195 related articles for article (PubMed ID: 33351789)
1. An early endothelial cell-specific requirement for Glut1 is revealed in Glut1 deficiency syndrome model mice.
Tang M; Park SH; Petri S; Yu H; Rueda CB; Abel ED; Kim CY; Hillman EM; Li F; Lee Y; Ding L; Jagadish S; Frankel WN; De Vivo DC; Monani UR
JCI Insight; 2021 Feb; 6(3):. PubMed ID: 33351789
[TBL] [Abstract][Full Text] [Related]
2. Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.
Tang M; Gao G; Rueda CB; Yu H; Thibodeaux DN; Awano T; Engelstad KM; Sanchez-Quintero MJ; Yang H; Li F; Li H; Su Q; Shetler KE; Jones L; Seo R; McConathy J; Hillman EM; Noebels JL; De Vivo DC; Monani UR
Nat Commun; 2017 Jan; 8():14152. PubMed ID: 28106060
[TBL] [Abstract][Full Text] [Related]
3. Therapeutic strategies for glucose transporter 1 deficiency syndrome.
Tang M; Park SH; De Vivo DC; Monani UR
Ann Clin Transl Neurol; 2019 Sep; 6(9):1923-1932. PubMed ID: 31464092
[TBL] [Abstract][Full Text] [Related]
4. Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations.
Dozières-Puyravel B; Zaman S; Petrou S; François L; Vuillaumier-Barrot S; Mochel F; Gras D; Auvin S
Brain Dev; 2019 Oct; 41(9):808-811. PubMed ID: 31196579
[TBL] [Abstract][Full Text] [Related]
5. A new mouse model of GLUT1 deficiency syndrome exhibits abnormal sleep-wake patterns and alterations of glucose kinetics in the brain.
Furuse T; Mizuma H; Hirose Y; Kushida T; Yamada I; Miura I; Masuya H; Funato H; Yanagisawa M; Onoe H; Wakana S
Dis Model Mech; 2019 Sep; 12(9):. PubMed ID: 31399478
[TBL] [Abstract][Full Text] [Related]
6. Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome.
Ivanova N; Peycheva V; Kamenarova K; Kancheva D; Tsekova I; Aleksandrova I; Hristova D; Litvinenko I; Todorova D; Sarailieva G; Dimova P; Tomov V; Bozhinova V; Mitev V; Kaneva R; Jordanova A
Seizure; 2018 Jan; 54():41-44. PubMed ID: 29223885
[TBL] [Abstract][Full Text] [Related]
7. Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome.
Raja M; Kinne RKH
J Membr Biol; 2020 Apr; 253(2):87-99. PubMed ID: 32025761
[TBL] [Abstract][Full Text] [Related]
8. [Glucose transporter-1 deficiency syndrome can cause various clinical symptoms].
Larsen J; Stubbings V; Møller RS; Hjalgrim H
Ugeskr Laeger; 2013 Dec; 175(50A):V04130248. PubMed ID: 25353328
[TBL] [Abstract][Full Text] [Related]
9. Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency.
Akman CI; Provenzano F; Wang D; Engelstad K; Hinton V; Yu J; Tikofsky R; Ichese M; De Vivo DC
Epilepsy Res; 2015 Feb; 110():206-15. PubMed ID: 25616474
[TBL] [Abstract][Full Text] [Related]
10. An in vitro model of glucose transporter 1 deficiency syndrome at the blood-brain barrier using induced pluripotent stem cells.
Pervaiz I; Zahra FT; Mikelis CM; Al-Ahmad AJ
J Neurochem; 2022 Sep; 162(6):483-500. PubMed ID: 35943296
[TBL] [Abstract][Full Text] [Related]
11. Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome.
Klepper J
Neuropediatrics; 2013 Aug; 44(4):235-6. PubMed ID: 23483445
[TBL] [Abstract][Full Text] [Related]
12. Jeavons syndrome in a family with GLUT1-deficiency syndrome.
Madaan P; Jauhari P; Chakrabarty B; Gulati S
Seizure; 2019 Oct; 71():158-160. PubMed ID: 31352161
[No Abstract] [Full Text] [Related]
13. Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.
Castellotti B; Ragona F; Freri E; Solazzi R; Ciardullo S; Tricomi G; Venerando A; Salis B; Canafoglia L; Villani F; Franceschetti S; Nardocci N; Gellera C; DiFrancesco JC; Granata T
J Neurol; 2019 Jun; 266(6):1439-1448. PubMed ID: 30895386
[TBL] [Abstract][Full Text] [Related]
14. Erythroid glucose transport in health and disease.
Guizouarn H; Allegrini B
Pflugers Arch; 2020 Sep; 472(9):1371-1383. PubMed ID: 32474749
[TBL] [Abstract][Full Text] [Related]
15. Novel mutation in a patient with late onset GLUT1 deficiency syndrome.
Juozapaite S; Praninskiene R; Burnyte B; Ambrozaityte L; Skerliene B
Brain Dev; 2017 Apr; 39(4):352-355. PubMed ID: 27927575
[TBL] [Abstract][Full Text] [Related]
16. Glut1 deficiency (G1D): epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype.
Marin-Valencia I; Good LB; Ma Q; Duarte J; Bottiglieri T; Sinton CM; Heilig CW; Pascual JM
Neurobiol Dis; 2012 Oct; 48(1):92-101. PubMed ID: 22683290
[TBL] [Abstract][Full Text] [Related]
17. A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.
Lee EE; Ma J; Sacharidou A; Mi W; Salato VK; Nguyen N; Jiang Y; Pascual JM; North PE; Shaul PW; Mettlen M; Wang RC
Mol Cell; 2015 Jun; 58(5):845-53. PubMed ID: 25982116
[TBL] [Abstract][Full Text] [Related]
18. Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome.
Natsume J; Ishihara N; Azuma Y; Nakata T; Takeuchi T; Tanaka M; Sakaguchi Y; Okai Y; Ito Y; Yamamoto H; Ohno A; Kidokoro H; Hattori A; Nabatame S; Kato K
Brain Dev; 2021 Jan; 43(1):69-77. PubMed ID: 32739099
[TBL] [Abstract][Full Text] [Related]
19. Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet.
Ramm-Pettersen A; Nakken KO; Haavardsholm KC; Selmer KK
Epilepsy Behav; 2014 Mar; 32():76-8. PubMed ID: 24508593
[TBL] [Abstract][Full Text] [Related]
20. Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.
Takahashi S; Matsufuji M; Yonee C; Tsuru H; Sano N; Oguni H
Clin Genet; 2017 Jun; 91(6):932-933. PubMed ID: 28124377
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
