NTNG1 mutations are a rare cause of Rett syndrome

scientific article

NTNG1 mutations are a rare cause of Rett syndrome is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/AJMG.A.31133
P932PMC publication ID2577736
P698PubMed publication ID16502428
P5875ResearchGate publication ID7276004

P50authorJohn ChristodoulouQ42753915
Helen LeonardQ77336525
Daniela T PilzQ130284879
P2093author name stringSharon 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
P2860cites workRett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2Q22337290
The netrin-G1 ligand NGL-1 promotes the outgrowth of thalamocortical axonsQ24299100
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeQ24303656
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationQ24532056
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationQ24534159
Complementary expression and neurite outgrowth activity of netrin-G subfamily membersQ28216202
A family-based association study and gene expression analyses of netrin-G1 and -G2 genes in schizophreniaQ28306895
Mice with reduced NMDA receptor expression display behaviors related to schizophreniaQ28510751
ESEfinder: A web resource to identify exonic splicing enhancersQ29616126
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 casesQ34056069
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.Q34415995
Human netrin-G1 isoforms show evidence of differential expressionQ34419713
Neurobiology of Rett syndrome: a genetic disorder of synapse developmentQ34460613
Involvement of basal ganglia transmitter systems in movement initiationQ34475577
Rett syndrome: the complex nature of a monogenic diseaseQ35128931
Describing the phenotype in Rett syndrome using a population databaseQ35273721
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasmsQ35447640
Neurobiology of Rett syndromeQ35597800
The clinical recognition and differential diagnosis of Rett syndromeQ39545713
The clinical pattern of the Rett syndromeQ41934117
Neurobiology of Rett syndromeQ42478796
Laminets: laminin- and netrin-related genes expressed in distinct neuronal subsetsQ43924921
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controlsQ45059315
Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndromeQ48210067
Effects of neonatal cholinergic basal forebrain lesions on excitatory amino acid receptors in neocortexQ48239556
Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndromeQ48573215
Elevated CSF glutamate in Rett syndromeQ50305495
Atypical forms of Rett syndromeQ50342861
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 syndromeQ57421506
N-Methyl-D-aspartate receptor expression in the nucleus tractus solitarii and maturation of hypoxic ventilatory response in the ratQ74316668
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 2001Q78369107
Large genomic rearrangements in MECP2Q81403849
P433issue7
P407language of work or nameEnglishQ1860
P921main subjectRett syndromeQ917357
P304page(s)691-694
P577publication date2006-04-01
P1433published inAmerican Journal of Medical GeneticsQ4744254
P1476titleNTNG1 mutations are a rare cause of Rett syndrome
P478volume140

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cites work (P2860)
Q34197111Axon guidance and synaptic maintenance: preclinical markers for neurodegenerative disease and therapeutics
Q50304287Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders
Q38110760Genetic diseases: congenital central hypoventilation, Rett, and Prader-Willi syndromes
Q34516000Identification of new therapeutic targets by genome-wide analysis of gene expression in the ipsilateral cortex of aged rats after stroke
Q41934849Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.
Q55253870Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
Q39027831Netrin G1: its downregulation in the nucleus accumbens of cocaine-conditioned mice and genetic association in human cocaine dependence
Q91137635Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia
Q48266844Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin
Q59047735Rett Syndrome: Coming to Terms with Treatment
Q27337778Rett Syndrome: Reaching for Clinical Trials
Q38330698Rett syndrome molecular diagnosis and implications in genetic counseling
Q57267880Synaptic Disorders
Q30461361The clasp between NetrinG and NGL becomes crystal clear
Q21183890The netrin protein family
Q38921134Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan
Q55091457When Rett syndrome is due to genes other than MECP2.

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