Neurological and neuropsychiatric aspects of tuberous sclerosis complex
P Curatolo, R Moavero, PJ de Vries - The Lancet Neurology, 2015 - thelancet.com
Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem
genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …
genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …
Genetic etiologies, diagnosis, and treatment of tuberous sclerosis complex
CL Salussolia, K Klonowska… - Annual Review of …, 2019 - annualreviews.org
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems due to an inactivating variant in either TSC1 or TSC2, resulting in the …
organ systems due to an inactivating variant in either TSC1 or TSC2, resulting in the …
Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy
P Curatolo, N Specchio, E Aronica - The Lancet Neurology, 2022 - thelancet.com
Tuberous sclerosis complex is a rare genetic disease associated with mutations in the TSC1
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …
Review of the treatment options for epilepsy in tuberous sclerosis complex: towards precision medicine
S Schubert-Bast, A Strzelczyk - Therapeutic advances in …, 2021 - journals.sagepub.com
Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by mutations in the
TSC1 or TSC2 genes, which encode proteins that antagonise the mammalian isoform of the …
TSC1 or TSC2 genes, which encode proteins that antagonise the mammalian isoform of the …
Epilepsy in tuberous sclerosis: phenotypes, mechanisms, and treatments
A Saxena, JR Sampson - Seminars in neurology, 2015 - thieme-connect.com
Epilepsy affects 75% to 90% of people with tuberous sclerosis, a multisystem genetic
disorder. Although seizures can occur for the first time at any age, onset in infancy or …
disorder. Although seizures can occur for the first time at any age, onset in infancy or …
Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review
L Hallett, T Foster, Z Liu, M Blieden… - … medical research and …, 2011 - Taylor & Francis
Objectives: Tuberous sclerosis complex (TSC) is a progressive genetic disorder
characterized by pervasive benign tumor growth. We sought to assess the current …
characterized by pervasive benign tumor growth. We sought to assess the current …
Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy
P Curatolo - Pediatric neurology, 2015 - Elsevier
Background Tuberous sclerosis complex is a multiorgan disease resulting from a mutation of
one of two TSC genes. The two gene products form a functional complex that regulates the …
one of two TSC genes. The two gene products form a functional complex that regulates the …
Tuberous sclerosis complex and epilepsy: recent developments and future challenges
GL Holmes, CE Stafstrom… - …, 2007 - Wiley Online Library
Tuberous sclerosis complex (TSC) is a congenital syndrome characterized by the
widespread development of benign tumors in multiple organs, caused by mutations in one of …
widespread development of benign tumors in multiple organs, caused by mutations in one of …
The role of mTOR inhibitors in the treatment of patients with tuberous sclerosis complex: evidence-based and expert opinions
P Curatolo, M Bjørnvold, PE Dill, JC Ferreira, M Feucht… - Drugs, 2016 - Springer
Tuberous sclerosis complex (TSC) is a genetic disorder arising from mutations in the TSC1
or TSC2 genes. The resulting over-activation of the mammalian target of rapamycin (mTOR) …
or TSC2 genes. The resulting over-activation of the mammalian target of rapamycin (mTOR) …
Tuberous sclerosis: a review of the past, present, and future
SP Uysal, M Şahin - Turkish journal of medical sciences, 2020 - journals.tubitak.gov.tr
Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is
characterized by cellular and tissue dysplasia in several organs. With the advent of genetic …
characterized by cellular and tissue dysplasia in several organs. With the advent of genetic …
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