Published in Neurobiol Dis on August 18, 2011
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Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis. J Neurosci (2006) 1.33
Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations. Blood Cells Mol Dis (2006) 1.28
Combination brain and systemic injections of AAV provide maximal functional and survival benefits in the Niemann-Pick mouse. Proc Natl Acad Sci U S A (2007) 1.27
Targeted depletion of TDP-43 expression in the spinal cord motor neurons leads to the development of amyotrophic lateral sclerosis-like phenotypes in mice. J Biol Chem (2012) 1.26
Ability of adeno-associated virus serotype 8-mediated hepatic expression of acid alpha-glucosidase to correct the biochemical and motor function deficits of presymptomatic and symptomatic Pompe mice. Hum Gene Ther (2008) 1.26
Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice. Biochem J (2005) 1.24
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AAV4-mediated expression of IGF-1 and VEGF within cellular components of the ventricular system improves survival outcome in familial ALS mice. Mol Ther (2010) 1.22
Intravenous administration of AAV2/9 to the fetal and neonatal mouse leads to differential targeting of CNS cell types and extensive transduction of the nervous system. FASEB J (2011) 1.22
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AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease. J Gene Med (2006) 1.17
Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease. Mol Genet Metab (2010) 1.17
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. Clin Chim Acta (2010) 1.16
Inhibiting glycosphingolipid synthesis ameliorates hepatic steatosis in obese mice. Hepatology (2009) 1.16
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Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease. Proc Natl Acad Sci U S A (2005) 1.14
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Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. Mol Genet Metab (2009) 1.13
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis (2010) 1.13
Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease. Exp Neurol (2008) 1.13
Biomonitoring of bisphenol A concentrations in maternal and umbilical cord blood in regard to birth outcomes and adipokine expression: a birth cohort study in Taiwan. Environ Health (2011) 1.12
Establishing a standardized therapeutic testing protocol for spinal muscular atrophy. Neurobiol Dis (2006) 1.11
Timing of therapeutic intervention determines functional and survival outcomes in a mouse model of late infantile batten disease. Mol Ther (2007) 1.11
Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy. J Inherit Metab Dis (2010) 1.10
Cell and gene-based therapies for the lysosomal storage diseases. Curr Gene Ther (2006) 1.10
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Inhibiting TGF-β activity improves respiratory function in mdx mice. Am J Pathol (2011) 1.09
Translational fidelity of intrathecal delivery of self-complementary AAV9-survival motor neuron 1 for spinal muscular atrophy. Hum Gene Ther (2014) 1.08
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Clin Chim Acta (2010) 1.06
Zinc oxide nanoparticles interfere with zinc ion homeostasis to cause cytotoxicity. Toxicol Sci (2011) 1.06
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Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease. PLoS One (2010) 1.04