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145 results

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Page 1
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 unde …
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 …
Management of Sleep Disorders in Children With Neurodevelopmental Disorders: A Review.
Blackmer AB, Feinstein JA. Blackmer AB, et al. Pharmacotherapy. 2016 Jan;36(1):84-98. doi: 10.1002/phar.1686. Pharmacotherapy. 2016. PMID: 26799351 Review.
Examples of NDDs discussed in this review include autism spectrum disorder, cerebral palsy, Rett syndrome, Angelman syndrome, Williams syndrome, and Smith-Magenis syndrome. The etiology of sleep disorders in children with NDDs is largely heterogeneous and disease sp …
Examples of NDDs discussed in this review include autism spectrum disorder, cerebral palsy, Rett syndrome, Angelman syndrome, …
Taurine and its analogs in neurological disorders: Focus on therapeutic potential and molecular mechanisms.
Jakaria M, Azam S, Haque ME, Jo SH, Uddin MS, Kim IS, Choi DK. Jakaria M, et al. Redox Biol. 2019 Jun;24:101223. doi: 10.1016/j.redox.2019.101223. Epub 2019 May 21. Redox Biol. 2019. PMID: 31141786 Free PMC article. Review.
Several findings demonstrate its therapeutic role against neurodevelopmental disorders, including Angelman syndrome, Fragile X syndrome, sleep-wake disorders, neural tube defects and attention-deficit hyperactivity disorder. ...Herein, we present an overview on the …
Several findings demonstrate its therapeutic role against neurodevelopmental disorders, including Angelman syndrome, Fragile X …
Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases.
Holm A, Hansen SN, Klitgaard H, Kauppinen S. Holm A, et al. RNA Biol. 2022;19(1):594-608. doi: 10.1080/15476286.2022.2066334. Epub 2021 Dec 31. RNA Biol. 2022. PMID: 35482908 Free PMC article.
Here, we describe different strategies for delivering RNA drugs to the CNS and review recent advances in clinical development of ASO drugs and siRNA-based therapeutics for the treatment of neurological diseases and neuromuscular disorders.Abbreviations 2'-MOE: 2'-O-(2-meth …
Here, we describe different strategies for delivering RNA drugs to the CNS and review recent advances in clinical development of ASO …
Therapies in preclinical and clinical development for Angelman syndrome.
Markati T, Duis J, Servais L. Markati T, et al. Expert Opin Investig Drugs. 2021 Jul;30(7):709-720. doi: 10.1080/13543784.2021.1939674. Epub 2021 Jun 28. Expert Opin Investig Drugs. 2021. PMID: 34112038 Review.
There is no disease-modifying treatment available, but the therapeutic pipeline of Angelman syndrome includes at least 15 different approaches at preclinical or clinical development. ...Another therapeutic category includes compounds that target molecular pat …
There is no disease-modifying treatment available, but the therapeutic pipeline of Angelman syndrome includes at least 15 diff …
Angelman syndrome and melatonin: What can they teach us about sleep regulation.
Buonfiglio D, Hummer DL, Armstrong A, Christopher Ehlen J, DeBruyne JP. Buonfiglio D, et al. J Pineal Res. 2020 Nov;69(4):e12697. doi: 10.1111/jpi.12697. Epub 2020 Oct 11. J Pineal Res. 2020. PMID: 32976638 Free PMC article. Review.
Over the past 50 years, the disorder became Angelman's namesake and symptomology was expanded to include hyper-activity, stereotypies, and severe sleep disturbances. The sleep disorders in many Angelman syndrome (AS) patients are broadly characterized by difficulty …
Over the past 50 years, the disorder became Angelman's namesake and symptomology was expanded to include hyper-activity, stereotypies, and s …
Therapeutic approach to neurological manifestations of Angelman syndrome.
Ascoli M, Elia M, Gasparini S, Bonanni P, Mastroianni G, Cianci V, Neri S, Pascarella A, Santangelo D, Aguglia U, Ferlazzo E. Ascoli M, et al. Expert Rev Clin Pharmacol. 2022 Jul;15(7):843-850. doi: 10.1080/17512433.2022.2109463. Epub 2022 Aug 10. Expert Rev Clin Pharmacol. 2022. PMID: 35917229 Review.
INTRODUCTION: Angelman syndrome (AS) is a neurogenetic disorder due to deficient expression of the maternal copy of the UBE3A gene, which encodes ubiquitin ligase E3A protein. ...Mild dystonia is common but usually does not significantly impact patients' motor perfo …
INTRODUCTION: Angelman syndrome (AS) is a neurogenetic disorder due to deficient expression of the maternal copy of the UBE3A …
Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.
Copping NA, McTighe SM, Fink KD, Silverman JL. Copping NA, et al. Neurotherapeutics. 2021 Jul;18(3):1535-1547. doi: 10.1007/s13311-021-01082-x. Epub 2021 Sep 15. Neurotherapeutics. 2021. PMID: 34528170 Free PMC article. Review.
Angelman syndrome (AS) is a rare (~1:15,000) neurodevelopmental disorder characterized by severe developmental delay and intellectual disability, impaired communication skills, and a high prevalence of seizures, sleep disturbances, ataxia, motor deficits, and microc …
Angelman syndrome (AS) is a rare (~1:15,000) neurodevelopmental disorder characterized by severe developmental delay and intel …
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 …
145 results