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Channelopathies: a review.
Bernard G, Shevell MI. Bernard G, et al. Pediatr Neurol. 2008 Feb;38(2):73-85. doi: 10.1016/j.pediatrneurol.2007.09.007. Pediatr Neurol. 2008. PMID: 18206787 Review.
Abnormal myelination in ring chromosome 18 syndrome.
Benini R, Saint-Martin C, Shevell MI, Bernard G. Benini R, et al. Among authors: bernard g. J Child Neurol. 2012 Aug;27(8):1042-7. doi: 10.1177/0883073811430268. Epub 2012 Jan 30. J Child Neurol. 2012. PMID: 22290857
Ataxia-telangiectasia presenting with a novel immunodeficiency.
Perreault S, Bernard G, Lortie A, Le Deist F, Decaluwe H. Perreault S, et al. Among authors: bernard g. Pediatr Neurol. 2012 May;46(5):322-4. doi: 10.1016/j.pediatrneurol.2012.02.027. Pediatr Neurol. 2012. PMID: 22520355
Vanishing white matter disease in French-Canadian patients from Quebec.
Robinson MÈ, Rossignol E, Brais B, Rouleau G, Arbour JF, Bernard G. Robinson MÈ, et al. Among authors: bernard g. Pediatr Neurol. 2014 Aug;51(2):225-32. doi: 10.1016/j.pediatrneurol.2014.05.006. Epub 2014 May 14. Pediatr Neurol. 2014. PMID: 25079571
Diffuse hypomyelination is not obligate for POLR3-related disorders.
La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Õunap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C, Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G. La Piana R, et al. Among authors: bernard g. Neurology. 2016 Apr 26;86(17):1622-6. doi: 10.1212/WNL.0000000000002612. Epub 2016 Mar 30. Neurology. 2016. PMID: 27029625 Free PMC article.
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: bernard g. Pediatr Neurol. 2017 Jan;66:59-62. doi: 10.1016/j.pediatrneurol.2016.09.003. Epub 2016 Sep 13. Pediatr Neurol. 2017. PMID: 27843092
891 results