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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. Neurogenetics. 2017 Apr;18(2):97-103. doi: 10.1007/s10048-016-0506-0. Epub 2017 Jan 5. Neurogenetics. 2017. PMID: 28058511
Neural function in DCC mutation carriers with and without mirror movements.
Vosberg DE, Beaulé V, Torres-Berrío A, Cooke D, Chalupa A, Jaworska N, Cox SML, Larcher K, Zhang Y, Allard D, Durand F, Dagher A, Benkelfat C, Srour M, Tampieri D, La Piana R, Joober R, Lepore F, Rouleau G, Pascual-Leone A, Fox MD, Flores C, Leyton M, Théoret H. Vosberg DE, et al. Among authors: la piana r. Ann Neurol. 2019 Mar;85(3):433-442. doi: 10.1002/ana.25418. Epub 2019 Feb 4. Ann Neurol. 2019. PMID: 30666715 Free PMC article.
The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders.
Huang YT, Giacomini PS, Massie R, Venkateswaran S, Trudelle AM, Fadda G, Sharifian-Dorche M, Boudjani H, Poliquin-Lasnier L, Airas L, Saveriano AW, Ziller MG, Miller E, Martinez-Rios C, Wilson N, Davila J, Rush C, Longbrake EE, Longoni G, Macaron G, Bernard G, Tampieri D, Antel J, Brais B, La Piana R. Huang YT, et al. Among authors: la piana r. Front Neurol. 2022 Jul 25;13:928493. doi: 10.3389/fneur.2022.928493. eCollection 2022. Front Neurol. 2022. PMID: 35959404 Free PMC article.
65 results