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The genetic and molecular mechanisms of motor neuron disease |
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| Authors: | Philip C Wong Jeffrey D Rothstein Donald L Price |
| Institution: | aDepartment of Pathology, and the Division of Neuropathology, The Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, Maryland 21205-2196, USA;bDepartments of Neurology, Neuroscience, Cellular and Molecular Medicine, The Johns HopkinsUniversity School of Medicine, 720 Rutland Avenue, Baltimore, Maryland 21205-2196, USA |
| Abstract: | Significant progress has been made in the identification of genes and chromosomal loci associated with several types of motor neuron disease. Of particular interest is recent work on the pathogenic mechanisms underlying these diseases, especially studies in in vitro model systems and in transgenic and gene-targeted mice. |
| Keywords: | Abbreviations: ALS amyotrophic lateral sclerosis EAAT2 excitatory amino acid transporter 2 FALS familial ALS HSP hereditary spastic paraplegia JALS juvenile ALS NAIP neuronal apoptosis inhibitory protein NF neurofilament SBMA spinobulbar muscular atrophy SIP1 SMN-interacting protein-1 SMA spinal muscular atrophy SMN survival motor neuron SOD1 superoxide dismutase-1 |
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