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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: ramachandran n. 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
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. Acta Neuropathol. 2013 Mar;125(3):439-57. doi: 10.1007/s00401-012-1073-6. Epub 2013 Jan 12. Acta Neuropathol. 2013. PMID: 23315026
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: ramachandran n. 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
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. Cell. 2009 Apr 17;137(2):235-46. doi: 10.1016/j.cell.2009.01.054. Cell. 2009. PMID: 19379691 Free article. Retracted.
Late adult-onset of X-linked myopathy with excessive autophagy.
Crockett CD, Ruggieri A, Gujrati M, Zallek CM, Ramachandran N, Minassian BA, Moore SA. Crockett CD, et al. Among authors: ramachandran n. Muscle Nerve. 2014 Jul;50(1):138-44. doi: 10.1002/mus.24197. Epub 2014 May 17. Muscle Nerve. 2014. PMID: 24488655 Free PMC article.
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: ramachandran n. Neurology. 2008 Sep 16;71(12):951-3. doi: 10.1212/01.wnl.0000325991.01899.35. Neurology. 2008. PMID: 18794500 No abstract available.
Progressive myoclonus epilepsy.
Girard JM, Turnbull J, Ramachandran N, Minassian BA. Girard JM, et al. Among authors: ramachandran n. Handb Clin Neurol. 2013;113:1731-6. doi: 10.1016/B978-0-444-59565-2.00043-5. Handb Clin Neurol. 2013. PMID: 23622396 Review.
Fluorophore-labeled S-nitrosothiols.
Chen X, Wen Z, Xian M, Wang K, Ramachandran N, Tang X, Schlegel HB, Mutus B, Wang PG. Chen X, et al. Among authors: ramachandran n. J Org Chem. 2001 Sep 7;66(18):6064-73. doi: 10.1021/jo015658p. J Org Chem. 2001. PMID: 11529732
138 results