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230 results

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Page 1
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
Ruggieri A, Naumenko S, Smith MA, Iannibelli E, Blasevich F, Bragato C, Gibertini S, Barton K, Vorgerd M, Marcus K, Wang P, Maggi L, Mantegazza R, Dowling JJ, Kley RA, Mora M, Minassian BA. Ruggieri A, et al. Among authors: minassian ba. Acta Neuropathol. 2020 Aug;140(2):231-235. doi: 10.1007/s00401-020-02164-4. Epub 2020 May 25. Acta Neuropathol. 2020. PMID: 32451610 Free PMC article. No abstract available.
Glycogen hyperphosphorylation underlies lafora body formation.
Turnbull J, Wang P, Girard JM, Ruggieri A, Wang TJ, Draginov AG, Kameka AP, Pencea N, Zhao X, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: minassian ba. Ann Neurol. 2010 Dec;68(6):925-33. doi: 10.1002/ana.22156. Ann Neurol. 2010. PMID: 21077101
Lafora bodies in skeletal muscle are fiber type specific.
Turnbull J, Girard JM, Pencea N, Zhao X, Graham TE, Wang P, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: minassian ba. Neurology. 2011 May 10;76(19):1674-6. doi: 10.1212/WNL.0b013e318219faf6. Epub 2011 Mar 30. Neurology. 2011. PMID: 21451149 Free PMC article. No abstract available.
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
Ramachandran N, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA. Ramachandran N, et al. Among authors: minassian ba. Acta Neuropathol. 2013 Mar;125(3):439-57. doi: 10.1007/s00401-012-1073-6. Epub 2013 Jan 12. Acta Neuropathol. 2013. PMID: 23315026
PTG protein depletion rescues malin-deficient Lafora disease in mouse.
Turnbull J, Epp JR, Goldsmith D, Zhao X, Pencea N, Wang P, Frankland PW, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: minassian ba. Ann Neurol. 2014 Mar;75(3):442-6. doi: 10.1002/ana.24104. Epub 2014 Mar 7. Ann Neurol. 2014. PMID: 24419970
Autophagy in neuropathology.
Minassian BA, Kalimo H. Minassian BA, et al. Acta Neuropathol. 2015 Mar;129(3):333-5. doi: 10.1007/s00401-015-1396-1. Acta Neuropathol. 2015. PMID: 25648862 No abstract available.
Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy.
Ruggieri A, Ramachandran N, Wang P, Haan E, Kneebone C, Manavis J, Morandi L, Moroni I, Blumbergs P, Mora M, Minassian BA. Ruggieri A, et al. Among authors: minassian ba. Neuromuscul Disord. 2015 Mar;25(3):207-11. doi: 10.1016/j.nmd.2014.11.014. Epub 2014 Nov 26. Neuromuscul Disord. 2015. PMID: 25683699
230 results