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Page 1
Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
Renard P, Caccavelli L, Legendre A, Tuchmann-Durand C, Balakirouchenane D, Blanchet B, Narjoz C, Straube M, Hubas A, Garros A, Mention K, Bednarek N, Goudin N, Broissand C, Schlatter J, Cisternino S, Cagnard N, van Endert P, Diana J, de Calbiac H, de Lonlay P. Renard P, et al. Among authors: caccavelli l. Biomed Pharmacother. 2023 Jul;163:114813. doi: 10.1016/j.biopha.2023.114813. Epub 2023 May 5. Biomed Pharmacother. 2023. PMID: 37150031 Free article.
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin-1-deficient patients.
Tuchmann-Durand C, Roda C, Renard P, Mortamet G, Bérat CM, Altenburger L, de Larauz MH, Thevenet E, Cottart CH, Moulin F, Bouchereau J, Brassier A, Arnoux JB, Schiff M, Bednarek N, Lamireau D, Garros A, Mention K, Cano A, Finger L, Pelosi M, Brochet CS, Caccavelli L, Raphalen JH, Renolleau S, Oualha M, de Lonlay P. Tuchmann-Durand C, et al. Among authors: caccavelli l. J Inherit Metab Dis. 2023 Jul;46(4):649-661. doi: 10.1002/jimd.12592. Epub 2023 Feb 3. J Inherit Metab Dis. 2023. PMID: 36680547
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Bérat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge H, Cano A, Chabrol B, Hoebeke C, Polak M, Stoupa A, Feillet F, Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Wardé MT, Afenjar A, Benoist JF, Madrange M, Caccavelli L, Renard P, Hubas A, Nusbaum P, Pontoizeau C, Gobin S, van Endert P, Ottolenghi C, Maltret A, de Lonlay P. Bérat CM, et al. Among authors: caccavelli l. J Inherit Metab Dis. 2021 Mar;44(2):415-425. doi: 10.1002/jimd.12314. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32929747
Clonal tracking in gene therapy patients reveals a diversity of human hematopoietic differentiation programs.
Six E, Guilloux A, Denis A, Lecoules A, Magnani A, Vilette R, Male F, Cagnard N, Delville M, Magrin E, Caccavelli L, Roudaut C, Plantier C, Sobrino S, Gregg J, Nobles CL, Everett JK, Hacein-Bey-Abina S, Galy A, Fischer A, Thrasher AJ, André I, Cavazzana M, Bushman FD. Six E, et al. Among authors: caccavelli l. Blood. 2020 Apr 9;135(15):1219-1231. doi: 10.1182/blood.2019002350. Blood. 2020. PMID: 32040546 Free PMC article. Clinical Trial.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: caccavelli l. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free article.
Faster T-cell development following gene therapy compared with haploidentical HSCT in the treatment of SCID-X1.
Touzot F, Moshous D, Creidy R, Neven B, Frange P, Cros G, Caccavelli L, Blondeau J, Magnani A, Luby JM, Ternaux B, Picard C, Blanche S, Fischer A, Hacein-Bey-Abina S, Cavazzana M. Touzot F, et al. Among authors: caccavelli l. Blood. 2015 Jun 4;125(23):3563-9. doi: 10.1182/blood-2014-12-616003. Epub 2015 Apr 13. Blood. 2015. PMID: 25869287 Free article. Clinical Trial.
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency.
Hacein-Bey-Abina S, Pai SY, Gaspar HB, Armant M, Berry CC, Blanche S, Bleesing J, Blondeau J, de Boer H, Buckland KF, Caccavelli L, Cros G, De Oliveira S, Fernández KS, Guo D, Harris CE, Hopkins G, Lehmann LE, Lim A, London WB, van der Loo JC, Malani N, Male F, Malik P, Marinovic MA, McNicol AM, Moshous D, Neven B, Oleastro M, Picard C, Ritz J, Rivat C, Schambach A, Shaw KL, Sherman EA, Silberstein LE, Six E, Touzot F, Tsytsykova A, Xu-Bayford J, Baum C, Bushman FD, Fischer A, Kohn DB, Filipovich AH, Notarangelo LD, Cavazzana M, Williams DA, Thrasher AJ. Hacein-Bey-Abina S, et al. Among authors: caccavelli l. N Engl J Med. 2014 Oct 9;371(15):1407-17. doi: 10.1056/NEJMoa1404588. N Engl J Med. 2014. PMID: 25295500 Free PMC article. Clinical Trial.
Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome.
Hacein-Bey Abina S, Gaspar HB, Blondeau J, Caccavelli L, Charrier S, Buckland K, Picard C, Six E, Himoudi N, Gilmour K, McNicol AM, Hara H, Xu-Bayford J, Rivat C, Touzot F, Mavilio F, Lim A, Treluyer JM, Héritier S, Lefrère F, Magalon J, Pengue-Koyi I, Honnet G, Blanche S, Sherman EA, Male F, Berry C, Malani N, Bushman FD, Fischer A, Thrasher AJ, Galy A, Cavazzana M. Hacein-Bey Abina S, et al. Among authors: caccavelli l. JAMA. 2015 Apr 21;313(15):1550-63. doi: 10.1001/jama.2015.3253. JAMA. 2015. PMID: 25898053 Free PMC article. Clinical Trial.
INSPIIRED: A Pipeline for Quantitative Analysis of Sites of New DNA Integration in Cellular Genomes.
Sherman E, Nobles C, Berry CC, Six E, Wu Y, Dryga A, Malani N, Male F, Reddy S, Bailey A, Bittinger K, Everett JK, Caccavelli L, Drake MJ, Bates P, Hacein-Bey-Abina S, Cavazzana M, Bushman FD. Sherman E, et al. Among authors: caccavelli l. Mol Ther Methods Clin Dev. 2016 Dec 18;4:39-49. doi: 10.1016/j.omtm.2016.11.002. eCollection 2017 Mar 17. Mol Ther Methods Clin Dev. 2016. PMID: 28344990 Free PMC article.
33 results