145 related articles for article (PubMed ID: 33578443)
1. TSC1 as a Novel Gene for Sleep-Related Hypermotor Epilepsy: A Child with a Mild Phenotype of Tuberous Sclerosis.
Mastrangelo M; Commone C; Greco C; Leuzzi V
Neuropediatrics; 2021 Apr; 52(2):146-149. PubMed ID: 33578443
[TBL] [Abstract][Full Text] [Related]
2. Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes.
Lin S; Zeng JB; Zhao GX; Yang ZZ; Huang HP; Lin MT; Wu ZY; Wang N; Chen WJ; Fang L
Seizure; 2019 Oct; 71():322-327. PubMed ID: 31525612
[TBL] [Abstract][Full Text] [Related]
3. Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients.
Licchetta L; Pippucci T; Baldassari S; Minardi R; Provini F; Mostacci B; Plazzi G; Tinuper P; Bisulli F;
Seizure; 2020 Jan; 74():60-64. PubMed ID: 31835056
[TBL] [Abstract][Full Text] [Related]
4. Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex.
Zeng LH; Rensing NR; Zhang B; Gutmann DH; Gambello MJ; Wong M
Hum Mol Genet; 2011 Feb; 20(3):445-54. PubMed ID: 21062901
[TBL] [Abstract][Full Text] [Related]
5. First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
Reyna-Fabián ME; Hernández-Martínez NL; Alcántara-Ortigoza MA; Ayala-Sumuano JT; Enríquez-Flores S; Velázquez-Aragón JA; Varela-Echavarría A; Todd-Quiñones CG; González-Del Angel A
Sci Rep; 2020 Apr; 10(1):6589. PubMed ID: 32313033
[TBL] [Abstract][Full Text] [Related]
6. The specificity and role of microglia in epileptogenesis in mouse models of tuberous sclerosis complex.
Zhang B; Zou J; Han L; Beeler B; Friedman JL; Griffin E; Piao YS; Rensing NR; Wong M
Epilepsia; 2018 Sep; 59(9):1796-1806. PubMed ID: 30079598
[TBL] [Abstract][Full Text] [Related]
7. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL; Klonowska K; Kwiatkowski DJ; Sahin M
Annu Rev Genomics Hum Genet; 2019 Aug; 20():217-240. PubMed ID: 31018109
[TBL] [Abstract][Full Text] [Related]
8. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Dabora SL; Jozwiak S; Franz DN; Roberts PS; Nieto A; Chung J; Choy YS; Reeve MP; Thiele E; Egelhoff JC; Kasprzyk-Obara J; Domanska-Pakiela D; Kwiatkowski DJ
Am J Hum Genet; 2001 Jan; 68(1):64-80. PubMed ID: 11112665
[TBL] [Abstract][Full Text] [Related]
9. The potential role of micro-RNA-211 in the pathogenesis of sleep-related hypermotor epilepsy.
Zupcic SG; Zupcic M; Duzel V; Simurina T; Sakic L; Grubjesic I; Tonković D; Udovic IS; Ferreri VM
Med Hypotheses; 2020 Oct; 143():110115. PubMed ID: 32763656
[TBL] [Abstract][Full Text] [Related]
10. [Clinical and genetic study patients with tuberous sclerosis complex].
Rubilar C; López F; Troncoso M; Barrios A; Herrera L
Rev Chil Pediatr; 2017 Feb; 88(1):41-49. PubMed ID: 28288225
[TBL] [Abstract][Full Text] [Related]
11. Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background.
Savini MN; Mingarelli A; Peron A; La Briola F; Cervi F; Alfano RM; Canevini MP; Vignoli A
Ital J Pediatr; 2020 Mar; 46(1):36. PubMed ID: 32216820
[TBL] [Abstract][Full Text] [Related]
12. Upregulation of 6-phosphofructo-2-kinase (PFKFB3) by hyperactivated mammalian target of rapamycin complex 1 is critical for tumor growth in tuberous sclerosis complex.
Wang Y; Tang S; Wu Y; Wan X; Zhou M; Li H; Zha X
IUBMB Life; 2020 May; 72(5):965-977. PubMed ID: 31958214
[TBL] [Abstract][Full Text] [Related]
13. [Genetic analysis of a pedigree affected with tuberous sclerosis complex caused by a novel mutation of TSC1].
Zhang S; Wang Z; Lin R; Zhao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Oct; 36(10):961-964. PubMed ID: 31598936
[TBL] [Abstract][Full Text] [Related]
14. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.
Chan JA; Zhang H; Roberts PS; Jozwiak S; Wieslawa G; Lewin-Kowalik J; Kotulska K; Kwiatkowski DJ
J Neuropathol Exp Neurol; 2004 Dec; 63(12):1236-42. PubMed ID: 15624760
[TBL] [Abstract][Full Text] [Related]
15. Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.
Avgeris S; Fostira F; Vagena A; Ninios Y; Delimitsou A; Vodicka R; Vrtel R; Youroukos S; Stravopodis DJ; Vlassi M; Astrinidis A; Yannoukakos D; Voutsinas GE
Sci Rep; 2017 Dec; 7(1):16697. PubMed ID: 29196670
[TBL] [Abstract][Full Text] [Related]
16. A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits.
Feliciano DM; Lin TV; Hartman NW; Bartley CM; Kubera C; Hsieh L; Lafourcade C; O'Keefe RA; Bordey A
Int J Dev Neurosci; 2013 Nov; 31(7):667-78. PubMed ID: 23485365
[TBL] [Abstract][Full Text] [Related]
17. Ganglioglioma, Epilepsy, and Intellectual Impairment due to Familial TSC1 Deletion.
Gilboa T; Segel R; Zeligson S; Alterescu G; Ben-Pazi H
J Child Neurol; 2018 Jun; 33(7):482-486. PubMed ID: 29687738
[TBL] [Abstract][Full Text] [Related]
18. Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy.
Curatolo P
Pediatr Neurol; 2015 Mar; 52(3):281-9. PubMed ID: 25591831
[TBL] [Abstract][Full Text] [Related]
19. Tuberous sclerosis as an underlying basis for infantile spasm.
Yeung RS
Int Rev Neurobiol; 2002; 49():315-32. PubMed ID: 12040899
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]