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Ataxia Telangiectasia: An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive Cerebellar ataxia; Telangiectasis of Conjunctiva and Skin; Dysarthria; B- and T-cell immunodeficiency, and Radiosensitivity to Ionizing radiation. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum Alpha-fetoproteins are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (Atm) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
 JoVE Bioengineering

Porous Silicon Microparticles for Delivery of siRNA Therapeutics

1Department of Nanomedicine, Houston Methodist Research Institute, 2MOE Key Laboratory of Bioinorganic and Synthetic Chemistry, School of Chemistry and Chemical Engineering, Sun Yat-sen University, 3Pediatrics Department of Union Hospital, Huazhong University of Science and Technology, 4CAS Key Laboratory for Biomedical Effects of Nanomaterials & Nanosafety, National Center for Nanoscience & Technology of China, 5Department of Medicine, Weill Cornell Medical College, 6Department of Cell and Developmental Biology, Weill Cornell Medical College


JoVE 52075

 JoVE Biology

Evaluation of the Spatial Distribution of γH2AX following Ionizing Radiation

1Epigenetics in Human Health and Disease, BakerIDI Heart and Diabetes Institute, The Alfred Medical Research and Education Precinct, 2Epigenomic Medicine, BakerIDI Heart and Diabetes Institute, The Alfred Medical Research and Education Precinct, 3Department of Pathology, University of Melbourne


JoVE 2203

 JoVE Biology

Quantitation of γH2AX Foci in Tissue Samples

1Epigenomic Medicine, Baker IDI Heart and Diabetes Institute, The Alfred Medical Research and Education Precinct, 2Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, The Alfred Medical Research and Education Precinct, 3Department of Pathology, The University of Melbourne, 4Department of Allergy and Immunology, Murdoch Children's Research Institute, Royal Children's Hospital, 5Department of Pediatrics, The University of Melbourne


JoVE 2063

 JoVE Biology

Quantification of γH2AX Foci in Response to Ionising Radiation

1Epigenomic Medicine, Baker IDI Heart and Diabetes Institute, The Alfred Medical Research and Education Precinct, 2Department of Pathology, The University of Melbourne, 3Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, The Alfred Medical Research and Education Precinct


JoVE 1957

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 JoVE Environment

LC-MS Analysis of Human Platelets as a Platform for Studying Mitochondrial Metabolism

1Center for Cancer Pharmacology, University of Pennsylvania, 2Center for Excellence in Environmental Toxicology, University of Pennsylvania, 3Penn SRP and Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania, 4Division of Traumatology, Department of Surgery, Critical Care and Acute Care Surgery, University of Pennsylvania, 5A.J. Drexel Autism Institute, Drexel University


JoVE 53941

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 JoVE Biology

Purification of Transcripts and Metabolites from Drosophila Heads

1Department of Neurology, McKnight Brain Institute, University of Florida, 2Department of Entomology and Nematology, University of Florida, 3Genetics Institute, Department of Molecular Genetics and Microbiology, University of Florida, 4McKnight Brain Institute, Department of Neuroscience, Genetics Institute, Center for Translational Research on Neurodegenerative Diseases, and Center for Movement Disorders and Neurorestoration, University of Florida


JoVE 50245

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 JoVE Medicine

Adapted Resistance Training Improves Strength in Eight Weeks in Individuals with Multiple Sclerosis

1Motion Analysis Laboratory, Kennedy Krieger Institute, 2Physical Medicine & Rehabilitation, Johns Hopkins University School of Medicine, 3Johns Hopkins University School of Medicine, 4Department of Neurology, Johns Hopkins University School of Medicine


JoVE 53449

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 JoVE Medicine

A Step by Step Protocol for Subretinal Surgery in Rabbits

1Department of Ophthalmology, University of Bonn, 2Department of Ophthalmology, National University of Singapore, 3Geuder AG, 4Department of Ophthalmology, University of Münster, 5Section on Epithelial and Retinal Physiology and Disease, National Eye Institute/National Institutes of Health, 6Surgical Retina Department, Singapore National Eye Centre


JoVE 53927

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 JoVE Neuroscience

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

1Department of Biochemistry, University of Washington, 2Department of Neurology, University of Washington, 3Division of Genetics, Departments of Pediatrics and Cellular and Molecular Medicine, and the Institute for Genomic Medicine, University of California, San Diego - Rady Children’s Hospital


JoVE 1787

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