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572 results

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Page 1
POLR3A variants in hereditary spastic paraplegia and ataxia.
Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G. Gauquelin L, et al. Among authors: tarnopolsky m. Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290. Brain. 2018. PMID: 29228109 Free PMC article. No abstract available.
A population-based study of dystrophin mutations in Canada.
Mah JK, Selby K, Campbell C, Nadeau A, Tarnopolsky M, McCormick A, Dooley JM, Kolski H, Skalsky AJ, Smith RG, Buckley D, Ray PN, Yoon G. Mah JK, et al. Among authors: tarnopolsky m. Can J Neurol Sci. 2011 May;38(3):465-74. doi: 10.1017/s0317167100011896. Can J Neurol Sci. 2011. PMID: 21515508
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G. Berryer MH, et al. Among authors: tarnopolsky ma. Hum Mutat. 2013 Feb;34(2):385-94. doi: 10.1002/humu.22248. Epub 2012 Dec 12. Hum Mutat. 2013. PMID: 23161826
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR; FORGE Canada Consortium; Bulman DE, Majewski J, Tarnopolsky M, Boycott KM. Sawyer SL, et al. Among authors: tarnopolsky m. Hum Mutat. 2014 Jan;35(1):45-9. doi: 10.1002/humu.22451. Hum Mutat. 2014. PMID: 24108619 Free PMC article.
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott KM; FORGE Canada Consortium; Care4Rare Canada. Dyment DA, et al. Among authors: tarnopolsky m. Clin Genet. 2015 Jul;88(1):34-40. doi: 10.1111/cge.12464. Epub 2014 Aug 28. Clin Genet. 2015. PMID: 25046240
Altered PLP1 splicing causes hypomyelination of early myelinating structures.
Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, Østergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf NI. Kevelam SH, et al. Among authors: tarnopolsky m. Ann Clin Transl Neurol. 2015 Jun;2(6):648-61. doi: 10.1002/acn3.203. Epub 2015 May 1. Ann Clin Transl Neurol. 2015. PMID: 26125040 Free PMC article.
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Sawyer SL, et al. Among authors: tarnopolsky ma. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.
572 results