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Angelman Syndrome.
scientific article published on July 2015
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Europe PubMed Central
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4489961
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26040994%20AND%20SRC:MED&resulttype=core&format=json
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16 February 2020
review article
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title
Angelman Syndrome
(English)
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Europe PubMed Central
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4489961
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16 February 2020
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Lynne M Bird
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4
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4489961
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16 February 2020
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Seth S Margolis
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1
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4489961
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16 February 2020
Gabrielle L Sell
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2
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16 February 2020
Mark A Zbinden
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3
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16 February 2020
publication date
1 July 2015
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4489961
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16 February 2020
published in
Neurotherapeutics
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4489961
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16 February 2020
volume
12
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4489961
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16 February 2020
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3
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16 February 2020
page(s)
641-650
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16 February 2020
exact match
https://scigraph.springernature.com/pub.10.1007/s13311-015-0361-y
0 references
cites work
An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
Cerebellar plasticity and motor learning deficits in a copy-number variation mouse model of autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
Autism: cause factors, early diagnosis and therapies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
The familial risk of autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
Topoisomerases facilitate transcription of long genes linked to autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
Genetic reduction of the α1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
Proteomic profiling in Drosophila reveals potential Dube3a regulation of the actin cytoskeleton and neuronal homeostasis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
Neurologic manifestations of Angelman syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
Angelman syndrome caused by deletion: a genotype-phenotype correlation determined by breakpoint.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
Behavioral deficits in an Angelman syndrome model: effects of genetic background and age.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
RNAs of the human chromosome 15q11-q13 imprinted region
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Maternal loss of Ube3a produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
Molecular and Clinical Aspects of Angelman Syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
Reversal of impaired hippocampal long-term potentiation and contextual fear memory deficits in Angelman syndrome model mice by ErbB inhibitors
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
27 July 2018
Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome
1 reference
stated in
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reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism
1 reference
stated in
PubMed Central
reference URL
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retrieved
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Ube3a is required for experience-dependent maturation of the neocortex.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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1 reference
stated in
PubMed Central
reference URL
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retrieved
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Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors
1 reference
stated in
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reference URL
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retrieved
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stated in
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retrieved
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Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification
1 reference
stated in
PubMed Central
reference URL
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retrieved
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1 reference
stated in
PubMed Central
reference URL
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retrieved
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Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein.
1 reference
stated in
PubMed Central
reference URL
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retrieved
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1 reference
stated in
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reference URL
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retrieved
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1 reference
stated in
PubMed Central
reference URL
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retrieved
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1 reference
stated in
PubMed Central
reference URL
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retrieved
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1 reference
stated in
PubMed Central
reference URL
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retrieved
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1 reference
stated in
PubMed Central
reference URL
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retrieved
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1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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1 reference
stated in
PubMed Central
reference URL
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retrieved
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1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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1 reference
stated in
PubMed Central
reference URL
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retrieved
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1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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1 reference
stated in
PubMed Central
reference URL
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retrieved
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Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Defective glucocorticoid hormone receptor signaling leads to increased stress and anxiety in a mouse model of Angelman syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Clinical and genetic aspects of Angelman syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Angelman syndrome 2005: updated consensus for diagnostic criteria.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
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1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
24 September 2018
Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
24 September 2018
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
24 September 2018
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
24 September 2018
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4489961
retrieved
24 September 2018
Ubiquitin ligase E6-AP and its role in human disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS13311-015-0361-Y
retrieved
21 January 2018
Angelman syndrome: Mutations influence features in early childhood
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26040994
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Levodopa responsive Parkinsonism in adults with Angelman Syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26040994
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
If not Angelman, what is it? A review of Angelman-like syndromes
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26040994
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1007/S13311-015-0361-Y
1 reference
stated in
Europe PubMed Central
PMC publication ID
4489961
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26040994%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
PMC publication ID
4489961
1 reference
stated in
Europe PubMed Central
PMC publication ID
4489961
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26040994%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
PubMed publication ID
26040994
1 reference
stated in
Europe PubMed Central
PMC publication ID
4489961
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26040994%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
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