Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
Open accessAbstract
Objective To determine if a relationship exists between the clinical features of Rett syndrome, an X-linked dominant neurodevelopmental disorder, and specific mutations in MECP2. Method Cross-sectional study of 245 girls and women with typical Rett syndrome seen between 1990 and 2004 in tertiary academic outpatient specialty clinics and who had complete MECP2 mutation analysis. A structured clinical evaluation was completed for each participant. The results were grouped by MECP2 mutation and compared. Results Participants with the R133C mutation are less severely affected than those with R168X or large DNA deletions (p Conclusions Specific mutations in MECP2 confer different severity. These results allow the design of therapies targeted toward the amelioration of expected problems. Furthermore, the distinct effects of MECP2 mutations on clinical severity must be considered in clinical intervention trials.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
MECP2 mutation status is a strong predictor of disease severity.
“Therefore, MECP2 mutation status is a strong predictor of disease severity, but phenotype variation commonly occurs between individuals with the same MECP2 mutation and is attributed to differences in X chromosome inactivation (XCI) [97].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [38]
Mutations in MECP2 account for 95% of typical RTT cases.
“It is now well established that mutations in MECP2 account for 95% of typical RTT cases and commonly occur de novo [36–38].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [38]
MECP2 mutations commonly occur de novo.
“It is now well established that mutations in MECP2 account for 95% of typical RTT cases and commonly occur de novo [36–38].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [38]
Rett syndrome is a neurological disorder caused by mutations in the X-linked gene MECP2.
“Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator.”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [38]
Cites
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 · see citing works
Self-citationAllen, R. C., Zoghbi, H. Y., Moseley, A., Rosenblatt, H. M., & Belmont, J. W. (1992) · PubMed · Cited by 1,683 · see citing works
Self-citationAn association between migraine and cutaneous allodynia
Burstein, R., Yarnitsky, D., Goor‐Aryeh, I., Ransil, B. J., & Bajwa, Z. H. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200005)47:5 · Cited by 1,013 · see citing works
Self-citationAn 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 · see citing works
Self-citationRett 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 340 · see citing works
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 305 · see citing works
Cheadle, J. P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.7.1119 · Cited by 290 · see citing works
MECP2 is highly mutated in X-linked mental retardation
Couvert, P. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.9.941 · Cited by 276 · see citing works
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 · see citing works
Identification of MeCP2 mutations in a series of females with autistic disorder
Carney, R. M., Wolpert, C. M., Ravan, S. A., Shahbazian, M. D., Ashley‐Koch, A. E., Cuccaro, M. L., Vance, J. M., & Pericak‐Vance, M. A. (2003) · Pediatric Neurology · doi:10.1016/s0887-8994(02)00624-0 · Cited by 234 · see citing works
Watson, P., Black, G. C. M., Ramsden, S., Barrow, M., Super, M., Kerr, B. A., & Clayton‐Smith, J. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.4.224 · Cited by 210 · see citing works
Swillen, A., Vogels, A., Devriendt, K., & Fryns, J. P. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(200022)97:2 · Cited by 188 · see citing works
Self-citationBuyse, I. M., Fang, P., Hoon, K. T., Amir, R. E., Zoghbi, H. Y., & Roa, B. B. (2000) · The American Journal of Human Genetics · doi:10.1086/316913 · Cited by 167 · see citing works
Self-citationRett Syndrome: A Prototypical Neurodevelopmental Disorder
Neul, J. L., & Zoghbi, H. Y. (2004) · The Neuroscientist · doi:10.1177/1073858403260995 · Cited by 166 · see citing works
Self-citationNeurophysiology of Rett Syndrome
Glaze, D. G. (2005) · Journal of Child Neurology · doi:10.1177/08830738050200090801 · Cited by 144 · see citing works
Self-citationShibayama, A., Cook, E. H., Feng, J., Glanzmann, C., Jin, Y., Craddock, N. J., Jones, I. R., Goldman, D. A., Heston, L. L., & Sommer, S. S. (2004) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30016 · Cited by 143 · see citing works
Preserved speech variants of the Rett syndrome: Molecular and clinical analysis
Zappella, M., Meloni, I., Longo, I., Hayek, G., & Renieri, A. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.10005 · Cited by 140 · see citing works
Preserved speech variant is allelic of classic Rett syndrome
Bona, C. D., Zappella, M., Hayek, G., Meloni, I., Vitelli, F., Bruttini, M., Cusano, R., Loffredo, P., Longo, I., & Renieri, A. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200473 · Cited by 127 · see citing works
Phenotypic manifestations of MECP2 mutations in classical and atypical rett syndrome
Schanen, C., Houwink, E. J. F., Dorrani, N., Lane, J. B., Everett, R., Feng, A., Cantor, R. M., & Percy, A. K. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20571 · Cited by 124 · see citing works
Self-citationArcher, H. L., Evans, J., Leonard, H., Colvin, L., Ravine, D., Christodoulou, J., Williamson, S. L., Charman, T., Bailey, M. E. S., Sampson, J. R., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.045260 · Cited by 109 · see citing works
Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS
Hitchins, M. P., Rickard, S. J., Dhalla, F., Vries, B. B. A. D., Winter, R. M., Pembrey, M. E., & Malcolm, S. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20343 · Cited by 106 · see citing works
Kudo, S., Nomura, Y., Segawa, M., Fujita, N., Nakao, M., Schanen, C., & Tamura, M. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.7.487 · Cited by 92 · see citing works
Influence of Mutation Type and Location on Phenotype in 123 Patients with Rett Syndrome
Huppke, P., Held, M., Hanefeld, F. A., Engel, W., & Laccone, F. A. (2002) · Neuropediatrics · doi:10.1055/s-2002-32365 · Cited by 89 · see citing works
Leonard, H., Colvin, L., Christodoulou, J., Schiavello, T., Williamson, S., Davis, M., Ravine, D., Fyfe, S., de Klerk, N. H., Matsuishi, T., et al. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.5.e52 · Cited by 87 · see citing works
Study of MECP2 gene in Rett syndrome variants and autistic girls
Zappella, M., Meloni, I., Longo, I., Canitano, R., Hayek, G., Rosaia, L., Mari, F., & Renieri, A. (2003) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.10070 · Cited by 85 · see citing works
Rett syndrome in Spain: mutation analysis and clinical correlations
Monrós, E., Morón, J. A., Aibar, E., Póo, P., Canós, I., & Pineda, M. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00374-6 · Cited by 85 · see citing works
Rett syndrome in females with CTS hot spot deletions: A disorder profile
Smeets, E., Terhal, P. A., Casaer, P., Peters, A., Midro, A. T., Schollen, E., van Roozendaal, K. E. P., Moog, U., Matthijs, G., Herbergs, J. P. J., et al. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30410 · Cited by 81 · see citing works
Features of Autism in Rett Syndrome and Severe Mental Retardation
Mount, R. H., Charman, T., Hastings, R. P., Reilly, S., & Cass, H. (2003) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1025066913283 · Cited by 79 · see citing works
Nielsen, J. B., Henriksen, K. F., Hansen, C., Silahtaroglu, A., Schwartz, M., & Tommerup, N. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200600 · Cited by 71 · see citing works
Kudo, S., Nomura, Y., Segawa, M., Fujita, N., Nakao, M., Dragich, J. M., Schanen, C., & Tamura, M. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00345-x · Cited by 60 · see citing works
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome
Amir, R. E., Fang, P., Yu, Z., Glaze, D. G., Percy, A. K., Zoghbi, H. Y., Roa, B. B., & den Veyver, I. B. V. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.026161 · Cited by 57 · see citing works
Self-citationRett syndrome in adolescent and adult females: Clinical and molecular genetic findings
Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J. P. J., Smeets, H. J. M., Curfs, L., Schrander-Stumpel, C. T. R. M., & Fryns, J. P. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20321 · Cited by 56 · see citing works
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics
Kleefstra, T., Yntema, H. G., Nillesen, W. M., Oudakker, A. R., Mullaart, R. A., Geerdink, N., van Bokhoven, H., Vries, B. B. A. D., Sistermans, E. A., & Hamel, B. C. J. (2003) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201080 · Cited by 46 · see citing works
Yamashita, Y., Kondo, I., Fukuda, T., Morishima, R., Kusaga, A., Iwanaga, R., & Matsuishi, T. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00378-3 · Cited by 34 · see citing works
Mutation Analysis of MECP2 and Clinical Characterization in Korean Patients With Rett Syndrome
Chae, J., Hwang, Y. S., & Kim, K. J. (2002) · Journal of Child Neurology · doi:10.1177/088307380201700108 · Cited by 31 · see citing works
Yamada, Y., Miura, K., Kumagai, T., Hayakawa, C., Miyazaki, S., Matsumoto, A., Kurosawa, K., Nomura, N., Taniguchi, H., Sonta, S., et al. (2001) · Human Mutation · doi:10.1002/humu.1186 · Cited by 23 · see citing works
A 10-year-old boy with Marfan syndrome exhibiting cerebrovascular abnormalities
Kondo, M., Itoh, S., Nagano, K., Namba, M., Kondo, M., Imai, T., & Onishi, S. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00203-0 · Cited by 22 · see citing works
Giunti, L., Pelagatti, S., Lazzerini, V., Guarducci, S., Lapi, E., Coviello, S., Cecconi, A., Ombroni, L., Andreucci, E., Sani, I., et al. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00342-4 · Cited by 20 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Rett syndrome: Revised diagnostic criteria and nomenclature
Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi‐Buisson, N., Leonard, H., Bailey, M. E. S., Schanen, N. C., Zappella, M., et al. (2010) · Annals of Neurology · doi:10.1002/ana.22124 · Cited by 1,398 · see citing works
Self-citationThe Story of Rett Syndrome: From Clinic to Neurobiology
Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.001 · Cited by 1,265 · see citing works
Self-citationDysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
Chao, H.-T., Chen, H., Samaco, R. C., Xue, M., Chahrour, M., Yoo, J., Neul, J. L., Gong, S., Lu, H.-C., Heintz, N., et al. (2010) · Nature · doi:10.1038/nature09582 · Cited by 1,168 · see citing works
Self-citationZoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009886 · Cited by 797 · see citing works
Self-citationRett syndrome: a complex disorder with simple roots
Lyst, M. J., & Bird, A. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3897 · Cited by 353 · see citing works
Cuddapah, V. A., Pillai, R. B., Shekar, K. V., Lane, J. B., Motil, K. J., Skinner, S. A., Tarquinio, D. C., Glaze, D. G., McGwin, G., Kaufmann, W. E., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-102113 · Cited by 311 · see citing works
Self-citationMoss, J. F., & Howlin, P. (2009) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2009.01197.x · Cited by 313 · see citing works
Cohen, S., Gabel, H. W., Hemberg, M., Hutchinson, A. N., Sadacca, L. A., Ebert, D. H., Harmin, D. A., Greenberg, R. S., Verdine, V. K., Zhou, Z., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.08.022 · Cited by 298 · see citing works
Samaco, R. C., Mandel‐Brehm, C., Chao, H.-T., Ward, C. S., Fyffe-Maricich, S. L., Ren, J. T., Hyland, Κ., Christina Thaller, B., Maricich, S. M., Humphreys, P., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0912257106 · Cited by 254 · see citing works
Self-citationMouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus
Ben-Shachar, S., Chahrour, M., Thaller, C., Shaw, C. A., & Zoghbi, H. Y. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp181 · Cited by 253 · see citing works
Self-citationRett syndrome: insights into genetic, molecular and circuit mechanisms
Ip, J. P. K., Mellios, N., & Sur, M. (2018) · Nature reviews. Neuroscience · doi:10.1038/s41583-018-0006-3 · Cited by 247 · see citing works
Epilepsy and the natural history of Rett syndrome
Glaze, D. G., Percy, A. K., Skinner, S. A., Motil, K. J., Neul, J. L., Barrish, J. O., Lane, J. B., Geerts, S. P., Annese, F., Graham, J., et al. (2010) · Neurology · doi:10.1212/wnl.0b013e3181d6b852 · Cited by 224 · see citing works
Self-citationMECP2 disorders: from the clinic to mice and back
Lombardi, L. M., Baker, S. A., & Zoghbi, H. Y. (2015) · Journal of Clinical Investigation · doi:10.1172/jci78167 · Cited by 221 · see citing works
Self-citationRett syndrome: a neurological disorder with metabolic components
Kyle, S. M., Vashi, N., & Justice, M. J. (2018) · Open Biology · doi:10.1098/rsob.170216 · Cited by 213 · see citing works
Clinical and biological progress over 50 years in Rett syndrome
Leonard, H., Cobb, S., & Downs, J. A. (2016) · Nature Reviews Neurology · doi:10.1038/nrneurol.2016.186 · Cited by 205 · see citing works
Samaco, R. C., Fryer, J. D., Ren, J. T., Fyffe-Maricich, S. L., Chao, H.-T., Sun, Y., Greer, J. J., Zoghbi, H. Y., & Neul, J. L. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn062 · Cited by 189 · see citing works
Self-citationBDNF deregulation in Rett syndrome
Li, W., & Pozzo‐Miller, L. D. (2013) · Neuropharmacology · doi:10.1016/j.neuropharm.2013.03.024 · Cited by 175 · see citing works
Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome
Glaze, D. G., Neul, J. L., Kaufmann, W. E., Berry-Kravis, E., Condon, S., Stoms, G., Oosterholt, S., Della Pasqua, O., Glass, L., Jones, N. E., et al. (2019) · Neurology · doi:10.1212/wnl.0000000000007316 · Cited by 160 · see citing works
Self-citationDevelopmental delay in Rett syndrome: data from the natural history study
Neul, J. L., Lane, J. B., Lee, H. S., Geerts, S. P., Barrish, J. O., Annese, F., Baggett, L., Barnes, K., Skinner, S. A., Motil, K. J., et al. (2014) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-6-20 · Cited by 159 · see citing works
Self-citationRett Syndrome: Crossing the Threshold to Clinical Translation
Katz, D. M., Bird, A., Coenraads, M., Gray, S. J., Menon, D. U., Philpot, B. D., & Tarquinio, D. C. (2016) · Trends in Neurosciences · doi:10.1016/j.tins.2015.12.008 · Cited by 150 · see citing works
RettBASE: Rett syndrome database update
Krishnaraj, R. R., Ho, G., & Christodoulou, J. (2017) · Human Mutation · doi:10.1002/humu.23263 · Cited by 148 · see citing works
Altered gut microbiota in Rett syndrome
Strati, F., Cavalieri, D., Albanese, D., Felice, C. D., Donati, C., Hayek, J., Jousson, O., Leoncini, S., Pindo, M., Renzi, D., et al. (2016) · Microbiome · doi:10.1186/s40168-016-0185-y · Cited by 148 · see citing works
Epilepsy in Rett syndrome, and CDKL5‐ and FOXG1‐gene–related encephalopathies
Guerrini, R., & Parrini, E. (2012) · Epilepsia · doi:10.1111/j.1528-1167.2012.03656.x · Cited by 146 · see citing works
Rett syndrome diagnostic criteria: Lessons from the Natural History Study
Percy, A. K., Neul, J. L., Glaze, D. G., Motil, K. J., Skinner, S. A., Khwaja, O., Lee, H., Lane, J. B., Barrish, J. O., Annese, F., et al. (2010) · Annals of Neurology · doi:10.1002/ana.22154 · Cited by 144 · see citing works
Self-citationRett Syndrome: Exploring the Autism Link
Percy, A. K. (2011) · Archives of Neurology · doi:10.1001/archneurol.2011.149 · Cited by 144 · see citing works
Self-citationMeCP2: The Genetic Driver of Rett Syndrome Epigenetics
Good, K., Vincent, J. B., & Ausió, J. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.620859 · Cited by 143 · see citing works
Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities
Gold, W. A., Krishnaraj, R. R., Ellaway, C., & Christodoulou, J. (2017) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.7b00346 · Cited by 132 · see citing works
Experimental models of Rett syndrome based on Mecp2 dysfunction
Calfa, G. D., Percy, A. K., & Pozzo‐Miller, L. D. (2011) · Experimental Biology and Medicine · doi:10.1258/ebm.2010.010261 · Cited by 132 · see citing works
Self-citationPrevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
Mangatt, M., Wong, K., Anderson, B. J., Epstein, A., Hodgetts, S. I., Leonard, H., & Downs, J. A. (2016) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-016-0418-y · Cited by 131 · see citing works
The DNA Methylation in Neurological Diseases
Younesian, S., Yousefi, A., Momeny, M., Ghaffari, S. H., & Bashash, D. (2022) · Cells · doi:10.3390/cells11213439 · Cited by 135 · see citing works
Hite, K. C., Adams, V. H., & Hansen, J. C. (2009) · Biochemistry and Cell Biology · doi:10.1139/o08-115 · Cited by 127 · see citing works
Social impairments in Rett syndrome: characteristics and relationship with clinical severity
Kaufmann, W. E., Tierney, E., Rohde, C. A., Suarez‐Pedraza, M. C., Clarke, M. A., Salorio, C. F., Bibat, G., Bukelis, I., Naram, D., Lanham, D. C., et al. (2011) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2011.01404.x · Cited by 124 · see citing works
Growth failure and outcome in Rett syndrome
Tarquinio, D. C., Motil, K. J., Hou, W., Lee, H. S., Glaze, D. G., Skinner, S. A., Neul, J. L., Annese, F., McNair, L., Barrish, J. O., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e31826e9a70 · Cited by 123 · see citing works
Self-citationThe relationship of Rett syndrome and MECP2 disorders to autism
Neul, J. L. (2012) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2012.14.3/jneul · Cited by 120 · see citing works
Self-citationJefferson, A., Leonard, H., Siafarikas, A., Woodhead, H., Fyfe, S., Ward, L. M., Munns, C. F., Motil, K. J., Tarquinio, D. C., Shapiro, J. R., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0146824 · Cited by 118 · see citing works
Self-citationConsensus guidelines on managing Rett syndrome across the lifespan
Fu, C., Armstrong, D. M., Marsh, E. D., Lieberman, D. N., Motil, K. J., Witt, R., Standridge, S. M., Nues, P., Lane, J. B., Dinkel, T., et al. (2020) · BMJ Paediatrics Open · doi:10.1136/bmjpo-2020-000717 · Cited by 118 · see citing works
Self-citationComplexities of Rett Syndrome and MeCP2: Figure 1.
Samaco, R. C., & Neul, J. L. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.0169-11.2011 · Cited by 112 · see citing works
Self-citationVisual evoked potentials detect cortical processing deficits in R ett syndrome
LeBlanc, J. J., DeGregorio, G., Centofante, E., Vogel‐Farley, V. K., Barnes, K., Kaufmann, W. E., Fagiolini, M., & Nelson, C. A. (2015) · Annals of Neurology · doi:10.1002/ana.24513 · Cited by 113 · see citing works
Treating Rett syndrome: from mouse models to human therapies
Vashi, N., & Justice, M. J. (2019) · Mammalian Genome · doi:10.1007/s00335-019-09793-5 · Cited by 111 · see citing works
Kosillo, P., & Bateup, H. S. (2021) · Frontiers in Neural Circuits · doi:10.3389/fncir.2021.700968 · Cited by 110 · see citing works
Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder
Banerjee, A., Miller, M. T., Li, K., Sur, M., & Kaufmann, W. E. (2018) · Brain · doi:10.1093/brain/awy323 · Cited by 109 · see citing works
The array of clinical phenotypes of males with mutations in Methyl‐CpG binding protein 2
Neul, J. L., Benke, T. A., Marsh, E. D., Skinner, S. A., Merritt, J. K., Lieberman, D. N., Standridge, S. M., Feyma, T. J., Heydemann, P. T., Peters, S. U., et al. (2018) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32707 · Cited by 106 · see citing works
Self-citationGlaze, D. G., Neul, J. L., Percy, A. K., Feyma, T. J., Beisang, A., Yaroshinsky, A., Stoms, G. B., Zuchero, D., Horrigan, J. P., Glass, L., et al. (2017) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2017.07.002 · Cited by 104 · see citing works
Self-citationBerry-Kravis, E., Horrigan, J. P., Tartaglia, N., Hagerman, R., Kolevzon, A., Erickson, C. A., Hatti, S., Snape, M., Yaroshinsky, A., Stoms, G., et al. (2020) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2020.04.019 · Cited by 102 · see citing works
Epilepsy in Rett syndrome—The experience of a National Rett Center
Nissenkorn, A., Gak, E., Vecsler, M., Reznik, H., Menascu, S., & Zeev, B. B. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02597.x · Cited by 99 · see citing works
Brown, K., Selfridge, J., Lagger, S., Connelly, J. C., Sousa, D. D., Kerr, A. R. W., Webb, S., Guy, J., Merusi, C., Koerner, M. V., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv496 · Cited by 96 · see citing works
Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease
Pejhan, S., & Rastegar, M. (2021) · Biomolecules · doi:10.3390/biom11010075 · Cited by 96 · see citing works
Zachariah, R. M., & Rastegar, M. (2012) · Neural Plasticity · doi:10.1155/2012/415825 · Cited by 97 · see citing works
Linking MECP2 and pain sensitivity: The example of Rett syndrome
Downs, J. A., Géranton, S. M., Bebbington, A., Jacoby, P. A., Bahi‐Buisson, N., Ravine, D., & Leonard, H. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33314 · Cited by 96 · see citing works
The role of oxidative stress in Rett syndrome: an overview
Felice, C. D., Signorini, C., Leoncini, S., Pecorelli, A., Durand, T., Valacchi, G., Ciccoli, L., & Hayek, J. (2012) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2012.06611.x · Cited by 94 · see citing works
MECP2, a multi-talented modulator of chromatin architecture
Ragione, F. D., Vacca, M., Fioriniello, S., Pepe, G., & D’Esposito, M. (2016) · Briefings in Functional Genomics · doi:10.1093/bfgp/elw023 · Cited by 91 · see citing works
The course of awake breathing disturbances across the lifespan in Rett syndrome
Tarquinio, D. C., Hou, W., Neul, J. L., Kilic‐Berkmen, G., Drummond, J. B., Aronoff, E. B., Harris, J. A., Lane, J. B., Kaufmann, W. E., Motil, K. J., et al. (2018) · Brain and Development · doi:10.1016/j.braindev.2018.03.010 · Cited by 92 · see citing works
Self-citationAnxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales
Barnes, K. V., Coughlin, F., O’Leary, H. M., Bruck, N. M., Bazin, G. A., Beinecke, E. B., Walco, A. C., Cantwell, N. G., & Kaufmann, W. E. (2015) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-015-9127-4 · Cited by 94 · see citing works
Activity-dependent synaptic plasticity modulates the critical phase of brain development
Chaudhury, S., Sharma, V., Kumar, V., Nag, T. C., & Wadhwa, S. (2015) · Brain and Development · doi:10.1016/j.braindev.2015.10.008 · Cited by 92 · see citing works
F2-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome
Felice, C. D., Signorini, C., Durand, T., Oger, C., Guy, A., Bultel‐Poncé, V., Galano, J., Ciccoli, L., Leoncini, S., D’Esposito, M., et al. (2011) · Journal of Lipid Research · doi:10.1194/jlr.p017798 · Cited by 91 · see citing works
Epilepsy and genetic in Rett syndrome: A review
Operto, F. F., Mazza, R., Pastorino, G. M. G., Verrotti, A., & Coppola, G. (2019) · Brain and Behavior · doi:10.1002/brb3.1250 · Cited by 90 · see citing works
Multisystem comorbidities in classic Rett syndrome: a scoping review
Fu, C., Armstrong, D. M., Marsh, E. D., Lieberman, D. N., Motil, K. J., Witt, R., Standridge, S. M., Lane, J. B., Dinkel, T., Jones, M. D., et al. (2020) · BMJ Paediatrics Open · doi:10.1136/bmjpo-2020-000731 · Cited by 90 · see citing works
Self-citationClinical severity and quality of life in children and adolescents with Rett syndrome
Lane, J. B., Lee, H.-S., Smith, L., Cheng, P., Percy, A. K., Glaze, D. G., Neul, J. L., Motil, K. J., Barrish, J. O., Skinner, S. A., et al. (2011) · Neurology · doi:10.1212/wnl.0b013e3182377dd2 · Cited by 88 · see citing works
Self-citationRett Syndrome: A Focus on Gut Microbiota
Borghi, E., Borgo, F., Severgnini, M., Savini, M. N., Casiraghi, M. C., & Vignoli, A. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18020344 · Cited by 85 · see citing works
McCauley, M. D., Wang, T., Mike, E. V., Herrera, J. A., Beavers, D. L., Huang, T.-W., Ward, C. S., Skinner, S. A., Percy, A. K., Glaze, D. G., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002982 · Cited by 87 · see citing works
Self-citationImproving Treatment Trial Outcomes for Rett Syndrome
Neul, J. L., Glaze, D. G., Percy, A. K., Feyma, T. J., Beisang, A., Dinh, T., Suter, B., Anagnostou, E. A., Snape, M., Horrigan, J. P., et al. (2015) · Journal of Child Neurology · doi:10.1177/0883073815579707 · Cited by 85 · see citing works
Self-citationGABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy
Yoo, Y., Jung, J., Lee, Y., Lee, Y., Cho, H., Na, E., Hong, J., Kim, E., Lee, J. S., Lee, J., et al. (2017) · Annals of Neurology · doi:10.1002/ana.25032 · Cited by 83 · see citing works
Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage
Collins, B. E., & Neul, J. L. (2022) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s371483 · Cited by 83 · see citing works
Self-citationThe common BDNF polymorphism may be a modifier of disease severity in Rett syndrome
Zeev, B. B., Bebbington, A., Ho, G., Leonard, H., de Klerk, N. H., Gak, E., Vecksler, M., & Christodoulou, J. (2009) · Neurology · doi:10.1212/01.wnl.0000345664.72220.6a · Cited by 81 · see citing works
Partial rescue of Rett syndrome by ω-3 polyunsaturated fatty acids (PUFAs) oil
Felice, C. D., Signorini, C., Durand, T., Ciccoli, L., Leoncini, S., D’Esposito, M., Filosa, S., Oger, C., Guy, A., Bultel‐Poncé, V., et al. (2012) · Genes & Nutrition · doi:10.1007/s12263-012-0285-7 · Cited by 79 · see citing works
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors
Killian, J. T., Lane, J. B., Lee, H., Skinner, S. A., Kaufmann, W. E., Glaze, D. G., Neul, J. L., & Percy, A. K. (2017) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2017.01.032 · Cited by 79 · see citing works
Self-citationSeverity Assessment in CDKL5 Deficiency Disorder
Demarest, S., Pestana‐Knight, E., Olson, H. E., Downs, J. A., Marsh, E. D., Kaufmann, W. E., Partridge, C., Leonard, H., Gwadry-Sridhar, F. H., Frame, K. E., et al. (2019) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2019.03.017 · Cited by 79 · see citing works
Self-citationDysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model
Petazzi, P., Sandoval, J., Szczęsna, K., Jorge-Torres, O. C., Roa, L., Sayols, S., Gómez, A., Huertas, D., & Esteller, M. (2013) · RNA Biology · doi:10.4161/rna.24286 · Cited by 79 · see citing works
Gold, W. A., Percy, A. K., Neul, J. L., Cobb, S., Pozzo‐Miller, L. D., Issar, J. K., Ben‐Zeev, B., Vignoli, A., & Kaufmann, W. E. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00568-0 · Cited by 80 · see citing works
Self-citationPecorelli, A., Leoni, G., Cervellati, F., Canali, R., Signorini, C., Leoncini, S., Cortelazzo, A., Felice, C. D., Ciccoli, L., Hayek, J., et al. (2013) · Mediators of Inflammation · doi:10.1155/2013/137629 · Cited by 77 · see citing works
Carter, P., Downs, J. A., Bebbington, A., Williams, S., Jacoby, P. A., Kaufmann, W. E., & Leonard, H. (2009) · Movement Disorders · doi:10.1002/mds.22851 · Cited by 75 · see citing works
Profiling Scoliosis in Rett Syndrome
Percy, A. K., Lee, H., Neul, J. L., Lane, J. B., Skinner, S. A., Geerts, S. P., Annese, F., Graham, J., McNair, L., Motil, K. J., et al. (2010) · Pediatric Research · doi:10.1203/pdr.0b013e3181d0187f · Cited by 75 · see citing works
Self-citationThe Natural History of Scoliosis in Females With Rett Syndrome
Downs, J. A., Torode, I. P., Wong, K., Ellaway, C., Elliott, E. J., Christodoulou, J., Jacoby, P. A., Thomson, M. R., Izatt, M. T., Askin, G. N., et al. (2015) · Spine · doi:10.1097/brs.0000000000001399 · Cited by 74 · see citing works
Validating the Rett Syndrome Gross Motor Scale
Downs, J. A., Stahlhut, M., Wong, K., Syhler, B., Bisgaard, A., Jacoby, P. A., & Leonard, H. (2016) · PLoS ONE · doi:10.1371/journal.pone.0147555 · Cited by 74 · see citing works
F4-neuroprostanes mediate neurological severity in Rett syndrome
Signorini, C., Felice, C. D., Leoncini, S., Giardini, A., D’Esposito, M., Filosa, S., Ragione, F. D., Rossi, M., Pecorelli, A., Valacchi, G., et al. (2011) · Clinica Chimica Acta · doi:10.1016/j.cca.2011.04.016 · Cited by 73 · see citing works
Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome–like phenotypes
Lamonica, J. M., Kwon, D. Y., Goffin, D., Fenik, P., Johnson, B. S., Cui, Y., Guo, H., Veasey, S. C., & Zhou, Z. (2017) · Journal of Clinical Investigation · doi:10.1172/jci90967 · Cited by 69 · see citing works
Rett syndrome: disruption of epigenetic control of postnatal neurological functions
Pohodich, A. E., & Zoghbi, H. Y. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv217 · Cited by 72 · see citing works
Self-citationTarquinio, D. C., Hou, W., Neul, J. L., Lane, J. B., Barnes, K. V., O’Leary, H. M., Bruck, N. M., Kaufmann, W. E., Motil, K. J., Glaze, D. G., et al. (2015) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2015.02.007 · Cited by 72 · see citing works
Self-citationAbdala, A. P., Lioy, D. T., Garg†, S. K., Knopp, S. J., Paton, J. F. R., & Bissonnette, J. M. (2014) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2013-0372oc · Cited by 68 · see citing works
Leoncini, S., De Felice, C., Signorini, C., Zollo, G., Cortelazzo, A., Durand, T., Galano, J.-M., Guerranti, R., Rossi, M., Ciccoli, L., et al. (2015) · Oxidative Medicine and Cellular Longevity · doi:10.1155/2015/421624 · Cited by 71 · see citing works
Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene
Pitcher, M. R., Herrera, J. A., Buffington, S. A., Kochukov, M. Y., Merritt, J. K., Fisher, A., Schanen, N. C., Costa‐Mattioli, M., & Neul, J. L. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv030 · Cited by 70 · see citing works
Self-citationThe importance of long non-coding RNAs in neuropsychiatric disorders
Hosseini, E., Bagheri‐Hosseinabadi, Z., Toma, I. D., Jafarisani, M., & Sadeghi, I. (2019) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2019.07.004 · Cited by 70 · see citing works
Exploring the possible link between MeCP2 and oxidative stress in Rett syndrome
Filosa, S., Pecorelli, A., D’Esposito, M., Valacchi, G., & Hayek, J. (2015) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2015.04.019 · Cited by 69 · see citing works
Genetics and Epigenetics in Adult NeurogenesisPreprint
Hsieh, J., & Zhao, X. (2016) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a018911 · Cited by 71 · see citing works
Stuss, D. P., Boyd, J. D., Levin, D. B., & Delaney, K. R. (2012) · PLoS ONE · doi:10.1371/journal.pone.0031896 · Cited by 70 · see citing works
Oxidative stress in Rett syndrome: natural history, genotype, and variants
Leoncini, S., De Felice, C., Signorini, C., Pecorelli, A., Durand, T., Valacchi, G., Ciccoli, L., & Hayek, J. (2011) · Redox Report · doi:10.1179/1351000211y.0000000004 · Cited by 69 · see citing works
Updating the profile of C-terminal MECP2 deletions in Rett syndrome
Bebbington, A., Percy, A. K., Christodoulou, J., Ravine, D., Ho, G., Jacoby, P. A., Anderson, A., Pineda, M., Zeev, B. B., Bahi‐Buisson, N., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.072553 · Cited by 69 · see citing works
Self-citationIdentification of autism-related MECP2 mutations by whole-exome sequencing and functional validation
Zhu, W. Q., Cheng, T., Li, G., Sun, S.-B., Yu, S., Zhang, Y., Du, Y., & Qiu, Z. (2017) · Molecular Autism · doi:10.1186/s13229-017-0157-5 · Cited by 68 · see citing works
Subclinical Inflammatory Status in Rett Syndrome
Cortelazzo, A., Felice, C. D., Guerranti, R., Signorini, C., Leoncini, S., Pecorelli, A., Zollo, G., Landi, C., Valacchi, G., Ciccoli, L., et al. (2014) · Mediators of Inflammation · doi:10.1155/2014/480980 · Cited by 66 · see citing works
Tordjman, S., Cohen, D., Anderson, G. M., Botbol, M., Canitano, R., Coulon, N., & Roubertoux, P. L. (2018) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2018.01.014 · Cited by 66 · see citing works
Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome
Neul, J. L., Percy, A. K., Benke, T. A., Berry‐Kravis, E., Glaze, D. G., Peters, S. U., Jones, N. E., & Youakim, J. M. (2022) · Contemporary Clinical Trials · doi:10.1016/j.cct.2022.106704 · Cited by 66 · see citing works
Self-citationNeul, J. L., Benke, T. A., Marsh, E. D., Suter, B., Silveira, L. J., Fu, C., Peters, S. U., Percy, A. K., for the Rett syndrome Natural History Study Group, Skinner, S. A., et al. (2023) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-023-09502-z · Cited by 65 · see citing works
Self-citationGenetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges
Vidal, S., Xiol, C., Pascual‐Alonso, A., O’Callaghan, M., Pineda, M., & Armstrong, J. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20163925 · Cited by 65 · see citing works
Palmieri, M., Pozzer, D., & Landsberger, N. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1172805 · Cited by 65 · see citing works
Jiang, S., Li, C., McRae, G., Lykken, E. A., Sevilla, J., Liu, S.-Q., Wan, Y., & Li, Q.-J. (2014) · Science Signaling · doi:10.1126/scisignal.2004824 · Cited by 61 · see citing works
Loss of Mecp2 in Substantia Nigra Dopamine Neurons Compromises the Nigrostriatal Pathway
Gantz, S. C., Ford, C. P., Neve, K. A., & Williams, J. T. (2011) · The Journal of Neuroscience · doi:10.1523/jneurosci.0684-11.2011 · Cited by 62 · see citing works
Johnston, M. V., Ammanuel, S. G., O’Driscoll, C. M., Wozniak, A. W., Naidu, S., & Kadam, S. D. (2014) · Frontiers in Systems Neuroscience · doi:10.3389/fnsys.2014.00118 · Cited by 61 · see citing works
A brain-derived MeCP2 complex supports a role for MeCP2 in RNA processing
Long, S. W., Ooi, J. Y. Y., Yau, P. M., & Jones, P. L. (2010) · Bioscience Reports · doi:10.1042/bsr20100124 · Cited by 60 · see citing works
Homberg, J. R., Kyzar, E. J., Scattoni, M. L., Norton, W., Pittman, J. T., Gaikwad, S., Nguyen, M., Poudel, M. K., Ullmann, J. F. P., Diamond, D. M., et al. (2016) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2016.04.015 · Cited by 62 · see citing works
Gross Motor Profile in Rett Syndrome as Determined by Video Analysis
Downs, J. A., Bebbington, A., Jacoby, P. A., Msall, M. E., McIlroy, O., Fyfe, S., Bahi‐Buisson, N., Kaufmann, W. E., & Leonard, H. (2008) · Neuropediatrics · doi:10.1055/s-0028-1104575 · Cited by 60 · see citing works
- Authors
- Neul, J. L., Fang, P., Barrish, J., Lane, J., Caeg, E. B., Smith, E. O., Zoghbi, H., Percy, A., & Glaze, D. G.
- Affiliations
- University of Alabama (US)
- Venue
- Neurology
- Published
- 2008-04-15
- Volume
- 70
- Issue
- 16
- Pages
- 1313-1321
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC2677974
- OpenAlex
- W2066619092
- Cited by
- 498
- References
- 38
- Citations by year
- 2026: 19 · 2025: 29 · 2024: 45 · 2023: 33 · 2022: 23 · 2021: 35 · 2020: 29 · 2019: 24 · 2018: 24 · 2017: 27 · 2016: 30 · 2015: 29 · 2014: 23 · 2013: 33 · 2012: 20
- FWCI
- 14.09
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- University of Alabama at Birmingham
- National Institute of Neurological Disorders and Stroke (K08NS052240, NS057819, T32NS043124, NS43124, NS052240, R01NS057819)
- National Center for Research Resources (U54RR019478, RR-019478, RR 00188, K01RR000188, M01RR000188)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-38985, P30HD038985, HD40301, P01HD040301)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- Rett syndrome, MECP2 mutations, clinical severity, DNA deletion, ambulation, hand use, language development
- MeSH terms
- Cross-Sectional Studies, Female, Humans, Mutation, Severity of Illness Index, Rett Syndrome, Methyl-CpG-Binding Protein 2
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
