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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Ro… See abstract for full author list ➔ Crow YJ, et al. Among authors: agosta g. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
CSF and Blood Levels of GFAP in Alexander Disease.
Jany PL, Agosta GE, Benko WS, Eickhoff JC, Keller SR, Köehler W, Koeller D, Mar S, Naidu S, Marie Ness J, Pareyson D, Renaud DL, Salsano E, Schiffmann R, Simon J, Vanderver A, Eichler F, van der Knaap MS, Messing A. Jany PL, et al. eNeuro. 2015 Oct 1;2(5):ENEURO.0080-15.2015. doi: 10.1523/ENEURO.0080-15.2015. eCollection 2015 Sep. eNeuro. 2015. PMID: 26478912 Free PMC article.
Epilepsia partialis continua associated with levamisole.
Aberastury MN, Silva WH, Vaccarezza MM, Maxit C, Agosta G. Aberastury MN, et al. Among authors: agosta g. Pediatr Neurol. 2011 May;44(5):385-8. doi: 10.1016/j.pediatrneurol.2010.11.020. Pediatr Neurol. 2011. PMID: 21481750
Long-term follow-up of the ketogenic diet for refractory epilepsy: multicenter Argentinean experience in 216 pediatric patients.
Caraballo R, Vaccarezza M, Cersósimo R, Rios V, Soraru A, Arroyo H, Agosta G, Escobal N, Demartini M, Maxit C, Cresta A, Marchione D, Carniello M, Paníco L. Caraballo R, et al. Among authors: agosta g. Seizure. 2011 Oct;20(8):640-5. doi: 10.1016/j.seizure.2011.06.009. Epub 2011 Jul 16. Seizure. 2011. PMID: 21763159 Free article.
Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling.
Perez Maturo J, Vega P, Medina N, Salinas V, Pauni M, Agosta G, Muntadas Rausei J, Kauffman M. Perez Maturo J, et al. Among authors: agosta g. Am J Med Genet A. 2019 Jun;179(6):1074-1076. doi: 10.1002/ajmg.a.61135. Epub 2019 Mar 26. Am J Med Genet A. 2019. PMID: 30912254 No abstract available.
45 results