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Severe toxicity of capecitabine in a patient with DPD deficiency after a safe FEC-100 experience: why we should test DPD deficiency in all patients before high-dose fluoropyrimidines.
Maillard M, Eche-Gass A, Ung M, Brice A, Marsili S, Montastruc M, Puisset F, Thomas F. Maillard M, et al. Among authors: brice a. Cancer Chemother Pharmacol. 2021 Apr;87(4):579-583. doi: 10.1007/s00280-021-04233-1. Epub 2021 Feb 15. Cancer Chemother Pharmacol. 2021. PMID: 33587160
Impact of hemolysis on uracilemia in the context of dihydropyrimidine dehydrogenase deficiency testing.
Loison G, Bouges Le Royer H, Marsili S, Brice A, Vintejoux J, Yakoubi M, Sirgue H, Chatelut E, Etienne-Grimaldi MC, Thomas F; on behalf of the GPCO-UNICANCER group. Loison G, et al. Among authors: brice a. Clin Chem Lab Med. 2024 Jan 11;62(6):e129-e131. doi: 10.1515/cclm-2023-1096. Print 2024 May 27. Clin Chem Lab Med. 2024. PMID: 38198224 Free article. No abstract available.
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease.
Cogan G, Daida K, Billingsley KJ, Tesson C, Forlani S, Jornea L, Arnaud L, Tissier L, LeGuern E, Singleton AB, Ferrien M, Gervais Bernard H, Lesage S, Blauwendraat C, Brice A. Cogan G, et al. Among authors: brice a. medRxiv [Preprint]. 2024 May 3:2024.05.02.24306523. doi: 10.1101/2024.05.02.24306523. medRxiv. 2024. PMID: 38746197 Free PMC article. Preprint.
Genetic variation and pesticide exposure influence blood DNA methylation signatures in females with early-stage Parkinson's disease.
Schaffner SL, Casazza W, Artaud F, Konwar C, Merrill SM, Domenighetti C, Schulze-Hentrich JM, Lesage S, Brice A, Corvol JC, Mostafavi S, Dennis JK, Elbaz A, Kobor MS; DIGPD Study Group. Schaffner SL, et al. Among authors: brice a. NPJ Parkinsons Dis. 2024 May 7;10(1):98. doi: 10.1038/s41531-024-00704-3. NPJ Parkinsons Dis. 2024. PMID: 38714693 Free PMC article.
CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Kacher R, Lejeune FX, David I, Boluda S, Coarelli G, Leclere-Turbant S, Heinzmann A, Marelli C, Charles P, Goizet C, Kabir N, Hilab R, Jornea L, Six J, Dommergues M, Fauret AL, Brice A, Humbert S, Durr A. Kacher R, et al. Among authors: brice a. Am J Hum Genet. 2024 May 2;111(5):913-926. doi: 10.1016/j.ajhg.2024.03.015. Epub 2024 Apr 15. Am J Hum Genet. 2024. PMID: 38626762 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.
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia.
Samra K, Peakman G, MacDougall AM, Bouzigues A, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Ber IL, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL;  Genetic FTD Initiative (GENFI). Samra K, et al. Alzheimers Dement (Amst). 2024 Apr 14;16(2):e12571. doi: 10.1002/dad2.12571. eCollection 2024 Apr-Jun. Alzheimers Dement (Amst). 2024. PMID: 38623386 Free PMC article.
1,076 results