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 Epilepsy and the sleep?wake patterns found in AS Populair

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Conant KD 2009 Epilepsia e-pub.pdf

Epilepsy and the sleep?wake patterns found in Angelman syndrome Kerry D. Conant, Ronald L. Thibert, and Elizabeth A. Thiele Epilepsia, **(*):1?4, 2009

 

pdf Epilepsy in AS:: A questionnaire-based assessment of the natural history & current treatment options Populair

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Thibert RL 2009 Epilepsia e-pub.pdf

Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options Ronald L. Thibert, Kerry D. Conant, Eileen K. Braun, Patricia Bruno, Rana R. Said, Mark P. Nespeca, and Elizabeth A. Thiele Epilepsia, **(*):1?8, 2009

 

pdf Establishing the epigenetic status of the PWS/AS imprinting center in the gametes and embryo Populair

Door 911 downloads

Establishing the epigenetic status of the Prader-Willi/Angelman imprinting center in the gametes and embryo

Boris Kantor et al

Human Molecular Genetics
2004, Vol. 13, No. 22

pdf Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect Populair

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Brockmann et al.pdf

Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect

Brockmann, K et al.

Journal of Medical Genetics
(2002) 39:51

pdf Flumazenil Positron Emiss. Tomogr. Analyses of Brain Gamma-Aminobutyric Acid Type A Receptors in AS Populair

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Asahina 2008 J Pediatr 152-546.pdf

Flumazenil Positron Emission Tomography Analyses of Brain Gamma-Aminobutyric Acid Type A Receptors in Angelman Syndrome

NAOKO ASAHINA, MD, TOHRU SHIGA, MD, PHD, KIYOSHI EGAWA, MD, HIDEAKI SHIRAISHI, MD, PHD, SHINOBU KOHSAKA, MD, PHD,
AND SHINJI SAITOH, MD, PHD
The Journal of Pediatrics ? April 2008

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

pdf From Electrophysiology to Chromatin: A Bottom-Up Approach to Angelman Syndrome Populair

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From Electrophysiology to Chromatin.pdf

From Electrophysiology to Chromatin: A Bottom-Up Approach to Angelman Syndrome

Bernhard Dan, Laurent Servais, Stewart G. Boyde, Joseph Wagstaff, and Guy Cheron

Signal Transduction Pathways, Chromatin Structures, and Gene Expression Mechanisms as Therapeutic Targets Volume 1030 published December 2004

pdf Genetic Counseling in Angelman Syndrome: The Challenges of Multiple Causes Populair

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Angel genetic counseling.pdf

Genetic Counseling in Angelman Syndrome: The Challenges of Multiple Causes

Heather J. Stalker, and Charles A. Williams.

American Journal of Medical Genetics
77: 54-59 (1998).

pdf Genetic engineering cures mice of neurological deficits Populair

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07_Pharmacogenomics.pdf

Genetic engineering cures mice of neurological deficits: prospects for treating Angelman syndrome

Ype Elgersma

Pharmacogenomics (2007), 8(6), 539-541

pdf Genetic Testing for Angelman Syndrome Populair

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GeneticTestingforAS.pdf

Genetic Testing for Angelman Syndrome

Clayton-Smith, Jill. ASSERT Information Sheet No. 67

pdf Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a Populair

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Sato M 2010 PNAS e-pub.pdf

A defect in the maternal copy of a ubiqutin ligase gene Ube3a can produce a neurodevelopmental defect in human children known as Angelman syndrome. We investigated the role of the maternally expressed Ube3a gene in experience-dependent development and plasticity of the mouse visual system. As demonstrated by optical imaging, rapid ocular dominance (OD) plasticity after brief monocular deprivation (MD) was severely impaired during the critical period (CP) in the visual cortex (VC) of Ube3a maternal-deficient (m?/p+) mice. Prolonged MD elicited significant plasticity in m?/ p+ mice that never matched the level seen in control animals. In older animals after the CP, 7-day MD elicited mild OD shifts in both control and m?/p+ mice; however, the OD shifts in m?/p+ mice
lacked the strengthening of visual responses to the two eyes characteristic of normal adult plasticity. Anatomic effects of the maternal deficiency include reduced spine density on basal, but not apical, dendrites of pyramidal neurons in the binocular region of the VC. Imprinting of Ube3a expression was not fully established in the early postnatal period, consistent with the normal development of cortical retinotopy and visual acuity that we observed in
m?/p+ mice, but was fully established by the onset of the CP. These results demonstrate that paternal and maternal genomes are not functionally equivalent for cortical plasticity, and that maternally expressed Ube3a is required for normal experience-dependent modification of cortical circuits during and after the CP. A defect in the maternal copy of a ubiqutin ligase gene Ube3a canproduce a neurodevelopmental defect in human children known asAngelman syndrome. We investigated the role of the maternallyexpressed Ube3a gene in experience-dependent development andplasticity of the mouse visual system. As demonstrated by opticalimaging, rapid ocular dominance (OD) plasticity after brief monoculardeprivation (MD) was severely impaired during the criticalperiod (CP) in the visual cortex (VC) of Ube3a maternal-deficient(m?/p+) mice. Prolonged MD elicited significant plasticity in m?/p+ mice that never matched the level seen in control animals. Inolder animals after the CP, 7-day MD elicited mild OD shifts in bothcontrol and m?/p+ mice; however, the OD shifts in m?/p+ micelacked the strengthening of visual responses to the two eyes characteristicof normal adult plasticity. Anatomic effects of the maternaldeficiency include reduced spine density on basal, but notapical, dendrites of pyramidal neurons in the binocular region ofthe VC. Imprinting of Ube3a expression was not fully established inthe early postnatal period, consistent with the normal developmentof cortical retinotopy and visual acuity that we observed inm?/p+ mice, but was fully established by the onset of the CP. Theseresults demonstrate that paternal and maternal genomes are notfunctionally equivalent for cortical plasticity, and that maternallyexpressed Ube3a is required for normal experience-dependentmodification of cortical circuits during and after the CP.

Masaaki Satoa and Michael P. Strykera

 www.pnas.org/cgi/doi/10.1073/pnas.1001281107

pdf Genomic inversions of human chrom. 15q11& q13 in Populair

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Genomic inversions of human chromosome 15q11& q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletion

Gimelli et al

Human Molecular Genetics, 2003, Vol. 12, No. 8

pdf Identification of novel deletions of 15q11q13 Populair

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Identification_of_novel deletions.pdf

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU.

European Journal of Human Genetics advance online publication 23 May 2007;

pdf Imprinted gene expression in the brain Populair

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Imprinted gene expression in the brain

William Davies et al


Neuroscience and Biobehavioral Reviews
xx (2004) 1-10

pdf Imprinting and assisted reproductive technology Populair

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Imprinting and assisted reproductive technology

Eamonn Maher

Human Molecular Genetics
2005, Vol. 14, Review Issue 1

pdf Imprinting in Angelman and Prader-Willi syndromes Populair

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Imprinting in Angelman and Prader-Willi syndromes

Yong-hui Jiang,et al.

Current Opinion in Genetics & Development
1998, 8:334-342

pdf Imprinting in Prader-Willi and Angelman syndromes Populair

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Nicholls et al.pdf

Imprinting in Prader-Willi and Angelman syndromes

Robert Nicholls et al
TIG MAY 1998 VOL. 14 NO. 5

pdf Investigation of UBE3A and MECP2 In Angelman Syndrome (AS) and Patients with Features of AS Populair

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Investigation of UBE3A and MECP2 In Angelman Syndrome (AS) and Patients with Features of AS

Megan P. Hitchins, Sarah Rickard, Fatima Dhalla, Bert B. A. de Vries, Robin Winter, Marcus E. Pembrey, and Sue Malcolm.

American Journal of Medical Genetics
125A: 167-172 (2004)

pdf Lamotrigine Effect on GABA Transmission in Angelman Syndrome? Populair

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Lamotrigine Effect on GABA Transmission in.pdf

Lamotrigine Effect on GABA Transmission in Angelman Syndrome?

Bernard Dan, Stewart G. Boyd, Karine Pelc, Guy Cheron

Letter to the Editor of Epilepsia, August, 2007

 

pdf Lamotrigine Therapy of Epilepsy with Angelman's Syndrome Populair

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Lamotrigine Therapy of Epilepsy with Angelman.pdf

Abstract of:
Lamotrigine Therapy of Epilepsy with Angelman's Syndrome

Marie-Hélène Dion, Edward J. Novotny Jr., Lionel Carmant, Patrick Cossette and Dang Khoa Nguyen

pdf Large geneomic duplicons to map sites in the Prader-Willi / AS chromosome region (15q11 - q13) Populair

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Large geneomic duplicons to map sites in the Prader-Willi / Angelman Syndrome chromosome region (15q11 - q13)

Christian, Susan et al.

Human Molecular Genetics
1999, Vol. 8, No. 6