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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

By J. O. Johnson, E. P. Pioro, A. Boehringer, R. Chia, H. Feit, A. E. Renton, H. A. Pliner, Y. Abramzon, G. Marangi, B. J. Winborn, J. R. Gibbs, M. A. Nalls, S. Morgan, M. Shoai, J. Hardy, A. Pittman, R. W. Orrell, A. Malaspina, K. C. Sidle, P. Fratta, M. B. Harms, R. H. Baloh, A. Pestronk, C. C. Weihl, E. Rogaeva, L. Zinman, V. E. Drory, G. Borghero, G. Mora, A. Calvo, J. D. Rothstein, I. T. . A, C. Drepper, M. Sendtner, A. B. Singleton, J. P. Taylor, M. R. Cookson, G. Restagno, M. Sabatelli, R. Bowser, A. Chiò and B. J. Traynor
Topics: Aged, Aged; 80 and over, Amyotrophic Lateral Sclerosis; genetics/pathology, Computational Biology, DNA Mutational Analysis, DNA-Binding Proteins; metabolism, Family Health, Female, Genetic Predisposition to Disease; genetics, Genotype, Humans, Male, Middle Aged, Muscle; Skeletal; metabolism/pathology, Mutation; genetics, Neurologic Examination, Nuclear Matrix-Associated Proteins; genetics/metabolism, RNA-Binding Proteins; genetics/metabolism, Spinal Cord; metabolism/pathology
Publisher: 'Springer Science and Business Media LLC'
Year: 2014
DOI identifier: 10.1038/nn.3688
OAI identifier: oai:iris.unito.it:2318/153782
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