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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N. Fietz M, et al. Among authors: cooper jd. Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi: 10.1016/j.ymgme.2016.07.011. Epub 2016 Jul 25. Mol Genet Metab. 2016. PMID: 27553878 Free article.
Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene.
Sondhi D, Scott EC, Chen A, Hackett NR, Wong AM, Kubiak A, Nelvagal HR, Pearse Y, Cotman SL, Cooper JD, Crystal RG. Sondhi D, et al. Among authors: cooper jd. Hum Gene Ther. 2014 Mar;25(3):223-39. doi: 10.1089/hum.2012.253. Epub 2014 Mar 4. Hum Gene Ther. 2014. PMID: 24372003 Free PMC article.
Fetal gene therapy for neurodegenerative disease of infants.
Massaro G, Mattar CNZ, Wong AMS, Sirka E, Buckley SMK, Herbert BR, Karlsson S, Perocheau DP, Burke D, Heales S, Richard-Londt A, Brandner S, Huebecker M, Priestman DA, Platt FM, Mills K, Biswas A, Cooper JD, Chan JKY, Cheng SH, Waddington SN, Rahim AA. Massaro G, et al. Among authors: cooper jd. Nat Med. 2018 Sep;24(9):1317-1323. doi: 10.1038/s41591-018-0106-7. Epub 2018 Jul 16. Nat Med. 2018. PMID: 30013199 Free PMC article.
Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis.
Vuillemenot BR, Kennedy D, Cooper JD, Wong AM, Sri S, Doeleman T, Katz ML, Coates JR, Johnson GC, Reed RP, Adams EL, Butt MT, Musson DG, Henshaw J, Keve S, Cahayag R, Tsuruda LS, O'Neill CA. Vuillemenot BR, et al. Among authors: cooper jd. Mol Genet Metab. 2015 Feb;114(2):281-93. doi: 10.1016/j.ymgme.2014.09.004. Epub 2014 Sep 16. Mol Genet Metab. 2015. PMID: 25257657
832 results