Voor het Angelman Syndroom

folder Research Articles

Below you will find a database containing Research Articles on the Angelman Syndrome/

We try to keep it as much up to date as possible. This is done with a team of people who search the internet or contact researches to ask for permission to post their articles. The articles are placed in their original language, most of the time English.

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pdf A Drosophila model for Angelman syndrome Populair

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Wu Y 2008 PNAS 105-12399.pdf

A Drosophila model for Angelman syndrome

Yaning Wu, Francois V. Bolduc, Kimberly Bell, Tim Tully, Yanshan Fang, Amita Sehgal, and Janice A. Fischer

PNAS, August 26, 2008 vol. 105 no. 34 12399?12404

This article also has been translated into non scientific language in the section Nina's Journal club

pdf A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australi Populair

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Thomson et al.pdf

A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953-2003

Thomson, A. et al

Disability and Rehabilitation
28(5):299-305, 2006

pdf A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree Populair

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Abaied Am J Med Genet A 2010.pdf

Abaied L, Trabelsi M, Chaabouni M, Kharrat M, Kraoua L, M'rad R, Tebib N, Maazoul F, Chaabouni H.

Faculté de Médecine de Tunis, Laboratoire de Génétique Humaine, Tunis, Tunisia.

We identified in a large Tunisian pedigree a novel UBE3A frameshift mutation in exon 16 coding region, and we expect that the resulting UBE3A truncated protein in our patients is non-functional since the mutation implies the catalytic region of the enzyme. The family includes 14 affected patients born from four sisters. This mutation was found in all surviving affected individuals and their mothers pointing out the importance of genetic counseling possibility in Angelman syndrome (AS). All patients had severe mental retardation with epilepsy and microcephaly. Minor clinical expression variation was observed among the investigated patients. The severity of clinical expression is related to the detected molecular variation: deletion of 15 bp and insertion of 7 bp. These results are concordant with the gene expression observed in previously reported individuals with AS and truncated UBE3A protein.

pdf A therapeutic trial in AS Populair

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A Therapeutic Trial in AS.pdf

Molecular genetics of Prader Willi Syndrome (PWS) and Angelman Syndrome (AS): Part II - A therapeutic trial in Angelman Syndrome (AS)

Dr. Arthur Beaudet and Associates

pdf Aberrant somatosensory-evoked responses imply GABAergic Populair

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Egawa K 2007 NeuroImage .pdf

Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndrome

Kiyoshi Egawa, Naoko Asahina, Hideaki Shiraishi,Kyousuke Kamada,Fumiya Takeuchi,Shingo Nakane, Akira Sudo, hinobu Kohsaka and Shinji Saitoh NeuroImage (2007)

pdf Abnormal myelination in Angelman syndrome Populair

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Harting I 2008 Eur J Paediatr Neurol e-pub.pdf

Abnormal myelination in Angelman syndrom

Inga Harting, Klaus Sartor, Johannes Zschocke, Bart Janssen, Friedrich Ebinger, Nicole I. Wolf

European journal of paediatric neurology xxx ( 2 0 0 8 ) 1 ? 6
This article also has been translated into non scientific language in the section Nina's Journal club

pdf Abstract: Are there distinctive sleep problems in Angelman syndrome? Populair

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Are there distinctive sleep problems in Angelman syndrome.pdf

Are there distinctive sleep problems in Angelman syndrome?

Pelc K, Cheron G, Boyd SG, Dan B.

Sleep Med. 2007 Aug 30

pdf Addr. needs of Parents & Children with Disab.: Especially in Times of School Transitions Populair

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Addressing the Needs of Parents and Their Children with Disabilities:
Especially in Times of School Transitions

Schermerhorn, Yvonne

pdf Altered GABAA Receptor Subunit Expression and Pharmacology in Human Angelman Syndrome Cortex Populair

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Roden WH 2010 Neurosci Lett e-pub.pdf

The neurodevelopmental disorder Angelman syndrome is most frequently causedby deletion of the maternally-derived chromosome 15q11-q13 region, which includes notonly the causative UBE3A gene, but also the beta3-alpha 5-gamma3 GABAA receptor subunit genecluster. GABAergic dysfunction has been hypothesized to contribute to the occurrence ofepilepsy and cognitive and behavioral impairments in this condition. In the present study,analysis of GABAA receptor subunit expression and pharmacology was performed incerebral cortex from four subjects with Angelman syndrome and compared to that fromcontrol tissue. The membrane fraction of frozen postmortem neocortical tissue wasisolated and subjected to quantitative Western blot analysis. The ratios of beta3/beta2 and alpha 5/alpha 1subunit protein expression in Angelman syndrome cortex were significantly decreasedwhen compared with controls. An additional membrane fraction was injected intoXenopus oocytes, resulting in incorporation of the brain membrane vesicles with theirassociated receptors into the oocyte cellular membrane. Two-electrode voltage clampanalysis of GABAA receptor currents was then performed. Studies of GABAA receptorpharmacology in Angelman syndrome cortex revealed increased current enhancement bythe alpha 1-selective benzodiazepine site agonist zolpidem and by the barbituratephenobarbital, while sensitivity to current inhibition by zinc was decreased. GABAAreceptor affinity and modulation by neurosteroids were unchanged. This shift in GABAAreceptor subunit expression and pharmacology in Angelman syndrome is consistent withimpaired extrasynaptic but intact to augmented synaptic cortical GABAergic inhibition,which could contribute to the epileptic, behavioral, and cognitive phenotypes of thedisorder.

W.H. Roden, L.D. Peugh, L.A. Jansen

Neuroscience Letters (2010), doi:10.1016/j.neulet.2010.08.001

pdf An unexpected recurrence of Angelman Syndrome sugesstive of maternal germ-line mosaicism of del (15) Populair

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AS recurrence.pdf

An unexpected recurrence of Angelman Syndrome sugesstive of maternal germ-line mosaicism of del (15)(q11q13) in a Finnish family.

Hannaleena Kokken and Jaakko Laitsi.

Human Genetics
107: 93-85 (2000)

pdf Analysis of Cerebellar Function in Ube3a Deficient Mice Reveals Novel Genotype Specific Behaviors Populair

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Heck D 2008 Hum Mol Genet e-pub April 15.pdf

Analysis of Cerebellar Function in Ube3a Deficient Mice Reveals Novel Genotype Specific Behaviors

Detlef Heck, Yu Zhao, Snigdha Roy, Mark S. LeDoux, and Lawrence T. Reiter

Hum Mol Genet e-pub April 15, 2008

pdf Angelman Syndrome 2005: Updated Consensus for Diagnostic Criteria Populair

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Williams et al.pdf

Angelman Syndrome 2005: Updated Consensus for Diagnostic Criteria

Williams, Charles et al

American Journal of Medical Genetics
140A:413-418 (2006)
This article also has been translated into non scientific language in the section Nina's Journal club

pdf Angelman Syndrome Reviewed from a Neurophysiological Perspective. Populair

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Angelman Syndrome Reviewed from a Neurophysiological Perspective.pdf

Angelman Syndrome Reviewed from a Neurophysiological Perspective. The UBE3A-GABRB3 Hypothesis

B. Dan1, S. G. Boyd

Department of Neurology, University Children's Hospital Queen Fabiola, Free University of Brussels (ULB), Brussels, Belgium

pdf Angelman Syndrome, a Parent?s Brochure for Parents Populair

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Angelman Syndrome, a Parent's Brochure for Parents.pdf

Angelman Syndrome, a Parent?s Brochure for Parents

Presentations at the 1st World Conference IASO - Tampere, Finland, 4-8 July, 2000
Presented by: Martha Sprowles, (New Hope, PA, USA) Mother of Sara (AS, b. 1985)

pdf Angelman Syndrome. Are the estimates too low? Populair

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Angel estimates.pdf

Angelman Syndrome. Are the estimates too low?

Buckley, Robert, Nuhad Dinno, and Patricia Weber.

American Journal of Medicl Genetics
80: 385 - 390 (1998)

pdf Angelman Syndrome: a review of the clinical and genetic aspects Populair

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Cleyton-smith.pdf

Angelman Syndrome: a review of the clinical and genetic aspects

J Clayton-Smith and L Laan

J. Med. Genet. 2003;40;87-95
doi:10.1136/jmg.40.2.87

pdf Angelman syndrome: evolution of the phenotype in adolescents and adults Populair

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Angelman syndrome: evolution of the phenotype in adolescents and adults

Clayton-Smith, Jill and L. Laan

Journal of Medical Genetics
40: 87-95. (2003)

pdf Angelman Syndrome: Finding the Lost Arc Populair

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Tai HC 2010 Cell 140-608.pdf

Angelman syndrome is a neurodevelopmental disorder caused by mutations in the maternally inherited UBE3A gene, which encodes a ubiquitin ligase. Greer et al. (2010) now identify a UBE3A substrate called Arc that promotes endocytosis of neuronal AMPA receptors, providing insight into synaptic defects that may underlie the cognitive deficits in Angelman syndrome. Angelman syndrome is a neurodevelopmental disorder caused by mutations in the maternallyinherited UBE3A gene, which encodes a ubiquitin ligase. Greer et al. (2010) now identify a UBE3Asubstrate called Arc that promotes endocytosis of neuronal AMPA receptors, providing insight intosynaptic defects that may underlie the cognitive deficits in Angelman syndrome.
Hwan-Ching Tai and Erin M. Schuman
Cell 140, March 5, 2010 ©2010 Elsevier Inc.

pdf Angelman syndrome: is there a characteristic EEG? Populair

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Laan and Vein.pdf

Angelman syndrome: is there a characteristic EEG?

Laura A.E.M. Laan & Alla A. Vein

Brain & Development
27 (2005) 80-87

pdf Angelman Syndrome: Mimicking Conditions and Phenotypes Populair

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Angel mimicks.pdf

Angelman Syndrome: Mimicking Conditions and Phenotypes

Charles, A. Williams, Amy Lossie, Daniel Driscoll, and the R.C. Philips Unit.

American Journal of Medical Genetics

101: 59-64 (2001)