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Page 1
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
Roubertie A, Charif M, Meyer P, Manes G, Meunier I, Taieb G, Junta Morales R, Guichet A, Delettre C, Sarzi E, Leboucq N, Rivier F, Lenaers G. Roubertie A, et al. Among authors: leboucq n. Ann Clin Transl Neurol. 2019 Aug;6(8):1572-1577. doi: 10.1002/acn3.50860. Epub 2019 Jul 27. Ann Clin Transl Neurol. 2019. PMID: 31402626 Free PMC article.
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.
Roubertie A, Leboucq N, Picot MC, Nogue E, Brunel H, Le Bars E, Manes G, Angebault Prouteau C, Blanchet C, Mondain M, Chevassus H, Amati-Bonneau P, Sarzi E, Pagès M, Villain M, Meunier I, Lenaers G, Hamel CP. Roubertie A, et al. Among authors: leboucq n. J Neurol Sci. 2015 Feb 15;349(1-2):154-60. doi: 10.1016/j.jns.2015.01.008. Epub 2015 Jan 13. J Neurol Sci. 2015. PMID: 25641387
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
Angebault C, Charif M, Guegen N, Piro-Megy C, Mousson de Camaret B, Procaccio V, Guichet PO, Hebrard M, Manes G, Leboucq N, Rivier F, Hamel CP, Lenaers G, Roubertie A. Angebault C, et al. Among authors: leboucq n. Hum Mol Genet. 2015 Jul 15;24(14):3948-55. doi: 10.1093/hmg/ddv133. Epub 2015 Apr 21. Hum Mol Genet. 2015. PMID: 25901006
Imaging of the pre-chiasmatic optic nerve.
Menjot de Champfleur N, Leboucq N, Menjot de Champfleur S, Bonafé A. Menjot de Champfleur N, et al. Among authors: leboucq n. Diagn Interv Imaging. 2013 Oct;94(10):973-84. doi: 10.1016/j.diii.2013.06.001. Epub 2013 Jul 4. Diagn Interv Imaging. 2013. PMID: 23830778 Free article. Review.
The olfactory system.
Leboucq N, Menjot de Champfleur N, Menjot de Champfleur S, Bonafé A. Leboucq N, et al. Diagn Interv Imaging. 2013 Oct;94(10):985-91. doi: 10.1016/j.diii.2013.06.006. Epub 2013 Aug 7. Diagn Interv Imaging. 2013. PMID: 23932763 Free article. Review.
85 results