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Page 1
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: beillard e. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
Nabavizadeh N, Bressin A, Shboul M, Moreno Traspas R, Chia PH, Bonnard C, Szenker-Ravi E, Sarıbaş B, Beillard E, Altunoglu U, Hojati Z, Drutman S, Freier S, El-Khateeb M, Fathallah R, Casanova JL, Soror W, Arafat A, Escande-Beillard N, Mayer A, Reversade B. Nabavizadeh N, et al. Among authors: beillard e. EMBO Mol Med. 2023 Feb 8;15(2):e16478. doi: 10.15252/emmm.202216478. Epub 2023 Jan 18. EMBO Mol Med. 2023. PMID: 36652330 Free PMC article.
Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2.
Escande-Beillard N, Loh A, Saleem SN, Kanata K, Hashimoto Y, Altunoglu U, Metoska A, Grandjean J, Ng FM, Pomp O, Baburajendran N, Wong J, Hill J, Beillard E, Cozzone P, Zaki M, Kayserili H, Hamada H, Shiratori H, Reversade B. Escande-Beillard N, et al. Among authors: beillard e. Neuron. 2020 Jul 8;107(1):82-94.e6. doi: 10.1016/j.neuron.2020.03.028. Epub 2020 Apr 23. Neuron. 2020. PMID: 32330411 Free article.
Epidemiology of infection by pulmonary non-tuberculous mycobacteria in French Guiana 2008-2018.
Chaptal M, Andrejak C, Bonifay T, Beillard E, Guillot G, Guyomard-Rabenirina S, Demar M, Trombert-Paolantoni S, Jacomo V, Mosnier E, Veziris N, Djossou F, Epelboin L; French Guiana PNTM working group. Chaptal M, et al. Among authors: beillard e. PLoS Negl Trop Dis. 2022 Sep 9;16(9):e0010693. doi: 10.1371/journal.pntd.0010693. eCollection 2022 Sep. PLoS Negl Trop Dis. 2022. PMID: 36084148 Free PMC article.
High incidence of acute Q fever among incarcerated people in Cayenne, French Guiana.
Bonifay T, Beillard E, Daniel M, Schiemsky V, Vierendeels E, Demar M, Pastre A, Hamiche K, Nacher M, Epelboin L. Bonifay T, et al. Among authors: beillard e. Rev Inst Med Trop Sao Paulo. 2022 Jun 10;64:e42. doi: 10.1590/S1678-9946202264042. eCollection 2022. Rev Inst Med Trop Sao Paulo. 2022. PMID: 35703611 Free PMC article.
High endemicity of Q fever in French Guiana: A cross sectional study (2007-2017).
Thill P, Eldin C, Dahuron L, Berlioz-Artaud A, Demar M, Nacher M, Beillard E, Djossou F, Epelboin L. Thill P, et al. Among authors: beillard e. PLoS Negl Trop Dis. 2022 May 18;16(5):e0010349. doi: 10.1371/journal.pntd.0010349. eCollection 2022 May. PLoS Negl Trop Dis. 2022. PMID: 35584144 Free PMC article.
Seroprevalence of anti-SARS-CoV-2 IgG at the first epidemic peak in French Guiana, July 2020.
Flamand C, Alves Sarmento C, Enfissi A, Bailly S, Beillard E, Gaillet M, Michaud C, Servas V, Clement N, Perilhou A, Carage T, Musso D, Carod JF, Eustache S, Tourbillon C, Boizon E, James S, Djossou F, Salje H, Cauchemez S, Rousset D. Flamand C, et al. Among authors: beillard e. PLoS Negl Trop Dis. 2021 Nov 12;15(11):e0009945. doi: 10.1371/journal.pntd.0009945. eCollection 2021 Nov. PLoS Negl Trop Dis. 2021. PMID: 34767549 Free PMC article.
Human Q Fever on the Guiana Shield and Brazil: Recent Findings and Remaining Questions.
Epelboin L, Eldin C, Thill P, de Santi VP, Abboud P, Walter G, Melzani A, Letertre-Gibert P, Perez L, Demar M, Boutrou M, Fernandes J, Cermeño JR, Panizo MM, Vreden SG, Djossou F, Beillard E, de Waard JH, de Lemos ERS. Epelboin L, et al. Among authors: beillard e. Curr Trop Med Rep. 2021;8(3):173-182. doi: 10.1007/s40475-021-00243-4. Epub 2021 Jun 1. Curr Trop Med Rep. 2021. PMID: 34094813 Free PMC article. Review.
23 results