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Year Number of Results
2012 1
2016 2
2018 2
2021 3
2022 2
2023 1
2024 2

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12 results

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Page 1
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.
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.
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.
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.
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Perrault I, Hanein S, Zanlonghi X, Serre V, Nicouleau M, Defoort-Delhemmes S, Delphin N, Fares-Taie L, Gerber S, Xerri O, Edelson C, Goldenberg A, Duncombe A, Le Meur G, Hamel C, Silva E, Nitschke P, Calvas P, Munnich A, Roche O, Dollfus H, Kaplan J, Rozet JM. Perrault I, et al. Among authors: nicouleau m. Nat Genet. 2012 Sep;44(9):975-7. doi: 10.1038/ng.2357. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842229
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
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T. Stessman HAF, et al. Among authors: nicouleau m. Am J Hum Genet. 2016 Mar 3;98(3):541-552. doi: 10.1016/j.ajhg.2016.02.004. Am J Hum Genet. 2016. PMID: 26942287 Free PMC article.
12 results