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Rett syndrome: a wide clinical and autonomic picture

Autor: P. Di Marco, Maria Flora Scusa, A Romanelli, Michele Zappella, P. Morescalchi, Laura Congiu, Giorgio Pini, Fabrizio Bianchi, Alessandra Ferlini, Alberto Benincasa, Stefania Bigoni, Daniela Tropea

Publikováno v: Orphanet Journal of Rare Diseases

Background Rett Syndrome is a neurodevelopmental disorder almost exclusively affecting females, characterized by a broad clinical spectrum of signs and symptoms and a peculiar course. The disease affects different body systems: nervous, muscolo-skele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90b56a2bc9e4391ef14bb7be55ebb0fe
https://doi.org/10.1186/s13023-016-0499-7

Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach

Autor: Marschik, Peter B, Lemcke, Sanne, Einspieler, Christa, Zhang, Dajie, Bölte, Sven, Townend, Gillian S, Lauritsen, Marlene B.

Publikováno v: Marschik, P B, Lemcke, S, Einspieler, C, Zhang, D, Bölte, S, Townend, G S & Lauritsen, M B 2018, ' Early development in Rett syndrome-the benefits and difficulties of a birth cohort approach ', Developmental Neurorehabilitation, vol. 21, no. 1, pp. 68-72 . https://doi.org/10.1080/17518423.2017.1323970
Developmental Neurorehabilitation, 21(1), 68-72. Routledge/Taylor & Francis Group
Developmental Neurorehabilitation

PURPOSES: Typically, early (pre-diagnostic) development in individuals later diagnosed with Rett syndrome (RTT) has been investigated retrospectively using parent reports, medical records and analysis of home videos. In recent years, prospective rese

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::08728aa7debe0716e0fd2920637a7e9e
https://vbn.aau.dk/ws/files/286104509/Early_development_in_Rett_syndrome_the_benefits_and_difficulties_of_a_birth_cohort_approach.pdf

Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome

Autor: Claudio De Felice, Thierry Durand, Francesco Scalabrì, Silvia Leoncini, Stefania Filosa, Lucia Ciccoli, Jacky Guy, Floriana Della Ragione, Alexandre Guy, Camille Oger, Bianca De Filippis, Jean-Marie Galano, Laura Ricceri, Joussef Hayek, Giovanni Laviola, Giuseppe Valacchi, Cinzia Signorini, Federico Marracino, Giuseppe Belmonte, Michele Madonna, Maurizio D'Esposito, Alessandra Pecorelli, Valérie Bultel-Poncé

Publikováno v: Neurobiology of Disease
Neurobiology of Disease, Elsevier, 2014, 68, pp.66-77. ⟨10.1016/j.nbd.2014.04.006⟩
Neurobiology of Disease, Vol 68, Iss, Pp 66-77 (2014)
Neurobiology of disease 68 (2014): 66–77. doi:10.1016/j.nbd.2014.04.006
info:cnr-pdr/source/autori:De Felice C.; Della Ragione F.; Signorini C.; Leoncini S.; Pecorelli A.; Ciccoli L.; Scalabri F.; Marracino F.; Madonna M.; Belmonte G.; Ricceri L.; De Filippis B.; Laviola G.; Valacchi G.; Durand T.; Galano J.-M.; Oger C.; Guy A.; Bultel-Ponce V.; Guy J.; Filosa S.; Hayek J.; D'Esposito M./titolo:Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome/doi:10.1016%2Fj.nbd.2014.04.006/rivista:Neurobiology of disease/anno:2014/pagina_da:66/pagina_a:77/intervallo_pagine:66–77/volume:68

Rett syndrome (RTT) is a rare neurodevelopmental disorder affecting almost exclusively females, caused in the overwhelming majority of the cases by loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). High circulating

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a02b3097fee569bc3aeeeef210ad36a
http://europepmc.org/articles/PMC4076513