Works about RETT syndrome

Results: 1334

P.084 Epidemiology and burden of illness in patients with Rett Syndrome in Ontario, Canada.

Published in:

2025

By:

Bond, S;
Murray, J;
Datta, A;
Rafay, MF;
McAdam, L;
Neish, C

Publication type:

Abstract

P.082 Real-world benefits and tolerability of trofinetide for the treatment of pediatric and adult patients with Rett Syndrom: the LOTUS study.

Published in:

2025

By:

Bond, S;
Mayman, H;
Downs, J;
Cosand, L

Publication type:

Abstract

P.081 Real-world benefits and tolerability of trofinetide for the treatment of Rett Syndrom: interim analysis of the LOTUS study.

Published in:

2025

By:

Bond, S;
Mayman, H;
Downs, J;
Cosand, L

Publication type:

Abstract

Altered dendritic morphology of MEC II pyramidal and stellate cells in Rett syndrome mice.

Published in:

Frontiers in Neuroanatomy, 2025, p. 1, doi. 10.3389/fnana.2025.1580435

By:

Krishnan, Manigandan;
Mydeen, Ayishal B.;
Nakhal, Mohammed M.;
Ibrahim, Marwa F.;
Jayaraj, Richard L.;
Ljubisavljevic, Milos R.;
Hamad, Mohammad I. K.;
Ismail, Fatima Y.

Publication type:

Article

Rett syndrome: advances in Understanding MeCP2 function, potential gene therapies, and public health implications.

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10802-x

By:

Ali, Nadia E.;
Tariq, Nabeela;
Naz, Gul;
Abalkhail, Adil;
Kausar, Tasleem;
Mazhar, Ismail;
Zia, Sana;
Aqib, Amjad I.;
Khan, Najeeb Ullah

Publication type:

Article

Teaching through gaze: The impact of interactive fairy tales on learning in girls with Rett Syndrome.

Published in:

Life Span & Disability, 2025, v. 28, n. 1, p. 103, doi. 10.57643/lsadj.2025.28.1_05

By:

Giannatiempo, Samantha;
Semino, Martina;
Dovigo, Lucia;
Nardon, Valentina;
De Cecco, Mariolino;
Fabio, Rosa Angela

Publication type:

Article

Zebrafish mecp2 null-mutation increases anxiety and cortisol levels but no change in adult social preference and larval chemically-induced hyperlocomotion.

Published in:

BMC Neuroscience, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12868-025-00946-8

By:

Shams, Soaleha;
Cronell, Pierre;
Landin, Jenny;
Pietri, Thomas;
Gimdal, Adrian Ekehorn;
Kettunen, Petronella;
Westberg, Lars

Publication type:

Article

Overcoming Challenges in Learning Prerequisites for Adaptive Functioning: Tele-Rehabilitation for Young Girls with Rett Syndrome.

Published in:

Journal of Personalized Medicine, 2025, v. 15, n. 6, p. 250, doi. 10.3390/jpm15060250

By:

Fabio, Rosa Angela;
Giannatiempo, Samantha;
Perina, Michela

Publication type:

Article

Facilitators and Barriers of Participation in "Uptime" Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals.

Published in:

Qualitative Health Research, 2019, v. 29, n. 4, p. 609, doi. 10.1177/1049732318803358

By:

Stahlhut, Michelle;
Esbensen, Bente Appel;
Larsen, Jane Lunding;
Bisgaard, Anne-Marie;
Downs, Jenny;
Nordmark, Eva

Publication type:

Article

Gastrointestinal manifestations of Rett syndrome: An updated analysis using the Gastrointestinal Health Questionnaire.

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 2025, v. 80, n. 1, p. 46, doi. 10.1002/jpn3.12394

By:

Ihekweazu, Faith D.;
Motil, Kathleen J.

Publication type:

Article

Gastrointestinal Health Questionnaire for Rett Syndrome: Tool Development.

Published in:

2021

By:

Motil, Kathleen J.;
Khan, Nabeel;
Coon, Jennifer L.;
Barrish, Judy O.;
Suter, Bernhard;
Pehlivan, Davut;
Schultz, Rebecca J.;
Glaze, Daniel G.

Publication type:

journal article

Biliary Tract Disease in Girls and Young Women With Rett Syndrome.

Published in:

2019

By:

Motil, Kathleen J.;
Lane, Jane B.;
Barrish, Judy O.;
Annese, Fran;
Geerts, Suzanne;
McNair, Lauren;
Skinner, Steven A.;
Neul, Jeffrey L.;
Glaze, Daniel G.;
Percy, Alan K.

Publication type:

journal 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

Sex-specific single cell-level transcriptomic signatures of Rett syndrome disease progression.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06990-0

By:

Sharifi, Osman;
Haghani, Viktoria;
Neier, Kari E.;
Fraga, Keith J.;
Korf, Ian;
Hakam, Sophia M.;
Quon, Gerald;
Johansen, Nelson;
Yasui, Dag H.;
LaSalle, Janine M.

Publication type:

Article

MECP2 mutáció fiúgyermekben.

Published in:

Gyermekgyógyászat, 2024, v. 75, n. 4, p. 277

By:

Mária, Szegner Laura;
Noémi, Benedek;
Ágnes, Till;
Katalin, Hollódy

Publication type:

Article

Effects of a Supervised-As-Needed Home Exercise Program on Scoliosis and Motor Function in Rett Syndrome: A Multiple-Baseline Study.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 6, p. 1873, doi. 10.3390/jcm14061873

By:

Romano, Alberto;
Rodocanachi Roidi, Marina Luisa;
Savini, Miriam Nella;
Viganò, Ilaria;
Dziubak, Michal;
Pietrogrande, Luca;
Moran, Daniel Sender;
Lotan, Meir

Publication type:

Article

Minimally Invasive Bipolar Technique for Scoliosis in Rett Syndrome—Results and Complications in a Series of 22 Cases.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 3, p. 849, doi. 10.3390/jcm14030849

By:

Del Sal, Alice;
Haumont, Edouard;
Pigeolet, Manon;
Gaume, Mathilde;
Riouallon, Guillaume;
Bahi Buisson, Nadia;
Linglart, Agnes;
Desguerre, Isabelle;
Pannier, Stephanie;
Miladi, Lotfi

Publication type:

Article

First Diagnostic Questionnaire for Assessing Patients' Social Functioning: Comprehensive DDX3X Syndrome Patient Profile.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 24, p. 7842, doi. 10.3390/jcm13247842

By:

Stefaniak-Preis, Urszula;
Kaczmarek, Ada;
Andrusiewicz, Mirosław;
Roszak, Magdalena;
Trzeszczyńska, Natalia;
Samborski, Włodzimierz;
Mojs, Ewa;
Malak, Roksana

Publication type:

Article

Trofinetide for Rett Syndrome: Highlights on the Development and Related Inventions of the First USFDA-Approved Treatment for Rare Pediatric Unmet Medical Need.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 5114, doi. 10.3390/jcm12155114

By:

Hudu, Shuaibu A.;
Elmigdadi, Fayig;
Qtaitat, Aiman Al;
Almehmadi, Mazen;
Alsaiari, Ahad Amer;
Allahyani, Mamdouh;
Aljuaid, Abdulelah;
Salih, Magdi;
Alghamdi, Adel;
Alrofaidi, Mohammad A.;
Abida;
Imran, Mohd

Publication type:

Article

Development and Psychometric Properties of the Multi-System Profile of Symptoms Scale in Patients with Rett Syndrome.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 17, p. 5094, doi. 10.3390/jcm11175094

By:

Singh, Jatinder;
Fiori, Federico;
Law, Mei Lin;
Ahmed, Ruksana;
Ameenpur, Shashidhar;
Basheer, Salah;
Chishti, Samiya;
Lawrence, Rosie;
Mastroianni, Mathilde;
Mosaddegh, Abdolreza;
Santosh, Paramala

Publication type:

Article

Intensive Postural and Motor Activity Program Reduces Scoliosis Progression in People with Rett Syndrome.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 3, p. 559, doi. 10.3390/jcm11030559

By:

Romano, Alberto;
Ippolito, Elena;
Risoli, Camilla;
Malerba, Edoardo;
Favetta, Martina;
Sancesario, Andrea;
Lotan, Meir;
Moran, Daniel Sender

Publication type:

Article

Differentiating Females with Rett Syndrome and Those with Multi-Comorbid Autism Spectrum Disorder Using Physiological Biomarkers: A Novel Approach.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 9, p. 2842, doi. 10.3390/jcm9092842

By:

Iakovidou, Nantia;
Lanzarini, Evamaria;
Singh, Jatinder;
Fiori, Federico;
Santosh, Paramala

Publication type:

Article

The Anti-Diabetic Drug Metformin Rescues Aberrant Mitochondrial Activity and Restrains Oxidative Stress in a Female Mouse Model of Rett Syndrome.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 6, p. 1669, doi. 10.3390/jcm9061669

By:

Zuliani, Ilaria;
Urbinati, Chiara;
Valenti, Daniela;
Quattrini, Maria Cristina;
Medici, Vanessa;
Cosentino, Livia;
Pietraforte, Donatella;
Di Domenico, Fabio;
Perluigi, Marzia;
Vacca, Rosa Anna;
De Filippis, Bianca

Publication type:

Article

Telerehabilitation with Computer Vision-Assisted Markerless Measures: A Pilot Study with Rett Syndrome Patients.

Published in:

Electronics (2079-9292), 2023, v. 12, n. 2, p. 435, doi. 10.3390/electronics12020435

By:

Nucita, Andrea;
Iannizzotto, Giancarlo;
Perina, Michela;
Romano, Alberto;
Fabio, Rosa Angela

Publication type:

Article

The TCTRS Project: A Holistic Approach for Telerehabilitation in Rett Syndrome.

Published in:

Electronics (2079-9292), 2020, v. 9, n. 3, p. 491, doi. 10.3390/electronics9030491

By:

Caprì, Tindara;
Fabio, Rosa Angela;
Iannizzotto, Giancarlo;
Nucita, Andrea

Publication type:

Article

Melatonin in Neurodevelopmental Disorders: A Critical Literature Review.

Published in:

Antioxidants, 2023, v. 12, n. 11, p. 2017, doi. 10.3390/antiox12112017

By:

Feybesse, Cyrille;
Chokron, Sylvie;
Tordjman, Sylvie

Publication type:

Article

ANESTHESIA IN A CHILD WITH RETT SYNDROME: A CASE REPORT AND LITERATURE REVIEW.

Published in:

AANA Journal, 2001, v. 69, n. 5, p. 395

By:

Pierson, Jane;
Mayhew, James F.

Publication type:

Article

Relato de caso sobre um menino com síndrome de Rett e práticas pedagógicas inclusivas.

Published in:

Conhecimento & Diversidade, 2021, v. 13, n. 30, p. 154, doi. 10.18316/rcd.v13i30.8393

By:

Muniz dos Santos, Juliana Gonçalves;
Oliveira Gomes, Suzete Araujo

Publication type:

Article

Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications.

Published in:

Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2023.1301272

By:

Balicza, Peter;
Gezsi, Andras;
Fedor, Mariann;
Sagi, Judit C.;
Gal, Aniko;
Varga, Noemi Agnes;
Judit Molnar, Maria

Publication type:

Article

Gut microbes in central nervous system development and related disorders.

Published in:

Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2023.1288256

By:

Yumeng Gan;
Yao Chen;
Huijie Zhong;
Zhuo Liu;
Jiawei Geng;
Huishan Wang;
Wenxue Wang

Publication type:

Article

Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00476

By:

Chen, Chia-Hsiang;
Cheng, Min-Chih;
Huang, Ailing;
Hu, Tsung-Ming;
Ping, Lieh-Yung;
Chang, Yu-Syuan

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

Perioperative management and outcome of patients with Rett syndrome undergoing scoliosis surgery: a retrospective review.

Published in:

Journal of Anesthesia, 2015, v. 29, n. 4, p. 492, doi. 10.1007/s00540-015-1974-3

By:

Karmaniolou, Iosifina;
Krishnan, Ramprabu;
Galtrey, Eleanor;
Cleland, Stuart;
Vijayaraghavan, Ramesh

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

Two Pediatric Cases of Successful Management of Postictal Transient Urinary Retention.

Published in:

Annals of Rehabilitation Medicine, 2020, v. 44, n. 1, p. 90, doi. 10.5535/arm.2020.44.1.90

By:

Ho Eun Park;
Je-Sang Lee;
Dong Min Kim;
Yong Beom Shin

Publication type:

Article

Anesthetic management of a pediatric patient with Rett syndrome - A case report -.

Published in:

Anesthesia & Pain Medicine, 2018, v. 13, n. 2, p. 173, doi. 10.17085/apm.2018.13.2.173

By:

Lee, A. Ran;
Hyung Kwan Lee;
Young Ung Kim;
Jae Ho Lee;
Ho Jun Kang;
Se Hun Park

Publication type:

Article

Breathing Abnormalities During Sleep and Wakefulness in Rett Syndrome: Clinical Relevance and Paradoxical Relationship With Circulating Pro-oxidant Markers.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.833239

By:

Leoncini, Silvia;
Signorini, Cinzia;
Boasiako, Lidia;
Scandurra, Valeria;
Hayek, Joussef;
Ciccoli, Lucia;
Rossi, Marcello;
Canitano, Roberto;
De Felice, Claudio

Publication type:

Article

Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.817195

By:

Tascini, Giorgia;
Dell'Isola, Giovanni Battista;
Mencaroni, Elisabetta;
Di Cara, Giuseppe;
Striano, Pasquale;
Verrotti, Alberto

Publication type:

Article

Multimodal Neuroimaging in Rett Syndrome With MECP2 Mutation.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.838206

By:

Kong, Yu;
Li, Qiu-bo;
Yuan, Zhao-hong;
Jiang, Xiu-fang;
Zhang, Gu-qing;
Cheng, Nan;
Dang, Na

Publication type:

Article

SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.743726

By:

Ding, Jiangwei;
Li, Xinxiao;
Tian, Haiyan;
Wang, Lei;
Guo, Baorui;
Wang, Yangyang;
Li, Wenchao;
Wang, Feng;
Sun, Tao

Publication type:

Article

MECP2, a multi-talented modulator of chromatin architecture.

Published in:

Briefings in Functional Genomics, 2016, v. 15, n. 6, p. 420, doi. 10.1093/bfgp/elw023

By:

Ragione, Floriana Della;
Vacca, Marcella;
Fioriniello, Salvatore;
Pepe, Giuseppe;
D'Esposito, Maurizio

Publication type:

Article

Current concepts of autism spectrum disorder: A literature review.

Published in:

Clinical Dentistry (0974-3979), 2023, v. 24, n. 4, p. 18, doi. 10.33882/ClinicalDent.15.33407

By:

Gaur, Malhar;
Dave, Bhavna

Publication type:

Article

Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome.

Published in:

Disability & Rehabilitation, 2020, v. 42, n. 26, p. 3800, doi. 10.1080/09638288.2019.1610801

By:

Strugnell, Aleisha;
Leonard, Helen;
Epstein, Amy;
Downs, Jenny

Publication type:

Article

Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome.

Published in:

Disability & Rehabilitation, 2019, v. 41, n. 2, p. 133, doi. 10.1080/09638288.2017.1381181

By:

Stahlhut, Michelle;
Downs, Jenny;
Aadahl, Mette;
Leonard, Helen;
Bisgaard, Anne-Marie;
Nordmark, Eva

Publication type:

Article

Choice making in Rett syndrome: a descriptive study using video data.

Published in:

Disability & Rehabilitation, 2018, v. 40, n. 7, p. 813, doi. 10.1080/09638288.2016.1277392

By:

Urbanowicz, Anna;
Ciccone, Natalie;
Girdler, Sonya;
Leonard, Helen;
Downs, Jenny

Publication type:

Article

Building the repertoire of measures of walking in Rett syndrome.

Published in:

Disability & Rehabilitation, 2017, v. 39, n. 19, p. 1926, doi. 10.1080/09638288.2016.1212280

By:

Stahlhut, Michelle;
Downs, Jenny;
Leonard, Helen;
Bisgaard, Anne-Marie;
Nordmark, Eva

Publication type:

Article

Functional abilities in aging women with Rett syndrome – the Danish cohort.

Published in:

Disability & Rehabilitation, 2017, v. 39, n. 9, p. 911, doi. 10.3109/09638288.2016.1170896

By:

Schönewolf-Greulich, Bitten;
Stahlhut, Michelle;
Larsen, Jane Lunding;
Syhler, Birgit;
Bisgaard, Anne-Marie

Publication type:

Article

Drug Studies on Rett Syndrome: From Bench to Bedside.

Published in:

Journal of Autism & Developmental Disorders, 2020, v. 50, n. 8, p. 2740, doi. 10.1007/s10803-020-04381-y

By:

Gomathi, Mohan;
Padmapriya, Subramanian;
Balachandar, Vellingiri

Publication type:

Article

Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2020, v. 50, n. 1, p. 118, doi. 10.1007/s10803-019-04230-7

By:

Hettiarachchi, D.;
Neththikumara, N. F.;
Pathirana, B. A. P. S.;
Dissanayake, V. H. W.

Publication type:

Article

Brief Report: Modest but Clinically Meaningful Effects of Early Behavioral Intervention in Twins with Rett Syndrome—A Case Study.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 12, p. 5063, doi. 10.1007/s10803-019-04185-9

By:

Titlestad, Kristine Berg;
Eldevik, Sigmund

Publication type:

Article