Detalhe da pesquisa
1.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
; 146(2): 353-368, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119330
2.
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
J Inherit Metab Dis
; 46(2): 206-219, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36752951
3.
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy.
Brain
; 145(1): 105-118, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34398223
4.
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
Neurogenetics
; 21(4): 289-299, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32632536
5.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31820119
6.
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Mol Genet Metab Rep
; 36: 100997, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37600231
7.
Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype.
Blood
; 115(26): 5329-37, 2010 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20385789
8.
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.
Orphanet J Rare Dis
; 17(1): 31, 2022 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35109913
9.
Circadian time-place learning in mice depends on Cry genes.
Curr Biol
; 18(11): 844-8, 2008 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-18514517
10.
Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism.
Metabolites
; 11(1)2020 Dec 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33375624
11.
Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease.
Mol Ther Methods Clin Dev
; 17: 1014-1025, 2020 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32462050
12.
Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform.
Metabolites
; 9(12)2019 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31779119
13.
Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.
Mol Ther Methods Clin Dev
; 8: 152-165, 2018 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29687034
14.
Neuroadaptive effects of active versus passive drug administration in addiction research.
Trends Pharmacol Sci
; 24(11): 566-73, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14607079
15.
Gene transcripts selectively down-regulated in the shell of the nucleus accumbens long after heroin self-administration are up-regulated in the core independent of response contingency.
FASEB J
; 18(1): 200-2, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14597559
16.
Active heroin administration induces specific genomic responses in the nucleus accumbens shell.
FASEB J
; 16(14): 1961-3, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12397092
17.
Morphine causes a delayed increase in glutamate receptor functioning in the nucleus accumbens core.
Eur J Pharmacol
; 511(1): 27-30, 2005 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-15777776
18.
Altered phase-relationship between peripheral oscillators and environmental time in Cry1 or Cry2 deficient mouse models for early and late chronotypes.
PLoS One
; 8(12): e83602, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24386234
19.
Interval timing is intact in arrhythmic Cry1/Cry2-deficient mice.
J Biol Rhythms
; 26(4): 305-13, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21775289
20.
Long-term gene expression in the nucleus accumbens following heroin administration is subregion-specific and depends on the nature of drug administration.
Addict Biol
; 10(1): 91-100, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15849023