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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H; FORGE Canada Consortium; Michaud JL, Samuels ME. Majewski J, et al. Among authors: michaud jl. Hum Mutat. 2011 Oct;32(10):1114-7. doi: 10.1002/humu.21546. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21681853
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME. Guernsey DL, et al. Among authors: michaud jl. Am J Hum Genet. 2010 Jul 9;87(1):40-51. doi: 10.1016/j.ajhg.2010.06.003. Am J Hum Genet. 2010. PMID: 20598275 Free PMC article.
Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss.
Seyrantepe V, Lema P, Caqueret A, Dridi L, Bel Hadj S, Carpentier S, Boucher F, Levade T, Carmant L, Gravel RA, Hamel E, Vachon P, Di Cristo G, Michaud JL, Morales CR, Pshezhetsky AV. Seyrantepe V, et al. Among authors: michaud jl. PLoS Genet. 2010 Sep 16;6(9):e1001118. doi: 10.1371/journal.pgen.1001118. PLoS Genet. 2010. PMID: 20862357 Free PMC article.
257 results