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Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P. Herdewyn S, et al. Among authors: race v. Hum Mol Genet. 2012 Jun 1;21(11):2412-9. doi: 10.1093/hmg/dds055. Epub 2012 Feb 17. Hum Mol Genet. 2012. PMID: 22343411 Free PMC article.
TDP-43 M311V mutation in familial amyotrophic lateral sclerosis.
Lemmens R, Race V, Hersmus N, Matthijs G, Van Den Bosch L, Van Damme P, Dubois B, Boonen S, Goris A, Robberecht W. Lemmens R, et al. Among authors: race v. J Neurol Neurosurg Psychiatry. 2009 Mar;80(3):354-5. doi: 10.1136/jnnp.2008.157677. J Neurol Neurosurg Psychiatry. 2009. PMID: 19228676 No abstract available.
TMEM165 deficiency causes a congenital disorder of glycosylation.
Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G. Foulquier F, et al. Among authors: race v. Am J Hum Genet. 2012 Jul 13;91(1):15-26. doi: 10.1016/j.ajhg.2012.05.002. Epub 2012 Jun 7. Am J Hum Genet. 2012. PMID: 22683087 Free PMC article.
COG5-CDG: expanding the clinical spectrum.
Rymen D, Keldermans L, Race V, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Sturiale L, Rosnoblet C, Foulquier F, Matthijs G, Jaeken J. Rymen D, et al. Among authors: race v. Orphanet J Rare Dis. 2012 Dec 10;7:94. doi: 10.1186/1750-1172-7-94. Orphanet J Rare Dis. 2012. PMID: 23228021 Free PMC article.
55 results