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Page 1
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.
Rouzier C, Le Guédard-Méreuze S, Fragaki K, Serre V, Miro J, Tuffery-Giraud S, Chaussenot A, Bannwarth S, Caruba C, Ostergaard E, Pellissier JF, Richelme C, Espil C, Chabrol B, Paquis-Flucklinger V. Rouzier C, et al. Among authors: chaussenot a. J Med Genet. 2010 Oct;47(10):670-6. doi: 10.1136/jmg.2009.073445. Epub 2010 Aug 7. J Med Genet. 2010. PMID: 20693550 Free article.
[Epilepsy and mitochondrial diseases: retrospective study on 53 epileptic children].
Caietta E, Cano A, Halbert C, Hugonenq C, Mancini J, Milh M, Lépine A, Villeneuve N, Chaussenot A, Paquis-Flucklinger V, Chabrol B. Caietta E, et al. Among authors: chaussenot a. Arch Pediatr. 2012 Aug;19(8):794-802. doi: 10.1016/j.arcped.2012.05.004. Epub 2012 Jul 11. Arch Pediatr. 2012. PMID: 22789745 French.
[Bladder-sphincter disorders associated with Wolfram syndrome].
Ribière C, Kaboré FA, Chaussenot A, Paquis-Flucklinger V, Lenne-Aurier K, Gaillet S, Boissier R, Karsenty G. Ribière C, et al. Among authors: chaussenot a. Prog Urol. 2013 Jun;23(8):519-23. doi: 10.1016/j.purol.2013.03.020. Epub 2013 May 4. Prog Urol. 2013. PMID: 23725582 French.
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG. Astuti D, et al. Among authors: chaussenot a. Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1. Hum Mutat. 2017. PMID: 28432734 Free PMC article.
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Benkirane M, Bonhomme M, Morsy H, Safgren SL, Marelli C, Chaussenot A, Smedley D, Cipriani V, de Sainte-Agathe JM, Ding C, Larrieu L, Vestito L, Margot H, Lesca G, Ramond F, Castrioto A, Baux D, Verheijen J, Sansa E, Giunti P, Haetty A, Bergougnoux A, Pointaux M, Ardouin O, Van Goethem C, Vincent MC, Hadjivassiliou M, Cossée M, Rouaud T, Bartsch O, Freeman WD, Wierenga KJ, Klee EW, Vandrovcova J, Houlden H, Debant A, Koenig M. Benkirane M, et al. Among authors: chaussenot a. Brain. 2024 Nov 4;147(11):3681-3689. doi: 10.1093/brain/awae193. Brain. 2024. PMID: 38884572
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C, Pion E, Chaussenot A, Bris C, Ait-El-Mkadem Saadi S, Desquiret-Dumas V, Gueguen N, Fragaki K, Amati-Bonneau P, Barcia G, Gaignard P, Steffann J, Pennisi A, Bonnefont JP, Lebigot E, Bannwarth S, Francou B, Rucheton B, Sternberg D, Martin-Negrier ML, Trimouille A, Hardy G, Allouche S, Acquaviva-Bourdain C, Pagan C, Lebre AS, Reynier P, Cossee M, Attarian S, Paquis-Flucklinger V; MitoDiag's Network Collaborators; Procaccio V. Rouzier C, et al. Among authors: chaussenot a. Ann Clin Transl Neurol. 2024 Jun;11(6):1478-1491. doi: 10.1002/acn3.52062. Epub 2024 May 4. Ann Clin Transl Neurol. 2024. PMID: 38703036 Free PMC article.
63 results