Search details
1.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
N Engl J Med
; 370(6): 533-42, 2014 Feb 06.
Article
in English
| MEDLINE | ID: mdl-24499211
2.
rAAV Gene Therapy in a Canavan's Disease Mouse Model Reveals Immune Impairments and an Extended Pathology Beyond the Central Nervous System.
Mol Ther
; 24(6): 1030-1041, 2016 06.
Article
in English
| MEDLINE | ID: mdl-27039844
3.
Persistence of müllerian duct structures in a genetic male with distal monosomy 10q.
Am J Med Genet A
; 167A(4): 791-6, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25820398
4.
A single intravenous rAAV injection as late as P20 achieves efficacious and sustained CNS Gene therapy in Canavan mice.
Mol Ther
; 21(12): 2136-47, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-23817205
5.
Therapeutic development for Canavan disease using patient iPSCs introduced with the wild-type ASPA gene.
iScience
; 25(6): 104391, 2022 Jun 17.
Article
in English
| MEDLINE | ID: mdl-35637731
6.
Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease.
Mol Genet Metab
; 102(2): 176-80, 2011 Feb.
Article
in English
| MEDLINE | ID: mdl-21095151
7.
Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination.
Neurobiol Dis
; 40(2): 432-43, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-20637282
8.
Neuronal localization of the mitochondrial protein NIPSNAP1 in rat nervous system.
Eur J Neurosci
; 32(4): 560-9, 2010 Aug.
Article
in English
| MEDLINE | ID: mdl-20646061
9.
Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs.
Adv Sci (Weinh)
; 7(23): 2002155, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-33304759
10.
Association between cytokine gene polymorphisms and risk for upper respiratory tract infection and acute otitis media.
Clin Infect Dis
; 49(2): 257-61, 2009 Jul 15.
Article
in English
| MEDLINE | ID: mdl-19522649
11.
Lack of aspartoacylase activity disrupts survival and differentiation of neural progenitors and oligodendrocytes in a mouse model of Canavan disease.
J Neurosci Res
; 87(15): 3415-27, 2009 Nov 15.
Article
in English
| MEDLINE | ID: mdl-19739253
12.
Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin.
Genet Test
; 11(2): 174-8, 2007.
Article
in English
| MEDLINE | ID: mdl-17627389
13.
Absence-like and tonic seizures in aspartoacylase/attractin double-mutant mice.
Exp Anim
; 56(2): 161-5, 2007 Apr.
Article
in English
| MEDLINE | ID: mdl-17460362
14.
Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease.
JCI Insight
; 2(3): e90807, 2017 02 09.
Article
in English
| MEDLINE | ID: mdl-28194442
15.
Identification of novel candidate disease genes from de novo exonic copy number variants.
Genome Med
; 9(1): 83, 2017 09 21.
Article
in English
| MEDLINE | ID: mdl-28934986
16.
Canavan disease: studies on the knockout mouse.
Adv Exp Med Biol
; 576: 77-93; discussion 361-3, 2006.
Article
in English
| MEDLINE | ID: mdl-16802706
17.
Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.
Eur J Med Genet
; 59(9): 470-3, 2016 Sep.
Article
in English
| MEDLINE | ID: mdl-27238888
18.
Acute Otitis Media and Other Complications of Viral Respiratory Infection.
Pediatrics
; 137(4)2016 Apr.
Article
in English
| MEDLINE | ID: mdl-27020793
19.
Expression of calpastatin, minopontin, NIPSNAP1, rabaptin-5 and neuronatin in the phenylketonuria (PKU) mouse brain: possible role on cognitive defect seen in PKU.
Neurochem Int
; 46(8): 595-9, 2005 Jun.
Article
in English
| MEDLINE | ID: mdl-15863237
20.
Altered expression of myocilin in the brain of a mouse model for phenylketonuria (PKU).
Neurosci Lett
; 382(3): 323-6, 2005 Jul 15.
Article
in English
| MEDLINE | ID: mdl-15925112