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Elizabeth A Thiele Selected Research

Tuberous Sclerosis (Bourneville's Disease)

9/2022Tuberous sclerosis complex-associated nonfunctional pancreatic neuroendocrine tumors: Management and surgical outcomes.
1/2022Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex.
1/2022Long-term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open-label extension trial.
1/2021Gene therapy for tuberous sclerosis complex type 2 in a mouse model by delivery of AAV9 encoding a condensed form of tuberin.
1/2021Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.
1/2021Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.
7/2020The efficacy of cannabidiol on renal angiomyolipoma and subependymal giant cell tumor volume in tuberous sclerosis complex.
1/2020A telehealth approach to improving clinical trial access for infants with tuberous sclerosis complex.
11/2019Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
1/2019Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis.
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Elizabeth A Thiele Research Topics

Disease

65Tuberous Sclerosis (Bourneville's Disease)
09/2022 - 10/2002
43Epilepsy (Aura)
01/2020 - 09/2002
27Seizures (Absence Seizure)
01/2022 - 09/2005
21Drug Resistant Epilepsy
01/2022 - 02/2005
12Infantile Spasms (West Syndrome)
08/2016 - 07/2005
11Neoplasms (Cancer)
01/2022 - 02/2004
9Angiomyolipoma
01/2022 - 10/2002
9Inborn Genetic Diseases (Disease, Hereditary)
10/2016 - 12/2009
6Lennox Gastaut Syndrome
01/2021 - 07/2010
5Astrocytoma (Pilocytic Astrocytoma)
01/2021 - 10/2004
5Myoclonic Epilepsies (Myoclonic Encephalopathy)
01/2021 - 01/2017
3Angiofibroma
01/2022 - 01/2011
3Hamartoma
01/2022 - 10/2002
3Giant Cell Tumors (Giant Cell Tumor)
07/2020 - 10/2004
3Spasm (Spasms)
01/2020 - 02/2009
3Autism Spectrum Disorder
01/2020 - 02/2013
3Lymphangioleiomyomatosis (Lymphangiomyomatosis)
01/2019 - 09/2015
3Angelman Syndrome (Syndrome, Angelman)
01/2017 - 09/2012
3Cognitive Dysfunction
11/2010 - 12/2007
3Acidosis
06/2010 - 05/2002
2Cysts
09/2022 - 12/2009
2Diarrhea
01/2021 - 01/2017
2Brain Neoplasms (Brain Tumor)
01/2021 - 01/2011
2Sleepiness
01/2021 - 01/2017
2Fever (Fevers)
01/2017 - 01/2013
2Neurologic Manifestations (Neurological Manifestations)
10/2016 - 12/2007
2Lymphedema (Milroy Disease)
09/2015 - 06/2014
2Rhabdomyoma
07/2013 - 01/2011
2Autistic Disorder (Autism)
02/2013 - 12/2007
2Stomatitis
01/2013 - 01/2011
2Ketosis
09/2011 - 05/2009
1Neuroendocrine Tumors (Neuroendocrine Tumor)
09/2022
1Primitive Neuroectodermal Tumors (PNET)
09/2022
1Neoplasm Metastasis (Metastasis)
09/2022
1Disease Progression
01/2022
1Respiratory Tract Infections (Respiratory Tract Infection)
01/2022
1Ganglioglioma
01/2021
1Glioblastoma (Glioblastoma Multiforme)
01/2021
1Glioma (Gliomas)
01/2021
1CDKL5 deficiency disorder
01/2018
1Fibroma (Fibromatosis)
01/2018
1Perivascular Epithelioid Cell Neoplasms
01/2018
1Intestinal Volvulus (Volvulus)
01/2018
1Chemical and Drug Induced Liver Injury
01/2018
1Onchocerciasis
09/2017
1Vomiting
01/2017
1Cardiovascular Diseases (Cardiovascular Disease)
01/2017
1Fatigue
01/2017
1Body Weight (Weight, Body)
01/2017
1Thyroid Diseases (Thyroid Disease)
12/2015
1Lung Diseases (Lung Disease)
12/2015
1Thyroid Neoplasms (Thyroid Cancer)
12/2015
1Gastroesophageal Reflux (GERD)
02/2015
1Obesity
02/2015
1Scoliosis
02/2015
1Constipation
02/2015
1Sturge-Weber Syndrome (Sturge-Kalischer-Weber Syndrome)
08/2014

Drug/Important Bio-Agent (IBA)

58trans-sodium crocetinate (crocetin)IBA
09/2022 - 10/2002
18CannabidiolIBA
01/2022 - 06/2014
17Anticonvulsants (Antiepileptic Drugs)IBA
01/2021 - 05/2007
10Pharmaceutical PreparationsIBA
01/2021 - 12/2010
6VigabatrinFDA Link
08/2016 - 07/2008
5Sirolimus (Rapamycin)FDA Link
01/2022 - 01/2011
4Clobazam (HR 376)IBA
12/2020 - 05/2013
4lipoarabinomannan (LAM)IBA
01/2019 - 01/2011
4Biomarkers (Surrogate Marker)IBA
01/2017 - 10/2005
3DNA (Deoxyribonucleic Acid)IBA
11/2019 - 11/2015
3TOR Serine-Threonine KinasesIBA
03/2016 - 04/2010
2Investigational DrugsIBA
01/2022 - 08/2015
2EverolimusFDA Link
01/2022 - 01/2013
2Tuberous Sclerosis Complex 2 ProteinIBA
01/2021 - 02/2004
2Mechanistic Target of Rapamycin Complex 1IBA
01/2021 - 04/2010
2SolutionsIBA
07/2020 - 01/2017
2Valproic Acid (Depakote)FDA LinkGeneric
01/2018 - 09/2005
2EnzymesIBA
01/2017 - 04/2013
2CarbohydratesIBA
01/2017 - 09/2012
2MTOR InhibitorsIBA
03/2016 - 01/2016
2Vascular Endothelial Growth Factor DIBA
01/2013 - 01/2011
2Topiramate (Topamax)FDA LinkGeneric
06/2010 - 09/2002
2Glucose (Dextrose)FDA LinkGeneric
05/2009 - 05/2002
2Bicarbonates (Hydrogen Carbonate)IBA
09/2002 - 05/2002
1Retinaldehyde (Retinal)IBA
01/2022
1FenfluramineIBA
12/2021
1RNA (Ribonucleic Acid)IBA
01/2021
1Tuberous Sclerosis Complex 1 ProteinIBA
01/2021
1CannabinoidsIBA
01/2020
1N-desmethylclobazam (norclobazam)IBA
01/2020
1EndostatinsIBA
01/2019
1DesminIBA
01/2018
1Transaminases (Aminotransferases)IBA
01/2018
1AntigensIBA
09/2017
1Apolipoproteins B (ApoB)IBA
01/2017
1ApolipoproteinsIBA
01/2017
1LacosamideFDA Link
05/2015

Therapy/Procedure

18Therapeutics
01/2020 - 09/2002
14Ketogenic Diet
06/2018 - 09/2002
1Withholding Treatment
01/2022
1Mass Drug Administration
01/2018
1Dental Care
02/2015
1Transition to Adult Care
08/2014