Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis

Autor: Davide Vecchio, Marina Macchiaiolo, Michaela V. Gonfiantini, Filippo M. Panfili, Francesco Petrizzelli, Niccolò Liorni, Fabiana Cortellessa, Lorenzo Sinibaldi, Ippolita Rana, Emanuele Agolini, Dario Cocciadiferro, Nicole Colantoni, Michela Semeraro, Cristiano Rizzo, Annalisa Deodati, Nicola Cotugno, Serena Caggiano, Elisabetta Verrillo, Carlotta G. Nucci, Serpil Alkan, Jorge M. Saraiva, Joaquim De Sá, Pedro M. Almeida, Jayanth Krishna, Paola S. Buonuomo, Diego Martinelli, Carlo Dionisi Vici, Viviana Caputo, Andrea Bartuli, Antonio Novelli, Tommaso Mazza

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

IntroductionInfantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in NALCN gene (MIM#61

Externí odkaz: https://doaj.org/article/e864f1bd10f74411bad1a66543ecb80b

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Noise, interaction, nonlinear dynamics and the origin of rhythmic behaviors

Autor: Giambattista Giacomin, Christophe Poquet

Publikováno v: Braz. J. Probab. Stat. 29, no. 2 (2015), 460-493
Brazilian Journal of Probability and Statistics
Brazilian Journal of Probability and Statistics, 2015, 29 (2), pp.460-493. ⟨10.1214/14-BJPS258⟩
Brazilian Journal of Probability and Statistics, São Paulo, SP : Associação Brasileira de Estatística, 2015, 29 (2), pp.460-493

International audience; Large families of noisy interacting units (cells, individuals, components in a circuit, ...) exhibiting synchronization often exhibit oscillatory behaviors too. This is a well established empirical observation that has attract

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30c2dfb41beda047dfb7cd161b6a3be4
https://doi.org/10.1214/14-bjps258

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