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Strenuous exercise aggravates MDMA-induced skeletal muscle damage in mice.
Duarte JA, Leão A, Magalhães J, Ascensão A, Bastos ML, Amado FL, Vilarinho L, Quelhas D, Appell HJ, Carvalho F. Duarte JA, et al. Among authors: vilarinho l. Toxicology. 2005 Jan 31;206(3):349-58. doi: 10.1016/j.tox.2004.07.012. Toxicology. 2005. PMID: 15588925
De Barsy syndrome and ATP6V0A2-CDG.
Leao-Teles E, Quelhas D, Vilarinho L, Jaeken J. Leao-Teles E, et al. Among authors: vilarinho l. Eur J Hum Genet. 2010 May;18(5):526; author reply 526. doi: 10.1038/ejhg.2009.218. Epub 2009 Dec 16. Eur J Hum Genet. 2010. PMID: 20010974 Free PMC article. No abstract available.
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.
Encarnação M, Coutinho MF, Cho SM, Cardoso MT, Ribeiro I, Chaves P, Santos JI, Quelhas D, Lacerda L, Leão Teles E, Futerman AH, Vilarinho L, Alves S. Encarnação M, et al. Among authors: vilarinho l. Mol Genet Genomic Med. 2020 Nov;8(11):e1451. doi: 10.1002/mgg3.1451. Epub 2020 Sep 15. Mol Genet Genomic Med. 2020. PMID: 32931663 Free PMC article.
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis.
Butler M, Quelhas D, Critchley AJ, Carchon H, Hebestreit HF, Hibbert RG, Vilarinho L, Teles E, Matthijs G, Schollen E, Argibay P, Harvey DJ, Dwek RA, Jaeken J, Rudd PM. Butler M, et al. Among authors: vilarinho l. Glycobiology. 2003 Sep;13(9):601-22. doi: 10.1093/glycob/cwg079. Epub 2003 May 28. Glycobiology. 2003. PMID: 12773475
176 results