Hasil Pencarian - W.W.M. Pim Pijnappel

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  1. 1
    An in vitro assay to quantify satellite cell activation using isolated mouse myofibers

    An in vitro assay to quantify satellite cell activation using isolated mouse myofibers oleh Rodrigo Canibano-Fraile, Emma Boertjes, Stela Bozhilova, W.W.M. Pim Pijnappel, Gerben J. Schaaf

    Diterbitkan 2021-06-01
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  2. 2
    Sharpening the Molecular Scissors: Advances in Gene-Editing Technology

    Sharpening the Molecular Scissors: Advances in Gene-Editing Technology oleh Mike Broeders, Pablo Herrero-Hernandez, Martijn P.T. Ernst, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

    Diterbitkan 2020-01-01
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  3. 3
    Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease

    Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease oleh Erik van der Wal, Atze J. Bergsma, Joon M. Pijnenburg, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

    Diterbitkan 2017-06-01
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  4. 4
    A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle

    A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle oleh Stijn L. M. in ‘t Groen, Marnix Franken, Theresa Bock, Marcus Krüger, Jessica C. de Greef, W. W. M. Pim Pijnappel

    Diterbitkan 2024-02-01
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  5. 5
    Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease

    Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease oleh Martijn P.T. Ernst, Mike Broeders, Pablo Herrero-Hernandez, Esmee Oussoren, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

    Diterbitkan 2020-09-01
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  6. 6
    A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI

    A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI oleh Mike Broeders, Kasper Smits, Busra Goynuk, Esmee Oussoren, Hannerieke J.M.P. van den Hout, Atze J. Bergsma, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

    Diterbitkan 2020-12-01
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  7. 7
    IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy

    IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy oleh Qiushi Liang, Fabio Catalano, Eva C. Vlaar, Joon M. Pijnenburg, Merel Stok, Yvette van Helsdingen, Arnold G. Vulto, Ans T. van der Ploeg, Niek P. van Til, W.W.M. Pim Pijnappel

    Diterbitkan 2022-12-01
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  8. 8
    Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

    Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease oleh 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

    Diterbitkan 2018-11-01
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  9. 9
    GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells

    GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells oleh Erik van der Wal, Atze J. Bergsma, Tom J.M. van Gestel, Stijn L.M. in ‘t Groen, Holm Zaehres, Marcos J. Araúzo-Bravo, Hans R. Schöler, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

    Diterbitkan 2017-06-01
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  10. 10
    Lentiviral gene therapy prevents anti-human acid α-glucosidase antibody formation in murine Pompe disease

    Lentiviral gene therapy prevents anti-human acid α-glucosidase antibody formation in murine Pompe disease oleh Qiushi Liang, Eva C. Vlaar, Fabio Catalano, Joon M. Pijnenburg, Merel Stok, Yvette van Helsdingen, Arnold G. Vulto, Wendy W.J. Unger, Ans T. van der Ploeg, W.W.M. Pim Pijnappel, Niek P. van Til

    Diterbitkan 2022-06-01
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  11. 11
    Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease

    Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease oleh Harmke A. van Kooten, Imke A. M. Ditters, Marianne Hoogeveen-Westerveld, Edwin H. Jacobs, Johanna M. P. van den Hout, Pieter A. van Doorn, W. W. M. Pim Pijnappel, Ans T. van der Ploeg, Nadine A. M. E. van der Beek

    Diterbitkan 2022-02-01
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  12. 12
    Epigenetic Characterization of the FMR1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation

    Epigenetic Characterization of the FMR1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation oleh Celine E.F. de Esch, Mehrnaz Ghazvini, Friedemann Loos, Nune Schelling-Kazaryan, W. Widagdo, Shashini T. Munshi, Erik van der Wal, Hannie Douben, Nilhan Gunhanlar, Steven A. Kushner, W.W.M. Pim Pijnappel, Femke M.S. de Vrij, Niels Geijsen, Joost Gribnau, Rob Willemsen

    Diterbitkan 2014-10-01
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  13. 13
    Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation

    Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation oleh Sheng Zhu, Anna Hing Yee Law, Ruixia Deng, Ellen Ngar Yun Poon, Chun Wai Lo, Anna Ka Yee Kwong, Rui Liang, Kelvin Yuen Kwong Chan, Wai Lap Wong, Kian Cheng Tan-Un, W.W.M. Pim Pijnappel, Godfrey Chi Fung Chan, Sophelia Hoi Shan Chan

    Diterbitkan 2020-12-01
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  14. 14
    The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.

    The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease. oleh 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

    Diterbitkan 2018-01-01
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  15. 15
    Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II

    Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II oleh Fabio Catalano, Eva C. Vlaar, Drosos Katsavelis, Zina Dammou, Tessa F. Huizer, Jeroen C. van den Bosch, Marianne Hoogeveen-Westerveld, Hannerieke J.M.P. van den Hout, Esmeralda Oussoren, George J.G. Ruijter, Gerben Schaaf, Karin Pike-Overzet, Frank J.T. Staal, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

    Diterbitkan 2023-12-01
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  16. 16
    A genetic modifier of symptom onset in Pompe diseaseResearch in context

    A genetic modifier of symptom onset in Pompe diseaseResearch in context oleh Atze J. Bergsma, Stijn L.M. in 't Groen, Jan J.A. van den Dorpel, Hannerieke J.M.P. van den Hout, Nadine A.M.E. van der Beek, Benedikt Schoser, Antonio Toscano, Olimpia Musumeci, Bruno Bembi, Andrea Dardis, Amelia Morrone, Albina Tummolo, Elisabetta Pasquini, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

    Diterbitkan 2019-05-01
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  17. 17
    Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

    Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis oleh Stijn L.M. in ’t Groen, Douglas O.S. de Faria, Alessandro Iuliano, Johanna M.P. van den Hout, Hannie Douben, Trijnie Dijkhuizen, David Cassiman, Peter Witters, Miguel-Ángel Barba Romero, Annelies de Klein, Galhana M. Somers-Bolman, Jasper J. Saris, Lies H. Hoefsloot, Ans T. van der Ploeg, Atze J. Bergsma, W.W.M. Pim Pijnappel

    Diterbitkan 2020-06-01
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