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Impact of trametinib on the neuropsychological profile of NF1 patients.
Lalancette E, Cantin É, Routhier MÈ, Mailloux C, Bertrand MC, Kiaei DS, Larouche V, Tabori U, Hawkins C, Ellezam B, Décarie JC, Théoret Y, Métras MÉ, McKeown T, Ospina LH, Vairy S, Ramaswamy V, Coltin H, Sultan S, Legault G, Bouffet É, Lafay-Cousin L, Hukin J, Erker C, Caru M, Dehaes M, Jabado N, Perreault S, Lippé S. Lalancette E, et al. Among authors: ospina lh. J Neurooncol. 2024 May;167(3):447-454. doi: 10.1007/s11060-024-04624-3. Epub 2024 Mar 5. J Neurooncol. 2024. PMID: 38443693 Clinical Trial.
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium; Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL. Srour M, et al. Among authors: ospina lh. Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17. Am J Hum Genet. 2015. PMID: 26477546 Free PMC article.
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.
La Piana R, Weraarpachai W, Ospina LH, Tetreault M, Majewski J; Care4Rare Canada Consortium; Bruce Pike G, Decarie JC, Tampieri D, Brais B, Shoubridge EA. La Piana R, et al. Among authors: ospina lh. Neurogenetics. 2017 Apr;18(2):97-103. doi: 10.1007/s10048-016-0506-0. Epub 2017 Jan 5. Neurogenetics. 2017. PMID: 28058511
58 results