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No cardiomyopathy in X-linked myopathy with excessive autophagy.
Saraste A, Koskenvuo JW, Airaksinen J, Ramachandran N, Munteanu I, Udd B, Huovinen S, Kalimo H, Minassian BA. Saraste A, et al. Among authors: minassian ba. Neuromuscul Disord. 2015 Jun;25(6):485-7. doi: 10.1016/j.nmd.2015.03.003. Epub 2015 Mar 17. Neuromuscul Disord. 2015. PMID: 25845477
Fine-mapping the gene for X-linked myopathy with excessive autophagy.
Munteanu I, Ramachandran N, Mnatzakanian GN, Villanova M, Fardeau M, Levy N, Kissel JT, Minassian BA. Munteanu I, et al. Among authors: minassian ba. Neurology. 2008 Sep 16;71(12):951-3. doi: 10.1212/01.wnl.0000325991.01899.35. Neurology. 2008. PMID: 18794500 No abstract available.
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.
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
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
Ramachandran N, Munteanu I, Wang P, Aubourg P, 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. Cell. 2009 Apr 17;137(2):235-46. doi: 10.1016/j.cell.2009.01.054. Cell. 2009. Retraction in: Cell. 2010 Sep 17;142(6):984. doi: 10.1016/j.cell.2010.08.034 PMID: 19379691 Free article. Retracted.
231 results