The DOI matches its Crossref record; 15 of the 16 references it cites were found in a registry or an index.
Rett syndrome diagnostic criteria: Lessons from the Natural History Study
Open accessAbstract
Analysis of 819 participants enrolled in the Rett syndrome (RTT) Natural History Study validates recently revised diagnostic criteria. 765 females fulfilled 2002 consensus criteria for classic (653/85.4%) or variant (112/14.6%) RTT. All participants classified as classic RTT fulfilled each revised main criterion; supportive criteria were not uniformly present. All variant RTT participants met at least 3 of 6 main criteria in the 2002, 2 of 4 main criteria in the current format, and 5 of 11 supportive criteria in both. This analysis underscores the critical role of main criteria for classic RTT; variant RTT requires both main and supportive criteria. Ann Neurol 2010
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“led to a redefinition of the critical periods of deterioration of patients and the emergence of ritualized and stereotypic behaviors 99”
From Progress toward treatments for synaptic defects in autism (2013) · cites this paper as [99]
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“The Rett Rare Disease Clinical Research Center natural history study has enrolled more than 800 patients”
From Progress toward treatments for synaptic defects in autism (2013) · cites this paper as [99]
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Cites
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
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Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
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Self-citationDiagnostic criteria for rett syndrome
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Self-citationMnatzakanian, G. N., Lohi, H., Munteanu, I., Alfred, S. E., Yamada, T., MacLeod, P. J. M., Jones, J. R., Scherer, S. W., Schanen, N. C., Friez, M. J., et al. (2004) · Nature Genetics · doi:10.1038/ng1327 · Cited by 357
Rett syndrome: Criteria for inclusion and exclusion
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Investigating genotype–phenotype relationships in Rett syndrome using an international data set
Bebbington, A., Anderson, A., Ravine, D., Fyfe, S., Pineda, M., de Klerk, N. H., Ben‐Zeev, B., Yatawara, N., Percy, A. K., Kaufmann, W. E., et al. (2008) · Neurology · doi:10.1212/01.wnl.0000304752.50773.ec · Cited by 240
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Rett variants: A suggested model for inclusion criteria
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Self-citationLarge deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome
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1 of the 16 references couldn’t be matched to a known paper.
Research works printed but not linked: 2
- Rett A, 1966, Uber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter, Wien Medizin Wochschr, 116, 723
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Rett syndrome: a complex disorder with simple roots
Lyst, M. J., & Bird, A. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3897 · Cited by 353
Progress toward treatments for synaptic defects in autism
Delorme, R., Ey, E., Toro, R., Leboyer, M., Gillberg, C., & Bourgeron, T. (2013) · Nature Medicine · doi:10.1038/nm.3193 · Cited by 218
Khwaja, O., Ho, E., Barnes, K. V., O’Leary, H. M., Pereira, L. M., Finkelstein, Y., Nelson, C. A., Vogel‐Farley, V. K., DeGregorio, G., Holm, I. A., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1311141111 · Cited by 212
Self-citationTrofinetide for the treatment of Rett syndrome: a randomized phase 3 study
Neul, J. L., Percy, A. K., Benke, T. A., Berry‐Kravis, E., Glaze, D. G., Marsh, E. D., Lin, T., Stankovic, S., Bishop, K. M., & Youakim, J. M. (2023) · Nature Medicine · doi:10.1038/s41591-023-02398-1 · Cited by 211
Self-citationThe Molecular Basis of MeCP2 Function in the Brain
Tillotson, R., & Bird, A. P. (2019) · Journal of Molecular Biology · doi:10.1016/j.jmb.2019.10.004 · Cited by 181
Metadata
- Authors
- 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., McNair, L., Graham, J., & Barnes, K.
- Affiliations
- Civitan International (US)
- Baylor College of Medicine (US)
- University of Alabama at Birmingham (US)
- Harvard University (US)
- University of South Florida (US)
- Corresponding author
- Percy, Alan K.
- ORCID
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2010-11-22
- Volume
- 68
- Issue
- 6
- Pages
- 951-955
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- PMC
- PMC3021984
- OpenAlex
- W2105926864
- Cited by
- 144
- References
- 16
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 15 · 2023: 10 · 2022: 10 · 2021: 11 · 2020: 13 · 2019: 18 · 2018: 4 · 2017: 10 · 2016: 10 · 2015: 9 · 2014: 4 · 2013: 10 · 2012: 6
- FWCI
- 3.77
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- U.S. Department of Agriculture
- National Institutes of Health
- National Center for Research Resources (U54RR019478, M01RR000032)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-38985, P30HD038985, U54HD061222)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Rett syndrome, diagnostic criteria, natural history (disease)
- MeSH terms
- Female, Humans, Male, Mutation, Rett Syndrome, Natural History, History, 20th Century, Methyl-CpG-Binding Protein 2
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