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1987 5
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2,153 results

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Angelman Syndrome.
Margolis SS, Sell GL, Zbinden MA, Bird LM. Margolis SS, et al. Neurotherapeutics. 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. Neurotherapeutics. 2015. PMID: 26040994 Free PMC article. Review.
In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. ...
In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnin …
Angelman syndrome: a journey through the brain.
Maranga C, Fernandes TG, Bekman E, da Rocha ST. Maranga C, et al. FEBS J. 2020 Jun;287(11):2154-2175. doi: 10.1111/febs.15258. Epub 2020 Mar 14. FEBS J. 2020. PMID: 32087041 Free article. Review.
Angelman syndrome (AS) is an incurable neurodevelopmental disease caused by loss of function of the maternally inherited UBE3A gene. ...
Angelman syndrome (AS) is an incurable neurodevelopmental disease caused by loss of function of the maternally inherited UBE3A …
Angelman Syndrome: Identification and Management.
Bonello D, Camilleri F, Calleja-Agius J. Bonello D, et al. Neonatal Netw. 2017 May 1;36(3):142-151. doi: 10.1891/0730-0832.36.3.142. Neonatal Netw. 2017. PMID: 28494826 Review.
Angelman syndrome (AS) is a neurobehavioral and genetically determined condition, which affects approximately 1 in 15,000 individuals. ...
Angelman syndrome (AS) is a neurobehavioral and genetically determined condition, which affects approximately 1 in 15,000 indi …
Genotype-Phenotype Correlations in Angelman Syndrome.
Yang L, Shu X, Mao S, Wang Y, Du X, Zou C. Yang L, et al. Genes (Basel). 2021 Jun 28;12(7):987. doi: 10.3390/genes12070987. Genes (Basel). 2021. PMID: 34203304 Free PMC article. Review.
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin-protein ligase E3A (UBE3A) on the chromosome 15q11-13 region. ...
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubi …
Epilepsy in Angelman syndrome: A scoping review.
Samanta D. Samanta D. Brain Dev. 2021 Jan;43(1):32-44. doi: 10.1016/j.braindev.2020.08.014. Epub 2020 Sep 4. Brain Dev. 2021. PMID: 32893075 Free PMC article. Review.
Angelman Syndrome (AS) is characterized by severe developmental delays including marked speech impairment, movement abnormalities(ataxia, tremor), and unique behaviors such as frequent laughter and is caused by dysfunctional maternal UBE3A gene (maternal 15q11-13 de …
Angelman Syndrome (AS) is characterized by severe developmental delays including marked speech impairment, movement abnormalit …
Angelman syndrome - insights into a rare neurogenetic disorder.
Buiting K, Williams C, Horsthemke B. Buiting K, et al. Nat Rev Neurol. 2016 Oct;12(10):584-93. doi: 10.1038/nrneurol.2016.133. Epub 2016 Sep 12. Nat Rev Neurol. 2016. PMID: 27615419 Review.
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hyperactivi …
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, speech i …
Communication in Angelman syndrome: a scoping review.
Pearson E, Wilde L, Heald M, Royston R, Oliver C. Pearson E, et al. Dev Med Child Neurol. 2019 Nov;61(11):1266-1274. doi: 10.1111/dmcn.14257. Epub 2019 May 10. Dev Med Child Neurol. 2019. PMID: 31074506 Free article. Review.
AIM: A scoping review was conducted to examine and evaluate empirical data on the communication profile of Angelman syndrome beyond the described dissociation between receptive language and speech. ...The use of communicative forms differs between the genetic aetiol …
AIM: A scoping review was conducted to examine and evaluate empirical data on the communication profile of Angelman syndrome b …
Angelman syndrome.
Kyllerman M. Kyllerman M. Handb Clin Neurol. 2013;111:287-90. doi: 10.1016/B978-0-444-52891-9.00032-4. Handb Clin Neurol. 2013. PMID: 23622177 Review.
Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance. ...
Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy deme …
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. Duis J, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1843. doi: 10.1002/mgg3.1843. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150089 Free PMC article. Review.
BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalograp …
BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and character …
UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome.
Elgersma Y, Sonzogni M. Elgersma Y, et al. Dev Med Child Neurol. 2021 Jul;63(7):802-807. doi: 10.1111/dmcn.14831. Epub 2021 Feb 4. Dev Med Child Neurol. 2021. PMID: 33543479 Free PMC article. Review.
Half a century ago, Harry Angelman reported three patients with overlapping clinical features, now well known as Angelman syndrome. Angelman syndrome is caused by mutations affecting the maternally inherited UBE3A gene, which encodes an E3-ubiqu …
Half a century ago, Harry Angelman reported three patients with overlapping clinical features, now well known as Angelman s …
2,153 results

Searches related to "angelman syndrome"