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Homoplasmic deleterious MT-ATP6/8 mutations in adult patients.
Rucheton B, Jardel C, Filaut S, Amador MDM, Maisonobe T, Serre I, Romero NB, Leonard-Louis S, Haraux F, Lombès A. Rucheton B, et al. Among authors: maisonobe t. Mitochondrion. 2020 Nov;55:64-77. doi: 10.1016/j.mito.2020.08.004. Epub 2020 Aug 26. Mitochondrion. 2020. PMID: 32858252
Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.
Charron P, Villard E, Sébillon P, Laforêt P, Maisonobe T, Duboscq-Bidot L, Romero N, Drouin-Garraud V, Frébourg T, Richard P, Eymard B, Komajda M. Charron P, et al. Among authors: maisonobe t. Heart. 2004 Aug;90(8):842-6. doi: 10.1136/hrt.2003.029504. Heart. 2004. PMID: 15253947 Free PMC article.
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
Malfatti E, Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB. Malfatti E, et al. Among authors: maisonobe t. J Neuropathol Exp Neurol. 2013 Sep;72(9):833-45. doi: 10.1097/NEN.0b013e3182a23506. J Neuropathol Exp Neurol. 2013. PMID: 23965743 Free PMC article.
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.
Tchikviladzé M, Gilleron M, Maisonobe T, Galanaud D, Laforêt P, Durr A, Eymard B, Mochel F, Ogier H, Béhin A, Stojkovic T, Degos B, Gourfinkel-An I, Sedel F, Anheim M, Elbaz A, Viala K, Vidailhet M, Brice A, Jardel C, Lombès A. Tchikviladzé M, et al. Among authors: maisonobe t. J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):646-54. doi: 10.1136/jnnp-2013-306799. Epub 2014 Aug 11. J Neurol Neurosurg Psychiatry. 2015. PMID: 25118206
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, Carrière N, Clavelou P, Eymard B, Bitoun M, Rendu J, Fauré J, Weis J, Mandel JL, Romero NB, Laporte J. Böhm J, et al. Among authors: maisonobe t. Brain. 2014 Dec;137(Pt 12):3160-70. doi: 10.1093/brain/awu272. Epub 2014 Sep 25. Brain. 2014. PMID: 25260562
Myofibrillar myopathies: State of the art, present and future challenges.
Béhin A, Salort-Campana E, Wahbi K, Richard P, Carlier RY, Carlier P, Laforêt P, Stojkovic T, Maisonobe T, Verschueren A, Franques J, Attarian S, Maues de Paula A, Figarella-Branger D, Bécane HM, Nelson I, Duboc D, Bonne G, Vicart P, Udd B, Romero N, Pouget J, Eymard B. Béhin A, et al. Among authors: maisonobe t. Rev Neurol (Paris). 2015 Oct;171(10):715-29. doi: 10.1016/j.neurol.2015.06.002. Epub 2015 Sep 3. Rev Neurol (Paris). 2015. PMID: 26342832 Review.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bönnemann CG, Laporte J, Cooper ST. O'Grady GL, et al. Among authors: maisonobe t. Am J Hum Genet. 2016 Nov 3;99(5):1086-1105. doi: 10.1016/j.ajhg.2016.09.005. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745833 Free PMC article.
263 results