scholarly article | Q13442814 |
P50 | author | John Christodoulou | Q42753915 |
Helen Leonard | Q77336525 | ||
Daniela T Pilz | Q130284879 | ||
P2093 | author name string | Sharon D Whatley | |
Julian R Sampson | |||
Angus J Clarke | |||
Christopher Verity | |||
David Ravine | |||
Peter W Thompson | |||
Alison M Kerr | |||
David S Millar | |||
Julie C Evans | |||
Hayley L Archer | |||
Lazarus Lazarou | |||
Lucy Grove | |||
P2860 | cites work | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 | Q22337290 |
The netrin-G1 ligand NGL-1 promotes the outgrowth of thalamocortical axons | Q24299100 | ||
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome | Q24303656 | ||
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation | Q24532056 | ||
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 | ||
Complementary expression and neurite outgrowth activity of netrin-G subfamily members | Q28216202 | ||
A family-based association study and gene expression analyses of netrin-G1 and -G2 genes in schizophrenia | Q28306895 | ||
Mice with reduced NMDA receptor expression display behaviors related to schizophrenia | Q28510751 | ||
ESEfinder: A web resource to identify exonic splicing enhancers | Q29616126 | ||
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 | ||
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases | Q34056069 | ||
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. | Q34415995 | ||
Human netrin-G1 isoforms show evidence of differential expression | Q34419713 | ||
Neurobiology of Rett syndrome: a genetic disorder of synapse development | Q34460613 | ||
Involvement of basal ganglia transmitter systems in movement initiation | Q34475577 | ||
Rett syndrome: the complex nature of a monogenic disease | Q35128931 | ||
Describing the phenotype in Rett syndrome using a population database | Q35273721 | ||
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms | Q35447640 | ||
Neurobiology of Rett syndrome | Q35597800 | ||
The clinical recognition and differential diagnosis of Rett syndrome | Q39545713 | ||
The clinical pattern of the Rett syndrome | Q41934117 | ||
Neurobiology of Rett syndrome | Q42478796 | ||
Laminets: laminin- and netrin-related genes expressed in distinct neuronal subsets | Q43924921 | ||
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls | Q45059315 | ||
Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome | Q48210067 | ||
Effects of neonatal cholinergic basal forebrain lesions on excitatory amino acid receptors in neocortex | Q48239556 | ||
Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome | Q48573215 | ||
Elevated CSF glutamate in Rett syndrome | Q50305495 | ||
Atypical forms of Rett syndrome | Q50342861 | ||
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. | Q51028484 | ||
Early onset seizures and Rett-like features associated with mutations in CDKL5. | Q51928093 | ||
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome | Q57421506 | ||
N-Methyl-D-aspartate receptor expression in the nucleus tractus solitarii and maturation of hypoxic ventilatory response in the rat | Q74316668 | ||
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 | Q78369107 | ||
Large genomic rearrangements in MECP2 | Q81403849 | ||
P433 | issue | 7 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Rett syndrome | Q917357 |
P304 | page(s) | 691-694 | |
P577 | publication date | 2006-04-01 | |
P1433 | published in | American Journal of Medical Genetics | Q4744254 |
P1476 | title | NTNG1 mutations are a rare cause of Rett syndrome | |
P478 | volume | 140 |
Q34197111 | Axon guidance and synaptic maintenance: preclinical markers for neurodegenerative disease and therapeutics |
Q50304287 | Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders |
Q38110760 | Genetic diseases: congenital central hypoventilation, Rett, and Prader-Willi syndromes |
Q34516000 | Identification of new therapeutic targets by genome-wide analysis of gene expression in the ipsilateral cortex of aged rats after stroke |
Q41934849 | Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation. |
Q55253870 | Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. |
Q39027831 | Netrin G1: its downregulation in the nucleus accumbens of cocaine-conditioned mice and genetic association in human cocaine dependence |
Q91137635 | Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia |
Q48266844 | Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin |
Q59047735 | Rett Syndrome: Coming to Terms with Treatment |
Q27337778 | Rett Syndrome: Reaching for Clinical Trials |
Q38330698 | Rett syndrome molecular diagnosis and implications in genetic counseling |
Q57267880 | Synaptic Disorders |
Q30461361 | The clasp between NetrinG and NGL becomes crystal clear |
Q21183890 | The netrin protein family |
Q38921134 | Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan |
Q55091457 | When Rett syndrome is due to genes other than MECP2. |
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