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Myotonic Dystrophy: An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy. Cardiac conduction abnormalities, diaphragmatic weakness, and mild Intellectual disability may also occur. Congenital myotonic dystrophy is a severe form of this disorder, characterized by neonatal Muscle hypotonia, feeding difficulties, respiratory muscle weakness, and an increased incidence of Intellectual disability. (From Adams et al., Principles of Neurology, 6th ed, pp1423-5; Joynt, Clinical Neurology, 1997, Ch16, pp16-7)

High-throughput Analysis of Locomotor Behavior in the Drosophila Island Assay

1Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 2Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 3Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center

JoVE 55892


 Neuroscience

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

1Department of Genetics and Genome Sciences, Case Western Reserve University, 2Department of Endocrinology, Dongfang Hospital of Beijing University of Chinese Medicine, 3Case Comprehensive Cancer Center, Case Western Reserve University, 4Center for RNA Science and Therapeutics, Case Western Reserve University

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JoVE 57889


 JoVE In-Press

Consensus Brain-derived Protein, Extraction Protocol for the Study of Human and Murine Brain Proteome Using Both 2D-DIGE and Mini 2DE Immunoblotting

1Team Alzheimer & Tauopathies, Jean-Pierre Aubert Research Centre, Inserm UMR 837, 2EA 4308-Department of Reproductive Biology-Spermiology-CECOS, CHRU-Lille, 3EA2686-Laboratorie d'Immunologie, Faculté de Médecine - Pôle Recherche, 4Department of Neurology, CHRU-Lille

JoVE 51339


 Neuroscience

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