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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1984 1
1992 1
1993 3
1995 1
1996 1
1997 3
1998 3
1999 3
2000 4
2001 2
2003 6
2004 2
2005 9
2006 5
2007 7
2008 5
2009 4
2010 7
2011 7
2012 7
2013 7
2014 9
2015 11
2016 5
2017 7
2018 12
2019 10
2020 14
2021 7
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Search Results

148 results
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Page 1
ARSACS.
Vermeer S, van de Warrenburg BP, Kamsteeg EJ, Brais B, Synofzik M. Vermeer S, et al. Among authors: brais b. 2003 Dec 9 [updated 2020 Jan 2]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. GeneReviews®. 1993–2021. PMID: 20301432 Free Books & Documents. Review.
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: brais b. 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.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Among authors: brais b. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
A National Spinal Muscular Atrophy Registry for Real-World Evidence.
Hodgkinson VL, Oskoui M, Lounsberry J, M'Dahoma S, Butler E, Campbell C, MacKenzie A, McMillan HJ, Simard L, Vajsar J, Brais B, Chapman KM, Chrestian N, Crone M, Dobrowolski P, Dojeiji S, Dowling JJ, Dupré N, Genge A, Gonorazky H, Hasal S, Izenberg A, Johnston W, Leung E, Lochmüller H, Mah JK, Marerro A, Massie R, McAdam L, McCormick A, Melanson M, Mezei MM, Nguyen CE, O'Connell C, O'Ferrall EK, Pfeffer G, Phan C, Plamondon S, Poulin C, Rodrigue X, Schellenberg KL, Selby K, Sheriko J, Shoesmith C, Smith G, Taillon M, Taylor S, Warman Chardon J, Worley S, Korngut L. Hodgkinson VL, et al. Among authors: brais b. Can J Neurol Sci. 2020 Nov;47(6):810-815. doi: 10.1017/cjn.2020.111. Epub 2020 Jun 4. Can J Neurol Sci. 2020. PMID: 32493524 Free PMC article.
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G. Thiffault I, et al. Among authors: brais b. Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623. Nat Commun. 2015. PMID: 26151409 Free PMC article.
A study of impairments in oculopharyngeal muscular dystrophy.
Brisson JD, Gagnon C, Brais B, Côté I, Mathieu J. Brisson JD, et al. Among authors: brais b. Muscle Nerve. 2020 Aug;62(2):201-207. doi: 10.1002/mus.26888. Epub 2020 May 22. Muscle Nerve. 2020. PMID: 32270505
A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing.
Nicolau S, Choquet K, Bareke E, Shao YH, Brais B, O'Ferrall EK, Tétreault M, Karamchandani J. Nicolau S, et al. Among authors: brais b. Can J Neurol Sci. 2021 Mar;48(2):293-296. doi: 10.1017/cjn.2020.141. Epub 2020 Jul 10. Can J Neurol Sci. 2021. PMID: 32646536 No abstract available.
Oculopharyngeal muscular dystrophy.
Brais B. Brais B. Handb Clin Neurol. 2011;101:181-92. doi: 10.1016/B978-0-08-045031-5.00014-1. Handb Clin Neurol. 2011. PMID: 21496634 Review. No abstract available.
BAG3P215L/KO Mice as a Model of BAG3P209L Myofibrillar Myopathy.
Robertson R, Conte TC, Dicaire MJ, Rymar VV, Sadikot AF, Bryson-Richardson RJ, Lavoie JN, O'Ferrall E, Young JC, Brais B. Robertson R, et al. Among authors: brais b. Am J Pathol. 2020 Mar;190(3):554-562. doi: 10.1016/j.ajpath.2019.11.005. Epub 2020 Jan 14. Am J Pathol. 2020. PMID: 31953038 Free article.
148 results
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