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7 results on '"Schymick, J. C."'

2. Erratum exome sequencing reveals VCP mutations as a cause of familial ALS

Author

Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., Ding, J., Mccluskey, L., Martinez-Lage, M., Falcone, D., Hernandez, D. G., Arepalli, S., Chong, S., Schymick, J. C., Rothstein, J., Landi, F., Wang, Y. -D., Calvo, A., Mora, G., Sabatelli, M., Monsurro, M. R., Battistini, S., Salvi, F., Spataro, R., Sola, P., Borghero, G., Galassi, G., Scholz, S. W., Taylor, J. P., Restagno, G., Chio, A., and Traynor, B. J.

Published
2011

3. TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis

Author

Guerreiro, R. J., Schymick, J. C., Crews, C., Singleton, A., Hardy, J., and Traynor, B. J.

Abstract

Background: TAR DNA binding protein, encoded by TARDBP, was shown to be a central component of ubiquitin-positive, tau-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). Recently, mutations in TARDBP have been linked to familial and sporadic ALS.Methodology/Principal Findings: To further examine the frequency of mutations in TARDBP in sporadic ALS, 279 ALS cases and 806 neurologically normal control individuals of European descent were screened for sequence variants, copy number variants, genetic and haplotype association with disease. An additional 173 African samples from the Human Gene Diversity Panel were sequenced as this population had the highest likelihood of finding changes. No mutations were found in the ALS cases. Several genetic variants were identified in controls, which were considered as non-pathogenic changes. Furthermore, pathogenic structural variants were not observed in the cases and there was no genetic or haplotype association with disease status across the TARDBP locus.Conclusions: Our data indicate that genetic variation in TARDBP is not a common cause of sporadic ALS in North American.

Published
2008

4. Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients

Author

Traynor, B. J., primary, Nalls, M., additional, Lai, S.-L., additional, Gibbs, R. J., additional, Schymick, J. C., additional, Arepalli, S., additional, Hernandez, D., additional, van der Brug, M. P., additional, Johnson, J. O., additional, Dillman, A., additional, Cookson, M., additional, Moglia, C., additional, Calvo, A., additional, Restagno, G., additional, Mora, G., additional, and Chio, A., additional

Published
2010
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6. Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes

Author

Schymick, J C, primary, Yang, Y, additional, Andersen, P M, additional, Vonsattel, J P, additional, Greenway, M, additional, Momeni, P, additional, Elder, J, additional, Chio, A, additional, Restagno, G, additional, Robberecht, W, additional, Dahlberg, C, additional, Mukherjee, O, additional, Goate, A, additional, Graff-Radford, N, additional, Caselli, R J, additional, Hutton, M, additional, Gass, J, additional, Cannon, A, additional, Rademakers, R, additional, Singleton, A B, additional, Hardiman, O, additional, Rothstein, J, additional, Hardy, J, additional, and Traynor, B J, additional

Published
2006
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7. Genetics of sporadic amyotrophic lateral sclerosis.

Author

Schymick JC, Talbot K, and Traynor BJ

Subjects
Aryldialkylphosphatase genetics, Cyclic AMP Response Element-Binding Protein genetics, DNA-(Apurinic or Apyrimidinic Site) Lyase genetics, Dynactin Complex, Endosomal Sorting Complexes Required for Transport, Hemochromatosis Protein, Histocompatibility Antigens Class I genetics, Humans, Intercellular Signaling Peptides and Proteins genetics, Intermediate Filament Proteins genetics, Membrane Glycoproteins genetics, Membrane Proteins genetics, Microtubule-Associated Proteins genetics, Nerve Degeneration genetics, Nerve Tissue Proteins genetics, Neurofilament Proteins genetics, Peripherins, Progranulins, RNA-Binding Proteins genetics, Ribonuclease, Pancreatic genetics, SMN Complex Proteins, Superoxide Dismutase genetics, Superoxide Dismutase-1, Vascular Endothelial Growth Factor A genetics, Amyotrophic Lateral Sclerosis genetics
Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized clinically by rapidly progressive paralysis leading ultimately to death from respiratory failure. There is substantial evidence suggesting that ALS is a heritable disease, and a number of genes have been identified as being causative in familial ALS. In contrast, the genetics of the much commoner sporadic form of the disease is poorly understood and no single gene has been definitively shown to increase the risk of developing ALS. In this review, we discuss the genetic evidence for each candidate gene that has been putatively associated with increased risk of sporadic ALS. We also review whole genome association studies of ALS and discuss the potential of this methodology for identifying genes relevant to motor neuron degeneration.

Published
2007
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