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Journal of Proteomics|January 30, 2024
Lentiviral gene therapy with IGF2-tagged GAA normalizes the skeletal muscle proteome in murine Pompe diseaseQiushi Liang, Eva C Vlaar, Joon M Pijnenburg, et al.The Journal of Pediatrics|January 7, 2022
Outcome of Later-Onset Pompe Disease Identified Through Newborn ScreeningNi-Chung Lee, Kai-Ling Chang, Stijn L M In 't Groen, et al.Molecular and Cellular Biology|July 7, 2011
MICAL-1 is a negative regulator of MST-NDR kinase signaling and apoptosisYeping Zhou, Youri Adolfs, W W M Pim Pijnappel, et al.Acta Neuropathologica Communications|October 30, 2015
Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe diseaseGerben J Schaaf, Tom J M van Gestel, Esther Brusse, et al.Molecular Therapy. Methods & Clinical Development|October 26, 2022
IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapyQiushi Liang, Fabio Catalano, Eva C Vlaar, et al.Cell|September 22, 2007
Selective anchoring of TFIID to nucleosomes by trimethylation of histone H3 lysine 4Michiel Vermeulen, Klaas W Mulder, Sergei Denissov, et al.Human Mutation|June 30, 2019
Extension of the Pompe mutation database by linking disease-associated variants to clinical severityMonica Y Niño, Stijn L M In 't Groen, Atze J Bergsma, et al.The Journal of Pediatrics|February 12, 2018
High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement TherapyEsther Poelman, Marianne Hoogeveen-Westerveld, Marian A Kroos-de Haan, et al.Journal of Neurology|July 31, 2026
Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevanceJan J A van den Dorpel, Martha C Faraguna, Robert M Verdijk, et al.Acta Neuropathologica Communications|November 9, 2018
Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe diseaseGerben J Schaaf, Tom J M van Gestel, Stijn L M In 't Groen, et al.Pageof 7