(Q48619542)

13 February 2018

title

Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary (English)

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13 February 2018

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Attila Mokánszki

1

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13 February 2018

Ivett Körhegyi

2

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13 February 2018

Nóra Szabó

3

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13 February 2018

Edit Bereg

4

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13 February 2018

Gyurgyinka Gergev

5

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13 February 2018

Erzsébet Balogh

6

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13 February 2018

Beáta Bessenyei

7

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13 February 2018

Andrea Sümegi

8

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13 February 2018

Deborah J Morris-Rosendahl

9

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13 February 2018

László Sztriha

10

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13 February 2018

Eva Oláh

11

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13 February 2018

publication date

8 March 2012

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13 February 2018

Journal of Child Neurology

published in

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13 February 2018

volume

27

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13 February 2018

issue

12

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13 February 2018

page(s)

1534-1540

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13 February 2018

Pathogenesis of migration disorders

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Epidemiology of Lissencephaly Type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Neuronal migration disorders: clinical, neuroradiologic and genetics aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Location and type of mutation in the LIS1 gene do not predict phenotypic severity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Analysis of lissencephaly-causingLIS1mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

The structure of the N-terminal domain of the product of the lissencephaly gene Lis1 and its functional implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Platelet-activating factor acetylhydrolase expression and activity suggest a link between neuronal migration and platelet-activating factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian Lis1

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Expression patterns of LIS1, dynein and their interaction partners dynactin, NudE, NudEL and NudC in human gliomas suggest roles in invasion and proliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

LIS1 RNA interference blocks neural stem cell division, morphogenesis, and motility at multiple stages

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

RNAi reveals doublecortin is required for radial migration in rat neocortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811436326

21 January 2018

Identifiers

DOI

10.1177/0883073811436326

1 reference

13 February 2018

1 reference

13 February 2018