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Page 1
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB. Lampe AK, et al. Among authors: chu ml. J Med Genet. 2005 Feb;42(2):108-20. doi: 10.1136/jmg.2004.023754. J Med Genet. 2005. PMID: 15689448 Free PMC article.
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG. Lampe AK, et al. Among authors: chu ml. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704. Hum Mutat. 2008. PMID: 18366090
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kooi AJ, Bönnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G. Lucioli S, et al. Among authors: chu ml. Neurology. 2005 Jun 14;64(11):1931-7. doi: 10.1212/01.WNL.0000163990.00057.66. Neurology. 2005. PMID: 15955946
The respiratory microbiome is linked to the severity of RSV infections and the persistence of symptoms in children.
Kristensen M, de Steenhuijsen Piters WAA, Wildenbeest J, van Houten MA, Zuurbier RP, Hasrat R, Arp K, Chu MLJN, Billard M, Heikkinen T, Cunningham S, Snape M, Drysdale SB, Thwaites RS, Martinon-Torres F, Pollard AJ, Openshaw PJM, Aerssen J, Binkowska J, Bont L, Bogaert D; REspiratory Syncytial virus Consortium in EUrope (RESCEU) investigators. Kristensen M, et al. Among authors: chu mljn. Cell Rep Med. 2024 Dec 17;5(12):101836. doi: 10.1016/j.xcrm.2024.101836. Epub 2024 Dec 5. Cell Rep Med. 2024. PMID: 39642873 Free article.
Salivary polyreactive antibodies and Haemophilus influenzae are associated with respiratory infection severity in young children with recurrent respiratory infections.
Koenen MH, de Steenhuijsen Piters WAA, de Jonge MI, Langereis JD, Nierkens S, Chu MLJN, van der Woude R, de Vries RP, Sanders EAM, Bogaert D, van der Vries E, Boes M, Verhagen LM. Koenen MH, et al. Among authors: chu mljn. Eur Respir J. 2024 Oct 3;64(4):2400317. doi: 10.1183/13993003.00317-2024. Print 2024 Oct. Eur Respir J. 2024. PMID: 39117429 Free PMC article.
Host and environmental factors shape upper airway microbiota and respiratory health across the human lifespan.
Odendaal ML, de Steenhuijsen Piters WAA, Franz E, Chu MLJN, Groot JA, van Logchem EM, Hasrat R, Kuiling S, Pijnacker R, Mariman R, Trzciński K, van der Klis FRM, Sanders EAM, Smit LAM, Bogaert D, Bosch T. Odendaal ML, et al. Among authors: chu mljn. Cell. 2024 Aug 22;187(17):4571-4585.e15. doi: 10.1016/j.cell.2024.07.008. Epub 2024 Aug 1. Cell. 2024. PMID: 39094567 Free article.
Nasal cathelicidin is expressed in early life and is increased during mild, but not severe respiratory syncytial virus infection.
Sintoris S, Binkowska JM, Gillan JL, Zuurbier RP, Twynam-Perkins J, Kristensen M, Melrose L, Parga PL, Rodriguez AR, Chu ML, van Boeckel SR, Wildenbeest JG, Bowdish DME, Currie AJ, Thwaites RS, Schwarze J, van Houten MA, Boardman JP, Cunningham S, Bogaert D, Davidson DJ. Sintoris S, et al. Among authors: chu ml. Sci Rep. 2024 Jun 17;14(1):13928. doi: 10.1038/s41598-024-64446-1. Sci Rep. 2024. PMID: 38886476 Free PMC article.
567 results