Shaw, Christopher E.

Association of apolipoprotein E ∈4 allele with bulbar-onset motor neuron disease

Al-Chalabi, A., Bakker, M. C., Shaw, C. E., Lloyd, C. M., Enayat, Z. E., Leigh, P. N., Sham, P. S., Ball, D. M., & Powell, J. F. (1996) · The Lancet

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

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C9orf72 intermediate expansions of 24–30 repeats are associated with ALS

Initiative, A. D. N., Iacoangeli, A., Al Khleifat, A., Jones, A. R., Sproviero, W., Shatunov, A., Opie-Martin, S., Morrison, K. E., Shaw, P. J., Shaw, C. E., et al. (2019) · Acta Neuropathologica Communications

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

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Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration

Gomez-Deza, J., Lee, Y.-B., Troakes, C., Nolan, M., Al-Sarraj, S., Gallo, J.-M., & Shaw, C. E. (2015) · Acta Neuropathologica Communications

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

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ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function

Wu, J. J., Cai, A., Greenslade, J. E., Higgins, N. R., Fan, C., Le, N. T. T., Tatman, M., Whiteley, A. M., Prado, M. A., Dieriks, B. V., et al. (2020) · Proceedings of the National Academy of Sciences

Autophagy in Disease and TherapyAmyotrophic Lateral Sclerosis Research

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