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Page 1
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C. Piard J, et al. Among authors: gauthier s. Clin Genet. 2015 Mar;87(3):244-51. doi: 10.1111/cge.12361. Epub 2014 Mar 26. Clin Genet. 2015. PMID: 24635570
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor MC, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron AL, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L. Callier P, et al. Among authors: gauthier s. Clin Genet. 2013 Dec;84(6):507-21. doi: 10.1111/cge.12094. Epub 2013 Mar 18. Clin Genet. 2013. PMID: 23506379 Free article.
Dominantly Inherited Alzheimer Network Trials Unit (DIAN-TU): Trial Satisfaction and Attitudes towards Future Clinical Trials.
Liu H, Li J, Ziegemeier E, Adams S, McDade E, Clifford DB, Cao Y, Wang G, Li Y, Mills SL, Santacruz AM, Belyew S, Grill JD, Snider BJ, Mummery CJ, Surti G, Hannequin D, Wallon D, Berman SB, Jimenez-Velazquez IZ, Roberson ED, van Dyck CH, Honig LS, Sanchez-Valle R, Brooks WS, Gauthier S, Galasko D, Masters CL, Brosch J, Hsiung GR, Jayadev S, Formaglio M, Masellis M, Clarnette R, Pariente J, Dubois B, Pasquier F, Bateman RJ, Llibre-Guerra JJ. Liu H, et al. Among authors: gauthier s. J Prev Alzheimers Dis. 2024;11(3):558-566. doi: 10.14283/jpad.2024.61. J Prev Alzheimers Dis. 2024. PMID: 38706272
Downstream Biomarker Effects of Gantenerumab or Solanezumab in Dominantly Inherited Alzheimer Disease: The DIAN-TU-001 Randomized Clinical Trial.
Wagemann O, Liu H, Wang G, Shi X, Bittner T, Scelsi MA, Farlow MR, Clifford DB, Supnet-Bell C, Santacruz AM, Aschenbrenner AJ, Hassenstab JJ, Benzinger TLS, Gordon BA, Coalier KA, Cruchaga C, Ibanez L, Perrin RJ, Xiong C, Li Y, Morris JC, Lah JJ, Berman SB, Roberson ED, van Dyck CH, Galasko D, Gauthier S, Hsiung GR, Brooks WS, Pariente J, Mummery CJ, Day GS, Ringman JM, Mendez PC, St George-Hyslop P, Fox NC, Suzuki K, Okhravi HR, Chhatwal J, Levin J, Jucker M, Sims JR, Holdridge KC, Proctor NK, Yaari R, Andersen SW, Mancini M, Llibre-Guerra J, Bateman RJ, McDade E; Dominantly Inherited Alzheimer Network–Trials Unit. Wagemann O, et al. Among authors: gauthier s. JAMA Neurol. 2024 Apr 29:e240991. doi: 10.1001/jamaneurol.2024.0991. Online ahead of print. JAMA Neurol. 2024. PMID: 38683602 Free PMC article.
Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results.
Pasternak M, Mirza SS, Luciw N, Mutsaerts HJMM, Petr J, Thomas D, Cash D, Bocchetta M, Tartaglia MC, Mitchell SB, Black SE, Freedman M, Tang-Wai D, Rogaeva E, Russell LL, Bouzigues A, van Swieten JC, Jiskoot LC, Seelaar H, Laforce R Jr, Tiraboschi P, Borroni B, Galimberti D, Rowe JB, Graff C, Finger E, Sorbi S, de Mendonça A, Butler C, Gerhard A, Sanchez-Valle R, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Levin J, Otto M, Santana I, Strafella AP, MacIntosh BJ, Rohrer JD, Masellis M; GENetic Frontotemporal dementia Initiative (GENFI). Pasternak M, et al. Alzheimers Dement. 2024 May;20(5):3525-3542. doi: 10.1002/alz.13750. Epub 2024 Apr 16. Alzheimers Dement. 2024. PMID: 38623902 Free PMC article. Italian.
1,102 results