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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Among authors: meitinger t. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Müller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T. Zimprich A, et al. Among authors: meitinger t. Neuron. 2004 Nov 18;44(4):601-7. doi: 10.1016/j.neuron.2004.11.005. Neuron. 2004. PMID: 15541309 Free article.
Cohen syndrome diagnosis using whole genome arrays.
Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M. Rivera-Brugués N, et al. Among authors: meitinger t. J Med Genet. 2011 Feb;48(2):136-40. doi: 10.1136/jmg.2010.082206. Epub 2010 Oct 4. J Med Genet. 2011. PMID: 20921020
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
Oexle K, Ried JS, Hicks AA, Tanaka T, Hayward C, Bruegel M, Gögele M, Lichtner P, Müller-Myhsok B, Döring A, Illig T, Schwienbacher C, Minelli C, Pichler I, Fiedler GM, Thiery J, Rudan I, Wright AF, Campbell H, Ferrucci L, Bandinelli S, Pramstaller PP, Wichmann HE, Gieger C, Winkelmann J, Meitinger T. Oexle K, et al. Among authors: meitinger t. Hum Mol Genet. 2011 Mar 1;20(5):1042-7. doi: 10.1093/hmg/ddq538. Epub 2010 Dec 10. Hum Mol Genet. 2011. PMID: 21149283 Free PMC article.
A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals.
Nebel A, Kleindorp R, Caliebe A, Nothnagel M, Blanché H, Junge O, Wittig M, Ellinghaus D, Flachsbart F, Wichmann HE, Meitinger T, Nikolaus S, Franke A, Krawczak M, Lathrop M, Schreiber S. Nebel A, et al. Among authors: meitinger t. Mech Ageing Dev. 2011 Jun-Jul;132(6-7):324-30. doi: 10.1016/j.mad.2011.06.008. Epub 2011 Jun 29. Mech Ageing Dev. 2011. PMID: 21740922 Clinical Trial.
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
Haack TB, Makowski C, Yao Y, Graf E, Hempel M, Wieland T, Tauer U, Ahting U, Mayr JA, Freisinger P, Yoshimatsu H, Inui K, Strom TM, Meitinger T, Yonezawa A, Prokisch H. Haack TB, et al. Among authors: meitinger t. J Inherit Metab Dis. 2012 Nov;35(6):943-8. doi: 10.1007/s10545-012-9513-y. Epub 2012 Aug 3. J Inherit Metab Dis. 2012. PMID: 22864630 Free PMC article.
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
Danhauser K, Sauer SW, Haack TB, Wieland T, Staufner C, Graf E, Zschocke J, Strom TM, Traub T, Okun JG, Meitinger T, Hoffmann GF, Prokisch H, Kölker S. Danhauser K, et al. Among authors: meitinger t. Am J Hum Genet. 2012 Dec 7;91(6):1082-7. doi: 10.1016/j.ajhg.2012.10.006. Epub 2012 Nov 8. Am J Hum Genet. 2012. PMID: 23141293 Free PMC article.
707 results