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Page 1
Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
Nagy A, Eichler F, Bley A, Bredow J, Fay A, Townsend EL, Leiro B, Shaywitz A, Laforet G, Crippen-Harmon D, Williams R. Nagy A, et al. Hum Gene Ther. 2024 Dec 4. doi: 10.1089/hum.2024.168. Online ahead of print. Hum Gene Ther. 2024. PMID: 39628365
An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs.
Vasireddy V, Maguire CA, Anderson DW, Ng C, Gong Y, Eichler F, Fourcade S, Guilera C, Onieva A, Sanchez A, Leal-Julià M, Verdés S, Dijkstra IME, Kemp S, Park H, Lutz T, Clark SW, Bosch A, Pujol A, Kozarsky K. Vasireddy V, et al. Mol Ther Methods Clin Dev. 2024 Oct 9;32(4):101354. doi: 10.1016/j.omtm.2024.101354. eCollection 2024 Dec 12. Mol Ther Methods Clin Dev. 2024. PMID: 39524975 Free PMC article.
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
Adang LA, Groeschel S, Grzyb C, D'Aiello R, Gavazzi F, Sherbini O, Bronner N, Patel A, Vincent A, Sevagamoorthy A, Mutua S, Muirhead K, Schmidt J, Pizzino A, Yu E, Jin D, Eichler F, Fraser JL, Emrick L, Van Haren K, Boulanger JM, Ruzhnikov M, Sylvain M, Nguyen CÉ, Potic A, Keller S, Fatemi A, Uebergang E, Poe M, Yazdani PA, Bernat J, Lindstrom K, Bonkowsky JL, Bernard G, Stutterd CA, Orchard P, Gupta AO, Ljungberg M, Groenborg S, Zambon A, Locatelli S, Fumagalli F, Elguen S, Kehrer C, Krägeloh-Mann I, Shults J, Vanderver A, Escolar ML. Adang LA, et al. Mol Genet Metab. 2024 Aug;142(4):108521. doi: 10.1016/j.ymgme.2024.108521. Epub 2024 Jun 29. Mol Genet Metab. 2024. PMID: 38964050
Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy.
Lauer A, Speroni SL, Choi M, Da X, Duncan C, McCarthy S, Krishnan V, Lusk CA, Rohde D, Hansen MB, Kalpathy-Cramer J, Loes DJ, Caruso PA, Williams DA, Mouridsen K, Emblem KE, Eichler FS, Musolino PL. Lauer A, et al. Among authors: eichler fs. Nat Commun. 2023 Apr 5;14(1):1900. doi: 10.1038/s41467-023-37262-w. Nat Commun. 2023. PMID: 37019892 Free PMC article.
Characterizing visual processing deficits in cerebral adrenoleukodystrophy.
Corre CS, Bambery M, Bennett CR, Nagy A, Manley CE, Winter E, Peregoy C, Kelly D, Andonian H, Maciel S, Becker C, Merabet LB, Eichler FS. Corre CS, et al. Among authors: eichler fs. Brain Dev. 2024 Nov;46(10):344-350. doi: 10.1016/j.braindev.2024.09.008. Epub 2024 Oct 12. Brain Dev. 2024. PMID: 39396893
73 results