Genotype and cognitive phenotype of patients with tuberous sclerosis complex. - Wikidata - wikimedia - TriplyDB

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

http://www.wikidata.org/entity/Q35899354

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Genetics of cognition in epilepsy Cognitive impairment in childhood onset epilepsy: up-to-date information about its causes Regulation of mTORC1 by amino acids Issues related to symptomatic and disease-modifying treatments affecting cognitive and neuropsychiatric comorbidities of epilepsy Timing of mTOR activation affects tuberous sclerosis complex neuropathology in mouse models.Toward a 3D model of human brain development for studying gene/environment interactions.Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach.Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity.Rheb protein binds CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamoylase, and dihydroorotase) protein in a GTP- and effector domain-dependent manner and influences its cellular localization and carbamoyl-phosphate synthetase (CPSase) ac Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex.People with intellectual disability: what do we know about adulthood and life expectancy?Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins.Clinical utility gene card for: tuberous sclerosis complex (TSC1, TSC2).Cell biology. GATORs take a bite out of mTOR.Genotype and brain pathology phenotype in children with tuberous sclerosis complex.Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical epidemiological study.Autism Phenotypes in Tuberous Sclerosis Complex: Diagnostic and Treatment Considerations.A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex.Hamartoma-like lesions in the mouse retina: an animal model of Pten hamartoma tumour syndrome.Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

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P2860

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

http://www.wikidata.org/entity/Q35899354

description

2011 nî lūn-bûn

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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2011年论文

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2011年论文

@zh-cn

name

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

@ast

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

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type

label

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

@ast

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

@en

prefLabel

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

@ast

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

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European Journal of Human Genetics

P1476

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

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P2093

Agnies M van Eeghen

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David J Kwiatkowski

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Elizabeth A Thiele

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Margaret B Pulsifer

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Margaux E Black

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P2860

Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin

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

Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity

Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

Identification and characterization of the tuberous sclerosis gene on chromosome 16

MR evaluation of tuberous sclerosis: increased sensitivity with fluid-attenuated inversion recovery and relation to severity of seizures and mental retardation

The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex.

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.

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510-515

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10.1038/EJHG.2011.241

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5

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20

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22189265

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3330219

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