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The Québec NTBC Study.
Québec NTBC Study Group; Alvarez F, Atkinson S, Bouchard M, Brunel-Guitton C, Buhas D, Bussières JF, Dubois J, Fenyves D, Goodyer P, Gosselin M, Halac U, Labbé P, Laframboise R, Maranda B, Melançon S, Merouani A, Mitchell GA, Mitchell J, Parizeault G, Pelletier L, Phan V, Turcotte JF. Québec NTBC Study Group, et al. Among authors: buhas d. Adv Exp Med Biol. 2017;959:187-195. doi: 10.1007/978-3-319-55780-9_17. Adv Exp Med Biol. 2017. PMID: 28755196 Review.
A treatable new cause of chorea: beta-ketothiolase deficiency.
Buhaş D, Bernard G, Fukao T, Décarie JC, Chouinard S, Mitchell GA. Buhaş D, et al. Mov Disord. 2013 Jul;28(8):1054-6. doi: 10.1002/mds.25538. Epub 2013 Jul 1. Mov Disord. 2013. PMID: 23818432 No abstract available.
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Tingley K, Lamoureux M, Pugliese M, Geraghty MT, Kronick JB, Potter BK, Coyle D, Wilson K, Kowalski M, Austin V, Brunel-Guitton C, Buhas D, Chan AKJ, Dyack S, Feigenbaum A, Giezen A, Goobie S, Greenberg CR, Ghai SJ, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mohan C, Mhanni A, Mitchell G, Mitchell JJ, Nagy L, Napier M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Trakadis Y, Turner L, Van Karnebeek C, Vallance H, Vandersteen A, Walia J, Wilson A, Wilson BJ, Yu AC, Yuskiv N, Chakraborty P; Canadian Inherited Metabolic Diseases Research Network. Tingley K, et al. Among authors: buhas d. Orphanet J Rare Dis. 2020 Apr 10;15(1):89. doi: 10.1186/s13023-020-01358-z. Orphanet J Rare Dis. 2020. PMID: 32276663 Free PMC article.
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.
Paik K, Lines MA, Chakraborty P, Khangura SD, Latocki M, Al-Hertani W, Brunel-Guitton C, Khan A, Penny B, Rockman-Greenberg C, Rupar CA, Sondheimer N, Tarnopolsky M, Tingley K, Coyle D, Dyack S, Feigenbaum A, Geraghty MT, Gillis J, van Karnebeek CDM, Kronick JB, Little J, Potter M, Siriwardena K, Sparkes R, Turner LA, Wilson K, Buhas D, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Paik K, et al. Among authors: buhas d. Can J Neurol Sci. 2019 Nov;46(6):717-726. doi: 10.1017/cjn.2019.240. Can J Neurol Sci. 2019. PMID: 31387656
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CD, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Ng YS; Care4Rare Canada Consortium; McFarland R, Vanderver A. Ulrick N, et al. Among authors: buhas d. Pediatr Neurol. 2017 Jan;66:59-62. doi: 10.1016/j.pediatrneurol.2016.09.003. Epub 2016 Sep 13. Pediatr Neurol. 2017. PMID: 27843092
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.
Lepelley A, Della Mina E, Van Nieuwenhove E, Waumans L, Fraitag S, Rice GI, Dhir A, Frémond ML, Rodero MP, Seabra L, Carter E, Bodemer C, Buhas D, Callewaert B, de Lonlay P, De Somer L, Dyment DA, Faes F, Grove L, Holden S, Hully M, Kurian MA, McMillan HJ, Suetens K, Tyynismaa H, Chhun S, Wai T, Wouters C, Bader-Meunier B, Crow YJ. Lepelley A, et al. Among authors: buhas d. J Exp Med. 2021 Oct 4;218(10):e20201560. doi: 10.1084/jem.20201560. Epub 2021 Aug 13. J Exp Med. 2021. PMID: 34387651 Free PMC article.
37 results