Works matching DE "RETT syndrome"

Results: 1136

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2 (Communicated by Jurgen Horst) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/humanmutation/suppmat/2003/v22.html).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 107, doi. 10.1002/humu.10243

By:

Gabriel Miltenberger-Miltenyi;
Franco Laccone

Publication type:

Article

Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome (Communicated by Haig H. Kazazian).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 116, doi. 10.1002/humu.10242

By:

E. Schollen;
E. Smeets;
E. Deflem;
J.P. Fryns;
G. Matthijs

Publication type:

Article

Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndromeCommunicated by Haig H. Kazazian.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 116, doi. 10.1002/humu.10242

By:

E. Schollen;
E. Smeets;
E. Deflem;
J.P. Fryns;
G. Matthijs

Publication type:

Article

Mutations and polymorphisms in the human methyl CpG?binding protein MECP2Communicated by Jurgen HorstThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/humanmutation/suppmat/2003/v22.html.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 107, doi. 10.1002/humu.10243

By:

Gabriel Miltenberger?Miltenyi;
Franco Laccone

Publication type:

Article

RettBASE: The IRSA MECP2 variation databasea new mutation database in evolution (Communicated by Jaime Cuticchia).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 466, doi. 10.1002/humu.10194

By:

John Christodoulou;
Andrew Grimm;
Tony Maher

Publication type:

Article

RettBASE: The IRSA MECP2 variation database—a new mutation database in evolutionCommunicated by Jaime Cuticchia.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 466, doi. 10.1002/humu.10194

By:

John Christodoulou;
Andrew Grimm;
Tony Maher;
Bruce Bennetts

Publication type:

Article

Annual Injection of Zoledronic Acid Improves Bone Status in Children with Cerebral Palsy and Rett Syndrome.

Published in:

2019

By:

Wiedemann, Arnaud;
Renard, Emeline;
Hernandez, Magali;
Dousset, Brigitte;
Brezin, François;
Lambert, Laetitia;
Weryha, Georges;
Feillet, François

Publication type:

journal article

A Comparative Study of Dual-X-ray Absorptiometry and Quantitative Ultrasonography for the Evaluating Bone Status in Subjects with Rett Syndrome.

Published in:

Calcified Tissue International, 2014, v. 95, n. 3, p. 248, doi. 10.1007/s00223-014-9888-x

By:

Caffarelli, C.;
Hayek, J.;
Pitinca, M.;
Nuti, R.;
Gonnelli, S.

Publication type:

Article

Pathology of perinatal brain damage: background and oxidative stress markers.

Published in:

Archives of Gynecology & Obstetrics, 2014, v. 290, n. 1, p. 13, doi. 10.1007/s00404-014-3208-6

By:

Tonni, Gabriele;
Leoncini, Silvia;
Signorini, Cinzia;
Ciccoli, Lucia;
Felice, Claudio

Publication type:

Article

Microglia as a critical player in both developmental and late-life CNS pathologies.

Published in:

Acta Neuropathologica, 2014, v. 128, n. 3, p. 333, doi. 10.1007/s00401-014-1321-z

By:

Derecki, Noël;
Katzmarski, Natalie;
Kipnis, Jonathan;
Meyer-Luehmann, Melanie

Publication type:

Article

Neurotrophic effects of Cerebrolysin in the Mecp2<sup>308/Y</sup> transgenic model of Rett syndrome.

Published in:

Acta Neuropathologica, 2008, v. 116, n. 4, p. 425, doi. 10.1007/s00401-008-0407-x

By:

Doppler, Edith;
Rockenstein, Edward;
Ubhi, Kiren;
Inglis, Chandra;
Mante, Michael;
Adame, Anthony;
Crews, Leslie;
Hitzl, Monika;
Moessler, Herbert;
Masliah, Eliezer

Publication type:

Article

Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice.

Published in:

Nature, 2015, v. 526, n. 7573, p. 430, doi. 10.1038/nature15694

By:

Hao, Shuang;
Tang, Bin;
Wu, Zhenyu;
Ure, Kerstin;
Sun, Yaling;
Tao, Huifang;
Gao, Yan;
Patel, Akash J.;
Curry, Daniel J.;
Samaco, Rodney C.;
Zoghbi, Huda Y.;
Tang, Jianrong

Publication type:

Article

Cognitive disorders: Deep brain stimulation for Rett syndrome.

Published in:

Nature, 2015, v. 526, n. 7573, p. 331, doi. 10.1038/526331a

By:

Cobb, Stuart R.

Publication type:

Article

Corrigendum: Wild-type microglia do not reverse pathology in mouse models of Rett syndrome.

Published in:

2015

By:

Wang, Jieqi;
Wegener, Jan Eike;
Huang, Teng-Wei;
Sripathy, Smitha;
De Jesus-Cortes, Hector;
Xu, Pin;
Tran, Stephanie;
Knobbe, Whitney;
Leko, Vid;
Britt, Jeremiah;
Starwalt, Ruth;
McDaniel, Latisha;
Ward, Chris S.;
Parra, Diana;
Newcomb, Benjamin;
Lao, Uyen;
Nourigat, Cynthia;
Flowers, David A.;
Cullen, Sean;
Jorstad, Nikolas L.

Publication type:

Correction Notice

Disruption of DNA-methylation-dependent long gene repression in Rett syndrome.

Published in:

Nature, 2015, v. 522, n. 7554, p. 89, doi. 10.1038/nature14319

By:

Gabel, Harrison W.;
Kinde, Benyam;
Stroud, Hume;
Gilbert, Caitlin S.;
Harmin, David A.;
Kastan, Nathaniel R.;
Hemberg, Martin;
Ebert, Daniel H.;
Greenberg, Michael E.

Publication type:

Article

Wild-type microglia arrest pathology in a mouse model of Rett syndrome.

Published in:

Nature, 2012, v. 484, n. 7392, p. 105, doi. 10.1038/nature10907

By:

Derecki, Noël C.;
Cronk, James C.;
Lu, Zhenjie;
Xu, Eric;
Abbott, Stephen B. G.;
Guyenet, Patrice G.;
Kipnis, Jonathan

Publication type:

Article

Defining Autism Spectrum Disorders.

Published in:

2009

By:

Phetrasuwan S;
Miles MS;
Mesibov GB;
Robinson C

Publication type:

Journal Article

Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa-Decarboxylase Inhibitor.

Published in:

Neuropsychopharmacology, 2014, v. 39, n. 12, p. 2846, doi. 10.1038/npp.2014.136

By:

Szczesna, Karolina;
de la Caridad, Olga;
Petazzi, Paolo;
Soler, Marta;
Roa, Laura;
Saez, Mauricio A;
Fourcade, Stéphane;
Pujol, Aurora;
Artuch-Iriberri, Rafael;
Molero-Luis, Marta;
Vidal, August;
Huertas, Dori;
Esteller, Manel

Publication type:

Article

Pharmacological Stimulation of the Brain Serotonin Receptor 7 as a Novel Therapeutic Approach for Rett Syndrome.

Published in:

Neuropsychopharmacology, 2014, v. 39, n. 11, p. 2506, doi. 10.1038/npp.2014.105

By:

De Filippis, Bianca;
Nativio, Paola;
Fabbri, Alessia;
Ricceri, Laura;
Adriani, Walter;
Lacivita, Enza;
Leopoldo, Marcello;
Passarelli, Francesca;
Fuso, Andrea;
Laviola, Giovanni

Publication type:

Article

The Impact of MeCP2 Loss- or Gain-of-Function on Synaptic Plasticity.

Published in:

Neuropsychopharmacology, 2013, v. 38, n. 1, p. 212, doi. 10.1038/npp.2012.116

By:

Na, Elisa S;
Nelson, Erika D;
Kavalali, Ege T;
Monteggia, Lisa M

Publication type:

Article

Modulation of RhoGTPases Improves the Behavioral Phenotype and Reverses Astrocytic Deficits in a Mouse Model of Rett Syndrome.

Published in:

Neuropsychopharmacology, 2012, v. 37, n. 5, p. 1152, doi. 10.1038/npp.2011.301

By:

De Filippis, Bianca;
Fabbri, Alessia;
Simone, Daiana;
Canese, Rossella;
Ricceri, Laura;
Malchiodi-Albedi, Fiorella;
Laviola, Giovanni;
Fiorentini, Carla

Publication type:

Article

CRISPR/Cas9 genome editing clinical trials for neurodevelopmental disorders.

Published in:

2024

By:

Abdelmoula, B.;
Bouayed Abdelmoula, N.

Publication type:

Abstract

Rett syndrome in adults with severe intellectual disability: Exploration of behavioral characteristics

Published in:

European Psychiatry, 2008, v. 23, n. 6, p. 460, doi. 10.1016/j.eurpsy.2007.11.008

By:

Matson, Johnny L.;
Dempsey, Timothy;
Wilkins, Jonathan

Publication type:

Article

Correlation Between Dysphagia and Malocclusion in Rett Syndrome: A preliminary study.

Published in:

Sultan Qaboos University Medical Journal, 2018, v. 18, n. 4, p. e489, doi. 10.18295/squmj.2018.18.04.010

By:

Cocca, Serena;
Viviano, Massimo;
Loglisci, Michele;
Parrini, Stefano;
Monciatti, Giovanni;
Paganelli, Ilaria I.;
Livi, Walter;
Mezzedimi, Chiara

Publication type:

Article

Kronične promjene plućnog parenhima u djevojčice s Rettovim sindromom.

Published in:

Paediatria Croatica, 2020, v. 64, n. 3, p. 207, doi. 10.13112/pc.418

By:

Šalig, Sanela;
Batoš, Ana Tripalo;
Bogović, Jasna Čepin;
Đuranović, Vlasta;
Jadrešin, Oleg;
Pavić, Ivan

Publication type:

Article

Distinctive phenotype in a girl with Rett syndrome and a novel 25 bp deletion mutation in exon 4 (c.881_905del25, nm_004992.3) of the MECP2 gene.

Published in:

2014

By:

Katavić, Matej;
Kukuruzović, Monika;
Malenica, Maša;
Seneca, Sara;
Cvitanović-Šojat, Ljerka

Publication type:

Case Study

Co-Occurring Methylenetetrahydrofolate Reductase (MTHFR) rs1801133 and rs1801131 Genotypes as Associative Genetic Modifiers of Clinical Severity in Rett Syndrome.

Published in:

Brain Sciences (2076-3425), 2024, v. 14, n. 7, p. 624, doi. 10.3390/brainsci14070624

By:

Singh, Jatinder;
Wilkins, Georgina;
Goodman-Vincent, Ella;
Chishti, Samiya;
Bonilla Guerrero, Ruben;
McFadden, Leighton;
Zahavi, Zvi;
Santosh, Paramala

Publication type:

Article

Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials.

Published in:

Brain Sciences (2076-3425), 2024, v. 14, n. 2, p. 120, doi. 10.3390/brainsci14020120

By:

Lopes, Adele Gaspar;
Loganathan, Sampath Kumar;
Caliaperumal, Jayalakshmi

Publication type:

Article

Functional Network Mapping Reveals State-Dependent Response to IGF1 Treatment in Rett Syndrome.

Published in:

Brain Sciences (2076-3425), 2020, v. 10, n. 8, p. 515, doi. 10.3390/brainsci10080515

By:

Keogh, Conor;
Pini, Giorgio;
Gemo, Ilaria;
Kaufmann, Walter E.;
Tropea, Daniela

Publication type:

Article

Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review.

Published in:

Brain Sciences (2076-3425), 2020, v. 10, n. 7, p. 410, doi. 10.3390/brainsci10070410

By:

Fonzo, Marta;
Sirico, Felice;
Corrado, Bruno

Publication type:

Article

Effects of Combined Transcranial Direct Current Stimulation with Cognitive Training in Girls with Rett Syndrome.

Published in:

Brain Sciences (2076-3425), 2020, v. 10, n. 5, p. 276, doi. 10.3390/brainsci10050276

By:

Fabio, Rosa Angela;
Gangemi, Antonio;
Semino, Martina;
Vignoli, Aglaia;
Priori, Alberto;
Canevini, Maria Paola;
Di Rosa, Gabriella;
Caprì, Tindara

Publication type:

Article

Boosting Serotonin Synthesis Is Not Sufficient to Improve Motor Coordination of Mecp2 Heterozygous Mouse Model of Rett Syndrome.

Published in:

Biomolecules (2218-273X), 2024, v. 14, n. 10, p. 1230, doi. 10.3390/biom14101230

By:

Villani, Claudia;
Sacchetti, Giuseppina;
Invernizzi, Roberto W.

Publication type:

Article

Metformin Induces MeCP2 in the Hippocampus of Male Mice with Sex-Specific and Brain-Region-Dependent Molecular Impact.

Published in:

Biomolecules (2218-273X), 2024, v. 14, n. 4, p. 505, doi. 10.3390/biom14040505

By:

Arezoumand, Khatereh Saei;
Roberts, Chris-Tiann;
Rastegar, Mojgan

Publication type:

Article

Blood–Brain Barrier Integrity Is Perturbed in a Mecp2 -Null Mouse Model of Rett Syndrome.

Published in:

Biomolecules (2218-273X), 2023, v. 13, n. 4, p. 606, doi. 10.3390/biom13040606

By:

Pepe, Giuseppe;
Fioriniello, Salvatore;
Marracino, Federico;
Capocci, Luca;
Maglione, Vittorio;
D'Esposito, Maurizio;
Di Pardo, Alba;
Della Ragione, Floriana

Publication type:

Article

Aberrantly High Levels of Somatic LINE-1 Expression and Retrotransposition in Human Neurological Disorders.

Published in:

Frontiers in Genetics, 2020, v. 10, p. 1, doi. 10.3389/fgene.2019.01244

By:

Terry, Diane M.;
Devine, Scott E.

Publication type:

Article

Efficient and Precise CRISPR/Cas9-Mediated MECP2 Modifications in Human-Induced Pluripotent Stem Cells.

Published in:

Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00625

By:

Le, Thi Thanh Huong;
Tran, Ngoc Tung;
Dao, Thi Mai Lan;
Nguyen, Dinh Dung;
Do, Huy Duong;
Ha, Thi Lien;
Kühn, Ralf;
Nguyen, Thanh Liem;
Rajewsky, Klaus;
Chu, Van Trung

Publication type:

Article

Beyond Pathway Analysis: Identification of Active Subnetworks in Rett Syndrome.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00059

By:

Miller, Ryan A.;
Ehrhart, Friederike;
Eijssen, Lars M. T.;
Slenter, Denise N.;
Curfs, Leopold M. G.;
Evelo, Chris T.;
Willighagen, Egon L.;
Kutmon, Martina

Publication type:

Article

Child and adolescent psychiatric genetics.

Published in:

European Child & Adolescent Psychiatry, 2010, v. 19, n. 3, p. 259, doi. 10.1007/s00787-010-0091-y

By:

Hebebrand, Johannes;
Scherag, Andre;
Schimmelmann, Benno G.;
Hinney, Anke

Publication type:

Article

MECP2 mutation screening in Swedish classical Rett syndrome females.

Published in:

European Child & Adolescent Psychiatry, 2001, v. 10, n. 2, p. 117, doi. 10.1007/s007870170034

By:

Erlandson, A.;
Hallberg, B.;
Hagberg, B.;
Wahlström, J.;
Martinsson, T.

Publication type:

Article

Assessing the developmental level in Rett syndrome: an alternative approach?

Published in:

European Child & Adolescent Psychiatry, 2000, v. 9, n. 3, p. 227, doi. 10.1007/s007870070047

By:

Demeter, K.

Publication type:

Article

Rett syndrome, EEG and the motor cortex as a model for better understanding of attention deficit hyperactivity disorder (ADHD).

Published in:

European Child & Adolescent Psychiatry, 1998, v. 7, n. 2, p. 69, doi. 10.1007/s007870050049

By:

Niedermeyer, E.;
Naidu, S. B.

Publication type:

Article

Lamotrigine in Rett syndrome: Treatment experience from a pilot study.

Published in:

European Child & Adolescent Psychiatry, 1998, v. 7, n. 1, p. 49, doi. 10.1007/s007870050045

By:

Stenbom, Y.;
Tonnby, B.;
Hagberg, B.

Publication type:

Article

Hyperkalemic distal renal tubular acidosis associated with Rett syndrome.

Published in:

Pediatric Nephrology, 2006, v. 21, n. 4, p. 588, doi. 10.1007/s00467-006-0029-2

By:

Assadi, Farahnak;
Crowe, Colleen;
Rouhi, Omid

Publication type:

Article

Oral parafunction and bruxism in Rett syndrome and associated factors: An observational study.

Published in:

Oral Diseases, 2023, v. 29, n. 1, p. 220, doi. 10.1111/odi.13924

By:

Lai, Yvonne Yee Lok;
Downs, Jenny Anne;
Wong, Kingsley;
Zafar, Sobia;
Walsh, Laurence James;
Leonard, Helen Margaret

Publication type:

Article

Buffering of transcription rate by mRNA half-life is a conserved feature of Rett syndrome models.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37339-6

By:

Rodrigues, Deivid C.;
Mufteev, Marat;
Yuki, Kyoko E.;
Narula, Ashrut;
Wei, Wei;
Piekna, Alina;
Liu, Jiajie;
Pasceri, Peter;
Rissland, Olivia S.;
Wilson, Michael D.;
Ellis, James

Publication type:

Article

GlyT2-Dependent Preservation of MECP2-Expression in Inhibitory Neurons Improves Early Respiratory Symptoms but Does Not Rescue Survival in a Mouse Model of Rett Syndrome.

Published in:

Frontiers in Physiology, 2016, p. 1, doi. 10.3389/fphys.2016.00385

By:

Hülsmann, Swen;
Mesuret, Guillaume;
Dannenberg, Julia;
Arnoldt, Mauricio;
Niebert, Marcus

Publication type:

Article

Thyroid Function in Rett Syndrome.

Published in:

Hormone Research in Paediatrics, 2015, v. 83, n. 2, p. 118, doi. 10.1159/000370066

By:

Stagi, Stefano;
Cavalli, Loredana;
Congiu, Laura;
Scusa, Maria Flora;
Ferlini, alessandra;
Bigoni, Stefania;
Benincasa, alberto;
Rossi, Bruno;
Pini, Giorgio

Publication type:

Article

Neuronal Network Activation Induced by Forniceal Deep Brain Stimulation in Mice.

Published in:

Genes, 2025, v. 16, n. 2, p. 210, doi. 10.3390/genes16020210

By:

Tang, Bin;
Wu, Zhenyu;
Wang, Qi;
Tang, Jianrong

Publication type:

Article

Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex.

Published in:

Genes, 2024, v. 15, n. 12, p. 1653, doi. 10.3390/genes15121653

By:

Dominguez, Gaea;
Wu, Yongji;
Zhou, Jian

Publication type:

Article

The Newborn Screening Programme Revisited: An Expert Opinion on the Challenges of Rett Syndrome.

Published in:

Genes, 2024, v. 15, n. 12, p. 1570, doi. 10.3390/genes15121570

By:

Singh, Jatinder;
Santosh, Paramala

Publication type:

Article