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Items: 1 to 20 of 83


RNF8/UBC13 ubiquitin signaling suppresses synapse formation in the mammalian brain.

Valnegri P, Huang J, Yamada T, Yang Y, Mejia LA, Cho HY, Oldenborg A, Bonni A.

Nat Commun. 2017 Nov 2;8(1):1271. doi: 10.1038/s41467-017-01333-6.


Self-domestication in Homo sapiens: Insights from comparative genomics.

Theofanopoulou C, Gastaldon S, O'Rourke T, Samuels BD, Messner A, Martins PT, Delogu F, Alamri S, Boeckx C.

PLoS One. 2017 Oct 18;12(10):e0185306. doi: 10.1371/journal.pone.0185306. eCollection 2017.


Unmet clinical needs and burden in Angelman syndrome: a review of the literature.

Wheeler AC, Sacco P, Cabo R.

Orphanet J Rare Dis. 2017 Oct 16;12(1):164. doi: 10.1186/s13023-017-0716-z. Review.


Strain-dependence of the Angelman Syndrome phenotypes in Ube3a maternal deficiency mice.

Born HA, Dao AT, Levine AT, Lee WL, Mehta NM, Mehra S, Weeber EJ, Anderson AE.

Sci Rep. 2017 Aug 16;7(1):8451. doi: 10.1038/s41598-017-08825-x.


Activity-Dependent Arc Expression and Homeostatic Synaptic Plasticity Are Altered in Neurons from a Mouse Model of Angelman Syndrome.

Pastuzyn ED, Shepherd JD.

Front Mol Neurosci. 2017 Jul 28;10:234. doi: 10.3389/fnmol.2017.00234. eCollection 2017.


Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a.

Sato M.

Front Cell Neurosci. 2017 Mar 7;11:62. doi: 10.3389/fncel.2017.00062. eCollection 2017. Review.


The dilemma of diagnostic testing for Prader-Willi syndrome.

Smith A, Hung D.

Transl Pediatr. 2017 Jan;6(1):46-56. doi: 10.21037/tp.2016.07.04. Review.


Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient.

Micheletti S, Palestra F, Martelli P, Accorsi P, Galli J, Giordano L, Trebeschi V, Fazzi E.

Ital J Pediatr. 2016 Oct 21;42(1):91.


From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study.

Aghakhanyan G, Bonanni P, Randazzo G, Nappi S, Tessarotto F, De Martin L, Frijia F, De Marchi D, De Masi F, Kuppers B, Lombardo F, Caramella D, Montanaro D.

PLoS One. 2016 Sep 14;11(9):e0162817. doi: 10.1371/journal.pone.0162817. eCollection 2016.


Angelman Syndrome: A Case Report.

Ashrafzadeh F, Sadrnabavi A, Akhondian J, Beiraghi Toosi M, Mohammadi M, Hassanpour K.

Iran J Child Neurol. 2016 Spring;10(2):86-9.


Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila.

Li W, Yao A, Zhi H, Kaur K, Zhu YC, Jia M, Zhao H, Wang Q, Jin S, Zhao G, Xiong ZQ, Zhang YQ.

PLoS Genet. 2016 May 27;12(5):e1006062. doi: 10.1371/journal.pgen.1006062. eCollection 2016 May.


Genomic Imprinting: A New Epigenetic Perspective of Sleep Regulation.

Tucci V.

PLoS Genet. 2016 May 26;12(5):e1006004. doi: 10.1371/journal.pgen.1006004. eCollection 2016 May. Review. No abstract available.


Maternal Loss of Ube3a Impairs Experience-Driven Dendritic Spine Maintenance in the Developing Visual Cortex.

Kim H, Kunz PA, Mooney R, Philpot BD, Smith SL.

J Neurosci. 2016 Apr 27;36(17):4888-94. doi: 10.1523/JNEUROSCI.4204-15.2016.


Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features.

Aypar U, Hoppman NL, Thorland EC, Dawson DB.

Mol Cytogenet. 2016 Mar 22;9:26. doi: 10.1186/s13039-016-0233-0. eCollection 2016.


Drugging the methylome: DNA methylation and memory.

Kennedy AJ, Sweatt JD.

Crit Rev Biochem Mol Biol. 2016 May-Jun;51(3):185-94. doi: 10.3109/10409238.2016.1150958. Epub 2016 Feb 25. Review.


Potential therapeutic approaches for Angelman syndrome.

Bi X, Sun J, Ji AX, Baudry M.

Expert Opin Ther Targets. 2016;20(5):601-13. doi: 10.1517/14728222.2016.1115837. Epub 2015 Nov 26. Review.


Neurodevelopmental Underpinnings of Angelman Syndrome.

Li G, Qiu S.

J Bioanal Biomed. 2014 Dec;6(6):052056. Epub 2014 Nov 14. No abstract available.


Angelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: a case report.

Ranasinghe JC, Chandradasa D, Fernando S, Kodithuwakku U, Mandawala DE, Dissanayake VH.

J Med Case Rep. 2015 Jun 16;9:142. doi: 10.1186/s13256-015-0622-8.


Angelman syndrome: The blurred lines of interpretation in cognitive defects.

Mane S, Chatterjee R.

J Pediatr Neurosci. 2015 Jan-Mar;10(1):70-2. doi: 10.4103/1817-1745.154360.


Seizure-like activity in a juvenile Angelman syndrome mouse model is attenuated by reducing Arc expression.

Mandel-Brehm C, Salogiannis J, Dhamne SC, Rotenberg A, Greenberg ME.

Proc Natl Acad Sci U S A. 2015 Apr 21;112(16):5129-34. doi: 10.1073/pnas.1504809112. Epub 2015 Apr 6.

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