Search Results - "Minassian, B.A."

Non-coding VMA21 deletions cause X-linked Myopathy with Excessive Autophagy by Ruggieri, A, Ramachandran, N, Wang, P, Haan, E, Kneebone, C, Manavis, J, Morandi, L, Moroni, I, Blumbergs, P, Mora, M, Minassian, B.A

“…Highlights • XMEA mutations to date are single-nucleotide changes reducing VMA21 expression. • We now report 2 new non-coding microdeletions reducing VMA21…”
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P2.23 Congenital form of X-linked myopathy with excessive autophagy associated with VMA21 mutation by Ikeda, C, Honda, R, Komaki, H, Sasaki, M, Munteanu, I, Ramachandran, N, Minassian, B.A, Tsuburaya, R, Hayashi, Y.K, Nishino, I

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Lafora bodies in skeletal muscle are fiber type specific by Turnbull, J, Girard, J-M, Pencea, N, Zhao, X, Graham, T E, Wang, P, Ackerley, C A, Minassian, B A

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Lafora disease: Current biology and therapeutic approaches by Mitra, S., Gumusgoz, E., Minassian, B.A.

“…The ubiquitin system impacts most cellular processes and is altered in numerous neurodegenerative diseases. However, little is known about its role in…”
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Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy by MINASSIAN, B. A, IANZANO, L, MELOCHE, M, ANDERMANN, E, ROULEAU, G. A, DELGADO-ESCUETA, A. V, SCHERER, S. W

“…Lafora's disease is a progressive myoclonus epilepsy with pathognomonic inclusions (polyglucosan bodies) caused by mutations in the EPM2A gene. EPM2A codes for…”
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