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Page 1
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J. Laquerriere A, et al. Among authors: tawk m. J Med Genet. 2022 Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820833 Free PMC article.
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
Zhou J, Tawk M, Tiziano FD, Veillet J, Bayes M, Nolent F, Garcia V, Servidei S, Bertini E, Castro-Giner F, Renda Y, Carpentier S, Andrieu-Abadie N, Gut I, Levade T, Topaloglu H, Melki J. Zhou J, et al. Among authors: tawk m. Am J Hum Genet. 2012 Jul 13;91(1):5-14. doi: 10.1016/j.ajhg.2012.05.001. Epub 2012 Jun 14. Am J Hum Genet. 2012. PMID: 22703880 Free PMC article.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J. Laquérriere A, et al. Among authors: tawk m. Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6. Hum Mol Genet. 2014. PMID: 24319099
Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype.
Tas B, Starnoni D, Smajda S, Vivanti AJ, Adamsbaum C, Eyries M, Melki J, Tawk M, Ozanne A, Revencu N, Soubrier F, Siala S, Vikkula M, Deiva K, Saliou G. Tas B, et al. Among authors: tawk m. Front Pediatr. 2022 Apr 25;10:871565. doi: 10.3389/fped.2022.871565. eCollection 2022. Front Pediatr. 2022. PMID: 35547535 Free PMC article.
Neuronal Ndrg4 Is Essential for Nodes of Ranvier Organization in Zebrafish.
Fontenas L, De Santis F, Di Donato V, Degerny C, Chambraud B, Del Bene F, Tawk M. Fontenas L, et al. Among authors: tawk m. PLoS Genet. 2016 Nov 30;12(11):e1006459. doi: 10.1371/journal.pgen.1006459. eCollection 2016 Nov. PLoS Genet. 2016. PMID: 27902705 Free PMC article.
Immunophilin FKBP52 induces Tau-P301L filamentous assembly in vitro and modulates its activity in a model of tauopathy.
Giustiniani J, Chambraud B, Sardin E, Dounane O, Guillemeau K, Nakatani H, Paquet D, Kamah A, Landrieu I, Lippens G, Baulieu EE, Tawk M. Giustiniani J, et al. Among authors: tawk m. Proc Natl Acad Sci U S A. 2014 Mar 25;111(12):4584-9. doi: 10.1073/pnas.1402645111. Epub 2014 Mar 12. Proc Natl Acad Sci U S A. 2014. PMID: 24623856 Free PMC article.
Rho GTPases Signaling in Zebrafish Development and Disease.
Boueid MJ, Mikdache A, Lesport E, Degerny C, Tawk M. Boueid MJ, et al. Among authors: tawk m. Cells. 2020 Dec 8;9(12):2634. doi: 10.3390/cells9122634. Cells. 2020. PMID: 33302361 Free PMC article. Review.
46 results