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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
2000 2
2001 1
2003 2
2010 1
2013 1
2019 1
2020 1
2022 1
2024 0

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11 results

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Page 1
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. ...Moreover, we also discuss the major drawbacks of current models and point out future directions for research in the context
Angelman syndrome (AS) is an incurable neurodevelopmental disease caused by loss of function of the maternally inherited UBE3A
Angelman syndrome: a review of the clinical and genetic aspects.
Clayton-Smith J, Laan L. Clayton-Smith J, et al. J Med Genet. 2003 Feb;40(2):87-95. doi: 10.1136/jmg.40.2.87. J Med Genet. 2003. PMID: 12566516 Free PMC article. Review.
Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a happy, sociable disposition. ...These include maternal deletion, pat
Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disor
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research.
Zampeta FI, Distel B, Elgersma Y, Iping R. Zampeta FI, et al. Hum Genet. 2022 Dec;141(12):1837-1848. doi: 10.1007/s00439-022-02460-x. Epub 2022 May 30. Hum Genet. 2022. PMID: 35637341 Free PMC article. Review.
In this study, we employed a bibliometric approach to review and visualize the development of Angelman syndrome research over the last 50 years. We look into different parameters shaping the progress of the Angelman syndrome research field, including s …
In this study, we employed a bibliometric approach to review and visualize the development of Angelman syndrome research over …
Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy.
Gataullina S, Bienvenu T, Nabbout R, Huberfeld G, Dulac O. Gataullina S, et al. Dev Med Child Neurol. 2019 Aug;61(8):891-898. doi: 10.1111/dmcn.14152. Epub 2019 Jan 25. Dev Med Child Neurol. 2019. PMID: 30680721 Free article. Review.
Phasic GABA-pathies comprise mostly generalized epilepsy with febrile seizures plus and Dravet syndrome, thus long-lasting seizures with mild interictal spiking. Tonic GABA-pathies cause epilepsy with myoclonic-atonic seizures and Angelman syndrome, thus majo …
Phasic GABA-pathies comprise mostly generalized epilepsy with febrile seizures plus and Dravet syndrome, thus long-lasting seizures w …
[Ion channels and epilepsy].
Armijo JA, de las Cuevas I, Adín J. Armijo JA, et al. Rev Neurol. 2000 Jun;30 Suppl 1:S25-41. Rev Neurol. 2000. PMID: 10904966 Review. Spanish.
The voltage-gated potassium channel has been implicated in the hyperpolarization-phase of PDS, it is the genetic substrate of the long QT syndrome, benign neonatal epilepsy, and episodic ataxia/myokymia syndrome, and it is the target of some antiepileptic drugs whic …
The voltage-gated potassium channel has been implicated in the hyperpolarization-phase of PDS, it is the genetic substrate of the long QT …
Molecular basis and diagnosis of neurogenetic disorders.
Müller U, Graeber MB, Haberhausen G, Köhler A. Müller U, et al. J Neurol Sci. 1994 Jul;124(2):119-40. doi: 10.1016/0022-510x(94)90318-2. J Neurol Sci. 1994. PMID: 7964863 Review.
The second group is characterized by chromosomal deletions or uniparental disomies. Lissencephaly and the Miller-Dieker syndrome, Prader-Willi and Angelman syndromes and Duchenne and Becker muscular dystrophies belong to this category. The third group includes those …
The second group is characterized by chromosomal deletions or uniparental disomies. Lissencephaly and the Miller-Dieker syndrome, Pra …
[Angelman syndrome: clinical and genetic model].
Dan B, Chéron G. Dan B, et al. Rev Neurol (Paris). 2003 May;159(5 Pt 1):499-510. Rev Neurol (Paris). 2003. PMID: 12773895 Review. French.
Angelman syndrome is a neurogenetic disorder characterized by developmental delay, absence of speech, motor impairment, epilepsy and a peculiar behavioural phenotype associated with abnormalities of chromosome 15q11-13. ...Recent advances in molecular biology and an
Angelman syndrome is a neurogenetic disorder characterized by developmental delay, absence of speech, motor impairment, epilep
[Autism and epigenetics. A model of explanation for the understanding of the genesis in autism spectrum disorders].
Arberas C, Ruggieri V. Arberas C, et al. Medicina (B Aires). 2013;73 Suppl 1:20-9. Medicina (B Aires). 2013. PMID: 24072048 Free article. Review. Spanish.
Findings on the underlying biological and pathophysiological mechanisms of entities strongly associated with autism spectrum disorders, such as Rett, fragile X, Angelman, and fetal alcohol syndromes, point to the role of epigenetic changes in disorders of neurodevel …
Findings on the underlying biological and pathophysiological mechanisms of entities strongly associated with autism spectrum disorders, such …
11 results