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Page 1
Case definition and classification of leukodystrophies and leukoencephalopathies.
Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium. Vanderver A, et al. Among authors: eichler f. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Mol Genet Metab. 2015. PMID: 25649058 Free PMC article. Review.
Leukodystrophies: classification, diagnosis, and treatment.
Costello DJ, Eichler AF, Eichler FS. Costello DJ, et al. Among authors: eichler af, eichler fs. Neurologist. 2009 Nov;15(6):319-28. doi: 10.1097/NRL.0b013e3181b287c8. Neurologist. 2009. PMID: 19901710 Review.
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: eichler f. 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.
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. Among authors: eichler f. 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.
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. Among authors: eichler f. 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.
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA. Ahrens-Nicklas R, et al. Among authors: eichler f. Mol Genet Metab. 2018 Mar;123(3):337-346. doi: 10.1016/j.ymgme.2018.01.005. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29397290 Free PMC article.
Immune response in leukodystrophies.
Eichler F, Van Haren K. Eichler F, et al. Pediatr Neurol. 2007 Oct;37(4):235-44. doi: 10.1016/j.pediatrneurol.2007.06.011. Pediatr Neurol. 2007. PMID: 17903666 Review.
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ. Stockler-Ipsiroglu S, et al. Among authors: eichler f. Mol Genet Metab. 2015 Dec;116(4):252-9. doi: 10.1016/j.ymgme.2015.10.003. Epub 2015 Oct 17. Mol Genet Metab. 2015. PMID: 26490222 Free article.
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT; Undiagnosed Diseases Network (UDN). Rodan LH, et al. Among authors: eichler f. Mol Genet Metab. 2018 Sep;125(1-2):118-126. doi: 10.1016/j.ymgme.2018.06.006. Epub 2018 Jun 15. Mol Genet Metab. 2018. PMID: 30031689 Free PMC article.
152 results