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[Diagnosis and care of Wilson disease with neurological revelation].
Wagner S, Brunet AS, Bost M, Lachaux A, Broussolle E, Des Portes V, Lion-François L. Wagner S, et al. Among authors: broussolle e. Arch Pediatr. 2012 Mar;19(3):271-6. doi: 10.1016/j.arcped.2011.12.009. Epub 2012 Jan 18. Arch Pediatr. 2012. PMID: 22261259 French.
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network. Coutelier M, et al. Among authors: broussolle e. JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121. JAMA Neurol. 2018. PMID: 29482223 Free PMC article.
263 results