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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
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.
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?
Roubertie A, Hieu N, Roux CJ, Leboucq N, Manes G, Charif M, Echenne B, Goizet C, Guissart C, Meyer P, Marelli C, Rivier F, Burglen L, Horvath R, Hamel CP, Lenaers G. Roubertie A, et al. Among authors: leboucq n. Neurol Genet. 2018 Jan 24;4(1):e217. doi: 10.1212/NXG.0000000000000217. eCollection 2018 Feb. Neurol Genet. 2018. PMID: 29473051 Free PMC article.
Diffusion tensor imaging differentiates vascular parkinsonism from parkinsonian syndromes of degenerative origin in elderly subjects.
Deverdun J, Menjot de Champfleur S, Cabello-Aguilar S, Maury F, Molino F, Charif M, Leboucq N, Ayrignac X, Labauge P, Bonafe A, Castelnovo G, Le Bars E, Geny C, Menjot de Champfleur N. Deverdun J, et al. Among authors: leboucq n. Eur J Radiol. 2014 Nov;83(11):2074-9. doi: 10.1016/j.ejrad.2014.07.012. Epub 2014 Jul 24. Eur J Radiol. 2014. PMID: 25154005
83 results