Works matching Rett syndrome

Results: 2311

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

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

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 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

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

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

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

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

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

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

The Ketogenic Diet: An Underrecognized Therapy for Rett Syndrome.

Published in:

Journal of Child Neurology, 2025, v. 40, n. 7, p. 530, doi. 10.1177/08830738251329139

By:

Haridas, Babitha;
Bessone, Stacey;
Turner, Zahava;
Kossoff, Eric

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

R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report.

Published in:

Clinical Pathology, 2022, v. 15, p. 1, doi. 10.1177/2632010X221124269

By:

Bouzroud, Wafaa;
Tazzite, Amal;
Berrada, Sarah;
Gazzaz, Bouchaïb;
Dehbi, Hind

Publication type:

Article

R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report.

Published in:

Clinical Pathology, 2022, v. 15, p. 1, doi. 10.1177/2632010x221124269

By:

Bouzroud, Wafaa;
Tazzite, Amal;
Berrada, Sarah;
Gazzaz, Bouchaïb;
Dehbi, Hind

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

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

Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience.

Published in:

Journal of Intellectual & Developmental Disability, 2024, v. 49, n. 1, p. 11, doi. 10.3109/13668250.2023.2225353

By:

Gray, Caitlin;
Leonard, Helen;
Wong, Kingsley;
Reed, Sally;
Schmidt, Kate;
Skoss, Rachel;
Li, Jianghong;
Salt, Alison;
Bourke, Jenny;
Glasson, Emma J.

Publication type:

Article

Community participation: Conversations with parent-carers of young women with Rett syndrome.

Published in:

Journal of Intellectual & Developmental Disability, 2014, v. 39, n. 3, p. 243, doi. 10.3109/13668250.2014.909919

By:

Walker, Ellen M.;
Crawford, Frances;
Leonard, Helen

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

Evoked Potentials and EEG Analysis in Rett Syndrome and Related Developmental Encephalopathies: Towards a Biomarker for Translational Research.

Published in:

Frontiers in Integrative Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fnint.2020.00030

By:

Saby, Joni N.;
Peters, Sarika U.;
Roberts, Timothy P. L.;
Nelson, Charles A.;
Marsh, Eric D.

Publication type:

Article

International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA.

Published in:

Trials, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s13063-024-08678-6

By:

Downs, Jenny;
Pichard, Dominique C.;
Kaufmann, Walter E.;
Horrigan, Joseph P.;
Raspa, Melissa;
Townend, Gillian;
Marsh, Eric D.;
Leonard, Helen;
Motil, Kathleen;
Dietz, Andrew C.;
Garg, Nupur;
Ananth, Amitha;
Byiers, Breanne;
Peters, Sarika;
Beatty, Christopher;
Symons, Frank;
Jacobs, Aleksandra;
Youakim, James;
Suter, Bernhard;
Santosh, Paramola

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

Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome.

Published in:

Journal of Translational Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12967-023-04622-5

By:

Musokhranova, Uliana;
Grau, Cristina;
Vergara, Cristina;
Rodríguez-Pascau, Laura;
Xiol, Clara;
Castells, Alba A.;
Alcántara, Soledad;
Rodríguez-Pombo, Pilar;
Pizcueta, Pilar;
Martinell, Marc;
García-Cazorla, Angels;
Oyarzábal, Alfonso

Publication type:

Article

Dendrimer-mediated delivery of N-acetyl cysteine to microglia in a mouse model of Rett syndrome.

Published in:

2017

By:

Nance, Elizabeth;
Kambhampati, Siva P.;
Smith, Elizabeth S.;
Zhi Zhang;
Fan Zhang;
Singh, Sarabdeep;
Johnston, Michael V.;
Rangaramanujam, Kannan;
Blue, Mary E.;
Kannan, Sujatha;
Zhang, Zhi;
Zhang, Fan;
Kannan, Rangaramanujam M

Publication type:

journal article

ASSISTIVE TECHNOLOGY ADAPTATION IN OCCUPATIONAL THERAPY WHICH PATIENT WITH RETT SYNDROME: CASE STUDY.

Published in:

Journal of Exercise Therapy & Rehabilitation, 2018, v. 5, p. S108

By:

AYDIN, MERVE ŞUAY;
ZAKERNAH, MAHMOUD;
SALAR, SİNEM;
TORPİL, BERKAN;
ALTUNTAŞ, ONUR;
UYANIK, MİNE

Publication type:

Article

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

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

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

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

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

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

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 IRONIES OF HUMAN MIND: A CASE OF RETT SYNDROME.

Published in:

2014

By:

Chattopadhyay, Sayan;
Arora, Rachita

Publication type:

Case Study

Parent and therapist perspectives on "uptime" activities and participation in Rett syndrome.

Published in:

Disability & Rehabilitation, 2022, v. 44, n. 24, p. 7420, doi. 10.1080/09638288.2021.1992026

By:

Buckley, Nicholas;
Stahlhut, Michelle;
Elefant, Cochavit;
Leonard, Helen;
Lotan, Meir;
Downs, Jenny

Publication type:

Article

Characteristic behaviors associated with gait of individuals with Rett syndrome.

Published in:

Disability & Rehabilitation, 2022, v. 44, n. 8, p. 1508, doi. 10.1080/09638288.2020.1820084

By:

Young, David R.;
Suter, Bernhard;
Levine, Jackson T.;
Glaze, Daniel G.;
Layne, Charles S.

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

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

Updated systematic-narrative review on communication intervention in Rett Syndrome: 2010–2022.

Published in:

AAC: Augmentative & Alternative Communication, 2023, v. 39, n. 4, p. 241, doi. 10.1080/07434618.2023.2215864

By:

Sigafoos, Jeff;
Roche, Laura;
O'Reilly, Mark F.;
Lancioni, Giulio E.;
Marschik, Peter B.

Publication type:

Article

Development of a tool to assess visual attention in Rett syndrome: a pilot study.

Published in:

AAC: Augmentative & Alternative Communication, 2020, v. 36, n. 2, p. 118, doi. 10.1080/07434618.2020.1798507

By:

Wandin, Helena;
Lindberg, Per;
Sonnander, Karin

Publication type:

Article

Development of consensus-based guidelines for managing communication of individuals with Rett syndrome.

Published in:

AAC: Augmentative & Alternative Communication, 2020, v. 36, n. 2, p. 71, doi. 10.1080/07434618.2020.1785009

By:

Townend, Gillian S.;
Bartolotta, Theresa E.;
Urbanowicz, Anna;
Wandin, Helena;
Curfs, Leopold M.G.

Publication type:

Article