Yves Mathieu

"Yves Mathieu"
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Bevilacqua J, Mathieu Y, Krahn M, et al. (2016) Calpainopathy in Chile, first cases reported Neuromuscular Disorders. 26: S91
Barthélémy F, Blouin C, Wein N, et al. (2015) Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells. Journal of Neuromuscular Diseases. 2: 281-290
Gorokhova S, Cerino M, Mathieu Y, et al. (2015) Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders. Applied & Translational Genomics. 7: 26-31
Sevy A, Cerino M, Gorokhova S, et al. (2015) Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing. Journal of Neurology, Neurosurgery, and Psychiatry
Trochet D, Mathieu Y, Pontual Ld, et al. (2009) In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation. Human Mutation. 30: E421-31
Trochet D, de Pontual L, Estêvao MH, et al. (2008) Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse). Human Mutation. 29: 770
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