(Q34525200)

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Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.

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10 November 2019

Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112044%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

mutational analysis

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based on heuristic

inferred from title

4

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10 November 2019

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Albert J Becker

1

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10 November 2019

Horst Urbach

2

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10 November 2019

Björn Scheffler

3

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10 November 2019

Sabine Normann

5

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10 November 2019

Rainer Lahl

6

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10 November 2019

Heinz W Pannek

7

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10 November 2019

Ingrid Tuxhorn

8

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10 November 2019

Christian E Elger

9

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10 November 2019

Johannes Schramm

10

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10 November 2019

Otmar D Wiestler

11

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10 November 2019

Ingmar Blümcke

12

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10 November 2019

publication date

1 July 2002

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10 November 2019

Annals of Neurology

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10 November 2019

52

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10 November 2019

1

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10 November 2019

29-37

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10 November 2019

Cortical malformations and epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Cell migration and cerebral cortical development

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Biological mechanisms influencing the outcome of seizures in response to fever

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Focal cortical dysplasia of Taylor's balloon cell type: a clinicopathological entity with characteristic neuroimaging and histopathological features, and favorable postsurgical outcome.

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

The Drosophila tuberous sclerosis complex gene homologs restrict cell growth and cell proliferation

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

gigas, a Drosophila homolog of tuberous sclerosis gene product-2, regulates the cell cycle

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Epilepsy and genetic malformations of the cerebral cortex

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Mutational analysis of TSC1 and TSC2 genes in gangliogliomas

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Tuberous sclerosis-like lesions in epileptogenic human neocortex lack allelic loss at the TSC1 and TSC2 regions

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Identification of expressed genes by laser-mediated manipulation of single cells

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Hereditary cancer: two hits revisited

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

Hamartin and tuberin interaction with the G2/M cyclin-dependent kinase CDK1 and its regulatory cyclins A and B

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor

1 reference

https://api.crossref.org/works/10.1002%2FANA.10251

21 January 2018

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