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Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease

Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.31-31, Article 31

2022

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Altered phase-relationship between peripheral oscillators and environmental time in Cry1 or Cry2 deficient mouse models for early and late chronotypes

PloS one, 2013-12, Vol.8 (12), p.e83602

2013

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Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype

Blood, 2010-07, Vol.115 (26), p.5329-5337

2010

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Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism

Metabolites, 2020-12, Vol.11 (1), p.8

2020

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Neuroadaptive effects of active versus passive drug administration in addiction research

Trends in pharmacological sciences (Regular ed.), 2003-11, Vol.24 (11), p.566-573

2003

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Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy

Brain (London, England : 1878), 2022-03, Vol.145 (1), p.105-118

2022

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Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE

Molecular therapy. Methods & clinical development, 2018-03, Vol.8 (C), p.152-165

2018

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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Acta neuropathologica, 2023-08, Vol.146 (2), p.353-368

2023

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Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders

Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.206-219

2023

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Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

Neurogenetics, 2020-10, Vol.21 (4), p.289-299

2020

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Circadian Time-Place Learning in Mice Depends on Cry Genes

Current biology, 2008-06, Vol.18 (11), p.844-848

2008

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Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform

Metabolites, 2019-11, Vol.9 (12), p.289

2019

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GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing

Molecular genetics and metabolism reports, 2023-09, Vol.36, p.100997, Article 100997

2023

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Interval Timing Is Intact in Arrhythmic Cry1/Cry2-Deficient Mice

Journal of biological rhythms, 2011-08, Vol.26 (4), p.305-313

2011

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Long-Term Gene Expression in the Nucleus Accumbens Following Heroin Administration is Subregion-Specific and Depends on the Nature of Drug Administration

Addiction biology, 2005-03, Vol.10 (1), p.91-100

2005

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Morphine causes a delayed increase in glutamate receptor functioning in the nucleus accumbens core

European journal of pharmacology, 2005-03, Vol.511 (1), p.27-30

2005

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Active heroin administration induces specific genomic responses in the nucleus accumbens shell

The FASEB journal, 2002-12, Vol.16 (14), p.1961-1963

2002

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Is histamine the final neurotransmitter in the entrainment of circadian rhythms in mammals?

Trends in Pharmacological Sciences, 2000-08, Vol.21 (8), p.293-298

2000

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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

The FASEB journal, 2004-01, Vol.18 (1), p.200-202

2004

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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 neuropathologica, 2020-03, Vol.139 (3), p.415-442

2020

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GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing

Molecular genetics and metabolism reports, 2023, Vol.36, p.100997-100997

2023

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The Effect of Mutations in the DRY Motif on the Constitutive Activity and Structural Instability of the Histamine H2Receptor

Molecular pharmacology, 2000-05, Vol.57 (5), p.890

2000

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Using computers

The Mathematics teacher, 1985-01, Vol.78 (1), p.16-67

Jacobs, Edwin H.

1985

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Readers' Dialogue

The Arithmetic teacher, 1985-02, Vol.32 (6), p.6-57

1985

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Seasonal asthma in Melbourne, Australia, and some observations on the occurrence of thunderstorm asthma and its predictability

PloS one, 2018-04, Vol.13 (4), p.e0194929-e0194929

2018

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Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease

Altered phase-relationship between peripheral oscillators and environmental time in Cry1 or Cry2 deficient mouse models for early and late chronotypes

Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism

Neuroadaptive effects of active versus passive drug administration in addiction research

Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy

Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

Circadian Time-Place Learning in Mice Depends on Cry Genes

Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing

Interval Timing Is Intact in Arrhythmic Cry1/Cry2-Deficient Mice

Long-Term Gene Expression in the Nucleus Accumbens Following Heroin Administration is Subregion-Specific and Depends on the Nature of Drug Administration

Morphine causes a delayed increase in glutamate receptor functioning in the nucleus accumbens core

Active heroin administration induces specific genomic responses in the nucleus accumbens shell

Is histamine the final neurotransmitter in the entrainment of circadian rhythms in mammals?

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

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

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing

The Effect of Mutations in the DRY Motif on the Constitutive Activity and Structural Instability of the Histamine H2Receptor

Using computers

Readers' Dialogue

Seasonal asthma in Melbourne, Australia, and some observations on the occurrence of thunderstorm asthma and its predictability

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