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A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.
Boudet-Berquier J, Demattei C, Guldner L, Gallay A, Manouvrier S, Botton J, Philippat C, Delva F, Bloch J, Semaille C, Odent S, Perthus I, Randrianaivo H, Babajko S, Barjat T, Beneteau C, Brennetot N, Garne E, Haddad G, Hocine M, Lacroix I, Leuraud K, Mench M, Morris J, Patrier S, Sartelet A, Verloes A, Bonaldi C, Le Barbier M, Gagnière B, Pépin P, Ollivier R, Bitoun M, King L, Guajardo-Villar A, Gomes E, Desenclos JC, Regnault N, Benachi A. Boudet-Berquier J, et al. Among authors: bitoun m. Eur J Epidemiol. 2024 Apr 27. doi: 10.1007/s10654-024-01125-5. Online ahead of print. Eur J Epidemiol. 2024. PMID: 38671254
A centronuclear myopathy-causing mutation in dynamin-2 disrupts neuronal morphology and excitatory synaptic transmission in a murine model of the disease.
Arriagada-Diaz J, Flores-Muñoz C, Gómez-Soto B, Labraña-Allende M, Mattar-Araos M, Prado-Vega L, Hinostroza F, Gajardo I, Guerra-Fernández MJ, Bevilacqua JA, Cárdenas AM, Bitoun M, Ardiles AO, Gonzalez-Jamett AM. Arriagada-Diaz J, et al. Among authors: bitoun m. Neuropathol Appl Neurobiol. 2023 Aug;49(4):e12918. doi: 10.1111/nan.12918. Neuropathol Appl Neurobiol. 2023. PMID: 37317811
Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation.
Lemerle E, Lainé J, Benoist M, Moulay G, Bigot A, Labasse C, Madelaine A, Canette A, Aubin P, Vallat JM, Romero NB, Bitoun M, Mouly V, Marty I, Cadot B, Picas L, Vassilopoulos S. Lemerle E, et al. Among authors: bitoun m. Elife. 2023 Apr 21;12:e84139. doi: 10.7554/eLife.84139. Elife. 2023. PMID: 37083699 Free PMC article.
Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy.
Trochet D, Prudhon B, Mekzine L, Lemaitre M, Beuvin M, Julien L, Benkhelifa-Ziyyat S, Bui MT, Romero N, Bitoun M. Trochet D, et al. Among authors: bitoun m. Mol Ther Nucleic Acids. 2022 Feb 13;27:1179-1190. doi: 10.1016/j.omtn.2022.02.009. eCollection 2022 Mar 8. Mol Ther Nucleic Acids. 2022. PMID: 35282416 Free PMC article.
BIN1 modulation in vivo rescues dynamin-related myopathy.
Lionello VM, Kretz C, Edelweiss E, Crucifix C, Gómez-Oca R, Messaddeq N, Buono S, Koebel P, Massana Muñoz X, Diedhiou N, Cowling BS, Bitoun M, Laporte J. Lionello VM, et al. Among authors: bitoun m. Proc Natl Acad Sci U S A. 2022 Mar 1;119(9):e2109576119. doi: 10.1073/pnas.2109576119. Proc Natl Acad Sci U S A. 2022. PMID: 35217605 Free PMC article.
64 results