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Rett syndrome: Revised diagnostic criteria and nomenclature
Annals of Neurology · 2010 · Vol. 68(6) · pp. 944–950
Jeffrey L. Neul✉(Baylor College of Medicine)Walter E. Kaufmann(Johns Hopkins University)Daniel G. Glaze(Baylor College of Medicine)John Christodoulou(Children's Hospital at Westmead)Angus Clarke(Cardiff University)Nadia Bahi‐Buisson(Université Paris Cité)Helen Leonard(University of Western Australia)Mark E.S. Bailey(University of Glasgow)N. Carolyn Schanen(Alfred I. duPont Hospital for Children)Michele Zappella(Ospedale Versilia)Alessandra Renieri(University of Siena)Peter Huppke(University of Göttingen)Alan K. Percy(University of Alabama at Birmingham)
Abstract
These revised criteria provide clarity regarding the key features required for the diagnosis of RTT and reinforce the concept that RTT is a clinical diagnosis based on distinct clinical criteria, independent of molecular findings. We recommend that these criteria and guidelines be utilized in any proposed clinical research.
Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchFamily and Disability Support ResearchRett syndromeAnticipation (artificial intelligence)CLARITYConfusionClinical trialPsychologyMedicinePediatricsPathologyComputer science
MeSH terms
AnimalsHumansMutationTerminology as TopicRett SyndromeMethyl-CpG-Binding Protein 2
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References
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Nature Genetics · 1999 · 4,983 citations
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
Annals of Neurology · 1983 · 1,513 citations
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