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Brain : a Journal of Neurology|February 28, 2012
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72Bradley F Boeve, Kevin B Boylan, Neill R Graff-Radford, et al.Neurobiology of Aging|July 31, 2012
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotypeNicola J Rutherford, Michael G Heckman, Mariely Dejesus-Hernandez, et al.Human Molecular Genetics|May 26, 2011
Ataxin-2 repeat-length variation and neurodegenerationOwen A Ross, Nicola J Rutherford, Matt Baker, et al.Neurobiology of Aging|May 29, 2014
Ataxin-2 as potential disease modifier in C9ORF72 expansion carriersMarka van Blitterswijk, Bianca Mullen, Michael G Heckman, et al.Nature Genetics|December 27, 2011
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroidsRosa Rademakers, Matt Baker, Alexandra M Nicholson, et al.Proceedings of the National Academy of Sciences of the United States of America|November 9, 2011
A yeast functional screen predicts new candidate ALS disease genesJulien Couthouis, Michael P Hart, James Shorter, et al.Molecular Neurodegeneration|September 21, 2014
Genetic modifiers in carriers of repeat expansions in the C9ORF72 geneMarka van Blitterswijk, Bianca Mullen, Aleksandra Wojtas, et al.Acta Neuropathologica|January 4, 2014
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementiaMarka van Blitterswijk, Bianca Mullen, Alexandra M Nicholson, et al.Journal of Medical Genetics|April 8, 2014
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratoriesChizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, et al.Neurology|September 13, 2013
C9ORF72 repeat expansions in cases with previously identified pathogenic mutationsMarka van Blitterswijk, Matthew C Baker, Mariely DeJesus-Hernandez, et al.Pageof 6