(Q38525506)

3 September 2017

1 reference

title

Neurological and neuropsychiatric aspects of tuberous sclerosis complex (English)

1 reference

3 September 2017

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26067126%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Paolo Curatolo

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26067126%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Petrus J de Vries

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26067126%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

publication date

1 July 2015

1 reference

3 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26067126%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26067126%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26067126%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

733-745

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26067126%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

mTOR: A pathogenic signaling pathway in developmental brain malformations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Prevalence of tuberous sclerosis estimated by capture-recapture analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Developmental brain abnormalities in tuberous sclerosis complex: a comparative tissue analysis of cortical tubers and perituberal cortex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Subependymal giant cell astrocytoma--a clinicopathological study of 23 cases with special emphasis on histogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Causes of Death in Patients With Tuberous Sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

The natural history of epilepsy in tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Epilepsy in TSC: certain etiology does not mean certain prognosis.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Pilot validation of the tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Advances in the treatment of tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Autism spectrum disorders in tuberous sclerosis: pathogenetic pathways and implications for treatment

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Attention-deficit hyperactivity disorder (ADHD) and tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

The tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Neuropsychological attention deficits in tuberous sclerosis complex (TSC)

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Neuroanatomical correlates of memory deficits in tuberous sclerosis complex.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Neuropsychological attention skills and related behaviours in adults with tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Tuberous Sclerosis Complex Renal Disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Lymphangioleiomyomatosis - a wolf in sheep's clothing.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Pulmonary lymphangioleiomyomatosis in a man.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Radiological evidence of lymphangioleiomyomatosis in female and male patients with tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Lymphangioleiomyomatosis screening in women with tuberous sclerosis.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Severity and outcome of cystic lung disease in women with tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Role of mTOR in physiology and pathology of the nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Reelin signals through phosphatidylinositol 3-kinase and Akt to control cortical development and through mTor to regulate dendritic growth.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Rapamycin reveals an mTOR-independent repression of Kv1.1 expression during epileptogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Epileptogenesis and reduced inward rectifier potassium current in tuberous sclerosis complex-1-deficient astrocytes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

The tuberous sclerosis complex proteins--a GRIPP on cognition and neurodevelopment

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Recent advances in neurobiology of Tuberous Sclerosis Complex.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Epilepsy and Tsc2 Haploinsufficiency Lead to Autistic-Like Social Deficit Behaviors in Rats

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Unusually mild tuberous sclerosis phenotype is associated withTSC2R905Q mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Randomized trial comparing vigabatrin and hydrocortisone in infantile spasms due to tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Vigabatrin inhibits seizures and mTOR pathway activation in a mouse model of tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Does vigabatrin treatment for infantile spasms cause visual field defects? An international multicentre study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Predictors of seizure freedom after surgical management of tuberous sclerosis complex: a systematic review and meta-analysis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Predictors of seizure-free outcome after epilepsy surgery for pediatric tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Vagal nerve stimulation in tuberous sclerosis complex patients.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Vagus nerve stimulation for intractable epilepsy in tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Refractory epilepsy in tuberous sclerosis: vagus nerve stimulation with or without subsequent resective surgery

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Vagus nerve stimulation for refractory epilepsy in tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

The ketogenic diet inhibits the mammalian target of rapamycin (mTOR) pathway

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Tuberous sclerosis complex and the ketogenic diet

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

The effects of the ketogenic diet in refractory partial seizures with reference to tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Low glycemic index treatment for epilepsy in tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Everolimus in tuberous sclerosis patients with intractable epilepsy: a treatment option?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Rapamycin causes regression of astrocytomas in tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Consensus clinical guidelines for the assessment of cognitive and behavioural problems in Tuberous Sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Efficacy and safety of sirolimus in lymphangioleiomyomatosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Treatment of angiofibromas in tuberous sclerosis complex: the effect of topical rapamycin and concomitant laser therapy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021

Is mTOR inhibition a systemic treatment for tuberous sclerosis?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2815%2900069-1

7 January 2021