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Year Number of Results
2002 1
2003 1
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2007 1
2008 1
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2012 1
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2014 1
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2018 3
2021 2
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18 results

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Page 1
Updated Genotype-Phenotype Correlations in TSC.
Curatolo P, Trivisano M, Specchio N. Curatolo P, et al. Semin Pediatr Neurol. 2023 Oct;47:101086. doi: 10.1016/j.spen.2023.101086. Epub 2023 Sep 18. Semin Pediatr Neurol. 2023. PMID: 37919037 Review.
Paolo Curatolo MD, Romina Moavero MD, Denis Roberto, Federica Graziola Seminars in Pediatric Neurology Volume 22, Issue 4, December 2015, Pages 259-273 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of wide …
Paolo Curatolo MD, Romina Moavero MD, Denis Roberto, Federica Graziola Seminars in Pediatric Neurology Volume 22, Issue 4, December 2 …
From microcephaly to megalencephaly: determinants of brain size.
Pirozzi F, Nelson B, Mirzaa G. Pirozzi F, et al. Dialogues Clin Neurosci. 2018 Dec;20(4):267-282. doi: 10.31887/DCNS.2018.20.4/gmirzaa. Dialogues Clin Neurosci. 2018. PMID: 30936767 Free PMC article. Review.
Perturbations of each of these intricate steps can lead to abnormalities of brain size in humans, whether small (microcephaly) or large (megalencephaly). Abnormalities of brain growth can be clinically isolated or occur as part of complex syndro …
Perturbations of each of these intricate steps can lead to abnormalities of brain size in humans, whether small (microcephaly) …
Tuberous sclerosis complex-associated angiomyolipomas: focus on mTOR inhibition.
Budde K, Gaedeke J. Budde K, et al. Am J Kidney Dis. 2012 Feb;59(2):276-83. doi: 10.1053/j.ajkd.2011.10.013. Epub 2011 Nov 29. Am J Kidney Dis. 2012. PMID: 22130643 Review.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder promoting the development of benign tumors in multiple organ systems, including the skin, brain, and kidneys. ...Kidney angiomyolipomas are benign tumors composed of blood vessels, adipose tis …
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder promoting the development of benign tumors in multiple orga …
Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma.
Sarnat HB, Flores-Sarnat L. Sarnat HB, et al. Brain Dev. 2015 Jun;37(6):553-62. doi: 10.1016/j.braindev.2014.08.010. Epub 2014 Oct 19. Brain Dev. 2015. PMID: 25451314 Review.
Phosphorylated tau is abnormal in immature as in mature neurons. Several malformations are demonstrated in which upregulated tau may be important in pathogenesis. ...Other tauopathies of early life include: (2) tuberous sclerosis complex; (3) focal cortical …
Phosphorylated tau is abnormal in immature as in mature neurons. Several malformations are demonstrated in which upregulated tau may …
Genotype/Phenotype Correlations in Tuberous Sclerosis Complex.
Curatolo P, Moavero R, Roberto D, Graziola F. Curatolo P, et al. Semin Pediatr Neurol. 2015 Dec;22(4):259-73. doi: 10.1016/j.spen.2015.10.002. Epub 2015 Oct 21. Semin Pediatr Neurol. 2015. PMID: 26706013 Review.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of widespread hamartomatous lesions in various organs, including brain, skin, kidneys, heart, and eyes. ...They respectively encode for hamartin and tuberin, w …
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of widespread hamartomatou …
Neuroimaging of children following prenatal drug exposure.
Derauf C, Kekatpure M, Neyzi N, Lester B, Kosofsky B. Derauf C, et al. Semin Cell Dev Biol. 2009 Jun;20(4):441-54. doi: 10.1016/j.semcdb.2009.03.001. Epub 2009 Mar 13. Semin Cell Dev Biol. 2009. PMID: 19560049 Free PMC article. Review.
In particular, dopamine-rich cortical (e.g., frontal cortex) and subcortical (e.g., basal ganglia) fetal brain structures show evidence of vulnerability to intrauterine drug exposure suggesting that during brain development drugs of abuse share a speci …
In particular, dopamine-rich cortical (e.g., frontal cortex) and subcortical (e.g., basal ganglia) fetal brain structures show …
Nursing implications for the lifelong management of tuberous sclerosis complex.
Agricola K, Tudor C, Krueger D, Franz DN. Agricola K, et al. J Neurosci Nurs. 2013 Aug;45(4):226-42. doi: 10.1097/JNN.0b013e3182986146. J Neurosci Nurs. 2013. PMID: 23812052 Review.
Tuberous sclerosis complex (TSC) is a genetic disorder that can affect multiple organ systems, including the brain, heart, skin, kidney, and lung, by formation of benign hamartomas. ...Mutations to either the TSC1 (coding for hamartin) or TSC2 (coding for tuberin) g …
Tuberous sclerosis complex (TSC) is a genetic disorder that can affect multiple organ systems, including the brain, heart, ski …
Neuropsychiatric problems in tuberous sclerosis complex.
Asato MR, Hardan AY. Asato MR, et al. J Child Neurol. 2004 Apr;19(4):241-9. doi: 10.1177/088307380401900401. J Child Neurol. 2004. PMID: 15163088 Review.
Tuberous sclerosis complex is an autosomal dominant disorder characterized by abnormal cellular differentiation and proliferation, as well as abnormal neuronal migration. It is a disease affecting multiple organ systems and typically has brain involvement, causing s …
Tuberous sclerosis complex is an autosomal dominant disorder characterized by abnormal cellular differentiation and proliferation, as …
Cutaneous Manifestations of Tuberous Sclerosis.
Bakić M, Ratković M, Gledović B, Vujović B, Radunović D, Babić V, Prelević V. Bakić M, et al. Acta Dermatovenerol Croat. 2018 Apr;26(1):73-74. Acta Dermatovenerol Croat. 2018. PMID: 29782307 Review.
Polycystic kidney changes were verified by ultrasound when the patient was three years old, with the presence of several calcified nodules in lateral ventricles and supraventricularly in the brain as well as the existence of several hypopigmented maculae on the skin. Durin …
Polycystic kidney changes were verified by ultrasound when the patient was three years old, with the presence of several calcified nodules i …
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.
Watanabe K, Nakashima M, Kumada S, Mashimo H, Enokizono M, Yamada K, Kato M, Saitsu H. Watanabe K, et al. J Hum Genet. 2021 Dec;66(12):1193-1197. doi: 10.1038/s10038-021-00956-4. Epub 2021 Jul 1. J Hum Genet. 2021. PMID: 34211110 Review.
Heterozygous variants in TUBB encoding one of beta-tubulin isotypes are known to cause two overlapping developmental brain disorders, complex cortical dysplasia with other brain malformations (CDCBM) and congenital symmetric circum …
Heterozygous variants in TUBB encoding one of beta-tubulin isotypes are known to cause two overlapping developmental brain disorders, …
18 results