Works matching DE "RETT syndrome"

Results: 1323

The effect of low magnitude mechanical stimulation (LMMS) on bone density in patients with Rett syndrome: A pilot and feasibility study.

Published in:

Journal of Pediatric Rehabilitation Medicine, 2014, v. 7, n. 2, p. 167, doi. 10.3233/PRM-140286

By:

Afzal, Sarah Y.;
Wender, Anna R.;
Jones, Mary D.;
Fung, Ellen B.;
Pico, Elaine L.

Publication type:

Article

A day in the life of an educational psychologist.

Published in:

Assessment & Development Matters, 2018, v. 10, n. 4, p. 37, doi. 10.53841/bpsadm.2018.10.4.37

By:

Howarth, Imogen

Publication type:

Article

Integrative analysis of 115 transcriptomic studies decodes the molecular landscape of neurodevelopmental disorders.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08330-2

By:

Koetsier, Jarno;
Eijssen, Lars M. T.;
Schurgers, Leon J.;
Curfs, Leopold M. G.;
Reutelingsperger, Chris P.;
Bahram Sangani, Nasim

Publication type:

Article

Molecular Insights into Neurological Regression with a Focus on Rett Syndrome—A Narrative Review.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5361, doi. 10.3390/ijms26115361

By:

Singh, Jatinder;
Santosh, Paramala

Publication type:

Article

Neuronal Plasticity-Dependent Paradigm and Young Plasma Treatment Prevent Synaptic and Motor Deficit in a Rett Syndrome Mouse Model.

Published in:

Biomolecules (2218-273X), 2025, v. 15, n. 5, p. 748, doi. 10.3390/biom15050748

By:

Espinoza, Sofía;
Navia, Camila;
Torres, Rodrigo F.;
Llontop, Nuria;
Valladares, Verónica;
Silva, Cristina;
Vivero, Ariel;
Novoa-Padilla, Exequiel;
Soto-Covasich, Jessica;
Mella, Jessica;
Kouro, Ricardo;
Valdivia, Sharin;
Pérez-Bustamante, Marco;
Ojeda-Provoste, Patricia;
Pineda, Nancy;
Buvinic, Sonja;
Lee-Liu, Dasfne;
Henríquez, Juan Pablo;
Kerr, Bredford

Publication type:

Article

MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping.

Published in:

Biomolecules (2218-273X), 2025, v. 15, n. 5, p. 687, doi. 10.3390/biom15050687

By:

Mietto, Martina;
Montanari, Silvia;
Falzarano, Maria Sofia;
Manzati, Elisa;
Rimessi, Paola;
Fabris, Marina;
Selvatici, Rita;
Gualandi, Francesca;
Neri, Marcella;
Fortunato, Fernanda;
Foti, Miryam Rosa Stella;
Bigoni, Stefania;
Gessi, Marco;
Vacca, Marcella;
Torelli, Silvia;
Hayek, Joussef;
Ferlini, Alessandra

Publication type:

Article

A Computational Approach to Identify Novel Protein Targets Uncovers New Potential Mechanisms of Action of Mirtazapine S(+) and R(−) Enantiomers in Rett Syndrome.

Published in:

Journal of Neurochemistry, 2025, v. 169, n. 5, p. 1, doi. 10.1111/jnc.70093

By:

Roggero, Ottavia Maria;
Gualandi, Nicolò;
Ciraci, Viviana;
Berutto, Vittoria;
Carosati, Emanuele;
Tongiorgi, Enrico

Publication type:

Article

The interactional use of eye-gaze in children with autism spectrum disorders.

Published in:

Interaction Studies, 2014, v. 15, n. 2, p. 233, doi. 10.1075/is.15.2.12kor

By:

Korkiakangas, Terhi;
Rae, John

Publication type:

Article

Atypical Rett syndrome in a young boy with c.316c>T mutation in MECP2 gene.

Published in:

2013

By:

Erbilgin, Seda;
Coskun, Murat

Publication type:

Abstract

Mutations in the Rett Syndrome Patients from South India.

Published in:

2022

By:

Anitha, Ayyappan;
Poovathinal, Suresh;
Viswambharan, Vijitha;
Thanseem, Ismail;
Iype, Mary;
Anoop, U;
Sumitha, P;
Parakkal, Rahna;
Vasu, Mahesh;
Poovathinal, Suresh A;
Sumitha, P S;
Vasu, Mahesh M

Publication type:

journal article

Novel mutation: A rare cause of severe epileptic encephalopathy.

Published in:

2019

By:

Sharawat, Indar;
Yadav, Jaivinder;
Saini, Lokesh;
Sharawat, Indar Kumar

Publication type:

Case Study

Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09915-6

By:

Karaosmanoglu, Beren;
Imren, Gozde;
Ozisin, M. Samil;
Reçber, Tuba;
Simsek Kiper, Pelin Ozlem;
Haliloglu, Goknur;
Alikaşifoğlu, Mehmet;
Nemutlu, Emirhan;
Taskiran, Ekim Z.;
Utine, Gulen Eda

Publication type:

Article

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

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

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

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

Bone microarchitecture in Rett syndrome and treatment with teriparatide: a case report.

Published in:

2016

By:

Zanchetta, M.;
Scioscia, M.;
Zanchetta, J.

Publication type:

Report

MeCP2 loss‐of‐function dysregulates microRNAs regionally and disrupts excitatory/inhibitory synaptic transmission balance.

Published in:

Hippocampus, 2022, v. 32, n. 8, p. 610, doi. 10.1002/hipo.23455

By:

Horvath, Patricia M.;
Piazza, Michelle K.;
Kavalali, Ege T.;
Monteggia, Lisa M.

Publication type:

Article

Pharmacological intervention in young adolescents rescues synaptic physiology and behavioural deficits in Syngap1<sup>+/−</sup> mice.

Published in:

Experimental Brain Research, 2022, v. 240, n. 1, p. 289, doi. 10.1007/s00221-021-06254-x

By:

Verma, Vijaya;
Kumar, M. J. Vijay;
Sharma, Kavita;
Rajaram, Sridhar;
Muddashetty, Ravi;
Manjithaya, Ravi;
Behnisch, Thomas;
Clement, James P.

Publication type:

Article

May GABA transaminase inhibitors improve stereotyped behaviors in Rett syndrome?

Published in:

2012

By:

Ghanizadeh, Ahmad

Publication type:

Letter

Preliminary Report on the Efficacy of Music Therapy to Optimize the Compliance of Rett Syndrome Patients Attending Oral Hygiene Procedures.

Published in:

Psychiatry International, 2023, v. 4, n. 3, p. 235, doi. 10.3390/psychiatryint4030023

By:

Tortoriello, Mario;
Frosolini, Andrea;
Pianigiani, Sara;
Cascino, Flavia;
Gabriele, Guido;
Gennaro, Paolo;
Parrini, Stefano;
Viviano, Massimo

Publication type:

Article

Molecular diagnostics of women's health issues.

Published in:

Medical Laboratory Observer (MLO), 2023, v. 55, n. 6, p. 1

By:

Chandra, Rajasri

Publication type:

Article

Autism Services in Maharashtra.

Published in:

Annals of Indian Psychiatry, 2022, v. 6, n. 3, p. 218, doi. 10.4103/aip.aip_92_21

By:

Subramanyam, Alka Anand;
Patkar, Prajakta Sushil

Publication type:

Article

Sex disparate gut microbiome and metabolome perturbations precede disease progression in a mouse model of Rett syndrome.

Published in:

Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02915-3

By:

Neier, Kari;
Grant, Tianna E.;
Palmer, Rebecca L.;
Chappell, Demario;
Hakam, Sophia M.;
Yasui, Kendra M.;
Rolston, Matt;
Settles, Matthew L.;
Hunter, Samuel S.;
Madany, Abdullah;
Ashwood, Paul;
Durbin-Johnson, Blythe;
LaSalle, Janine M.;
Yasui, Dag H.

Publication type:

Article

Rett syndrome: a complex disorder with simple roots.

Published in:

Nature Reviews Genetics, 2015, v. 16, n. 5, p. 261, doi. 10.1038/nrg3897

By:

Lyst, Matthew J.;
Bird, Adrian

Publication type:

Article

Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2‐allelic disorders.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 2, p. 433, doi. 10.1002/acn3.52269

By:

Pehlivan, Davut;
Huang, Chengjun;
Harris, Holly K.;
Coquery, Christine;
Mahat, Aditya;
Maletic‐Savatic, Mirjana;
Mignon, Laurence;
Aras, Sukru;
Glaze, Daniel G.;
Layne, Charles S.;
Sahelijo, Leonardo;
Zoghbi, Huda Y.;
McGinley, Matthew J.;
Suter, Bernhard

Publication type:

Article

Linking autism spectrum disorders and parkinsonism: clinical and genetic association.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 4, p. 484, doi. 10.1002/acn3.51736

By:

Mai, Aaron Shengting;
Yau, Chun En;
Tseng, Fan Shuen;
Foo, Qi Xuan Joel;
Wang, Dennis Qing;
Tan, Eng‐King

Publication type:

Article

Corrigendum.

Published in:: 2018
Publication type:: Correction Notice

Placebo‐controlled crossover assessment of mecasermin for the treatment of Rett syndrome.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 323, doi. 10.1002/acn3.533

By:

O'Leary, Heather M.;
Kaufmann, Walter E.;
Barnes, Katherine V.;
Rakesh, Kshitiz;
Kapur, Kush;
Tarquinio, Daniel C.;
Cantwell, Nicole G.;
Roche, Katherine J.;
Rose, Suzanne A.;
Walco, Alexandra C.;
Bruck, Natalie M.;
Bazin, Grace A.;
Holm, Ingrid A.;
Alexander, Mark E.;
Swanson, Lindsay C.;
Baczewski, Lauren M.;
Mayor Torres, Juan M.;
Nelson, III, Charles A.;
Sahin, Mustafa

Publication type:

Article

Effect of desipramine on patients with breathing disorders in RETT syndrome.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 2, p. 118, doi. 10.1002/acn3.468

By:

Mancini, Josette;
Dubus, Jean‐Christophe;
Jouve, Elisabeth;
Roux, Jean‐Christophe;
Franco, Patricia;
Lagrue, Emmanuelle;
Castelnau, Pierre;
Cances, Claude;
Chaix, Yves;
Rougeot‐Jung, Christelle;
Cornu, Catherine;
Desportes, Vincent;
Vallée, Louis;
Bahi‐Buisson, Nadia;
Truillet, Romain;
Attolini, Laurence;
Villard, Laurent;
Blin, Olivier;
Micallef, Joëlle

Publication type:

Article

A narrative review of the mechanisms and consequences of intermittent hypoxia and the role of advanced analytic techniques in pediatric autonomic disorders.

Published in:

Clinical Autonomic Research, 2023, v. 33, n. 3, p. 287, doi. 10.1007/s10286-023-00958-6

By:

Ramirez, Jan-Marino;
Carroll, Michael S.;
Burgraff, Nicholas;
Rand, Casey M.;
Weese-Mayer, Debra E.

Publication type:

Article

Increasing brain serotonin corrects CO<sub>2</sub> chemosensitivity in methyl-CpG-binding protein 2 (Mecp2)-deficient mice.

Published in:

Experimental Physiology, 2013, v. 98, n. 3, p. 842, doi. 10.1113/expphysiol.2012.069872

By:

Toward, Marie A.;
Abdala, Ana P.;
Knopp, Sharon J.;
Paton, Julian F. R.;
Bissonnette, John M.

Publication type:

Article

Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 4, p. N.PAG, doi. 10.3390/metabo12040291

By:

Zandl-Lang, Martina;
Züllig, Thomas;
Trötzmüller, Martin;
Naegelin, Yvonne;
Abela, Lucia;
Wilken, Bernd;
Scholl-Buergi, Sabine;
Karall, Daniela;
Kappos, Ludwig;
Köfeler, Harald;
Plecko, Barbara

Publication type:

Article

Sphingolipid Metabolism Perturbations in Rett Syndrome.

Published in:

Metabolites (2218-1989), 2019, v. 9, n. 10, p. 221, doi. 10.3390/metabo9100221

By:

Cappuccio, Gerarda;
Donti, Taraka;
Pinelli, Michele;
Bernardo, Pia;
Bravaccio, Carmela;
Elsea, Sarah H.;
Brunetti-Pierri, Nicola

Publication type:

Article

Analysis of genetic characteristics in four children with atypical Rett syndrome and developmental epileptic encephalopathy caused by IQSEC2 gene variation.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2024, v. 24, n. 8, p. 674, doi. 10.3969/j.issn.1672-6731.2024.08.012

By:

LIN Li;
CUI Zhen-zhen;
HE Fan;
ZHAO Xiao-ling;
JIN Dan-qun;
YANG Bin

Publication type:

Article

Rett Syndrome and long-term disorder profile.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 818, doi. 10.1111/j.1365-2788.2008.01120_7.x

By:

Smeets, E.;
Schrander‐Stumpel, C.;
Curfs, L.

Publication type:

Article

The impact of having a sibling with an intellectual disability: parental perspectives in two disorders.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 3, p. 216, doi. 10.1111/j.1365-2788.2007.01005.x

By:

Mulroy, S.;
Robertson, L.;
Aiberti, K.;
Leonard, H.;
Bower, C.

Publication type:

Article

Understanding Rett Disorder.

Published in:

2007

By:

Boer, H.

Publication type:

Book Review

Cognitive performance in Rett syndrome girls: a pilot study using eyetracking technology.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 9, p. 662, doi. 10.1111/j.1365-2788.2006.00818.x

By:

Baptista, P. M.;
Mercadante, M. T.;
Macedo, E. C.;
Schwartzman, J. S.

Publication type:

Article

People with MECP2 mutation-positive Rett disorder who converse.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 5, p. 386, doi. 10.1111/j.1365-2788.2005.00786.x

By:

Kerr, A. M.;
Archer, H. L.;
Evans, J. C.;
Prescott, R. J.;
Gibbon, F.

Publication type:

Article

Improving functional skills and physical fitness in children with Rett syndrome.

Published in:

Journal of Intellectual Disability Research, 2004, v. 48, n. 8, p. 730, doi. 10.1111/j.1365-2788.2003.00589.x

By:

Lotan, M.;
Isakov, E.;
Merrick, J.

Publication type:

Article

An analogue assessment of repetitive hand behaviours in girls and young women with Rett syndrome.

Published in:

Journal of Intellectual Disability Research, 2004, v. 48, n. 7, p. 672, doi. 10.1111/j.1365-2788.2003.00590.x

By:

Wales, L.;
Charman, T.;
Mount, R. H.

Publication type:

Article

Nurse recognition of early deviation in development in home videos of infants with Rett disorder.

Published in:

Journal of Intellectual Disability Research, 2003, v. 47, n. 8, p. 588, doi. 10.1046/j.1365-2788.2003.00476.x

By:

Burford, B.;
Kerr, A. M.;
Macleod, H. A.

Publication type:

Article

Review article: Breaking new ground with Rett syndrome.

Published in:

Journal of Intellectual Disability Research, 2003, v. 47, n. 8, p. 580, doi. 10.1046/j.1365-2788.2003.00506.x

By:

Kerr, A. M.;
Ravine, D.

Publication type:

Article

Motion analysis of stereotyped hand movements in Rett syndrome.

Published in:

Journal of Intellectual Disability Research, 2003, v. 47, n. 2, p. 85, doi. 10.1046/j.1365-2788.2003.00444.x

By:

Wright, M.;
van der Linden, M. L.;
Kerr, A. M.;
Burford, B.;
Arrowsmith, G.;
Middleton, R. L.

Publication type:

Article

Behaviour problems in adult women with Rett syndrome.

Published in:

Journal of Intellectual Disability Research, 2002, v. 46, n. 8, p. 619, doi. 10.1046/j.1365-2788.2002.00442.x

By:

Mount, R. H.;
Hastings, R. P.;
Reilly, S.;
Cass, H.;
Charman, T.

Publication type:

Article

The effect of the presentation of visual and auditory stimuli on the breathing patterns of two girls with Rett syndrome.

Published in:

Journal of Intellectual Disability Research, 1996, v. 40, n. 3, p. 252, doi. 10.1111/j.1365-2788.1996.tb00628.x

By:

Woodyatt, G. C.;
Murdoch, B. E.

Publication type:

Article

Alterations in replication timing of X-chromosome bands in Rett syndrome.

Published in:

Journal of Intellectual Disability Research, 1995, v. 39, n. 2, p. 91, doi. 10.1111/j.1365-2788.1995.tb00476.x

By:

Kormann-Bortolotto, M. H.;
Webb, T.

Publication type:

Article