Genotype and cognitive phenotype of patients with tuberous sclerosis complex.
about
Genetics of cognition in epilepsyCognitive impairment in childhood onset epilepsy: up-to-date information about its causesRegulation of mTORC1 by amino acidsIssues related to symptomatic and disease-modifying treatments affecting cognitive and neuropsychiatric comorbidities of epilepsyTiming 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) acGraded 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
P2860
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P2860
Genotype and cognitive phenotype of patients with tuberous sclerosis complex.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
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.
@en
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.
@en
P2093
P2860
P356
P1476
Genotype and cognitive phenotype of patients with tuberous sclerosis complex.
@en
P2093
Agnies M van Eeghen
David J Kwiatkowski
Elizabeth A Thiele
Margaret B Pulsifer
Margaux E Black
P2860
P2888
P304
P356
10.1038/EJHG.2011.241
P577
2011-12-21T00:00:00Z