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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: labauge p. JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121. JAMA Neurol. 2018. PMID: 29482223 Free PMC article.
Isolated spastic paraparesis leading to diagnosis of Friedreich's ataxia.
Castelnovo G, Biolsi B, Barbaud A, Labauge P, Schmitt M. Castelnovo G, et al. Among authors: labauge p. J Neurol Neurosurg Psychiatry. 2000 Nov;69(5):693. doi: 10.1136/jnnp.69.5.693. J Neurol Neurosurg Psychiatry. 2000. PMID: 11184233 Free PMC article. No abstract available.
[An exhausted small intestine....Susac syndrome].
Durant R, Labauge P, Yeche S, Castelnovo G, Reynaud D, Figarella-Branger D, Dubois A. Durant R, et al. Among authors: labauge p. Rev Med Interne. 2001 Jun;22 Suppl 2:230s-231s. doi: 10.1016/s0248-8663(01)83656-0. Rev Med Interne. 2001. PMID: 11433578 French. No abstract available.
MNGIE: diarrhea and leukoencephalopathy.
Labauge P, Durant R, Castelnovo G, Dubois A. Labauge P, et al. Neurology. 2002 Jun 25;58(12):1862. doi: 10.1212/wnl.58.12.1862. Neurology. 2002. PMID: 12084896 No abstract available.
458 results