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Journal of Neuromuscular Diseases Volume 3 Issue 2

Subject Areas: Neurology (clinical); ;
Publisher: IOS Press - IOS Press
ISSN: 2214-3599
SJR: 29

LitStream

Journal Article

“Get the Balance Right”: Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders

Castets, Perrine; Frank, Stephan; Sinnreich, Michael; Rüegg, Markus A.

2016 Journal of Neuromuscular Diseases

doi:10.3233/JND-160153 pmid:27854220

Recent research has revealed that autophagy, a major catabolic process in cells, is dysregulated in several neuromuscular diseases and contributes to the muscle wasting caused by non-muscle disorders (e.g. cancer cachexia) or during aging (i.e. sarcopenia). From there, the idea arose to interfere...
LitStream

Journal Article

Therapeutic Potential of Tricyclo-DNA antisense oligonucleotides

Goyenvalle, Aurelie; Leumann, Christian; Garcia, Luis

2016 Journal of Neuromuscular Diseases

doi:10.3233/JND-160146 pmid:27854216

Oligonucleotide therapeutics hold great promise for the treatment of various diseases and the antisense field is constantly gaining interest due to the development of more potent and nuclease resistant chemistries. Despite a rather low success rate with only three antisense drugs being clinically...
LitStream

Journal Article

Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders

Buchkremer, Stephan; González Coraspe, José Andrés; Weis, Joachim; Roos, Andreas

2016 Journal of Neuromuscular Diseases

doi:10.3233/JND-160152 pmid:27854219

Chaperone dysfunction leading to the build-up of misfolded proteins could frequently be linked to clinical manifestations also affecting the nervous system and the skeletal muscle. In addition, increase in chaperone function is beneficial to antagonize protein aggregation and thus represents a...
LitStream

Journal Article

Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus

Bouhy, Delphine; Geuens, Thomas; De Winter, Vicky; Almeida-Souza, Leonardo; Katona, Istvan; Weis, Joachim; Hochepied, Tino; Goossens, Steven; Haigh, Jody J.; Janssens, Sophie; Timmerman, Vincent

2016 Journal of Neuromuscular Diseases

doi:10.3233/JND-150144 pmid:27854215

Background: Charcot-Marie-Tooth (CMT) and associated neuropathies, the most common inherited diseases of the peripheral nervous system, remain so far incurable. Three existing murine models of Charcot-Marie-Tooth type 2F (CMT2F) and/or distal hereditary motor neuropathy type IIb (dHMNIIb), caused...
LitStream

Journal Article

Enhancement of Satellite Cell Transplantation Efficiency by Leukemia Inhibitory Factor

Ito, N.; Shimizu, N.; Tanaka, H.; Takeda, S.

2016 Journal of Neuromuscular Diseases

doi:10.3233/JND-160156 pmid:27854222

Background and Objectives: Cell transplantation is a promising therapy for several muscle diseases, including Duchenne muscular dystrophy. Satellite cells are stem cells in skeletal muscle that provide an important cell source for transplantation therapy. However, culture of satellite cells in...
LitStream

Journal Article

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases

Punetha, Jaya; Kesari, Akanchha; Uapinyoying, Prech; Giri, Mamta; Clarke, Nigel F.; Waddell, Leigh B.; North, Kathryn N.; Ghaoui, Roula; O’Grady, Gina L.; Oates, Emily C.; Sandaradura, Sarah A.; Bönnemann, Carsten G.; Donkervoort, Sandra; Plotz, Paul H.; Smith, Edward C.; Tesi-Rocha, Carolina; Bertorini, Tulio E.; Tarnopolsky, Mark A.; Reitter, Bernd; Hausmanowa-Petrusewicz, Irena; Hoffman, Eric P.

2016 Journal of Neuromuscular Diseases

doi:10.3233/JND-160151 pmid:27854218

Background: Molecular diagnostics in the genetic myopathies often requires testing of the largest and most complex transcript units in the human genome (DMD, TTN, NEB). Iteratively targeting single genes for sequencing has traditionally entailed high costs and long turnaround times. Exome...
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Journal Article

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms

Marey, Isabelle; Ben Yaou, Rabah; Deburgrave, Nathalie; Vasson, Aurélie; Nectoux, Juliette; Leturcq, France; Eymard, Bruno; Laforet, Pascal; Behin, Anthony; Stojkovic, Tanya; Mayer, Michèle; Tiffreau, Vincent; Desguerre, Isabelle; Boyer, François Constant; Nadaj-Pakleza, Aleksandra; Ferrer, Xavier; Wahbi, Karim; Becane, Henri-Marc; Claustres, Mireille; Chelly, Jamel; Cossee, Mireille

2016 Journal of Neuromuscular Diseases

doi:10.3233/JND-150134 pmid:27854212

Background: Dystrophinopathies are mostly caused by copy number variations, especially deletions, in the dystrophin gene (DMD). Despite the large size of the gene, deletions do not occur randomly but mainly in two hot spots, the main one involving exons 45 to 55. The underlying mechanisms are...
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Journal Article

N-terminal α Dystroglycan (αDG-N): A Potential Serum Biomarker for Duchenne Muscular Dystrophy

Crowe, Kelly E.; Shao, Guohong; Flanigan, Kevin M.; Martin, Paul T.

2016 Journal of Neuromuscular Diseases

doi:10.3233/JND-150127 pmid:27854211

Background: Duchenne Muscular Dystrophy (DMD) is a severe, progressive, neuromuscular disorder of childhood. While a number of serum factors have been identified as potential biomarkers of DMD, none, as yet, are proteins within the dystrophin-associated glycoprotein (DAG) complex.Objective: We...
LitStream

Journal Article

Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico

Ramos, Edwardo; Conde, José G.; Berrios, Rafael Arias; Pardo, Sherly; Gómez, Omar; Mas Rodríguez, Manuel F.

2016 Journal of Neuromuscular Diseases

doi:10.3233/JND-160147 pmid:27854217

Background: Duchenne and Becker Muscular Dystrophy (DMD and BMD, respectively), are common forms of inherited muscle disease. Information regarding the epidemiology of these conditions, including genotype, is still sparse.Objective: To establish the prevalence and genetic profile of DMD and BMD...
LitStream

Journal Article

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum

Cruz, Simao; Figueroa-Bonaparte, Sebastian; Gallardo, Eduard; de Becdelièvre, Alix; Gartioux, Corine; Allamand, Valérie; Piñol, Patricia; Garcia, Maria Angels Rodriguez; Jiménez-Mallebriera, Cecilia; Llauger, Jaume; González-Rodríguez, Lidia; Cortes-Vicente, Elena; Illa, Isabel; Díaz-Manera, Jordi

2016 Journal of Neuromuscular Diseases

doi:10.3233/JND-150135 pmid:27854213

The classical phenotypes of collagen VI-associated myopathies are well described. Little is known, however, about the progression of patients at the mildest end of the clinical spectrum. In this report, we describe the clinical findings and the results of MRI, muscle biopsy, collagen VI...

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