΔ7 by the addition of non-specific C-terminal peptide sequences, or by inducing a similar molecular event through the use of read-through inducing compounds such as aminoglycosides...
June 9, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28598855/risk-for-complications-after-pacemaker-or-cardioverter-defibrillator-implantations-in-patients-with-myotonic-dystrophy-type-1
#2
Maximilien Sochala, Karim Wahbi, Emmanuel Sorbets, Arnaud Lazarus, Henri-Marc Bécane, Tanya Stojkovic, Abdallah Fayssoil, Pascal Laforêt, Anthony Béhin, Marjorie Sroussi, Bruno Eymard, Denis Duboc, Christophe Meune
BACKGROUND: Pacemakers (PM) and implantable cardioverter defibrillators (ICD) may be indicated for sudden death prevention in myotonic dystrophy type 1 (DM1), however the risk of complications after the placement of these devices is unknown. OBJECTIVE: To compare the rate of device-related complications between PM and ICD implantations in patients with DM1. METHODS: Among 914 patients with DM1 included in the DM1 Heart Registry between January 2000 and January 2010, we retrospectively selected 23 patients who were implanted with an ICD and matched them to 46 controls with a PM on age, gender, and year of device placement...
June 6, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28582869/postnatal-development-of-spasticity-following-transgene-insertion-in-the-mouse-%C3%AE-iv-spectrin-gene-sptbn4
#3
Eva Kichkin, Archunan Visvanathan, Frank J Lovicu, Daisy Y Shu, Shannon J Das, Stephen W Reddel, Emily P McCann, Katharine Y Zhang, Kelly L Williams, Ian P Blair, William D Phillips
BACKGROUND: The L25 mouse line was generated by random genomic insertion of a lens-specific transgene. Inbreeding of L25 hemizygotes revealed an unanticipated spastic phenotype in the hind limbs. OBJECTIVE: The goals were to characterize the motor phenotype in the L25 mice and to map the transgene insert site within the mouse genome. METHODS: Six pairs of L25+/- mice were repeatedly mated. Beginning at weaning, all progeny were inspected for body weight and motor signs twice weekly until they displayed predefined ethical criteria for termination...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28550268/improving-reproducibility-of-phenotypic-assessments-in-the-dyw-mouse-model-of-laminin-%C3%AE-2-related-congenital-muscular-dystrophy
#4
Raffaella Willmann, Heather Gordish-Dressman, Sarina Meinen, Markus A Rüegg, Qing Yu, Kanneboyina Nagaraju, Ayar Kumar, Mahasweta Girgenrath, Caroline B M Coffey, Vivian Cruz, Pam M Van Ry, Laurent Bogdanik, Cathleen Lutz, Anne Rutkowski, Dean J Burkin
Laminin-α2 related Congenital Muscular Dystrophy (LAMA2-CMD) is a progressive muscle disease caused by partial or complete deficiency of laminin-211, a skeletal muscle extracellular matrix protein. In the last decade, basic science research has queried underlying disease mechanisms in existing LAMA2-CMD murine models and identified possible clinical targets and pharmacological interventions. Experimental rigor in preclinical studies is critical to efficiently and accurately quantify both negative and positive results, degree of efficiency of potential therapeutics and determine whether to move a compound forward for additional preclinical testing...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28527222/functional-characterization-of-c-terminal-ryanodine-receptor-1-variants-associated-with-central-core-disease-or-malignant-hyperthermia
#5
Remai Parker, Anja H Schiemann, Elaine Langton, Terasa Bulger, Neil Pollock, Andrew Bjorksten, Robyn Gillies, David Hutchinson, Richard Roxburgh, Kathryn M Stowell
BACKGROUND: Central core disease and malignant hyperthermia are human disorders of skeletal muscle resulting from aberrant Ca2+ handling. Most malignant hyperthermia and central core disease cases are associated with amino acid changes in the type 1 ryanodine receptor (RyR1), the skeletal muscle Ca2+-release channel. Malignant hyperthermia exhibits a gain-of-function phenotype, and central core disease results from loss of channel function. For a variant to be classified as pathogenic, functional studies must demonstrate a correlation with the pathophysiology of malignant hyperthermia or central core disease...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28505981/severe-exacerbation-of-myasthenia-gravis-associated-with-checkpoint-inhibitor-immunotherapy
#6
Dana S Cooper, Matthew N Meriggioli, Philip D Bonomi, Rabia Malik
Monoclonal antibodies that target either PD-1 or PD-L1 have recently been approved for treatment of advanced non-small cell lung cancer. These antibodies are immune checkpoint inhibitors which have been shown to exacerbate Myasthenia Gravis (MG) and other autoimmune diseases. While effective in preventing tumor cells from evading immune attack, immune checkpoint inhibitors such as nivolumab, an antibody directed against the programmed cell death protein-1 (PD-1) receptor located on T-cells, may also cause immune dysregulation and could cause or potentiate pre-existing autoimmune conditions...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28505980/creation-of-a-novel-humanized-dystrophic-mouse-model-of-duchenne-muscular-dystrophy-and-application-of-a-crispr-cas9-gene-editing-therapy
#7
Courtney S Young, Ekaterina Mokhonova, Marbella Quinonez, April D Pyle, Melissa J Spencer
Duchenne muscular dystrophy is caused by mutations in DMD which disrupt the reading frame. Therapeutic strategies that restore DMD's reading frame, such as exon skipping and CRISPR/Cas9, need to be tested in the context of the human DMD sequence in vivo. We have developed a novel dystrophic mouse model by using CRISPR/Cas9 to delete exon 45 in the human DMD gene in hDMD mice, which places DMD out-of-frame. We have utilized this model to demonstrate that our clinically-relevant CRISPR/Cas9 platform, which targets deletion of human DMD exons 45-55, can be directly applied in vivo to restore dystrophin...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28505979/a-systematic-review-and-meta-analysis-of%C3%A2-prevalence-studies-of-sporadic-inclusion-body-myositis
#8
Aoife Callan, Gorana Capkun, Vijayalakshmi Vasanthaprasad, Rita Freitas, Merrilee Needham
BACKGROUND: Sporadic Inclusion Body Myositis (sIBM) is a rare and slowly progressive debilitating muscle disease with symptoms generally developing≥50 years of age. OBJECTIVE: To conduct a systematic review and meta-analysis of the prevalence of sIBM literature, including a methodological quality assessment of the selected papers. METHODS: A systematic search of Medline, Embase, Cochrane Database of Systematic Reviews and major Myositis and Neurological conferences was conducted...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28436394/sarcomere-dysfunction-in-nemaline-myopathy
#9
Josine M de Winter, Coen A C Ottenheijm
Nemaline myopathy (NM) is among the most common non-dystrophic congenital myopathies (incidence 1:50.000). Hallmark features of NM are skeletal muscle weakness and the presence of nemaline bodies in the muscle fiber. The clinical phenotype of NM patients is quite diverse, ranging from neonatal death to normal lifespan with almost normal motor function. As the respiratory muscles are involved as well, severely affected patients are ventilator-dependent. The mechanisms underlying muscle weakness in NM are currently poorly understood...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28339402/outcomes-of-hospitalised-muscular-dystrophy-patients
#10
Ghilas Boussaid, Hélène Prigent, Gilbert Caranhac, Djillali Annane, Christian Devaux, David Orlikowski, Frédéric Lofaso
BACKGROUND: In France, referral centres in teaching hospitals were created 10 years ago to provide MD patients with treatments and follow-up designed to prevent complications and improve outcomes. Respiratory failure is a major cause of death among subjects with MD, and its prevention and treatment can serve as a touchstone for assessing the effectiveness of MD care pathways. OBJECTIVE: We report data from a preliminary study of admissions of MD patients in France and of factors associated with mortality, with special emphasis on respiratory failure [RF]...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269796/cysteine-supplementation-may-be-beneficial-in-a-subgroup-of-mitochondrial-translation-deficiencies
#11
(no author information available yet)
No abstract text is available yet for this article.
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269795/smn-blood-levels-in-a-porcine-model-of-spinal-muscular-atrophy
#12
Chitra Iyer, Xueqian Wang, Samantha R Renusch, Sandra I Duque, Allison M Wehr, Xiaokui-Molly Mo, Vicki L McGovern, W David Arnold, Arthur H M Burghes, Stephen J Kolb
BACKGROUND: Spinal Muscular Atrophy (SMA) is an autosomal recessive motor neuron disease that results in loss of spinal motor neurons, muscular weakness and, in severe cases, respiratory failure and death. SMA is caused by a deletion or mutation of the SMN1 gene and retention of the SMN2 gene that leads to low SMN expression levels.The measurement of SMN mRNA levels in peripheral blood samples has been used in SMA clinical studies as a pharmacodynamic biomarker for response to therapies designed to increase SMN levels...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269794/myofibrillar-myopathies-new-perspectives-from-animal-models-to-potential-therapeutic-approaches
#13
Sabrina Batonnet-Pichon, Anthony Behin, Eva Cabet, Florence Delort, Patrick Vicart, Alain Lilienbaum
Myofibrillar myopathies (MFMs) are muscular disorders involving proteins that play a role in the structure, maintenance processes and protein quality control mechanisms closely related to the Z-disc in the muscular fibers. MFMs share common histological characteristics including progressive disorganization of the interfibrillar network and protein aggregation. Currently no treatment is available. In this review, we describe first clinical symptoms associated with mutations of the six genes (DES, CRYAB, MYOT, ZASP, FLNC and BAG3) primary involved in MFM and defining the origin of this pathology...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269793/proton-magnetic-resonance-spectroscopy-indicates-preserved-cerebral-biochemical-composition-in-duchenne-muscular-dystrophy-patients
#14
Nathalie Doorenweerd, Melissa Hooijmans, Stephanie A Schubert, Andrew G Webb, Chiara S M Straathof, Erik W van Zwet, Mark A van Buchem, Jan J G M Verschuuren, Jos G M Hendriksen, Erik H Niks, Hermien E Kan
BACKGROUND: Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin. DMD is associated with specific learning and behavioural disabilities. In the brain, dystrophin is associated with GABAA receptors and aquaporin-4 in neurons and astrocytes, respectively, but little is known about its function. OBJECTIVE AND METHODS: In this study we aimed to compare the biochemical composition between patients and healthy controls in brain regions that are naturally rich in dystrophin using magnetic resonance spectroscopy...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269792/ryr1-related-myopathies-clinical-histopathologic-and-genetic-heterogeneity-among-17-patients-from-a-portuguese-tertiary-centre
#15
Raquel Samões, Jorge Oliveira, Ricardo Taipa, Teresa Coelho, Márcio Cardoso, Ana Gonçalves, Rosário Santos, Manuel Melo Pires, Manuela Santos
BACKGROUND: Pathogenic variants in ryanodine receptor type 1 (RYR1) gene are an important cause of congenital myopathy. The clinical, histopathologic and genetic spectrum is wide. OBJECTIVE: Review a group of the patients diagnosed with ryanodinopathy in a tertiary centre from North Portugal, as an attempt to define some phenotypical patterns that may help guiding future diagnosis. METHODS: Patients were identified from the database of the reference centre for Neuromuscular Disorders in North Portugal...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269791/measuring-habitual-physical-activity-in%C3%A2-neuromuscular-disorders-a-systematic-review
#16
Aura Cecilia Jimenez-Moreno, Jane Newman, Sarah J Charman, Michael Catt, Michael I Trenell, Grainne S Gorman, Jean-Yves Hogrel, Hanns Lochmüller
BACKGROUND: Free-living or habitual physical activity (HPA) refers to someone's performance in his or her free-living environment. Neuromuscular disorders (NMD) manifest through HPA, and the observation of HPA can be used to identify clinical risks and to quantify outcomes in research. This review summarizes and analyses previous studies reporting the assessment of HPA in NMD, and may serve as the basis for evidence-based decision-making when considering assessing HPA in this population...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269790/cardiac-involvement-classification-and-therapeutic-management-in-patients-with-duchenne-muscular-dystrophy
#17
Abdallah Fayssoil, Soumeth Abasse, Katy Silverston
Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. The clinical picture included peripheral muscle weakness, cardiomyopathy and chronic respiratory insufficiency. In this paper, the authors review cardiac involvement in patients with DMD, propose a cardiac impairment classification and discuss therapeutic management options.
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269789/histopathologic-and-biochemical-evidence-for-mitochondrial-disease-among-279-patients-with-severe-statin-myopathy
#18
Tieying Hou, Yilan Li, Weiwei Chen, Reid R Heffner, Georgirene D Vladutiu
BACKGROUND: Statins have well-known benefits in the prevention of cardiovascular disease, however, 7-29% of patients develop muscle side effects and up to 0.5% develop severe symptoms. Mitochondrial dysfunction has been associated with severe statin-induced myopathy (SM); however, there is a paucity of systematic studies in affected individuals. OBJECTIVES: The goal of this study was to combine clinical and laboratory features with quantitative biochemical and histopathologic studies of skeletal muscle biopsies from SM cases to determine what proportion could be attributed to mitochondrial dysfunction and how many of these had primary respiratory chain defects...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28106565/neuromyelitis-optica-in-a-patient-from-family-with-both-myotonic-dystrophy-type%C3%A2-1-and-2
#19
V Rakocevic-Stojanovic, S Peric, I Dujmovic, J Drulovic, J Pesovic, D Savic-Pavicevic
INTRODUCTION: The aim of this study was to present a family co-segregating myotonic dystrophy type 1 (DM1) and 2 (DM2), and one member affected with neuromyelitis optica (NMO). CASE REPORT: Index case underwent cataract surgery at age 39. Although she had no muscle symptoms, genetic testing revealed a DM2 mutation and a DM1 protomutation. The patient noticed difficulties in climbing stairs at age 47. Clinical examination showed mild muscle weakness, calf hypertrophy, mild myotonia and several multisystem signs...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28106564/andersen-tawil-syndrome-with-early-onset-myopathy-2-cases
#20
Gokcen Oz Tuncer, Serap Teber, Muhammed Gültekin Kutluk, Pelin Albayrak, Gülhis Deda
No abstract text is available yet for this article.
2017: Journal of Neuromuscular Diseases
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