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LGI2 truncation causes a remitting focal epilepsy in dogs.
PLoS Genet. 2011 Jul;7(7):e1002194. doi: 10.1371/journal.pgen.1002194. Epub 2011 Jul 28.
PLoS Genet. 2011.
PMID: 21829378
Free PMC article.
Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.
Rilstone JJ, Coelho FM, Minassian BA, Andrade DM.
Rilstone JJ, et al.
Epilepsia. 2012 Aug;53(8):1421-8. doi: 10.1111/j.1528-1167.2012.03583.x. Epub 2012 Jul 10.
Epilepsia. 2012.
PMID: 22780858
Free article.
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Brain dopamine-serotonin vesicular transport disease and its treatment.
Rilstone JJ, Alkhater RA, Minassian BA.
Rilstone JJ, et al.
N Engl J Med. 2013 Feb 7;368(6):543-50. doi: 10.1056/NEJMoa1207281. Epub 2013 Jan 30.
N Engl J Med. 2013.
PMID: 23363473
Free article.
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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: rilstone jj.
Acta Neuropathol. 2013 Mar;125(3):439-57. doi: 10.1007/s00401-012-1073-6. Epub 2013 Jan 12.
Acta Neuropathol. 2013.
PMID: 23315026
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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: rilstone jj.
Cell. 2009 Apr 17;137(2):235-46. doi: 10.1016/j.cell.2009.01.054.
Cell. 2009.
PMID: 19379691
Free article.
Retracted.
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Global landscape of protein complexes in the yeast Saccharomyces cerevisiae.
Krogan NJ, Cagney G, Yu H, Zhong G, Guo X, Ignatchenko A, Li J, Pu S, Datta N, Tikuisis AP, Punna T, Peregrín-Alvarez JM, Shales M, Zhang X, Davey M, Robinson MD, Paccanaro A, Bray JE, Sheung A, Beattie B, Richards DP, Canadien V, Lalev A, Mena F, Wong P, Starostine A, Canete MM, Vlasblom J, Wu S, Orsi C, Collins SR, Chandran S, Haw R, Rilstone JJ, Gandi K, Thompson NJ, Musso G, St Onge P, Ghanny S, Lam MH, Butland G, Altaf-Ul AM, Kanaya S, Shilatifard A, O'Shea E, Weissman JS, Ingles CJ, Hughes TR, Parkinson J, Gerstein M, Wodak SJ, Emili A, Greenblatt JF.
Krogan NJ, et al. Among authors: rilstone jj.
Nature. 2006 Mar 30;440(7084):637-43. doi: 10.1038/nature04670. Epub 2006 Mar 22.
Nature. 2006.
PMID: 16554755
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