Publications by authors named "Edwin Jacobs"

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Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements.
Ina Barzel, Jan-Dietert C Brugma, Edwin H Jacobs, Marianne Hoogeveen-Westerveld, P Hugo M van der Kuy

Eur J Hosp Pharm· December 2025

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Biallelic Variant in LYSET Associated With Mucolipidosis II-Like Phenotype.
Ariana Kariminejad, Farzaneh Pouya, Fatemeh Ahangari, Saeed Talebi, Fariba Afroozan, Edwin H Jacobs

Am J Med Genet A· August 2025

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variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Anna Malekkou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Carolina Sismani, Edwin H Jacobs

Mol Genet Metab Rep· September 2023

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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Edwin H Jacobs

Acta Neuropathol· August 2023

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Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Marne C Hagemeijer, Jeroen C van den Bosch, Michiel Bongaerts, Edwin H Jacobs, Johanna M P van den Hout

J Inherit Metab Dis· March 2023

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Distinct features in adult polyglucosan body disease: a case series.
Jonathan De Winter, Gert Cypers, Edwin Jacobs, Stephanie Vanden Bossche, Tine Deconinck

Neuromuscul Disord· February 2023

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Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy.
Shanice Beerepoot, Hans Heijst, Birthe Roos, Mirjam M C Wamelink, Jaap Jan Boelens, Edwin H Jacobs

Brain· March 2022

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Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.
Harmke A van Kooten, Imke A M Ditters, Marianne Hoogeveen-Westerveld, Edwin H Jacobs, Johanna M P van den Hout

Orphanet J Rare Dis· February 2022

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Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism.
Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Edwin H Jacobs, Esmee Oussoren

Metabolites· December 2020

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Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
Shanice Beerepoot, Silvy J M van Dooren, Gajja S Salomons, Jaap Jan Boelens, Edwin H Jacobs

Neurogenetics· October 2020

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Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease.
Merel Stok, Helen de Boer, Marshall W Huston, Edwin H Jacobs, Onno Roovers

Mol Ther Methods Clin Dev· June 2020

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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.
Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M Berdowski, Maysoon Alsagob, Edwin H Jacobs

Acta Neuropathol· March 2020

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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.
Ramon Bonte, Michiel Bongaerts, Serwet Demirdas, Janneke G Langendonk, Hidde H Huidekoper, Edwin H Jacobs

Metabolites· November 2019

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Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.
Rana Yadak, Raquel Cabrera-Pérez, Javier Torres-Torronteras, Marianna Bugiani, Joost C Haeck, Edwin H Jacobs

Mol Ther Methods Clin Dev· March 2018

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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.
Eugin Destici, Edwin H Jacobs, Filippo Tamanini, Maarten Loos, Gijsbertus T J van der Horst

PLoS One· September 2014

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Interval timing is intact in arrhythmic Cry1/Cry2-deficient mice.
Efstathios B Papachristos, Edwin H Jacobs, Ype Elgersma

J Biol Rhythms· August 2011

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Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype.
Niek P van Til, Merel Stok, Fatima S F Aerts Kaya, Monique C de Waard, Elnaz Farahbakhshian, Edwin H Jacobs

Blood· July 2010

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Circadian time-place learning in mice depends on Cry genes.
Eddy A Van der Zee, Robbert Havekes, R Paulien Barf, Roelof A Hut, Ingrid M Nijholt, Edwin H Jacobs

Curr Biol· June 2008

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Morphine causes a delayed increase in glutamate receptor functioning in the nucleus accumbens core.
Edwin H Jacobs, George Wardeh, August B Smit, Anton N M Schoffelmeer

Eur J Pharmacol· March 2005

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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.
Edwin H Jacobs, August B Smit, Taco J de Vries, Anton N M Schoffelmeer

Addict Biol· March 2005

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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.
Edwin H Jacobs, Taco J de Vries, August B Smit, Anton N M Schoffelmeer

FASEB J· January 2004

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Neuroadaptive effects of active versus passive drug administration in addiction research.
Edwin H Jacobs, August B Smit, Taco J de Vries, Anton N M Schoffelmeer

Trends Pharmacol Sci· November 2003

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Active heroin administration induces specific genomic responses in the nucleus accumbens shell.
Edwin H Jacobs, Sabine Spijker, Clarine W Verhoog, Konny Kamprath, Taco J de Vries

FASEB J· December 2002

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Testicular Cancer: Risk Factors and the Role of Adjuvant Chemotherapy.
Edwin M Jacobs, Franco M Muggia

Cancer· April 1980

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Choriocarcinoma.
Edwin M. Jacobs

Calif Med· March 1969

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