Works matching Rett syndrome

Results: 2281

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

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 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

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

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

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

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

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

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

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

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

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

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

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

Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 9, p. 4085, doi. 10.1007/s00431-024-05668-3

By:

Berger, Tal David;
Fogel Berger, Chen;
Gara, Sewar;
Ben-Zeev, Bruria;
Weiss, Batia

Publication type:

Article

The diagnosis of autism in a female: could it be Rett syndrome?

Published in:

2008

By:

Young, Deidra J.;
Bebbington, Ami;
Anderson, Alison;
Ravine, David;
Ellaway, Carolyn;
Kulkarni, Alpana;
De Klerk, Nick;
Kaufmann, Walter E.;
Leonard, Helen

Publication type:

journal article

Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome.

Published in:

2005

By:

Zappella, Michele;
Mari, Francesca;
Renieri, Alessandra

Publication type:

Letter

Two sides of the same coin: NEO-PUFAs in Rett syndrome and post-infarction cardiac arrhythmias.

Published in:

European Journal of Lipid Science & Technology, 2017, v. 119, n. 6, p. n/a, doi. 10.1002/ejlt.201600320

By:

Demion, Marie;
Oger, Camille;
Vigor, Claire;
Thireau, Jérôme;
Guennec, Jean‐Yves Le;
Durand, Thierry;
Galano, Jean‐Marie;
Lee, Jetty Chung‐Yung

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

Sensory Integration and Functional Reaching in Children With Rett Syndrome/Rett-Related Disorders.

Published in:

Clinical Medicine Insights: Pediatrics, 2019, v. 13, p. N.PAG, doi. 10.1177/1179556519871952

By:

Drobnyk, Wendy;
Rocco, Karen;
Davidson, Sara;
Bruce, Susan;
Zhang, Fang;
Soumerai, Stephen B

Publication type:

Article

Diet and Nutritional Status of Polish Girls with Rett Syndrome—A Case-Control Study.

Published in:

Nutrients, 2023, v. 15, n. 15, p. 3334, doi. 10.3390/nu15153334

By:

Czerwonogrodzka-Senczyna, Aneta;
Milewska, Magdalena;
Kwiecień, Paweł;
Szczałuba, Krzysztof

Publication type:

Article

Otoacoustic Emission Findings in Rett Syndrome.

Published in:

Journal of the American Academy of Audiology, 1999, v. 10, n. 8, p. 436, doi. 10.1055/s-0042-1748517

By:

Nicholas, Sarah;
Kei, Joseph;
Woodyatt, Gail;
McPherson, Bradley

Publication type:

Article

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1577, doi. 10.1038/ejhg.2009.95

By:

Jacob, Francois Dominique;
Ramaswamy, Vijay;
Andersen, John;
Bolduc, Francois V.

Publication type:

Article

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1189, doi. 10.1038/sj.ejhg.5201682

By:

Knudsen, Gun Peggy S.;
Neilson, Tracey C. S.;
Pedersen, June;
Kerr, Alison;
Schwartz, Marianne;
Hulten, Maj;
Bailey, Mark E. S.;
Ørstavik, Karen Helene

Publication type:

Article

p.R270X MECP2 mutation and mortality in Rett syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1235, doi. 10.1038/sj.ejhg.5201479

By:

Le Jian;
Archer, Hayley L.;
Ravine, David;
Kerr, Alison;
de Klerk, Nick;
Christodoulou, John;
Bailey, Mark E. S.;
Laurvick, Crystal;
Leonard, Helen

Publication type:

Article

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0412-2

By:

Vorsanova, Svetlana G.;
Yurov, Yuri B.;
Iourov, Ivan Y.;
Bertrand, Thomas

Publication type:

Article

SINDROMUL RETT.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2009, v. 58, n. 3, p. 254

By:

Popescu, Valeriu;
Zamfirescu, Andrei

Publication type:

Article

A perspective on "cure" for Rett syndrome.

Published in:

2018

By:

Clarke, Angus John;
Abdala Sheikh, Ana Paula

Publication type:

journal article

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial.

Published in:

2018

By:

Downs, Jenny;
Rodger, Jenny;
Li, Chen;
Tan, Xuesong;
Hu, Nan;
Wong, Kingsley;
de Klerk, Nicholas;
Leonard, Helen

Publication type:

journal article

Oral health experiences of individuals with Rett syndrome: a retrospective study.

Published in:

BMC Oral Health, 2018, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12903-018-0651-y

By:

Lai, Y.Y.L.;
Wong, K.;
King, N. M.;
Downs, J.;
Leonard, H.

Publication type:

Article

Health-related quality of life and depression in Rett syndrome caregivers.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2013, v. 70, n. 9, p. 842, doi. 10.2298/VSP1309842S

By:

Sarajlija, Adrijan;
Djurić, Milena;
Tepavčević, Darija Kisić

Publication type:

Article

Prenatal diagnosis in Rett syndrome.

Published in:

2002

By:

Armstrong, J.;
Aibar, E.;
Pineda, M.;
Pérez, M.M.;
Geán, E.;
Carrera, M.;
Casas, C.;
Martínez, F.;
Monrós, E.;
Pérez, M M;
Geán, E;
Martínez, F;
Monrós, E

Publication type:

journal 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

Microvascular abnormalities in Rett syndrome.

Published in:

2013

By:

Bianciardi, G.;
Acampa, M.;
Lamberti, I.;
Sartini, S.;
Servi, M.;
Biagi, F.;
Bocchi, V.;
Hayek, J.;
Pastorelli, M.

Publication type:

Letter

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

Development of trofinetide for the treatment of Rett syndrome: from bench to bedside.

Published in:

Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2023.1341746

By:

Kennedy, Melissa;
Glass, Larry;
Glaze, Daniel G.;
Kaminsky, Steve;
Percy, Alan K.;
Neul, Jeffrey L.;
Jones, Nancy E.;
Tropea, Daniela;
Horrigan, Joseph P.;
Nues, Paige;
Bishop, Kathie M.;
Youakim, James M.

Publication type:

Article

Trofinetide--a new chapter in rett syndrome's treatment.

Published in:

Frontiers in Pharmacology, 2023, p. 01, doi. 10.3389/fphar.2023.1284035

By:

Furqan, Muhammad

Publication type:

Article

Access to Oral Healthcare in Individuals With Rett Syndrome: A Qualitative Study of Parent Perspectives.

Published in:

Journal of Intellectual Disability Research, 2025, v. 69, n. 5, p. 403, doi. 10.1111/jir.13222

By:

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

Publication type:

Article

Preliminary assessment of the reliability and validity of infrared skin temperature measurements in Rett syndrome.

Published in:

Journal of Intellectual Disability Research, 2023, v. 67, n. 4, p. 387, doi. 10.1111/jir.13010

By:

Byiers, B. J.;
Merbler, A. M.;
Burkitt, C. C.;
Beisang, A.;
Symons, F. J.

Publication type:

Article