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Page 1
Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.
van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, Giugliani R, Harmatz P, Hogan M, Jones S, Kearney S, Muenzer J, Rust S, Semrud-Clikeman M, Wijburg FA, Yu ZF, Janzen D, Shapiro E. van der Lee JH, et al. Among authors: escolar ml. Mol Genet Metab. 2017 Jun;121(2):70-79. doi: 10.1016/j.ymgme.2017.05.004. Epub 2017 May 6. Mol Genet Metab. 2017. PMID: 28501294 Free article.
Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.
van der Lee JH, Morton J, Adams HR, Clarke L, Eisengart JB, Escolar ML, Giugliani R, Harmatz P, Hogan M, Kearney S, Muenzer J, Muschol N, Rust S, Saville BR, Semrud-Clikeman M, Wang R, Shapiro E. van der Lee JH, et al. Among authors: escolar ml. Mol Genet Metab. 2020 Sep-Oct;131(1-2):181-196. doi: 10.1016/j.ymgme.2020.08.007. Epub 2020 Aug 31. Mol Genet Metab. 2020. PMID: 32917509 Free article.
Treatment of brain disease in the mucopolysaccharidoses.
Scarpa M, Orchard PJ, Schulz A, Dickson PI, Haskins ME, Escolar ML, Giugliani R. Scarpa M, et al. Among authors: escolar ml. Mol Genet Metab. 2017 Dec;122S:25-34. doi: 10.1016/j.ymgme.2017.10.007. Epub 2017 Oct 16. Mol Genet Metab. 2017. PMID: 29153844 Free article. Review.
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A; Global Leukodystrophy Initiative (GLIA) Consortium. Adang LA, et al. Mol Genet Metab. 2017 Sep;122(1-2):18-32. doi: 10.1016/j.ymgme.2017.08.006. Epub 2017 Aug 20. Mol Genet Metab. 2017. PMID: 28863857 Free PMC article.
Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB.
Whitley CB, Vijay S, Yao B, Pineda M, Parker GJM, Rojas-Caro S, Zhang X, Dai Y, Cinar A, Bubb G, Patki KC, Escolar ML. Whitley CB, et al. Among authors: escolar ml. Mol Genet Metab. 2019 Feb;126(2):131-138. doi: 10.1016/j.ymgme.2018.12.003. Epub 2018 Dec 6. Mol Genet Metab. 2019. PMID: 30635159 Clinical Trial.
Disease specific therapies in leukodystrophies and leukoencephalopathies.
Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A; GLIA Consortium. Helman G, et al. Among authors: escolar ml. Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7. Mol Genet Metab. 2015. PMID: 25684057 Free PMC article.
Psychosine, a marker of Krabbe phenotype and treatment effect.
Escolar ML, Kiely BT, Shawgo E, Hong X, Gelb MH, Orsini JJ, Matern D, Poe MD. Escolar ML, et al. Mol Genet Metab. 2017 Jul;121(3):271-278. doi: 10.1016/j.ymgme.2017.05.015. Epub 2017 May 22. Mol Genet Metab. 2017. PMID: 28579020 Free PMC article.
93 results