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Page 1
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
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.
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.
An Inducible Luminescent System to Explore Parkinson's Disease-Associated Genes.
Gandy A, Maussion G, Al-Habyan S, Nicouleau M, You Z, Chen CX, Abdian N, Aprahamian N, Krahn AI, Larocque L, Durcan TM, Deneault E. Gandy A, et al. Among authors: nicouleau m. Int J Mol Sci. 2024 Aug 31;25(17):9493. doi: 10.3390/ijms25179493. Int J Mol Sci. 2024. PMID: 39273438 Free PMC article.
A dynamic in vitro model of Down syndrome neurogenesis with trisomy 21 gene dosage correction.
Bansal P, Banda EC, Glatt-Deeley HR, Stoddard CE, Linsley JW, Arora N, Deleschaux C, Ahern DT, Kondaveeti Y, Massey RE, Nicouleau M, Wang S, Sabariego-Navarro M, Dierssen M, Finkbeiner S, Pinter SF. Bansal P, et al. Among authors: nicouleau m. Sci Adv. 2024 Jun 7;10(23):eadj0385. doi: 10.1126/sciadv.adj0385. Epub 2024 Jun 7. Sci Adv. 2024. PMID: 38848354 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.
16 results