Autori:

Bruria Ben-Zeev, Andreea Nissenkorn, Timor Baasov, Meytal Shohat, Rinat Sack, Shmuel Tuvia and Chaya Brodie

Abstract:

Evaluating the effect of new readthrough drugs using a novel in vitro Rett Syndrome system, human neural cells carrying MeCP2 nonsense mutations

Autori:

Bruria Ben Zeev, Amotz Ziv-Av, Shirtai Holtz, Simona Cazacu, Hae Kyung Lee, Cunli Xiang, Andreea Nissenkornm1, Gila Kazimirsky and Chaya Brodie

Abstract:

Novel human Rett syndrome in vitro models demonstrate differential impact of specific MeCP2 mutations on neuronal functions and the non-cell autonomous effects of glial cells

Autori:

Sara Cimini, Eleonora Calcagno, Annamaria Castaldo, Grazia Della Sala, Elena Putignano, Tommaso Pizzorusso, Maurizio Giustetto e Tiziana Borsello

Abstract:

The cell-permeable JNK inhibitor peptide (D-JNKI1) prevents motor defects and preserves dendritic spines in Mecp2 and CDKL5 mice models

Autori:

De Filippis, Bianca, Ricceri, Laura, Laviola, Giovanni

Abstract:

TARGETING BRAIN RHO GTPASES IN RETT SYNDROME: PRECLINICAL EVIDENCE OF THERAPEUTIC EFFECTS

Autori:

F. Della Ragione, S. Fioriniello, C. Zarrillo, M.R. Matarazzo, M. D’Esposito

Abstract:

MeCP2 is required for major satellite forward transcript recruitment at pericentric heterochromatin during neural differentiation

Autori:

G.Della Sala, E. Putignano, G. Chelini, R. Melani, E. Calcagno, G.M. Ratto, E. Amendola, C. T. Gross, M. Giustetto, T. Pizzorusso

Abstract:

Dendritic Spine Instability in a Mouse Model of CDKL5 Disorder is rescued by IGF-1

Autori:

Cervellati C, Sticozzi C, Romani A, Belmonte G, De Rasmo D, Signorile A,Cervellati F, Milanese C, Mastroberardino PG, Pecorelli A, Hayek J, Valacchi G.

Abstract:

Impaired enzymatic defensive activity, mitochondrial dysfunction and proteasome activation are involved in RTT cell oxidative damage

Autori:

Joussef Hayek, Alessio Cortelazzo, Roberto Guerranti, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Francesco Scalabrì, Michele Madonna, Stefania Filosa, Cinzia Della Giovampaola, Antonietta Capone, Thierry Durand, Cristiana Mirasole, Lello Zolla, Giuseppe Valacchi, Lucia Ciccoli, Jacky Guy, Maurizio D’Esposito, Claudio De Felice

Poster:

N-glycosylation pattern changes for brain NPP-5 in Mecp2-mutant murine models of Rett syndrome

Autori:

Martha V. Koerner, Jim Selfridge and Adrian P. Bird

Abstract:

A mouse model of neuronal-specific MeCP2 overexpression

Autori:

Matagne V, Villard L, Roux JC.

Poster:

Improvement in Rett syndrome-like symptoms in Mecp2-deficient male and female miceafter administration of a self-complementary AAV9 (scAAV9) construct expressing a codonoptimized Mecp2 transgene

Autori:

Oliwia A. Janc, Marc Hüser, Karolina Can, Belinda Kempkes, and Michael Müller

Abstract:

In vivo treatment of Mecp2-/y mice with the radical scavenger Trolox

Autori:

Ralph D. Hector, Andrew McCracken, Mark E.S. Bailey, Stuart R. Cobb

Abstract:

MECP2 gene therapy for Rett syndrome: adding regulation

Autori:

Sarah Schock, George Wahba, William Staines, David Grynspan

Abstract:

Gastrointestinal dysmotility in a mouse model of Rett syndrome

Autori:

Tongiorgi Enrico; Bittolo Tamara, Raminelli Carlo Antonio, Deiana Chiara, Baj Gabriele, Vaghi Valentina, Ferrazzo Sara, Bernareggi Annalisa

Abstract:

Pharmacological treatment with Mirtazapine rescues cortical atrophy and respiratory deficits in MeCP2 null mice

Autori:

Maria Luisa Tutino, Gennaro Antonio Apuzzo, Andrea Colarusso, Alessia Fabbri, Ermenegilda Parrilli, Bianca De Filippis, Laura Ricceri, Neus Ferrer Miralles, Giovanni Laviola, and Carla Fiorentini

Abstract:

Construction of CNF1 autoassembling variants endowed with blood-brain barrier crossing ability: an innovative therapeutic approach for RTT

Autori:

Valeria Citarella, Filomena Sannino, Ermenegilda Parrilli, and Maria Luisa Tutino

Abstract:

Full-length recombinant production of human CDKL5 protein in Antarctic marine bacterium Pseudoalteromonas haloplanktis

Autori:

Yann Ehinger, Lydia Saidi, Valérie Matagne, Julie Bruyère, Frederic Saudou, Laurent Villard, Jean-Christophe Roux

Abstract:

Phosphorylation of huntingtin at Ser421 modulates the phenotype of the Mecp2 deficient mice

Autori:

Alari Valentina, Cogliati Francesca, Tiziana Borsello, Lidia Larizza, Silvia Russo

Poster:

Investigating MeCP2 and JNK3 reciprocal regulation in human cellular models for Rett syndrome

Autori:

De Filippis Bianca, Musto Mattia, Altabella Luisa, Romano Emilia, Canese Rossella, Laviola Giovanni

Poster:

Deficient purposeful use of forepaws in female mice modelling Rett syndrome

Autori:

Claudia Fuchs, Rocchina Viggiano, Norma Fustini, Stefania Trazzi, Marianna De Franceschi, Renata Bartesaghi, Elisabetta Ciani

Poster:

GSK3-beta inhibitors: a promising strategy for the CDKL5 variant of Rett Syndrome

Autori:

Jim Selfridge, Kyla Brown, Sabine Lagger, John Connelly, Dina De Sousa, Alastair Kerr, Shaun, Webb, Jacky Guy, Cara Merusi, Martha V. Koerner and Adrian Bird

Poster:

Mouse models of common Rett syndrome mutations recapitulate the severity seen inpatients

Autori:

Anne-Marie Bisgaard, Bitten Schönewolf-Greulich, Birgit Syhler, Michelle Stahlhut

Abstract:

Can girls with Rett syndrome (re)learn gross motor skills after regression?

Autori:

Maria Esposito, Francesco Precenzano, Valentina Lanzara, Marco Carotenuto

Poster:

Nocturnal alterations in Rett syndrome: a polysomnographic study

Autori:

Masayuki Itoh, Shin Nabatame, Hisateru Tachimori, Toyojiro Matsuishi

Abstract:

Study of Rett syndrome epidemiology and database in Japan

Autori:

Savini MN, Vignoli A, Nowbut MS, Peron A, Turner K, La Briola F, Canevini MP

Abstract:

Efficacy and tolerability of antiepileptic drugs in 104 girls with Rett syndrome

Autori:

Joussef Hayek, Silvia Leoncini, Cinzia Signorini, Thierry Durand, Jean-Marie Galano, Camille Oger, Jetty Chung-Yung Lee, Gloria Zollo, Alessio Cortelazzo, Roberto Guerranti, Lucia Ciccoli, Claudio De Felice

Poster:

Abnormal adipocyte-derived hormones in Rett syndrome mirroring chronic oxidative stress and inflammation: effects of ω-3 PUFAs

Autori:

Joussef Hayek, Martina Zevolini, Bruno Natale, Cinzia Signorini, Silvia Leoncini, Vincenzo Baranella, Gloria Zollo, Lucia Ciccoli, Jean-Marie Galano, Camille Oger, Thierry Durand, Claudio De Felice

Poster:

Abnormal visual evoked potentials, eye misalignment and visual acuity deficit in Rett syndrome: relationship with myelin oxidative damage

Autori:

Joussef Hayek, Lucia Ciccoli, Eugenio Paccagnini, Mariangela Gentile, Silvia Leoncini, Cinzia Signorini, Gloria Zollo, Alessio Cortelazzo, Claudio De Felice

Poster:

Abnormal erythrocyte morphology in CDKL5 Rett syndrome

Autori:

Joussef Hayek, Alessio Cortelazzo, Alessandro Armini, Luca Bini, Silvia Leoncini, Cinzia Signorini, Roberto Guerranti, Lucia Ciccoli, Claudio De Felice

Poster:

Biochemical characteristics of inflammation in CDKL5-Rett syndrome: plasma protein patterns and effects of ω-3 PUFAs

Autori:

Joussef Hayek, Silvia Leoncini, Cinzia Signorini, Gloria Zollo, Alessio Cortelazzo, Thierry Durand, Jean-Marie Galano, Roberto Guerranti, Lucia Ciccoli, Claudio De Felice

Poster:

Cytokine Dysregulation in MECP2- and CDKL5-Rett Syndrome

Autori:

Joussef Hayek, Moraika Riggi, Francesca Cardinali, Silvia Leoncini, Cinzia Signorini, Alessio Cortelazzo, Gloria Zollo, Lucia Ciccoli, Claudio De Felice

Poster:

Dietary habits in Rett syndrome

Autori:

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

Poster:

Oxidative stress in MECP2 duplication syndrome

Autori:

Joussef Hayek, Cinzia Signorini, Silvia Leoncini, Alessio Cortelazzo, Gloria Zollo, Thierry Durand, Jean-Marie Galano, Camille Oger, Jetty Chung-Yung Lee, Jean-Yves Le Guennec, Silvia Maffei, Alessandra Pecorelli, Giuseppe Valacchi, Lucia Ciccoli, Claudio De Felice

Poster:

Unexplained sudden death in Rett syndrome: protective effect of ω-3 PUFAs

Autori:

G.Gagliardini, M.Traverso, T. Giacomini, S. Uccella, M.Pintaudi, E.Veneselli

Poster:

SLEEP DISTURBANCE IN RETT SYNDROME

Autori:

Michele Germano

Poster:

MIDAZOLAM AS TREATMENT OF RECURRENT SEIZURES IN A CHILD WITH RETT SYNDROME

Autori:

Giacomini T, Pintaudi M, Mancardi MM, Traverso M, Gagliardini G, Uccella S, Napoli F, Di Iorgi N, Veneselli E

Poster:

GH deficiency and growth retardation in Rett syndrome

Autori:

Traverso M, Gagliardini G, Giacomini T, Uccella S, Pintaudi M, Pedemonte M, Mancardi M.M., Veneselli E

Poster:

CLINICAL SEVERITY AND MULTIDIMENSIONAL APPROACH IN RETT SYNDROME: TWO CASE REPORTS

Autori:

Hilde Breck

Poster:

The Preserved Speech variant

Autori:

C. Caffarelli, J. Hayek, R. Nuti, S. Gonnelli

Poster:

Recurrent fractures in a Rett patient treated with teriparatide

Autori:

C. Caffarelli, M.D. Tomai Pitinca, V. Francolini, J. Hayek, R. Nuti, S. Gonnelli

Poster:

The Influence of Mobility on Bone Status in Subjects with Rett Syndrome: a 10-Year Longitudinal Study

Autori:

Ahonniska-Assa, J., Silberg T., Pollak, O., Saraf, E., Wine, J., Nissenkorn, A., & Ben-Zeev, B.

Abstract:

Using Eye-tracking Technology in Assessing Receptive Language Skills among Girls with Rett Syndrome

Autori:

Romana Costagliola

Poster:

Water rehabilitation in Rett Syndrome

Autori:

Fabio R.A., Magaudda C., Falzone A.M., Caprì T., Carrozza C., Towey G., Cedro C

Poster:

Consistency of Choice Behavior in Rett syndrome

Autori:

Gillian S. Townend, Eric Smeets, Raymond van de Berg, Mariёlle van den Berg, Dick van Waardenburg & Leopold M.G. Curfs

Abstract:

Eye gaze technology as a form of augmentative and alternative communication support for individuals with Rett syndrome: experiences of families in the Netherlands

Autori:

Gillian Townend, Theresa Bartolotta, Sally-Ann Garrett, Anna Urbanowicz, Helena Wandin, Leopold Curfs

Poster:

Development of Clinical Guidelines for the Management of Communication in Individuals with Rett Syndrome

Autori:

Gillian S Townend, Katrin D Bartl-Pokorny, Jeff Sigafoos, Leopold M G Curfs, Sven Bölte, Luise Poustka,f, Christa Einspieler, Peter B Marschik

Poster:

Comparing Social Reciprocity in Preserved Speech Variant and Typical Rett Syndrome during the Early Years of Life

Autori:

Helena Wandin, Theresa Bartolotta, Sally-Ann Garrett, Anna Urbanowicz Gillian Townend

Abstract:

Tools for Assessment of Communication in Rett Syndrome

Autori:

Helena Wandin, Märith Bergström-Isacsson

Abstract:

Activities for interaction; examples of group activities with special focus on communcation with PODD (Pragmatic Organisation Dynamic Displays)

Autori:

Rosa Angela Fabio, Antonio Gangemi, Tindara Caprì, Alessandra Falzone

Abstract:

Neurophysiological and cognitive effects of Transcranial Direct Current Stimulation in Rett Syndrome with chronic language impairments

Autori:

Patricia Remshifski, Theresa Bartolotta

Abstract:

Eye tracking in Rett syndrome: A preliminary investigation of receptive and expressive vocabulary

Autori:

Florian B Pokorny, Katrin D Bartl-Pokorny, Dajie Zhang, Ralf Vollmann, Christa Einspieler, Peter B Marschik

Abstract:

Typical or Atypical? The Intermittent Character of Early Vocalizations in the Preserved Speech Variant

Autori:

Bitten Schönewolf-Greulich, Anne-Marie Bisgaard

Poster:

Investigation of mutation types in Rett syndrome in Denmark

Autori:

Brandi Tarrau NM, Gerotina Mora E, Vidal Falcó S, Ortez González CI, García Cazorla A, Gean Molins E, Pineda Marfa M, Armstrong Morón J

Poster:

GENETIC DIAGNOSIS OF PATIENTS WITH OVERLAPPING CLINIC RETT-LIKE BY NGS

Autori:

Daniela Zahorakova, Alice Baxova, Vladimir Gregor, Martina Langová, Martin Magner, Zumrova Alena, Pavel Martasek

Poster:

Novel MECP2 mutations in Czech patients with Rett syndrome

Autori:

Gerotina Mora E, Brandi Tarrau NM, Vidal Falcó S, O’Callaghan Gordo MM, Garcia-Cazorla A, Pineda Marfa M, Armstrong Morón J

Poster:

Our experience in genetic diagnosis of Rett syndrome by Next Generation Sequencing

Autori:

Ilaria Meloni, Elisa Landucci, Laura Bianciardi, Sonia Amabile, Simone Furini, Flora Vaccarino, Valentina Imperatore, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Elisa Frullanti, Francesca Ariani, Alessandra Renieri

Poster:

RNA sequencing analysis in iPSCs derived Rett neurons

Autori:

Qingping Zhang, Ying Zhao, Xiaoying Zhang, Xiru Wu, Xinhua Bao

Poster:

Familial Cases with MECP2 Mutations

Autori:

Vidal Falcó S, Blasco Pérez L, Gean Molins E, del Campo Casanelles M, Català Cahís V, Guillén E, Lapunzina P, Lloveras E, Maortua H, Martinez Castellano F, Mesas Aróstegui A, Nevado J6, Obón Ferrer M, Orellana Alonso C, Plaja A, Roselló Piera M, Tejada M I, Tizzano E, Armstrong Morón J

Poster:

MECP2 Duplication: genetic and clinical study in Spanish patients

Autori:

Vidal Falcó S, Lucariello M, Vidal Ocabo, Brandi Tarrau NM, Gerotina Mora E, Esteller Badosa M, Pineda Marfa M, Armstrong Morón J

Poster:

Discovery of new genes in Rett syndrome patients by WES