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Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network; Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Tezenas du Montcel S, et al. Among authors: figueroa kp. Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26. Brain. 2014. PMID: 24972706 Free PMC article.
Population-based risks for cancer in patients with ALS.
Gibson SB, Abbott D, Farnham JM, Thai KK, McLean H, Figueroa KP, Bromberg MB, Pulst SM, Cannon-Albright L. Gibson SB, et al. Among authors: figueroa kp. Neurology. 2016 Jul 19;87(3):289-94. doi: 10.1212/WNL.0000000000002757. Epub 2016 May 11. Neurology. 2016. PMID: 27170569 Free PMC article.
The evolving genetic risk for sporadic ALS.
Gibson SB, Downie JM, Tsetsou S, Feusier JE, Figueroa KP, Bromberg MB, Jorde LB, Pulst SM. Gibson SB, et al. Among authors: figueroa kp. Neurology. 2017 Jul 18;89(3):226-233. doi: 10.1212/WNL.0000000000004109. Epub 2017 Jun 22. Neurology. 2017. PMID: 28642336 Free PMC article.
Pathogenic Effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis.
Russell KL, Downie JM, Gibson SB, Tsetsou S, Keefe MD, Duran JA, Figueroa KP, Bromberg MB, Murtaugh LC, Bonkowsky JL, Pulst SM, Jorde LB. Russell KL, et al. Among authors: figueroa kp. Neurology. 2021 Jul 19;97(3):e225-e235. doi: 10.1212/WNL.0000000000012285. Neurology. 2021. PMID: 34135078 Free PMC article.
Ataxin-2 regulates RGS8 translation in a new BAC-SCA2 transgenic mouse model.
Dansithong W, Paul S, Figueroa KP, Rinehart MD, Wiest S, Pflieger LT, Scoles DR, Pulst SM. Dansithong W, et al. Among authors: figueroa kp. PLoS Genet. 2015 Apr 22;11(4):e1005182. doi: 10.1371/journal.pgen.1005182. eCollection 2015 Apr. PLoS Genet. 2015. PMID: 25902068 Free PMC article.
Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia.
Figueroa KP, Paul S, Calì T, Lopreiato R, Karan S, Frizzarin M, Ames D, Zanni G, Brini M, Dansithong W, Milash B, Scoles DR, Carafoli E, Pulst SM. Figueroa KP, et al. Dis Model Mech. 2016 May 1;9(5):553-62. doi: 10.1242/dmm.022848. Epub 2016 Mar 24. Dis Model Mech. 2016. PMID: 27013529 Free PMC article.
69 results