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Quoted phrase not found in phrase index: "Cortical dysplasia, complex, with other brain malformations 12"
Page 1
Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex.
Tian X, Glass JE, Kwiatkowski DJ, Towbin AJ, Li Y, Sund KL, Krueger DA, Franz DN, McCormack FX, Gupta N. Tian X, et al. Ann Am Thorac Soc. 2021 May;18(5):815-819. doi: 10.1513/AnnalsATS.202008-911OC. Ann Am Thorac Soc. 2021. PMID: 33171065
The association between mutation status and TSC manifestations was assessed by the Wilcoxon rank-sum test.Results: Our cohort consisted of 55 TSC women, including 30/55 (55%) with TSC2, 12/55 (22%) with TSC1, and 13/55 (23%) with NMI. Twenty-three women (42%) had character …
The association between mutation status and TSC manifestations was assessed by the Wilcoxon rank-sum test.Results: Our cohort consisted of 5 …
Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference.
Sahin M, Henske EP, Manning BD, Ess KC, Bissler JJ, Klann E, Kwiatkowski DJ, Roberds SL, Silva AJ, Hillaire-Clarke CS, Young LR, Zervas M, Mamounas LA; Tuberous Sclerosis Complex Working Group to Update the Research Plan. Sahin M, et al. Pediatr Neurol. 2016 Jul;60:1-12. doi: 10.1016/j.pediatrneurol.2016.03.015. Epub 2016 Apr 2. Pediatr Neurol. 2016. PMID: 27267556 Free PMC article.
On March 10 to March 12, 2015, the National Institute of Neurological Disorders and Stroke and the Tuberous Sclerosis Alliance sponsored a workshop in Bethesda, Maryland, to assess progress and new opportunities for research in tuberous sclerosis complex with the go …
On March 10 to March 12, 2015, the National Institute of Neurological Disorders and Stroke and the Tuberous Sclerosis Alliance sponso …
Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex.
Levine A, Davis P, Zhang B, Peters J, Filip-Dhima R, Warfield SK, Prohl A, Capal J, Krueger D, Bebin EM, Northrup H, Wu JY, Sahin M; TACERN Study Group. Levine A, et al. Pediatr Neurol. 2023 Jul;144:26-32. doi: 10.1016/j.pediatrneurol.2023.03.015. Epub 2023 Mar 29. Pediatr Neurol. 2023. PMID: 37119787
BACKGROUND: Abnormal brain growth in tuberous sclerosis complex (TSC) reflects abnormalities in cellular proliferation and differentiation and results in epilepsy and other neurological manifestations. Head circumference (HC) as a proxy for brain volum …
BACKGROUND: Abnormal brain growth in tuberous sclerosis complex (TSC) reflects abnormalities in cellular proliferation …
Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.
Zöllner JP, Grau J, Rosenow F, Sauter M, Knuf M, Kurlemann G, Mayer T, Hertzberg C, Bertsche A, Immisch I, Klein KM, Knake S, Marquard K, Meyer S, Noda AH, von Podewils F, Schäfer H, Thiels C, Willems LM, Zukunft B, Schubert-Bast S, Strzelczyk A. Zöllner JP, et al. Orphanet J Rare Dis. 2021 Jun 2;16(1):250. doi: 10.1186/s13023-021-01838-w. Orphanet J Rare Dis. 2021. PMID: 34078440 Free PMC article. Review.
BACKGROUND: Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder characterized by benign growths due to TSC1 or TSC2 mutations. ...METHODS: A validated, three-month, retrospective questionnaire assessed the sociodemographic and clinical characteristics, …
BACKGROUND: Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder characterized by benign growths due to TSC1 or TS …
A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex.
Overwater IE, Rietman AB, Mous SE, Bindels-de Heus K, Rizopoulos D, Ten Hoopen LW, van der Vaart T, Jansen FE, Elgersma Y, Moll HA, de Wit MY; ENCORE Expertise Centre for Neurodevelopmental Disorders. Overwater IE, et al. Neurology. 2019 Jul 9;93(2):e200-e209. doi: 10.1212/WNL.0000000000007749. Epub 2019 Jun 19. Neurology. 2019. PMID: 31217257 Clinical Trial.
OBJECTIVE: To investigate whether mammalian target of rapamycin inhibitor everolimus can improve intellectual disability, autism, and other neuropsychological deficits in children with tuberous sclerosis complex (TSC). METHODS: In this 12-month, randomized, double-b …
OBJECTIVE: To investigate whether mammalian target of rapamycin inhibitor everolimus can improve intellectual disability, autism, and other …
Aspects of autism spectrum disorder and correlation with neuroimaging findings in tuberous sclerosis complex.
Dedeoğlu Ö, Çetinkaya M, Emine Derinkuyu B, Aksoy E, Öztoprak Ü, Genç Sel Ç, Nursun Özcan H, Aksoy A, Yüksel D. Dedeoğlu Ö, et al. Clin Neurol Neurosurg. 2023 Jan;224:107550. doi: 10.1016/j.clineuro.2022.107550. Epub 2022 Nov 30. Clin Neurol Neurosurg. 2023. PMID: 36502649
BACKGROUND: Tuberous sclerosis complex (TSC) patients may have different specific neuropsychological deficits related to the location of the tubers. ...CONCLUSION: The mean of total tuber count and the rate of the location in the prefrontal cortex were determined to be hig …
BACKGROUND: Tuberous sclerosis complex (TSC) patients may have different specific neuropsychological deficits related to the location …
Surgery for tuberous sclerosis complex-related epilepsy: Risk factors for an unfavorable seizure outcome.
d'Orio P, Pelliccia V, Biondi D, Scarpa P, Gozzo F, Revay M, Cardinale F, Tassi L, Cossu M. d'Orio P, et al. Seizure. 2022 Apr;97:8-14. doi: 10.1016/j.seizure.2022.02.013. Epub 2022 Feb 27. Seizure. 2022. PMID: 35247673 Free article.
PURPOSE: This study aimed to identify risk factors of postoperative seizure outcome in a consecutive cohort of patients operated on for TSC-related focal epilepsy, by evaluating several presurgical and surgical variables, including also MRI-visible brain abnormalities …
PURPOSE: This study aimed to identify risk factors of postoperative seizure outcome in a consecutive cohort of patients operated on for TSC- …
Impaired oligodendroglial turnover is associated with myelin pathology in focal cortical dysplasia and tuberous sclerosis complex.
Scholl T, Mühlebner A, Ricken G, Gruber V, Fabing A, Samueli S, Gröppel G, Dorfer C, Czech T, Hainfellner JA, Prabowo AS, Reinten RJ, Hoogendijk L, Anink JJ, Aronica E, Feucht M. Scholl T, et al. Brain Pathol. 2017 Nov;27(6):770-780. doi: 10.1111/bpa.12452. Epub 2017 Feb 9. Brain Pathol. 2017. PMID: 27750396 Free PMC article.
Two epilepsy-associated pathologies show myelin deficiencies in seizure-related brain regions: Focal Cortical Dysplasia IIB (FCD) and cortical tubers in Tuberous Sclerosis Complex (TSC). ...We analyzed epilepsy surgery specimens of FCD IIB (n = …
Two epilepsy-associated pathologies show myelin deficiencies in seizure-related brain regions: Focal Cortical Dysplasia …
Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany.
Willems LM, Schubert-Bast S, Grau J, Hertzberg C, Kurlemann G, Wiemer-Kruel A, Bast T, Bertsche A, Bettendorf U, Fiedler B, Hahn A, Hartmann H, Hornemann F, Immisch I, Jacobs J, Kieslich M, Klein KM, Klotz KA, Kluger G, Knuf M, Mayer T, Marquard K, Meyer S, Muhle H, Müller-Schlüter K, Noda AH, Ruf S, Sauter M, Schlump JU, Syrbe S, Thiels C, Trollmann R, Wilken B, Zöllner JP, Rosenow F, Strzelczyk A. Willems LM, et al. Eur J Paediatr Neurol. 2021 Nov;35:111-122. doi: 10.1016/j.ejpn.2021.10.003. Epub 2021 Oct 7. Eur J Paediatr Neurol. 2021. PMID: 34673401
OBJECTIVE: This study aimed to measure health-related quality of life (HRQOL) in children and adolescents with tuberous sclerosis complex (TSC) and quality of life (QOL) and depressive symptoms among caregivers. ...Predictors for reduced HRQOL and depressive symptoms were …
OBJECTIVE: This study aimed to measure health-related quality of life (HRQOL) in children and adolescents with tuberous sclerosis complex …
Malformations of cortical development (MCDs) and epilepsy: experience from a tertiary care center in south India.
Mathew T, Srikanth SG, Satishchandra P. Mathew T, et al. Seizure. 2010 Apr;19(3):147-52. doi: 10.1016/j.seizure.2010.01.005. Epub 2010 Feb 9. Seizure. 2010. PMID: 20144553 Free article.
INTRODUCTION: Malformations of cortical development (MCDs) are increasingly recognized as important cause of epilepsy, especially refractory epilepsy. ...AIMS: To study various types of malformations of cortical development …
INTRODUCTION: Malformations of cortical development (MCDs) are increasingly recognized as important cause of epi …
35 results