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Page 1
Midbrain organoids with an SNCA gene triplication model key features of synucleinopathy.
Mohamed NV, Sirois J, Ramamurthy J, Mathur M, Lépine P, Deneault E, Maussion G, Nicouleau M, Chen CX, Abdian N, Soubannier V, Cai E, Nami H, Thomas RA, Wen D, Tabatabaei M, Beitel LK, Singh Dolt K, Karamchandani J, Stratton JA, Kunath T, Fon EA, Durcan TM. Mohamed NV, et al. Among authors: nicouleau m. Brain Commun. 2021 Sep 25;3(4):fcab223. doi: 10.1093/braincomms/fcab223. eCollection 2021. Brain Commun. 2021. PMID: 34632384 Free PMC article.
Identification of amyloid beta in small extracellular vesicles via Raman spectroscopy.
Imanbekova M, Suarasan S, Rojalin T, Mizenko RR, Hilt S, Mathur M, Lepine P, Nicouleau M, Mohamed NV, Durcan TM, Carney RP, Voss JC, Wachsmann-Hogiu S. Imanbekova M, et al. Among authors: nicouleau m. Nanoscale Adv. 2021 Jun 7;3(14):4119-4132. doi: 10.1039/d1na00330e. eCollection 2021 Jul 13. Nanoscale Adv. 2021. PMID: 34355118 Free PMC article.
Generation of patient-derived pluripotent stem cell-lines and CRISPR modified isogenic controls with mutations in the Parkinson's associated GBA gene.
X-Q Chen C, Deneault E, Abdian N, You Z, Sirois J, Nicouleau M, Shlaifer I, Villegas L, Boivin MN, Gaborieau L, Karamchandani J, Beitel LK, Fon EA, Durcan TM. X-Q Chen C, et al. Among authors: nicouleau m. Stem Cell Res. 2022 Oct;64:102919. doi: 10.1016/j.scr.2022.102919. Epub 2022 Sep 15. Stem Cell Res. 2022. PMID: 36130446 Free article.
Transcriptional Dysregulation and Impaired Neuronal Activity in FMR1 Knock-Out and Fragile X Patients' iPSC-Derived Models.
Maussion G, Rocha C, Abdian N, Yang D, Turk J, Carrillo Valenzuela D, Pimentel L, You Z, Morquette B, Nicouleau M, Deneault E, Higgins S, Chen CX, Reintsch WE, Ho S, Soubannier V, Lépine S, Modrusan Z, Lund J, Stephenson W, Schubert R, Durcan TM. Maussion G, et al. Among authors: nicouleau m. Int J Mol Sci. 2023 Oct 5;24(19):14926. doi: 10.3390/ijms241914926. Int J Mol Sci. 2023. PMID: 37834379 Free PMC article.
An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders.
Dorion MF, Casas D, Shlaifer I, Yaqubi M, Fleming P, Karpilovsky N, Chen CX, Nicouleau M, Piscopo VEC, MacDougall EJ, Alluli A, Goldsmith TM, Schneider A, Dorion S, Aprahamian N, MacDonald A, Thomas RA, Dudley RWR, Hall JA, Fon EA, Antel JP, Stratton JA, Durcan TM, La Piana R, Healy LM. Dorion MF, et al. Among authors: nicouleau m. Mol Neurodegener. 2024 Apr 5;19(1):31. doi: 10.1186/s13024-024-00723-x. Mol Neurodegener. 2024. PMID: 38576039 Free PMC article.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: nicouleau m. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschké P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V. Chemin J, et al. Among authors: nicouleau m. Brain. 2018 Jul 1;141(7):1998-2013. doi: 10.1093/brain/awy145. Brain. 2018. PMID: 29878067
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Megahed H, Nicouleau M, Barcia G, Medina-Cano D, Siquier-Pernet K, Bole-Feysot C, Parisot M, Masson C, Nitschké P, Rio M, Bahi-Buisson N, Desguerre I, Munnich A, Boddaert N, Colleaux L, Cantagrel V. Megahed H, et al. Among authors: nicouleau m. Orphanet J Rare Dis. 2016 May 4;11(1):57. doi: 10.1186/s13023-016-0436-9. Orphanet J Rare Dis. 2016. PMID: 27146152 Free PMC article.
13 results