(Q51890699)

17 April 2018

title

Angelman syndrome due to a novel splicing mutation of the UBE3A gene. (English)

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17 April 2018

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1

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17 April 2018

author name string

Laura Anesi

2

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17 April 2018

Roberta Polli

3

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17 April 2018

Irene Toldo

4

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17 April 2018

Alberto Casarin

5

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17 April 2018

Paola Drigo

6

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17 April 2018

Alessandra Murgia

7

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17 April 2018

publication date

16 May 2008

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17 April 2018

Journal of Child Neurology

published in

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17 April 2018

volume

23

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17 April 2018

issue

8

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17 April 2018

page(s)

912-915

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17 April 2018

Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms

cites work

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https://api.crossref.org/works/10.1177%2F0883073808316367

Angelman syndrome: a review of the clinical and genetic aspects

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808316367

Diagnosis of Angelman syndrome: clinical and EEG criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808316367

Neurological aspects of the Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808316367

GABAA receptor beta3 subunit gene-deficient heterozygous mice show parent-of-origin and gender-related differences in beta3 subunit levels, EEG, and behavior

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808316367

Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808316367

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808316367

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808316367

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808316367

UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808316367

UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808316367

Mutation analysis of UBE3A in Angelman syndrome patients

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808316367

Germline mosaicism of a novelUBE3A mutation in Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808316367

21 January 2018

Identifiers

DOI

10.1177/0883073808316367

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17 April 2018

PubMed ID

18487518

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17 April 2018