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Publicaties Ziekte van Pompe

195 resultaten

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

van der Wal E, Bergsma AJ, Pijnenburg JM, van der Ploeg AT, Pijnappel WWMP

Molecular therapy. Nucleic acids, 2017 06 16

doi: 10.1016/j.omtn.2017.03.001

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells.

van der Wal E, Bergsma AJ, van Gestel TJM, In 't Groen SLM, Zaehres H, Araúzo-Bravo MJ, Schöler HR, van der Ploeg AT, Pijnappel WWMP

Molecular therapy. Nucleic acids, 2017 Jun 16

doi: 10.1016/j.omtn.2017.03.002

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B,

European journal of neurology, 2017 06

doi: 10.1111/ene.13285

Commentary.

Pijnappel WW, van Doorn PA, van der Ploeg AT

Clinical chemistry, 2017 01

doi: 10.1373/clinchem.2016.265280

Quality of Life and Participation in the Daily Life (Activities) of Adults with Pompe Disease Receiving Enzyme Replacement Therapy: 10 Years of International Follow-Up.

Güngör D, Kruijshaar ME, Plug I, Rizopoulos D, Kanters TA, Wens SC, Reuser AJ, van Doorn PA, van der Ploeg AT

Journal of neuromuscular diseases

NCBI: 27858652

Cine-MRI as a New Tool to Evaluate Diaphragmatic Dysfunction in Pompe Disease.

Wens SC, Ciet P, Perez-Rovira A, Logie K, Salamon E, Wielopolski P, de Bruijne M, Kruijshaar ME, Tiddens HW, van der Beek NA, van Doorn PA, van der Ploeg AT

Journal of neuromuscular diseases

NCBI: 27858648

Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach.

Bergsma AJ, Kroos M, Hoogeveen-Westerveld M, Halley D, van der Ploeg AT, Pim Pijnappel WW

Journal of neuromuscular diseases

NCBI: 27858633

Ten Years of the International Pompe Survey: Patient-Reported Outcomes as a Reliable Tool for Studying Treated and Untreated Children and Adults with Non-Classic Pompe Disease.

van der Meijden JC, Güngör D, Kruijshaar ME, Muir AD, Broekgaarden HA, van der Ploeg AT

Journal of neuromuscular diseases

NCBI: 27858630

From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides.

Bergsma AJ, In 't Groen SL, Verheijen FW, van der Ploeg AT, Pijnappel WWMP

Molecular therapy. Nucleic acids, 2016 09 13

doi: 10.1038/mtna.2016.75

Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI.

Mogalle K, Perez-Rovira A, Ciet P, Wens SC, van Doorn PA, Tiddens HA, van der Ploeg AT, de Bruijne M

PloS one, 2016

doi: 10.1371/journal.pone.0158912

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.

de Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SC, Stok M, van der Beek NA, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Pijnappel WW

Genetics in medicine : official journal of the American College of Medical Genetics, 2017 01

doi: 10.1038/gim.2016.70

Minutes of the European POmpe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, Germany.

Schoser B, Laforêt P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT,

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2015 Dec

NCBI: 27199543