Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

Allen, R. C., Zoghbi, H. Y., Moseley, A., Rosenblatt, H. M., & Belmont, J. W. (1992) · PubMed · Cited by 1,683

An update on clinically applicable diagnostic criteria in Rett syndrome

Hagberg, B. A., Hanefeld, F. A., Percy, A. K., & Skjeldal, O. H. (2002) · European Journal of Paediatric Neurology · doi:10.1053/ejpn.2002.0612 · Cited by 394

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Amir, R. E., den Veyver, I. B. V., Schultz, R., Malicki, D. M., Tran, C. Q., Dahle, E. J., Philippi, A., Tímár, L., Percy, A. K., Motil, K. J., et al. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200005)47:5 · Cited by 351

Rett syndrome in Australia: A review of the epidemiology

Laurvick, C. L., de Klerk, N. H., Bower, C. I., Christodoulou, J., Ravine, D., Ellaway, C., Williamson, S. L., & Leonard, H. (2006) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2005.10.037 · Cited by 345

Williams syndrome: From genotype through to the cognitive phenotype

Donnai, D., & Karmiloff‐Smith, A. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(200022)97:2 · Cited by 314

MECP2 mutations account for most cases of typical forms of Rett syndrome

Bienvenu, T. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1377 · Cited by 303

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location

Cheadle, J. P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.7.1119 · Cited by 288

MECP2 is highly mutated in X-linked mental retardation

Couvert, P. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.9.941 · Cited by 272

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients

Huppke, P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1369 · Cited by 246

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

Hettiarachchi, D., Neththikumara, N. F., Pathirana, B. A. P. S., & Dissanayake, V. H. W. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-019-04230-7 · Cited by 2

Rett syndrome: Novel correlations linking >96% genotype, disease severity, and seizures

Rodriguez, L. M., Percy, A. K., & Cutter, G. (2020) · Translational Science of Rare Diseases · doi:10.3233/trd-200047 · Cited by 2

Communication Skills in Girls with Rett Syndrome

Bartolotta, T. E. (2013) · Springer eBooks · doi:10.1007/978-1-4614-4788-7_195 · Cited by 2

Respiratory Disorders in Rett Syndrome

Spoto, G., Accetta, A. S., Grella, M. G., Modica, I. D., & Nicotera, A. G. (2024) · Current Respiratory Medicine Reviews · doi:10.2174/011573398x284907240426054522 · Cited by 2

Characteristics, Conditions, and Healthcare Service Utilization Patterns of Individuals Diagnosed with Rett Syndrome: An Analysis of Administrative Claims Data

Davis, T., Parab, P., May, D. M., & Ruetsch, C. R. (2023) · Future Rare Diseases · doi:10.2217/frd-2022-0022 · Cited by 1

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

Sal, A. D., Haumont, E., Pigeolet, M., Gaumé, M., Riouallon, G., Bahi‐Buisson, N., Linglart, A., Desguerre, I., Pannier, S., & Miladi, L. (2025) · Journal of Clinical Medicine · doi:10.3390/jcm14030849 · Cited by 1

Genotype–Phenotype Correlation and Therapeutic Amenability in a Cohort of Rett Syndrome Patients: A Single-Center Study

Lazek, R. A., Karoum, A., & Fathalla, W. M. (2025) · Cureus · doi:10.7759/cureus.86953 · Cited by 1

Rett syndrome: a complex disorder with promising therapeutic prospects

Sandakly, J., Frasca, A., & Landsberger, N. (2025) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2025.06.006 · Cited by 1

Natural history of epilepsy in FOXG1 Syndrome

Rhodes, C., Rees, B. W., Dubbs, H. A., Lesser, M., Morgan, L. E., Benke, T. A., Percy, A. K., Neul, J. L., & Marsh, E. D. (2025) · Epilepsy Research · doi:10.1016/j.eplepsyres.2025.107644 · Cited by 1

Evaluating the utility of growth differentiation factor 15 and fibroblast growth factor 21 as blood biomarkers for Rett syndrome

Hertzog, A., Tolun, A. A., Wykes, A. D., Brown, D. A., Breit, S. N., Ellaway, C., Ho, G., & Gold, W. A. (2025) · Scientific Reports · doi:10.1038/s41598-025-20005-w · Cited by 1

Utility of the Rett syndrome behavior questionnaire (RSBQ) for Japanese patients with Rett syndrome: A pilot study

Sato, M., Yamaki, H., Kawano, G., Tanaka, Y., Isooka, A., Yamashita, D., Akita, Y., Eshima, N., Takahashi, T., & Matsuishi, T. (2026) · Brain and Development · doi:10.1016/j.braindev.2026.104531 · Cited by 1

DNA methylation, nucleic acid structure, and rett mutations tune MeCP2 binding affinity and cooperativity

Melikishvili, M., Rea, M., Capan, C. D., Lee, H., Chandler, D. P., & Fondufe‐Mittendorf, Y. N. (2026) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2026.113227 · Cited by 1

Molecular analysis of MECP2 gene in Egyptian patients with Rett syndrome

Zaki, M. S., El-Din, W. E. S., Hamdy, G. M., Kamal, I. H., & Aleem, A. K. A. (2011) · Egyptian Journal of Medical Human Genetics · doi:10.1016/j.ejmhg.2011.11.004 · Cited by 1

Genotype–phenotype relationship among Egyptian children with Rett syndrome

Mansour, L., Elsobky, E. S., Mohamed, S. M., Marzouk, H., & Tarek, L. (2015) · Journal of the Egyptian Public Health Association · doi:10.1097/01.epx.0000469901.73624.7a · Cited by 1

Rett Syndrome: Seeing the Way Forward

Percy, A. K. (2016) · Springer eBooks · doi:10.1007/978-3-319-18096-0_65 · Cited by 1

The Function of MeCP2 and Its Causality in Rett Syndrome

Lamonica, J. M., & Zhou, Z. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800109-7.00007-8 · Cited by 1

From Molecular Pathways to ASD Therapy: Insights from Syndromic Forms of Autism

Nicholls, L. E., Ramadas, R., & Voineagu, I. (2014) · WORLD SCIENTIFIC eBooks · doi:10.1142/9789814602167_0002 · Cited by 1

Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate

Yue, C., Lee, S. S. Y., Shillington, A., Du, X., Fok, C. K. M., Yeung, K. C., Siu, G. K. Y., Yuan, S., Zheng, Z., Tsang, H. W. S., et al. (2023) · IBRO Neuroscience Reports · doi:10.1016/j.ibneur.2023.09.007 · Cited by 1

Review of Sleep Disorders and Therapeutic Approaches in Patients With Autism Spectrum Disorder and Rett Syndrome

Bricker, K., & Vaughn, B. V. (2024) · Sleep Medicine Research · doi:10.17241/smr.2024.02509 · Cited by 1

The Management of Bone Defects in Rett Syndrome

Caffarelli, C., & Gonnelli, S. (2025) · Calcified Tissue International · doi:10.1007/s00223-024-01322-0 · Cited by 3

Human MeCP2 binds to promoters and inhibits transcription in an unmethylated yeast genome

Brown, J. A. R., Ling, M. Y. M., Ausió, J., & Howe, L. J. (2025) · Genetics · doi:10.1093/genetics/iyaf043 · Cited by 1

Pathological Synaptic Plasticity in Neurological Disorders

Jin, C., & Karlstedt, K. (2025) · Synaptic Plasticity - Neurobiology, Neuroanatomy, and Clinical Neuroscience · doi:10.5772/intechopen.1007753 · Cited by 1

Insight Into Autonomic Dysfunctions With Novel Interventions: Focusing On Vascular Tone And Breathing Regulations

Zhang, S. (2016) · Digital Archive @ GSU · doi:10.57709/8486904 · Cited by 1

Application of Chromosome Conformation Capture (3C) to the Study of Human Genetic Disease

Horan, M. P., & Ballard, J. W. O. (2012) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0024383 · Cited by 1

Health-enhancing participation in girls and women with Rett syndrome - a balancing act

Stahlhut, M. (2018) · Lund University Publications (Lund University) · Cited by 1

Validation of a screening instrument for autism spectrum disorders among primary school children in Ireland

Boilson, A. M. (2013) · Arrow@dit (Dublin Institute of Technology)

Rett syndrome and MECP2 and CDKL5 genotypes

Glaze, D. G. (2011) · Cambridge University Press eBooks · doi:10.1017/cbo9780511921001.036

Rett syndrome: Neurologic and metabolic aspects

Hagebeuk, E. E. O. (2013) · Data Archiving and Networked Services (DANS)

Epilepsia no Síndrome de Rett - análise de uma casuística portuguesa com mutação genética identificada

Lourenço, D. H. (2011) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · doi:10.34626/b5p4-vs81

Defining and Diagnosing Rett Syndrome: Correlating Symptoms and Pathogenesis with Autism

Percy, A. K., Chapleau, C., Lane, J. B., & Pozzo‐Miller, L. D. (2013) · Springer eBooks · doi:10.1007/978-1-4614-4788-7_88

Gross motor abilities and interventions in girls and women with Rett syndrome: A literature review ; Longitudinal video analysis of gross motor abilities of girls and women with Rett syndrome

Foley, K. (2009) · Australasian Journal of Paramedicine

EXAMINATION OF NMDA RECEPTOR SUBUNIT PREVALENCE AND DISTRIBUTION IN CRUDE SYNAPTIC MEMBRANES PURIFIED FROM A MOUSE MODEL OF RETT SYNDROME.

Maliszewska‐Cyna, E. (2010) · TSpace (University of Toronto)

Health-related quality of life and depression in Rett syndrome caregivers Kvalitet ivota i depresija kod roditelja dece obolele od Retovog sindroma

Sarajlija, A., & Djuri, M. (2013)

Developing novel therapeutic strategies for Rett syndrome

Ross, P. D. (2016) · Enlighten: Theses (The University of Glasgow)

Developmental Delay: Gene Testing

Collins, C. D., Basehore, M. J., Champion, K. J., & Friez, M. J. (2016) · Springer eBooks · doi:10.1007/978-3-319-19674-9_7

Deciphering X-chromosome inactivation and the role of MECP2e1 in Rett Syndrome patient induced pluripotent stem cells

Cheung, A. Y. L. (2013) · TSpace (University of Toronto)

MECP2 duplication and mutations impair NSCs differentiation via miR-197 regulated ADAM10Preprint

Wang, Y.-M., Zheng, Y.-F., Yang, S.-Y., Yang, Z.-M., Zhang, L.-N., He, Y.-Q., Gong, X.-H., Liu, D., Finnell, R., Qiu, Z.-L., et al. (2018) · bioRxiv · doi:10.1101/312983 · Cited by 1

Rett Syndrome and Stem Cell Research

Tsujimura, K., & Nakashima, K. (2018) · Springer eBooks · doi:10.1007/978-3-319-90695-9_3

Molecular Dynamic Simulations Suggest that P152R Mutation Within MeCP2 Can Lead to Higher DNA Binding Affinity and Loss of Selective Binding to Methylated DNA

Franklin, D. (2018) · Advances in intelligent systems and computing · doi:10.1007/978-3-319-98702-6_4

レット症候群児(者)の手の常同運動を減らす取り組みの実態

平野, 大., & 谷口, 敬. (2019) · 日本重症心身障害学会誌 · doi:10.24635/jsmid.44.1_221

Loss of O-GlcNAcylation on MeCP2 Thr 203 Leads to Neurodevelopmental DisordersPreprint

Cheng, J., Zhao, Z., Chen, L.-P., Du, R., Wu, Y., Zhu, Q., Fan, M., Duan, X., & Wu, H. (2020) · bioRxiv · doi:10.1101/2020.06.17.158311

Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent

Kamdar, P., Thomas, M. M., Yoganathan, S., Muthusamy, K., Koshy, B., Oommen, S. P., Aaron, R., Barney, A. M., Abraham, S. S. C., & Danda, S. (2020) · Journal of Genetics · doi:10.1007/s12041-020-01244-4

Lung Defects Contribute to Respiratory Symptoms in a Mecp2-mutant Mouse Model of Rett Syndrome

Vashi, N. (2021) · TSpace (University of Toronto)

Rett's Syndrome

Percy, A. K. (2014) · Encyclopedia of the Neurological Sciences · doi:10.1016/b978-0-12-385157-4.01051-4

Transcriptomic and epigenetic changes after the phenotypic rescue of a Rett Syndrome mouse model

Vargas-Landín, D. B. (2021) · UWA Profiles and Research Repository (UWA) · doi:10.26182/9kh2-8h70

Sindrome di Rett

Cianci, P., Picchi, R., Armano, C., & Selicorni, A. (2021) · Medico e Bambino · doi:10.53126/meb40519

Introducing, OncoTarget

Blagosklonny, M. V., & Gudkov, A. V. (2010) · Oncotarget · doi:10.18632/oncotarget.18947

Introducing, OncoTarget

Blagosklonny, M. V., & Gudkov, A. V. (2010) · Oncotarget · doi:10.18632/oncotarget.18942

Introducing, OncoTarget

Blagosklonny, M. V., & Gudkov, A. V. (2010) · Oncotarget · doi:10.18632/oncotarget.18953

Introducing, OncoTarget

Blagosklonny, M. V., & Gudkov, A. V. (2010) · Oncotarget · doi:10.18632/oncotarget.18940

Introducing, OncoTarget

Blagosklonny, M. V., & Gudkov, A. V. (2010) · Oncotarget · doi:10.18632/oncotarget.18794

Introducing, OncoTarget

Blagosklonny, M. V., & Gudkov, A. V. (2010) · Oncotarget · doi:10.18632/oncotarget.18944

Introducing, OncoTarget

Blagosklonny, M. V., & Gudkov, A. V. (2010) · Oncotarget · doi:10.18632/oncotarget.18938

Rett Syndrome☆

Percy, A. K. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-809324-5.04291-7

Role of MeCP2 in oligodendrocyte lineage cells in Rett syndrome: review and inference

Zhang, Z., Li, P., & Chen, Y. (2023) · Ageing and Neurodegenerative Diseases · doi:10.20517/and.2023.13

The role of Methyl-CpG binding domain 3 (Mbd3) in epileptogenesisPreprint

Niźinska, K., Olszewski, M., Binias, S., Nowicka, D., Szydłowska, K., Nazaruk, K., Wojtaś, B., & Łukasiuk, K. (2023) · Research Square · doi:10.21203/rs.3.rs-3538252/v1

Síndrome de Rett en un lactante varón con variante patogénica en MECP2

Cote-Orozco, J. E., Córdoba, N. M., Rivera, I. L., & Córdoba-Gravini, J. L. (2023) · Revista Mexicana de Pediatría · doi:10.35366/114766

Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients

Galán‐Olleros, M., Alguacil, E. G., Insuga, V. M. S., Vara-Arias, M. T., Cabrera, N. V. O., Serrano, J. I., Egea-Gámez, R. M., Garcı́a-Peñas, J. J., Martínez-Caballero, I., Esteras, S. A., et al. (2024) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-024-06399-y

Rett syndrome: A coming of age

Percy, A. K. (2024) · Translational Science of Rare Diseases · doi:10.3233/trd-240069

Integrated gene expression and alternative splicing analysis in human and mouse models of Rett SyndromePreprint

Gioiosa, S., Gasparini, S., Presutti, C., Rinaldi, A., Castrignanò, T., & Mannironi, C. (2024) · Research Square · doi:10.21203/rs.3.rs-4895075/v1

Approach to diagnosis and management of genetic neurodevelopmental disorders

Mo, A., Oanea, M., Cohen, J. S., Rodan, L. H., & Srivastava, S. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-824060-1.00002-x

2024 IRSF Rett Syndrome Scientific Meeting June 18-19, 2024, Westminster, Colorado, USA

Garg, N., Broccoli, V., Cobb, S., Meyer, K., & Pozzo‐Miller, L. D. (2024) · Translational Science of Rare Diseases · doi:10.1177/22146490241305261

Diffuse but Non-homogeneous Brain Atrophy: Identification of Specific Brain Regions and Their Correlation with Clinical Severity in Rett Syndrome

Narita, H., Natsume, J., Suzuki, T., Shiohama, T., Kawaguchi, M., Okazaki, M., Hashizume, A., Naganawa, S., Ito, Y., Yamamoto, H., et al. (2025) · Brain and Development · doi:10.1016/j.braindev.2025.104348

Treatment of Neurodevelopmental Disorders

van Karnebeek, C., Berry‐Kravis, E., & Gropman, A. L. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-10944-7.00079-2

Altered oscillatory coupling reflects possible inhibitory interneuron dysfunction in Rett syndromePreprint

Kranz, D., Braverman, Y., McCarthy, M. M., Mackay, C. E., Sabol, K. N., Benke, T. A., Lieberman, D. N., Marsh, E. D., Neul, J. L., Peck, F. C., et al. (2025) · medRxiv · doi:10.1101/2025.07.21.25331927 · Cited by 1

Letter to the Editor regarding: “Clinical and functional outcomes in pediatric patients with Rett syndrome: a 15-year retrospective study”

Ullah, S. (2025) · European Journal of Pediatrics · doi:10.1007/s00431-025-06356-6

Rett Syndrome: Specific MECP2 Variants are Associated With Elevated Serum Neurofilament Light Chain

Hirn, E., Huppke, B., Wilken, B., Kiehntopf, M., & Huppke, P. (2025) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2025.07.016

Cyclin-dependent kinase-like 5 (CDKL5) binds to talin and is anchored at the postsynaptic density via direct interaction with PDZ domainsPreprint

Otani, Y., Goodall, E., Srinivasan, V., Ball, N. J., Barnett, S. F. H., Zech, T., Saarikangas, J., & Goult, B. T. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.08.27.672337

Atypical Rett syndrome with chorea: a case report

Erdogan, M., Olinger, E. G., & Santos, S. F. (2025) · Acta Neurologica Belgica · doi:10.1007/s13760-025-02901-0

Biomarkers of Lipid Oxidative Damage in Rett Syndrome

Felice, C. D., Signorini, C., Leoncini, S., Pecorelli, A., Durand, T., Galano, J., Oger, C., Bultel‐Poncé, V., Valacchi, G., Ciccoli, L., et al. (2013) · Springer eBooks · doi:10.1007/978-1-4614-4788-7_197

Additional file 2 of Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study

Neul, J. L., Benke, T. A., Marsh, E. D., Suter, B., Silveira, L., Fu, C., Peters, S. U., & Percy, A. K. (2024) · Figshare · doi:10.6084/m9.figshare.24310000

Additional file 1 of 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

May, D. M., Kponee-Shovein, K., Neul, J. L., Percy, A. K., Mahendran, M., Downes, N., Chen, G., Watson, T., Pichard, D. C., Kennedy, M., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26754100

Additional file 1 of Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study

Kostanian, D. G., Rebreikina, A. B., Voinova, V., & Sysoeva, O. (2023) · Figshare · doi:10.6084/m9.figshare.24447530

Additional file 1 of Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study

Neul, J. L., Benke, T. A., Marsh, E. D., Suter, B., Silveira, L., Fu, C., Peters, S. U., & Percy, A. K. (2023) · Figshare · doi:10.6084/m9.figshare.24309896

Additional file 1 of Cortisol profiles and clinical severity in MECP2 duplication syndrome

Peters, S. U., Fu, C., Neul, J. L., & Granger, D. A. (2020) · Figshare · doi:10.6084/m9.figshare.12695574

Additional file 1 of Is trofinetide a future treatment for Rett syndrome? A comprehensive systematic review and meta-analysis of randomized controlled trials

Mohammed, H. E., Bady, Z. A. M., Haseeb, M. E., Aboeldahab, H. A., Sharaf-Eldin, W. E., & Zaki, M. S. (2024) · Figshare · doi:10.6084/m9.figshare.26322596

Advances in Stem Cell Research for MECP2-Related Disorders

Akaba, Y., Takahashi, S., & Tsujimura, K. (2025) · Stem cell biology and regenerative medicine · doi:10.1007/978-3-031-94101-6_2

Transcranial Photobiomodulation in Rett Syndrome: A Mechanistic Review and Therapeutic Hypothesis

Luchese, F., Lohmann, C., Ferreras, B. I., & Cassano, P. (2026) · Photobiomodulation Photomedicine and Laser Surgery · doi:10.1177/25785478251415480

Rôle de la protéine phosphatase 1 dans les mécanismes d’action de la cocaïne et implication des modifications épigénétiques dans sa régulation

Bodetto, S. P. (2012) · theses.fr (ABES) · doi:10.70675/39e6446bzd647z4662z8416zc90f6a4c240b

Deux syndromes, un même gène : conséquences d'un mauvais dosage de MeCP2 sur la transmission synaptique et le comportement chez la souris

Khoury, R. E. (2013) · theses.fr (ABES) · doi:10.70675/4919ce75zd372z4d0aza0f1zb77a70b7a466

Stratégies de stimulation du transport axonal endogène du Bdnf comme piste thérapeutique dans le syndrome de Rett

Ehinger, Y. (2018) · theses.fr (ABES) · doi:10.70675/b9d2d0e4z8d00z4bcfza57bz31ca5ed1866c

The chloride/potassium co-transporter KCC2 in synaptic plasticity, hippocampal rhythmogenesis and memory

Simonnet, C. (2019) · theses.fr (ABES) · doi:10.70675/dcc67be7z8c6dz47b5z92e8z4d75367bfd48

Syndrome de Rett et implication des organes périphériques : de la physiopathologie à la thérapie

Borloz, E. (2021) · theses.fr (ABES) · doi:10.70675/6910a242za2edz4509zbc5aze548081377dd

Régulation de la chromatine par SMCHD1 : implication dans la dystrophie facio-scapulo-humérale et le syndrome d'arhinie et de microphtalmie de Bosma

Laberthonnìère, C. (2021) · theses.fr (ABES) · doi:10.70675/cbab8417z11f2z4456zb805z9876e7d9b073

Etude de la contribution de l'hormone adipocytaire leptine dans la pathogenèse du syndrome de Rett

Belaïdouni, Y. (2022) · theses.fr (ABES) · doi:10.70675/f69d2875zfa9fz4465z917eza8e7b93935c6

Atypical social behaviors in mouse models for Rett syndrome

Acevedo-Triana, C. A., Medeiros, D., Gonçalez, J. L., Li, W., & Pozzo‐Miller, L. D. (2026) · Frontiers in Neurology · doi:10.3389/fneur.2026.1744450

Clinical experience using trofinetide in Rett syndrome and related MECP2 diagnosis at the children’s hospital of Philadelphia post approval

Prange, E. O., Fleysh, D., Reddy, K., Dubbs, H. A., & Marsh, E. D. (2026) · Frontiers in Neurology · doi:10.3389/fneur.2026.1776146

MECP2 Variant Spectrum and Genotype–Phenotype Correlations in Iranian Rett Syndrome Patients: Identification of a Novel Frameshift Mutation

Booalizadeh, P., Salahshourifar, I., Rabbani, B., Rezvani, M., Ashrafi, M. R., & Mahdieh, N. (2026) · Journal of Molecular Neuroscience · doi:10.1007/s12031-026-02545-6

Rett syndrome lifespan extension in mice via AI-guided ADAR editingPreprint

Savva, Y. A., Booth, B. J., Shumaker, L. R., Fasnacht, R. D., Burleigh, S. M., Jiang, Y., Cao, Y., Johnson, B., Bagepalli, L. R., Golic, F., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.23.734060

Recent advances in epigenetic therapeutics for Rett syndrome: from mechanisms to clinical trials

Zhao, C., Huang, Z., Li, R., Hua, L., Li, H., & Wang, B. (2026) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2026.1835425 · Cited by 1

Nadir Hastalıklarda Kalıtım Modelleri: Moleküler Patogenez, Genotip–Fenotip İlişkileri ve Hassas Tıp Perspektifleri

Bayramcı, N. S., & Yavuz, D. (2026) · Özgür Yayınları eBooks · doi:10.58830/ozgur.pub1358.c5468

Speech, language, social communication, and communication assessments in Rett syndrome: A systematic review

Raniolo, L. N., Braden, R. O., von Hehn, J., Christodoulou, J., Lieberman, D. N., Amor, D. J., & Vogel, A. P. (2026) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.70429

Carotid body dysfunction contributes to respiratory instability in Rett syndrome

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Genetics of Autism

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