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Rett syndrome

Rett syndrome severity estimation with the BioStamp nPoint using interactions between heart rate variability and body movement

Pradyumna Byappanahalli Suresha, Heather O’Leary, Daniel C. Tarquinio, Jana Von Hehn, Gari D. Clifford

published 01 Mar 2023

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Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome

Santosh Thapa, Alamelu Venkatachalam, Nabeel Khan, Mohammed Naqvi, Miriam Balderas, Jessica K. Runge, Anthony Haag, Kathleen M. Hoch, Daniel G. Glaze, Ruth Ann Luna, Kathleen J. Motil

published 06 May 2021

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Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility

Anne-Sophie Lambert, Anya Rothenbuhler, Perrine Charles, Sylvie Brailly-Tabard, Séverine Trabado, Elisabeth Célestin, Emmanuel Durand, Isabelle Fontaine, Lotfi Miladi, Philippe Wicart, Nadia Bahi-Buisson, Agnès Linglart

published 26 Oct 2017

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Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome

Christopher S. Ward, Teng-Wei Huang, José A. Herrera, Rodney C. Samaco, Meagan R. Pitcher, Alan Herron, Steven A. Skinner, Walter E. Kaufmann, Daniel G. Glaze, Alan K. Percy, Jeffrey L. Neul

published 09 Nov 2016

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Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations

Alison A. Williams, Vera J. Mehler, Christina Mueller, Fernando Vonhoff, Robin White, Carsten Duch

published 21 Jul 2016

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Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands

Carlos Bueno, Rafael Tabares-Seisdedos, Jose M. Moraleda, Salvador Martinez

published 11 Apr 2016

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MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome

Cinzia Signorini, Claudio De Felice, Silvia Leoncini, Rikke S. Møller, Gloria Zollo, Sabrina Buoni, Alessio Cortelazzo, Roberto Guerranti, Thierry Durand, Lucia Ciccoli, Maurizio D’Esposito, Kirstine Ravn, Joussef Hayek

published 01 Mar 2016

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Validating the Rett Syndrome Gross Motor Scale

Jenny Downs, Michelle Stahlhut, Kingsley Wong, Birgit Syhler, Anne-Marie Bisgaard, Peter Jacoby, Helen Leonard

published 22 Jan 2016

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Characterization of the MeCP2^R168X Knockin Mouse Model for Rett Syndrome

Eike Wegener, Cornelia Brendel, Andre Fischer, Swen Hülsmann, Jutta Gärtner, Peter Huppke

published 26 Dec 2014

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Gait Analysis in a Mecp2 Knockout Mouse Model of Rett Syndrome Reveals Early-Onset and Progressive Motor Deficits

Kamal K. E. Gadalla, Paul D. Ross, John S. Riddell, Mark E. S. Bailey, Stuart R. Cobb

published 13 Nov 2014

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Gait Initiation in Children with Rett Syndrome

Ioannis Ugo Isaias, Mariangela Dipaola, Marlies Michi, Alberto Marzegan, Jens Volkmann, Marina L. Rodocanachi Roidi, Carlo Albino Frigo, Paolo Cavallari

published 17 Apr 2014

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Network Models Predict that Reduced Excitatory Fluctuations Can Give Rise to Hippocampal Network Hyper-Excitability in MeCP2-Null Mice

Ernest C. Y. Ho, James H. Eubanks, Liang Zhang, Frances K. Skinner

published 18 Mar 2014

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Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

Sofia Temudo Duarte, Judith Armstrong, Ana Roche, Carlos Ortez, Ana Pérez, Maria del Mar O’Callaghan, Antonina Pereira, Francesc Sanmartí, Aida Ormazábal, Rafael Artuch, Mercedes Pineda, Angels García-Cazorla

published 19 Jul 2013

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