Results 91 to 100 of about 2,165 (162)

Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease. [PDF]

Hum Gene Ther
Nagy A, Eichler F, Bley A, Bredow J, Fay A, Townsend EL, Leiro B, Shaywitz A, Laforet G, Crippen-Harmon D, Williams R.   +10 more
europepmc   +1 more source

Myelin lesion in the aspartoacylase (Aspa) knockout rat, an animal model for Canavan disease. [PDF]

Exp Anim
Takeda S, Hoshiai R, Tanaka M, Izawa T, Yamate J, Kuramoto T, Kuwamura M.   +6 more
europepmc   +1 more source

Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease. [PDF]

Mol Genet Metab
Posern C, Dreyer B, Maier SL, Eichler F, Gelb MH, Santer R, Bley A, Murko S.   +7 more
europepmc   +1 more source

Mild Canavan disease [PDF]

, 2020
openaire   +1 more source

Brain Nat8l Knockdown Suppresses Spongiform Leukodystrophy in an Aspartoacylase-Deficient Canavan Disease Mouse Model. [PDF]

Mol Ther, 2018
Bannerman P, Guo F, Chechneva O, Burns T, Zhu X, Wang Y, Kim B, Singhal NK, McDonough JA, Pleasure D.   +9 more
europepmc   +1 more source

Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy. [PDF]

Acta Neuropathol, 2018
von Jonquieres G, Spencer ZHT, Rowlands BD, Klugmann CB, Bongers A, Harasta AE, Parley KE, Cederholm J, Teahan O, Pickford R, Delerue F, Ittner LM, Fröhlich D, McLean CA, Don AS, Schneider M, Housley GD, Rae CD, Klugmann M.   +18 more
europepmc   +1 more source

Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model. [PDF]

Ann Neurol, 2015
Guo F, Bannerman P, Mills Ko E, Miers L, Xu J, Burns T, Li S, Freeman E, McDonough JA, Pleasure D.   +9 more
europepmc   +1 more source

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. [PDF]

Hum Mutat, 2017
Mendes MI, Smith DE, Pop A, Lennertz P, Fernandez Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Barić I, Boelen C, Campistol J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M, Salomons GS.   +18 more
europepmc   +1 more source

Severe Canavan disease [PDF]

, 2020
openaire   +1 more source

Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease. [PDF]

JCI Insight, 2017
Gessler DJ, Li D, Xu H, Su Q, Sanmiguel J, Tuncer S, Moore C, King J, Matalon R, Gao G.   +9 more
europepmc   +1 more source