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Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data.
Khan NL, Jain S, Lynch JM, Pavese N, Abou-Sleiman P, Holton JL, Healy DG, Gilks WP, Sweeney MG, Ganguly M, Gibbons V, Gandhi S, Vaughan J, Eunson LH, Katzenschlager R, Gayton J, Lennox G, Revesz T, Nicholl D, Bhatia KP, Quinn N, Brooks D, Lees AJ, Davis MB, Piccini P, Singleton AB, Wood NW. Khan NL, et al. Among authors: lynch jm. Brain. 2005 Dec;128(Pt 12):2786-96. doi: 10.1093/brain/awh667. Epub 2005 Nov 4. Brain. 2005. PMID: 16272164
A common LRRK2 mutation in idiopathic Parkinson's disease.
Gilks WP, Abou-Sleiman PM, Gandhi S, Jain S, Singleton A, Lees AJ, Shaw K, Bhatia KP, Bonifati V, Quinn NP, Lynch J, Healy DG, Holton JL, Revesz T, Wood NW. Gilks WP, et al. Lancet. 2005 Jan 29-Feb 4;365(9457):415-6. doi: 10.1016/S0140-6736(05)17830-1. Lancet. 2005. PMID: 15680457
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.
Cavalleri GL, Weale ME, Shianna KV, Singh R, Lynch JM, Grinton B, Szoeke C, Murphy K, Kinirons P, O'Rourke D, Ge D, Depondt C, Claeys KG, Pandolfo M, Gumbs C, Walley N, McNamara J, Mulley JC, Linney KN, Sheffield LJ, Radtke RA, Tate SK, Chissoe SL, Gibson RA, Hosford D, Stanton A, Graves TD, Hanna MG, Eriksson K, Kantanen AM, Kalviainen R, O'Brien TJ, Sander JW, Duncan JS, Scheffer IE, Berkovic SF, Wood NW, Doherty CP, Delanty N, Sisodiya SM, Goldstein DB. Cavalleri GL, et al. Among authors: lynch jm. Lancet Neurol. 2007 Nov;6(11):970-80. doi: 10.1016/S1474-4422(07)70247-8. Lancet Neurol. 2007. PMID: 17913586
A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy.
Cavalleri GL, Walley NM, Soranzo N, Mulley J, Doherty CP, Kapoor A, Depondt C, Lynch JM, Scheffer IE, Heils A, Gehrmann A, Kinirons P, Gandhi S, Satishchandra P, Wood NW, Anand A, Sander T, Berkovic SF, Delanty N, Goldstein DB, Sisodiya SM. Cavalleri GL, et al. Among authors: lynch jm. Epilepsia. 2007 Apr;48(4):706-12. doi: 10.1111/j.1528-1167.2007.00977.x. Epilepsia. 2007. PMID: 17437413 Free article.
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.
Benson KA, White M, Allen NM, Byrne S, Carton R, Comerford E, Costello D, Doherty C, Dunleavey B, El-Naggar H, Gangadharan N, Heavin S, Kearney H, Lench NJ, Lynch J, McCormack M, Regan MO, Podesta K, Power K, Rogers AS, Steward CA, Sweeney B, Webb D, Fitzsimons M, Greally M, Delanty N, Cavalleri GL. Benson KA, et al. Eur J Hum Genet. 2020 Aug;28(8):1066-1077. doi: 10.1038/s41431-020-0610-3. Epub 2020 Apr 1. Eur J Hum Genet. 2020. PMID: 32238909 Free PMC article.
295 results