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Page 1
[Sweet heart. Hypertrophic cardiomyopathy in a 49-year-old man].
Benyamine A, Riccardi F, Coze S, Jacquier A, Chaussenot A, Paquis V, Sallée M, Aissi K, Thuny F, Frances Y, Granel B, Bauvois A, Malezieux-Picard A, Mourguet M, Murarasu A, Saada N. Benyamine A, et al. Among authors: chaussenot a. Rev Med Interne. 2016 Nov;37(11):779-781. doi: 10.1016/j.revmed.2016.06.007. Epub 2016 Sep 9. Rev Med Interne. 2016. PMID: 27623328 French. No abstract available.
Nephrotic syndrome and mitochondrial disorders: Questions.
Bernardor J, Faudeux C, Chaussenot A, Antignac C, Goldenberg A, Gubler MC, Wagner N, Bérard E. Bernardor J, et al. Among authors: chaussenot a. Pediatr Nephrol. 2019 Aug;34(8):1373-1374. doi: 10.1007/s00467-019-04216-8. Epub 2019 Mar 12. Pediatr Nephrol. 2019. PMID: 30863910 No abstract available.
Nephrotic syndrome and mitochondrial disorders: answers.
Bernardor J, Faudeux C, Chaussenot A, Antignac C, Goldenberg A, Gubler MC, Wagner N, Bérard E. Bernardor J, et al. Among authors: chaussenot a. Pediatr Nephrol. 2019 Aug;34(8):1375-1377. doi: 10.1007/s00467-019-04217-7. Epub 2019 Mar 12. Pediatr Nephrol. 2019. PMID: 30863911 No abstract available.
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.
Liautard-Haag C, Durif G, VanGoethem C, Baux D, Louis A, Cayrefourcq L, Lamairia M, Willems M, Zordan C, Dorian V, Rooryck C, Goizet C, Chaussenot A, Monteil L, Calvas P, Miry C, Favre R, Le Boette E, Fradin M, Roux AF, Cossée M, Koenig M, Alix-Panabière C, Guissart C, Vincent MC. Liautard-Haag C, et al. Among authors: chaussenot a. Sci Rep. 2022 Jul 6;12(1):11423. doi: 10.1038/s41598-022-15307-2. Sci Rep. 2022. PMID: 35794169 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.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
63 results