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Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, Friant S, Dollfus H. Scheidecker S, et al. Hum Mutat. 2019 Oct;40(10):1826-1840. doi: 10.1002/humu.23799. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31116475 Free article.
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
Lefèvre CR, Labarthe F, Dufour D, Moreau C, Faoucher M, Rollier P, Arnoux JB, Tardieu M, Damaj L, Bendavid C, Dessein AF, Acquaviva-Bourdain C, Cheillan D. Lefèvre CR, et al. Among authors: acquaviva bourdain c. Int J Neonatal Screen. 2023 Feb 1;9(1):6. doi: 10.3390/ijns9010006. Int J Neonatal Screen. 2023. PMID: 36810318 Free PMC article. Review.
The wide POLG-related spectrum: An integrated view.
Béreau M, Anheim M, Echaniz-Laguna A, Magot A, Verny C, Goideau-Sevrain M, Barth M, Amati-Bonneau P, Allouche S, Ayrignac X, Bédat-Millet AL, Guyant-Maréchal L, Kuntzer T, Ochsner F, Petiot P, Vial C, Omer S, Sole G, Taieb G, Carvalho N, Tio G, Kremer S, Acquaviva-Bourdain C, de Camaret BM, Tranchant C. Béreau M, et al. J Neurol Sci. 2016 Sep 15;368:70-6. doi: 10.1016/j.jns.2016.06.062. Epub 2016 Jun 29. J Neurol Sci. 2016. PMID: 27538604 No abstract available.
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: acquaviva bourdain c. Ann Clin Transl Neurol. 2024 May 4. doi: 10.1002/acn3.52062. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38703036 Free article.
Monitoring of asparagine depletion and anti-L-asparaginase antibodies in adult acute lymphoblastic leukemia treated in the pediatric-inspired GRAALL-2005 trial.
Paillassa J, Leguay T, Thomas X, Huguet F, Audrain M, Lheritier V, Vianey-Saban C, Acquaviva-Bourdain C, Pagan C, Dombret H, Ifrah N, Boissel N, Hunault-Berger M. Paillassa J, et al. Blood Cancer J. 2018 May 22;8(5):45. doi: 10.1038/s41408-018-0084-5. Blood Cancer J. 2018. PMID: 29795175 Free PMC article. No abstract available.
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.
Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M. Krahn M, et al. Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552423 Free PMC article.
Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy.
Machuca-Gayet I, Quinaux T, Bertholet-Thomas A, Gaillard S, Claramunt-Taberner D, Acquaviva-Bourdain C, Bacchetta J. Machuca-Gayet I, et al. Int J Mol Sci. 2020 Apr 28;21(9):3109. doi: 10.3390/ijms21093109. Int J Mol Sci. 2020. PMID: 32354056 Free PMC article. Review.
48 results