Severe CNS involvement in WWOX mutations: Description of five new cases. (Q52919014)

9 May 2018

title

Severe CNS involvement in WWOX mutations: Description of five new cases. (English)

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Fowzan S Alkuraya

object named as

Fowzan S Alkuraya

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9 May 2018

Brahim Tabarki

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9 May 2018

Amal AlHashem

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Saad AlShahwan

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Satyanarayana Gedela

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9 May 2018

language of work or name

English

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publication date

8 September 2015

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American Journal of Medical Genetics

published in

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volume

167A

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issue

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9 May 2018

page(s)

3209-3213

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9 May 2018

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

cites work

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https://api.crossref.org/works/10.1002%2FAJMG.A.37363

A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37363

Hyaluronidase induction of a WW domain-containing oxidoreductase that enhances tumor necrosis factor cytotoxicity

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37363

Consanguinity among the Saudi Arabian population

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37363

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37363

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37363

Frequent loss of WWOX expression in breast cancer: correlation with estrogen receptor status

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37363

A spontaneous mutation of the Wwox gene and audiogenic seizures in rats with lethal dwarfism and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37363

Down-regulation of WW domain-containing oxidoreductase induces Tau phosphorylation in vitro. A potential role in Alzheimer's disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37363

Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37363

The fragile site WWOX gene and the developing brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37363

WW domain-containing oxidoreductase promotes neuronal differentiation via negative regulation of glycogen synthase kinase 3β.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37363

Gene mapping and expression analysis of 16q loss of heterozygosity identifies WWOX and CYLD as being important in determining clinical outcome in multiple myeloma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37363

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37363

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9 May 2018

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