About: An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

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About: An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 Goto Sponge NotDistinct Permalink

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scientific article published on 01 January 2002

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в січні 2002 (uk) im Jahr 2002 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xineru de 2002 (ast) artikull shkencor i botuar më 01 janar 2002 (sq) scientific article published on 01 January 2002 (en)
publication date	wds:Q78369107-8F633F24-20FB-4D6C-8136-14B38D0421FB
publication date	2002-01-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q78369107-1EEB5EDD-50FC-43EE-A4C7-D5C155727241 wds:Q78369107-A02523BC-945B-4E77-B6F8-D69CA789A933 wds:Q78369107-FBE33F49-C540-40E8-A530-4458C211A60F
author name string	Bengt Hagberg Folker Hanefeld Ola Skjeldal
rdfs:label	An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 (en) An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 (nl) An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 (sq)
skos:prefLabel	An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 (en) An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 (nl) An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 (sq)
name	An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 (en) An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 (nl) An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 (sq)
author	wds:Q78369107-3FFD901E-2D4A-4BC5-BF40-25A81AC717BB
author	Alan K. Percy
title	wds:Q78369107-0B8790C9-CB5D-4610-9A31-AC030813D8B4
title	An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 (en)
page(s)	wds:Q78369107-02E7B7E9-560A-491B-AE55-35427C72BF8A
page(s)	293-297
instance of	wds:Q78369107-5E42193F-B62D-4ECC-A36C-EC92C3FD8672
instance of	scholarly article
main subject	wds:Q78369107-9530CA1E-FF42-4FA9-B9DC-7503393BA63D wds:Q78369107-A562BF78-3F6C-4A49-87FC-6A6380641E79
main subject	Rett syndrome Germany
PubMed ID	wds:Q78369107-DE48375F-0808-4EDC-B7E9-844AD87DABFD
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/12378695
PubMed ID	12378695
published in	wds:Q78369107-56D18E58-284D-4254-86B8-2366ECA3FFEF
published in	European Journal of Paediatric Neurology
issue	wds:Q78369107-10B2A1AB-7AAD-434D-87CD-E2B4D88271C7
volume	wds:Q78369107-51120E39-A79F-4747-B0F5-78A1235C6D41
issue	5
volume	6
DOI	wds:Q78369107-BD68F3EE-2F44-486B-A9F8-20E43328739A
DOI	http://dx.doi.org/10.1053/EJPN.2002.0612
DOI	10.1053/EJPN.2002.0612
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q78369107
is cites work of	FOXG1 is responsible for the congenital variant of Rett syndrome Rett syndrome: clinical review and genetic update Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature Developmental delay in Rett syndrome: data from the natural history study Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database. A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome. Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. Why do seizures occur when they do? Situations perceived to be associated with increased or decreased seizure likelihood in people with epilepsy and intellectual disability Clinical severity and quality of life in children and adolescents with Rett syndrome Correlations between neurophysiological, behavioral, and cognitive function in Rett syndrome. X-linked mental retardation and epigenetics Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment Trends in the diagnosis of Rett syndrome in Australia. Development of a video-based evaluation tool in Rett syndrome. Profiling scoliosis in Rett syndrome The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders. Growth failure and outcome in Rett syndrome: specific growth references Brief report: systematic review of Rett syndrome in males Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. Rett syndrome: revised diagnostic criteria and nomenclature Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Rett Syndrome. Epilepsy and the natural history of Rett syndrome. Rett syndrome diagnostic criteria: lessons from the Natural History Study Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Pharmacological stimulation of the brain serotonin receptor 7 as a novel therapeutic approach for Rett syndrome Epilepsy in Rett syndrome: clinical and genetic features. Sleep problems in Rett syndrome A review of Rett syndrome (RTT) with induced pluripotent stem cells MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. Early onset seizures and Rett-like features associated with mutations in CDKL5. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2-/y knockout mice. Inflammatory lung disease in Rett syndrome Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice Level of purposeful hand function as a marker of clinical severity in Rett syndrome Seizures in Rett syndrome: an overview from a one-year calendar study Feeding and swallowing dysfunction in genetic syndromes MECP2 mutations in males. Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations Bone mineral content and density in Rett syndrome and their contributing factors Vitamin D deficiency is prevalent in girls and women with Rett syndrome Low bone turnover phenotype in Rett syndrome: results of biochemical bone marker analysis Clinical characteristics of children with rett syndrome Rett Syndrome: Reaching for Clinical Trials Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.

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