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Page 1
Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease.
Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Mariotti C, Lange HW, Weirich-Schwaiger H, Wenning GK, Seppi K, Melegh B, Havasi V, Balikó L, Wieczorek S, Zaremba J, Hoffman-Zacharska D, Sulek A, Basak AN, Soydan E, Zidovska J, Kebrdlova V, Pandolfo M, Ribaï P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O. Metzger S, et al. Among authors: basak an. Hum Genet. 2006 Sep;120(2):285-92. doi: 10.1007/s00439-006-0221-2. Epub 2006 Jul 18. Hum Genet. 2006. PMID: 16847693
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease.
Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Soliveri P, Lange HW, Weirich-Schwaiger H, Wenning GK, Melegh B, Havasi V, Balikó L, Wieczorek S, Arning L, Zaremba J, Sulek A, Hoffman-Zacharska D, Basak AN, Ersoy N, Zidovska J, Kebrdlova V, Pandolfo M, Ribaï P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O. Metzger S, et al. Among authors: basak an. Neurogenetics. 2006 Mar;7(1):27-30. doi: 10.1007/s10048-005-0023-z. Epub 2005 Dec 21. Neurogenetics. 2006. PMID: 16369839
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.
Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, Pirkevi C, Hamadouche T, Cazeneuve C, Basak AN, Hattori N, Dürr A, Tazir M, Orr-Urtreger A, Quintana-Murci L, Brice A; French Parkinson's Disease Genetics Study Group. Lesage S, et al. Among authors: basak an. Hum Mol Genet. 2010 May 15;19(10):1998-2004. doi: 10.1093/hmg/ddq081. Epub 2010 Mar 2. Hum Mol Genet. 2010. PMID: 20197411
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: basak an. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease.
Lahut S, Gispert S, Ömür Ö, Depboylu C, Seidel K, Domínguez-Bautista JA, Brehm N, Tireli H, Hackmann K, Pirkevi C, Leube B, Ries V, Reim K, Brose N, den Dunnen WF, Johnson M, Wolf Z, Schindewolf M, Schrempf W, Reetz K, Young P, Vadasz D, Frangakis AS, Schröck E, Steinmetz H, Jendrach M, Rüb U, Başak AN, Oertel W, Auburger G. Lahut S, et al. Among authors: basak an. Dis Model Mech. 2017 May 1;10(5):619-631. doi: 10.1242/dmm.028035. Epub 2017 Jan 20. Dis Model Mech. 2017. PMID: 28108469 Free PMC article.
140 results