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CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.
Nag A, Bochukova EG, Kremeyer B, Campbell DD, Muller H, Valencia-Duarte AV, Cardona J, Rivas IC, Mesa SC, Cuartas M, Garcia J, Bedoya G, Cornejo W, Herrera LD, Romero R, Fournier E, Reus VI, Lowe TL, Farooqi IS; Tourette Syndrome Association International Consortium for Genetics; Mathews CA, McGrath LM, Yu D, Cook E, Wang K, Scharf JM, Pauls DL, Freimer NB, Plagnol V, Ruiz-Linares A. Nag A, et al. Among authors: cornejo w. PLoS One. 2013;8(3):e59061. doi: 10.1371/journal.pone.0059061. Epub 2013 Mar 22. PLoS One. 2013. PMID: 23533600 Free PMC article.
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
Pineda-Trujillo N, Cornejo W, Carrizosa J, Wheeler RB, Múnera S, Valencia A, Agudelo-Arango J, Cogollo A, Anderson G, Bedoya G, Mole SE, Ruíz-Linares A. Pineda-Trujillo N, et al. Among authors: cornejo w. Neurology. 2005 Feb 22;64(4):740-2. doi: 10.1212/01.WNL.0000151974.44980.F1. Neurology. 2005. PMID: 15728307
19 results