W W M Pim Pijnappel

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 13

Top Topics

Molecular Dynamics Simulations

Replacement Therapy

Top Venues

European journal of neurology

European journal of human genetics : EJHG

Developmental medicine and child neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Benedikt Schoser, Nadine A M E van der Beek, Alexander Broomfield, Esther Brusse, Jordi Díaz-Manera, Andreas Hahn, Thomas Hundsberger, Cornelia Kornblum, Michelle Kruijshaar, Pascal Laforêt, Eugen Mengel, Tiziana Mongini, David Orlikowski, Giancarlo Parenti, W W M Pim Pijnappel, Mark Roberts, Thomas Scherer, Antonio Toscano, John Vissing, Johanna M P van den Hout, Pieter A van Doorn, Stephan Wenninger, Ans T van der Ploeg
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024. European journal of neurology (2024)
Benedikt Schoser, Nadine A M E van der Beek, Alexander Broomfield, Esther Brusse, Jordi Díaz-Manera, Andreas Hahn, Thomas Hundsberger, Cornelia Kornblum, Michelle Kruijshaar, Pascal Laforêt, Eugen Mengel, Tiziana Mongini, David Orlikowski, Giancarlo Parenti, W W M Pim Pijnappel, Mark Roberts, Thomas Scherer, Antonio Toscano, John Vissing, Johanna M P van den Hout, Pieter A van Doorn, Stephan Wenninger, Ans T van der Ploeg
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024. European journal of neurology 31 (9) (2024)
Benedikt Schoser, Nadine A M E van der Beek, Alexander Broomfield, Esther Brusse, Jordi Díaz-Manera, Andreas Hahn, Thomas Hundsberger, Cornelia Kornblum, Michelle Kruijshaar, Pascal Laforêt, Eugen Mengel, Tiziana Mongini, David Orlikowski, Giancarlo Parenti, W W M Pim Pijnappel, Mark Roberts, Thomas Scherer, Antonio Toscano, John Vissing, Johanna M P van den Hout, Pieter A van Doorn, Stephan Wenninger, Ans T van der Ploeg
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024. European journal of neurology 31 (9) (2024)
Benedikt Schoser, Nadine A M E van der Beek, Alexander Broomfield, Esther Brusse, Jordi Díaz-Manera, Andreas Hahn, Thomas Hundsberger, Cornelia Kornblum, Michelle Kruijshaar, Pascal Laforêt, Eugen Mengel, Tiziana Mongini, David Orlikowski, Giancarlo Parenti, W W M Pim Pijnappel, Mark Roberts, Thomas Scherer, Antonio Toscano, John Vissing, Johanna M P van den Hout, Pieter A van Doorn, Stephan Wenninger, Ans T van der Ploeg
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024. European journal of neurology 31 (9) (2024)
Monica Y Niño, Stijn L M In't Groen, Douglas O S de Faria, Marianne Hoogeveen-Westerveld, Hannerieke J M P van den Hout, Ans T van der Ploeg, Atze J Bergsma, W W M Pim Pijnappel
Broad variation in phenotypes for common GAA genotypes in Pompe disease. Human mutation 42 (11) (2021)
Douglas O S de Faria, Stijn L M In 't Groen, Marianne Hoogeveen-Westerveld, Monica Y Nino, Ans T van der Ploeg, Atze J Bergsma, W W M Pim Pijnappel
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening. Human mutation 42 (2) (2020)
Atze J Bergsma, Stijn L M In 't Groen, Fabio Catalano, Manjiro Yamanaka, Satoru Takahashi, Toshika Okumiya, Ans T van der Ploeg, W W M Pim Pijnappel
A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease. European journal of human genetics : EJHG 29 (3) (2020)
Monica Y Niño, Mark Wijgerde, Douglas Oliveira Soares de Faria, Marianne Hoogeveen-Westerveld, Atze J Bergsma, Mike Broeders, Nadine A M E van der Beek, Hannerieke J M van den Hout, Ans T van der Ploeg, Frans W Verheijen, W W M Pim Pijnappel
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience. European journal of human genetics : EJHG 29 (3) (2020)
Monica Y Niño, Stijn L M In 't Groen, Atze J Bergsma, Nadine A M E van der Beek, Marian Kroos, Marianne Hoogeveen-Westerveld, Ans T van der Ploeg, W W M Pim Pijnappel
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity. Human mutation 40 (11) (2019)
Gerben J Schaaf, Tom J M van Gestel, Stijn L M In 't Groen, Bart de Jong, Björn Boomaars, Antonietta Tarallo, Monica Cardone, Giancarlo Parenti, Ans T van der Ploeg, W W M Pim Pijnappel
Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease. Acta neuropathologica communications 6 (1) (2018)
Esther Kuperus, Jan C van der Meijden, Stijn L M In 't Groen, Marian A Kroos, Marianne Hoogeveen-Westerveld, Dimitris Rizopoulos, Monica Yasmin Nino Martinez, Michelle E Kruijshaar, Pieter A van Doorn, Nadine A M E van der Beek, Ans T van der Ploeg, W W M Pim Pijnappel
The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease. PloS one 13 (12) (2018)
Audrey A M Vollebregt, Marianne Hoogeveen-Westerveld, Marian A Kroos, Esmee Oussoren, Iris Plug, George J Ruijter, Ans T van der Ploeg, W W M Pim Pijnappel
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype. Developmental medicine and child neurology 59 (10) (2017)
Juna M de Vries, Esther Kuperus, Marianne Hoogeveen-Westerveld, Marian A Kroos, Stephan C A Wens, Merel Stok, Nadine A M E van der Beek, Michelle E Kruijshaar, Dimitris Rizopoulos, Pieter A van Doorn, Ans T van der Ploeg, W W M Pim Pijnappel
Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy. Genetics in medicine : official journal of the American College of Medical Genetics 19 (1) (2016)