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 Letter to Editor in re antiepileptic drugs Populair

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Antiepileptic drugs.pdf

Letter to Editor in re antiepileptic drugs

John Ostergaard and Thomas Balslev

Developmental Medicine & Child Neurology

43: 718-719. (2001)

pdf Levodopa responsive Parkinsonism in adults with Ange Populair

Door 1886 downloads

Levodopa responsive Parkinsonism in adults with Angelman Syndrome

pdf Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families Populair

Door 1148 downloads

Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families

Erika L. Nurmi et al

GENOMICS
Vol. 77, Numbers 1-2, September 2001

pdf Loss of dopaminergic neurons and resulting behavioral deficits in mouse model of Angelman syndrome Populair

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Mulherkar SA 2010 Neurobiol Dis e-pub.pdf

E6 associated protein is an E3 ubiquitin ligase encoded by the gene Ube3a. Deletion orloss of function of the maternally inherited allele of Ube3a leads to Angelman syndrome.In the present study, we show that maternal loss of Ube3a (Ube3am-/p+) in the mousemodel leads to motor deficits that could be attributed to the dysfunction of thenigrostriatal pathway. The number of tyrosine hydroxylase positive neurons in thesubstantia nigra was significantly reduced in Ube3am-/p+ mice as compared to the wildtype counterparts. The Ube3am-/p+ mice performed poorly in behavioral paradigmssensitive to nigrostriatal dysfunction. Even though the tyrosine hydroxylase staining wasapparently same in the striatum of both genotypes, the presynaptic and postsynapticproteins were significantly reduced in Ube3am-/p+ mice. These findings suggest that theabnormality in the nigrostriatal pathway along with the cerebellum produces the observedmotor dysfunctions in Ube3am-/p+ mice.

Shalaka A. Mulherkar and Nihar Ranjan Jana

Cellular and Molecular Neuroscience Laboratory, National Brain Research Centre,Manesar, Gurgaon - 122 050, India

pdf Manifestations in Institutionalised Adults with Angelman Syndrome Due to Deletion Populair

Door 1144 downloads

Manifestations in Institutionalised Adults with Angelman Syndrome Due to Deletion
Tis Saadanam et al.
American Journal of Medical Genetics.
70: 415-420 (1997)

pdf Manuelle Medizin bei Patienten mit Angelman-Syndrom Populair

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Riedel M 2001 Man Med Osteopath Med 39-133.pdf

M.Riedel · H. Lohse-Busch · Rheintalklinik, Bad Krozingen
Man Med Osteopath Med,  2001 · 39: 133?136 © Springer-Verlag 2001
Ebenso wie bei Patienten mit anderen zerebralen Bewegungsstörungen entwickeln sich beim Angelman-Syndrom (AS) im Laufe der Zeit über die eigentliche Ursache des genetischen Defektes hinaus erhebliche Sekundärstörungen
an Muskeln, Bändern und Gelenken. Unter Berücksichtigung der biomechanischen
und entwicklungsneurologischen Grenzen, die durch das genetische Defektsyndrom vorgegebenen werden, können mit geeigneten Mitteln der Manuellen Medizin sekundäre Funktionsstörungen auch bei diesen
Patienten gemindert werden. Methoden: Retrospektiv wurden bei 12 Kindern
(6 weibl., 6 männl.,Durchschnittsalter 4,5 Jahre) mit gesichertem Angelman-Syndrom die Behandlungsfolgen einer 2wöchigen ambulanten Komplextherapie unter Einschluss der Manuellen Medizin überprüft.
Ergebnisse: Alle Kinder haben sich in den vorgegebenen Therapiezielen verbessert. Die Eltern sind sich sicher, dass ein erneuter Behandlungsblock eine weitere Besserung bringen werde. Die vorgestellten Ergebnisse zeigen, dass mit der Manuellen Medizin bei Kindern mit Angelman-Syndrom eine Besserung der Lebensqualität erwartet werden darf.

pdf MeCP2 def. in Rett synd. causes epigen. aberrations at PWS/AS impr. cent. th. affects UBE3A express. Populair

Door 1191 downloads

MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression

Kirill Makedonski et al

Human Molecular Genetics
2005, Vol. 14, No. 8

pdf MeCP2 in neurons: closing in on the causes of Rett syndrome Populair

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MeCP2 in neurons: closing in on the causes of Rett syndrome

Caballero, Isabella & Brian Hendrich

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

pdf Melatonin for Chronic Insomnia in Angelman Syndrome: A Randomized Placebo-Controlled Trial Populair

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Braam melatonin in Angelman syndrome 2008 JCN.pdf

Wiebe Braam, Robert Didden, Marcel G. Smits and Leopold M. G. Curfs

J Child Neurol 2008; 23; 649

Previous studies suggested that melatonin improves sleep in insomniac patients with Angelman syndrome. To assess the efficacy of melatonin, a randomized placebo-controlled study was conducted in 8 children with Angelman syndrome with idiopathic chronic insomnia. After a 1-week baseline period, patients received, depending on age, either melatonin 5 or 2.5 mg, or placebo, followed by 4 weeks of open treatment. Parents recorded lights off time, sleep onset time, wake-up time, and epileptic seizures in a diary. Salivary melatonin levels were measured at baseline and the last evening of the fourth treatment week. Melatonin significantly advanced sleep onset by 28 minutes, decreased sleep latency by 32 minutes, increased total sleep time by 56 minutes, reduced the number of nights with wakes from 3.1 to 1.6 nights a week, and increased endogenous salivary melatonin levels. Parents were satisfied with these results. Indications that melatonin dose in Angelman syndrome patients should be low, are discussed.

pdf Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD Populair

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Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD

Bittel, Douglas, et al.

Genomics
85 (2005) 85 & 91

pdf Motor impairments, neurological signs, and developmental level in individuals with Angelman Syndrome Populair

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Motor impairments, neurological signs, and developmental level in individuals with Angelman Syndrome

Beckung, Eva, et al.

Developmental Medicine & Child Neurology
46: 239-243. (2004)

pdf Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy Populair

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Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy

Tomohiro Kumada et al

Brain & Development 27 (2005)
127-134

pdf Neurological aspects of the Angelman syndrome Populair

Door 1374 downloads

Neurological aspects of the Angelman syndrome

Charles Williams

Brain & Development
27 (2005) 88-94

pdf Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures Populair

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Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures

James S Sutcliffe et al
BMC Genomics 2003, 4:15

pdf Postural rhythmic muscle bursting activity in Angelman syndrome Populair

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Dan and Cheron.pdf

Postural rhythmic muscle bursting activity in Angelman syndrome

Bernard Dan & Guy Cheron

Brain & Development
26 (2004) 389-393

 

pdf Potential Pitfall in Prader-Willi and Angelman Syndrome Molecular Diagnosis Populair

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Potential Pitfall in Prader-Willi and Angelman Syndrome Molecular Diagnosis

Laurence Cuisset et al.

American Journal of Medical Genetics
80: 543-545 (1998)

pdf Prader Willi / Angelman and DiGeorge / Velocariofacial Syndrome Deletions: Diagnosis by PRINS Populair

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Angle diagnosis.pdf

Prader Willi / Angelman and DiGeorge / Velocariofacial Syndrome Deletions: Dianosis by Primed In Situ Labeling (PRINS)

Avarichan T. Tharapel, Jayarama S. Kadandale, Paula R. Martens, Stephen S. Watchel, R. Sid Wilroy Jr.

American Journal of Medical Genetics
107: 119-122 (2002)

pdf Preference for water-related items in Angelman Populair

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Didden R 2008 J Intellect Dev Disabil 33-59.pdf

Preference for water-related items in Angelman syndrome, Down syndrome and non-specific intellectual disability

Didden, Robert, Korzilius, Hubert, Sturmey, Peter, Lancioni, Giulio E. and Curfs, Leopold M. G.

Journal of Intellectual & Developmental Disability, 33:1, 59 - 64

pdf Psychosocial probl. coping strategies, & the need for inform. of parents of children with PWS & AS Populair

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ven den Borne et al.pdf

Psychosocial problems, coping strategies, and the need for information of parents of children with Prader-Willi syndrome and Angelman syndrome

H.W. van den Borne et al

Patient Education and Counseling
38 (1999) 205-216

pdf Quantitative Analysis of SRNPN Gene Methylation by Pyrosequencing as a Diagnostic Test for PWS & AS Populair

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Quantitative Analysis of SRNPN Gene Methylation by Pyrosequencing as a Diagnostic Test for Prader-Willi Syndrome and Angelman Syndrome