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Joon M. Pijnenburg
Joon M. Pijnenburg
Erasmus University Rotterdam
Skeletal muscle
Exon
Biology
Internal medicine
RNA splicing
4
Papers
73
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GAA deficiency in Pompe disease is alleviated by exon inclusion in iPS cell-derived skeletal muscle cells
2017
Molecular Genetics and Metabolism
Atze J. Bergsma
Erik van der Wal
Joon M. Pijnenburg
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
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Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease
2017
Molecular therapy. Nucleic acids
Erik van der Wal
Atze J. Bergsma
Joon M. Pijnenburg
Ans T. van der Ploeg
W.W.M. Pim Pijnappel
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Citations (29)
P.218 - Antisense oligonucleotides promote exon inclusion and correct the common c.-32-13T > G (IVS1) GAA splicing variant in iPS-derived skeletal muscle cells from Pompe patients
2017
Neuromuscular Disorders
W. Pijnappel
E. van der Wal
Atze Jacobus Bergsma
T. Van Gestel
Joon M. Pijnenburg
S. in ‘t Groen
Holm Zaehres
Marcos J. Araúzo-Bravo
Hans R. Schöler
A.T. van der Ploeg
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Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease
2016
Circulation-cardiovascular Genetics
Stephan C.A. Wens
Gerben J. Schaaf
Michelle Michels
Michelle E. Kruijshaar
Tom J.M. van Gestel
Stijn L.M. in 't Groen
Joon M. Pijnenburg
Dick H. W. Dekkers
Jeroen Demmers
Lex B. Verdijk
Esther Brusse
Ron H.N. van Schaik
Ans T. van der Ploeg
Pieter A. van Doorn
W.W.M. Pim Pijnappel
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Citations (43)
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