Works matching Rett syndrome

Results: 2257

Classical Rett Syndrome in a Ghanaian Child: A case report.

Published in:

2009

By:

Badoe, E. V.

Publication type:

Case Study

Functional Communication Training in Rett Syndrome: A Preliminary Study.

Published in:

American Journal on Intellectual & Developmental Disabilities, 2014, v. 119, n. 4, p. 340, doi. 10.1352/1944-7558-119.4.340

By:

Byiers, Breanne J.;
Dimian, Adele;
Symons, Frank J.

Publication type:

Article

Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children With Rett Syndrome.

Published in:

2017

By:

Clarkson, Tessa;
LeBlanc, Jocelyn;
DeGregorio, Geneva;
Vogel-Farley, Vanessa;
Barnes, Katherine;
Kaufmann, Walter E.;
Nelson, Charles A.

Publication type:

journal article

Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure.

Published in:

American Journal on Intellectual & Developmental Disabilities, 2023, v. 128, n. 3, p. 237, doi. 10.1352/1944-7558-128.3.237

By:

Oberman, Lindsay M.;
Leonard, Helen;
Downs, Jenny;
Cianfaglione, Rina;
Stahlhut, Michelle;
Larsen, Jane L.;
Madden, Katherine V.;
Kaufmann, Walter E.

Publication type:

Article

The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study.

Published in:

Canadian Journal of Neurological Sciences, 2016, v. 43, n. 4, p. 567, doi. 10.1017/cjn.2016.8

By:

Humphreys, Peter;
Barrowman, Nick

Publication type:

Article

Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.

Published in:

Genes, 2021, v. 12, n. 8, p. 1157, doi. 10.3390/genes12081157

By:

Spagnoli, Carlotta;
Fusco, Carlo;
Pisani, Francesco

Publication type:

Article

Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome.

Published in:

Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09575-4

By:

Downs, Jenny;
Wong, Kingsley;
Leonard, Helen

Publication type:

Article

Rett Syndrome: Prevalence Among Chinese and a Comparison of MECP2 Mutations of Classic Rett Syndrome With Other Neurodevelopmental Disorders.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 12, p. 1397, doi. 10.1177/0883073807307091

By:

Wong, Virginia C. N.;
Li, Susannay Y. H.

Publication type:

Article

The Rett Syndrome Gross Motor Scale – Dutch Version (RSGMS-NL) Can Reliably Assess Gross Motor Skills in Dutch Individuals with Rett Syndrome.

Published in:

Developmental Neurorehabilitation, 2022, v. 25, n. 2, p. 133, doi. 10.1080/17518423.2021.1960920

By:

Borst, Hanneke;
Weeda, Josianne;
Downs, Jenny;
Curfs, Leopold;
de Bie, Rob

Publication type:

Article

FUNKCJONOWANIE RODZINY DZIECKA Z ZESPOŁEM RETTA ZE SZCZEGÓLNYM UWZGLĘDNIENIEM ROLI KOMUNIKACJI ALTERNATYWNEJ (AAC) - STUDIUM INDYWIDUALNEGO PRZYPADKU.

Published in:

Szkoła Specjalna, 2023, v. 84, n. 3, p. 219, doi. 10.5604/01.3001.0053.8981

By:

CHOSZCZYK, KATARZYNA

Publication type:

Article

Abnormal Foot Position and Standing and Walking Ability in Rett Syndrome: an Exploratory Study.

Published in:

Journal of Developmental & Physical Disabilities, 2018, v. 30, n. 2, p. 281, doi. 10.1007/s10882-017-9585-6

By:

Borst, Hanneke E.;
Townend, Gillian S.;
van Eck, Mirjam;
Smeets, Eric;
van den Berg, Mariëlle;
Laan, Aleid;
Curfs, Leopold M. G.

Publication type:

Article

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.

Published in:

Cells (2073-4409), 2023, v. 12, n. 10, p. 1437, doi. 10.3390/cells12101437

By:

Frankel, Eric;
Podder, Avijit;
Sharifi, Megan;
Pillai, Roshan;
Belnap, Newell;
Ramsey, Keri;
Dodson, Julius;
Venugopal, Pooja;
Brzezinski, Molly;
Llaci, Lorida;
Gerald, Brittany;
Mills, Gabrielle;
Sanchez-Castillo, Meredith;
Balak, Chris D.;
Szelinger, Szabolcs;
Jepsen, Wayne M.;
Siniard, Ashley L.;
Richholt, Ryan;
Naymik, Marcus;
Schrauwen, Isabelle

Publication type:

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

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

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

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

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

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

Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome.

Published in:

Genes, 2024, v. 15, n. 5, p. 594, doi. 10.3390/genes15050594

By:

Merritt, Jonathan K.;
Fang, Xiaolan;
Caylor, Raymond C.;
Skinner, Steven A.;
Friez, Michael J.;
Percy, Alan K.;
Neul, Jeffrey L.

Publication type:

Article

Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.

Published in:

Genes, 2023, v. 14, n. 8, p. 1607, doi. 10.3390/genes14081607

By:

Vilvarajan, Sandra;
McDonald, Madeleine;
Douglas, Lyndal;
Newham, Jessica;
Kirkland, Robyn;
Tzannes, Gloria;
Tay, Diane;
Christodoulou, John;
Thompson, Susan;
Ellaway, Carolyn

Publication type:

Article

Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database.

Published in:

Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09557-6

By:

May, Damian;
Kponee-Shovein, Kalé;
Neul, Jeffrey L.;
Percy, Alan K.;
Mahendran, Malena;
Downes, Nathaniel;
Chen, Grace;
Watson, Talissa;
Pichard, Dominique C.;
Kennedy, Melissa;
Lefebvre, Patrick

Publication type:

Article

MECP2 mutations in Serbian Rett syndrome patients.

Published in:

Acta Neurologica Scandinavica, 2007, v. 116, n. 6, p. 413, doi. 10.1111/j.1600-0404.2007.00893.x

By:

Djarmati, A.;
Dobričić, V.;
Kecmanović, M.;
Marsh, P.;
Jančić-Stefanović, J.;
Klein, C.;
Djurić, M.;
Romac, S.

Publication type:

Article

Developing a database for Rett syndrome research performed in the European Union: A resource for researchers and stakeholders.

Published in:

Child: Care, Health & Development, 2018, v. 44, n. 5, p. 794, doi. 10.1111/cch.12595

By:

Akinsolu, Folahanmi Tomiwa;
Balczár, Eszter;
Kovács, Nóra;
Gáll, Tibor;
Harangi, Mariann;
Varga, Orsolya

Publication type:

Article

A qualitative investigation of recovery after femoral fracture in Rett syndrome.

Published in:

Child: Care, Health & Development, 2017, v. 43, n. 2, p. 232, doi. 10.1111/cch.12392

By:

Horne, T.;
Leonard, H.;
Stannage, K.;
Downs, J.

Publication type:

Article

Spinal fusion in girls with Rett syndrome: post-operative recovery and family experiences.

Published in:

Child: Care, Health & Development, 2015, v. 41, n. 6, p. 1000, doi. 10.1111/cch.12243

By:

Marr, C.;
Leonard, H.;
Torode, I.;
Downs, J.

Publication type:

Article

Targeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromes.

Published in:

Frontiers in Cellular Neuroscience, 2015, v. 8/9, p. 1, doi. 10.3389/fncel.2015.00055

By:

Hansen Wang;
Pati, Sandipan;
Pozzo-Miller, Lucas;
Doering, Laurie C.

Publication type:

Article

Rett syndrome: from recognition to diagnosis to intervention.

Published in:

Expert Review of Endocrinology & Metabolism, 2008, v. 3, n. 3, p. 327, doi. 10.1586/17446651.3.3.327

By:

Percy, Alan K.

Publication type:

Article

Anti-Semaphorin 4D Rescues Motor, Cognitive, and Respiratory Phenotypes in a Rett Syndrome Mouse Model.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9465, doi. 10.3390/ijms22179465

By:

Mao, Yilin;
Evans, Elizabeth E.;
Mishra, Vikas;
Balch, Leslie;
Eberhardt, Allison;
Zauderer, Maurice;
Gold, Wendy A.

Publication type:

Article

Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4316, doi. 10.3390/ijms22094316

By:

Ehinger, Yann;
Matagne, Valerie;
Cunin, Valérie;
Borloz, Emilie;
Seve, Michel;
Bourgoin-Voillard, Sandrine;
Borges-Correia, Ana;
Villard, Laurent;
Roux, Jean-Christophe;
Meldolesi, Jacopo;
Diogenes, Maria J.

Publication type:

Article

Comprehensive Analysis of GABA<sub>A</sub>-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 2, p. 1, doi. 10.3390/ijms21020518

By:

Oyarzabal, Alfonso;
Xiol, Clara;
Castells, Alba Aina;
Grau, Cristina;
O’Callaghan, Mar;
Fernández, Guerau;
Alcántara, Soledad;
Pineda, Mercè;
Armstrong, Judith;
Altafaj, Xavier;
García-Cazorla, Angels

Publication type:

Article

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 16, p. 3925, doi. 10.3390/ijms20163925

By:

Vidal, Silvia;
Xiol, Clara;
Pascual-Alonso, Ainhoa;
O'Callaghan, M.;
Pineda, Mercè;
Armstrong, Judith

Publication type:

Article

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

Polysomnographic findings in Rett syndrome: a case-control study.

Published in:

Sleep & Breathing, 2013, v. 17, n. 1, p. 93, doi. 10.1007/s11325-012-0654-x

By:

Carotenuto, Marco;
Esposito, Maria;
D'Aniello, Alfredo;
Rippa, Carmen;
Precenzano, Francesco;
Pascotto, Antonio;
Bravaccio, Carmela;
Elia, Maurizio

Publication type:

Article

Clinical and genetic correlations of scoliosis in Rett syndrome.

Published in:

European Spine Journal, 2022, v. 31, n. 11, p. 2987, doi. 10.1007/s00586-022-07217-8

By:

Rodocanachi Roidi, Marina Luisa;
Cozzi, Francesca;
Isaias, Ioannis Ugo;
Grange, Francesca;
Ferrari, Elena Paola;
Ripamonti, Enrico

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

Anesthetic management of a Rett syndrome patient with apnea and epilepsy: a case report.

Published in:

2018

By:

Motomura, Yuka;
Idei, Masafumi;
Sato, Hitoshi;
Goto, Takahisa

Publication type:

Case Study

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient.

Published in:

Clinical Case Reports, 2019, v. 7, n. 12, p. 2476, doi. 10.1002/ccr3.2511

By:

Kaur, Simranpreet;
Van Bergen, Nicole J.;
Gold, Wendy Anne;
Eggers, Stefanie;
Lunke, Sebastian;
White, Susan M.;
Ellaway, Carolyn;
Christodoulou, John

Publication type:

Article

How reconstructive surgery combined with physiotherapy for a painful nontraumatic patellar dislocation enabled a woman with Rett syndrome to become pain free and remain physically active: A case report.

Published in:

Clinical Case Reports, 2019, v. 7, n. 3, p. 542, doi. 10.1002/ccr3.2013

By:

Svedberg, Lena;
Herngren, Bengt;
Michno, Piotr

Publication type:

Article

De novo mosaic MECP2 mutation in a female with Rett syndrome.

Published in:

Clinical Case Reports, 2019, v. 7, n. 2, p. 366, doi. 10.1002/ccr3.1985

By:

Alexandrou, Angelos;
Papaevripidou, Ioannis;
Alexandrou, Ioanna Maria;
Theodosiou, Athina;
Evangelidou, Paola;
Kousoulidou, Ludmila;
Tanteles, George;
Christophidou‐Anastasiadou, Violetta;
Sismani, Carolina

Publication type:

Article

The Molecular Functions of MeCP2 in Rett Syndrome Pathology.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.624290

By:

Sharifi, Osman;
Yasui, Dag H.

Publication type:

Article

Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study.

Published in:

Molecular Autism, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s13229-023-00566-1

By:

Kostanian, Daria;
Rebreikina, Anna;
Voinova, Victoria;
Sysoeva, Olga

Publication type:

Article

Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS).

Published in:

Journal of Autism & Developmental Disorders, 2025, v. 55, n. 3, p. 997, doi. 10.1007/s10803-024-06238-0

By:

Raspa, Melissa;
Gwaltney, Angela;
Bann, Carla;
von Hehn, Jana;
Benke, Timothy A.;
Marsh, Eric D.;
Peters, Sarika U.;
Ananth, Amitha;
Percy, Alan K.;
Neul, Jeffrey L.

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

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

Clinical Feature and Genetics in Rett Syndrome: A Report on Iranian Patients.

Published in:

Iranian Journal of Child Neurology, 2019, v. 13, n. 4, p. 37

By:

KARIMZADEH, Parvaneh;
KHEIROLLAHI, Majid;
HOUSHMAND, Seyed Massoud;
DADGAR, Sepideh;
ARYANI, Omid;
YAGHINI, Omid

Publication type:

Article

Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome.

Published in:

Iranian Journal of Child Neurology, 2019, v. 13, n. 3, p. 25

By:

NASIRI, Jafar;
SALEHI, Mansoor;
HOSSEINZADEH, Majid;
ZAMANI, Mahdi;
FATTAHPOUR, Shirin;
ARYANI, Omid;
FAZEL NAJAFABADI, Esmat;
JABARZAREH, Maryam;
ASADI, Sara;
GHOIAMREZAPOUR, Tahereh;
SEDGHI, Maryam;
GHORBANI, Fatemeh

Publication type:

Article

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.

Published in:

2016

By:

Mangatt, Meghana;
Wong, Kingsley;
Anderson, Barbara;
Epstein, Amy;
Hodgetts, Stuart;
Leonard, Helen;
Downs, Jenny

Publication type:

journal article

Twenty years of surveillance in Rett syndrome: what does this tell us?

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/1750-1172-9-87

By:

Anderson, Alison;
Wong, Kingsley;
Jacoby, Peter;
Downs, Jenny;
Leonard, Helen

Publication type:

Article

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0960-2

By:

Caffarelli, Carla;
Gonnelli, Stefano;
Pitinca, Maria Dea Tomai;
Camarri, Silvia;
Al Refaie, Antonella;
Hayek, Joussef;
Nuti, Ranuccio

Publication type:

Article