These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

292 related articles for article (PubMed ID: 32025761)

  • 41. GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype.
    Ramm-Pettersen A; Nakken KO; Haavardsholm KC; Selmer KK
    Epilepsy Behav; 2017 May; 70(Pt A):1-4. PubMed ID: 28407523
    [TBL] [Abstract][Full Text] [Related]  

  • 42. GLUT1 deficiency syndrome in clinical practice.
    Klepper J
    Epilepsy Res; 2012 Jul; 100(3):272-7. PubMed ID: 21382692
    [TBL] [Abstract][Full Text] [Related]  

  • 43. GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging.
    Ismayilova N; Hacohen Y; MacKinnon AD; Elmslie F; Clarke A
    Eur J Paediatr Neurol; 2018 Nov; 22(6):1161-1164. PubMed ID: 30115503
    [TBL] [Abstract][Full Text] [Related]  

  • 44. GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases?
    Klepper J
    Dev Med Child Neurol; 2015 Oct; 57(10):896-7. PubMed ID: 25997718
    [No Abstract]   [Full Text] [Related]  

  • 45. PKCs Sweeten Cell Metabolism by Phosphorylation of Glut1.
    Siska PJ; Rathmell JC
    Mol Cell; 2015 Jun; 58(5):711-2. PubMed ID: 26046643
    [TBL] [Abstract][Full Text] [Related]  

  • 46. The many faces of Glut1 deficiency syndrome.
    Tzadok M; Nissenkorn A; Porper K; Matot I; Marcu S; Anikster Y; Menascu S; Bercovich D; Ben Zeev B
    J Child Neurol; 2014 Mar; 29(3):349-59. PubMed ID: 23340081
    [TBL] [Abstract][Full Text] [Related]  

  • 47. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
    Larsen J; Johannesen KM; Ek J; Tang S; Marini C; Blichfeldt S; Kibaek M; von Spiczak S; Weckhuysen S; Frangu M; Neubauer BA; Uldall P; Striano P; Zara F; ; Kleiss R; Simpson M; Muhle H; Nikanorova M; Jepsen B; Tommerup N; Stephani U; Guerrini R; Duno M; Hjalgrim H; Pal D; Helbig I; Møller RS
    Epilepsia; 2015 Dec; 56(12):e203-8. PubMed ID: 26537434
    [TBL] [Abstract][Full Text] [Related]  

  • 48. A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C.
    Çolak R; Alkan Özdemir S; Yangın Ergon E; Kağnıcı M; Çalkavur Ş
    Balkan Med J; 2017 Dec; 34(6):580-583. PubMed ID: 28443597
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
    Arsov T; Mullen SA; Rogers S; Phillips AM; Lawrence KM; Damiano JA; Goldberg-Stern H; Afawi Z; Kivity S; Trager C; Petrou S; Berkovic SF; Scheffer IE
    Ann Neurol; 2012 Nov; 72(5):807-15. PubMed ID: 23280796
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Implications of aberrant temperature-sensitive glucose transport via the glucose transporter deficiency mutant (GLUT1DS) T295M for the alternate-access and fixed-site transport models.
    Cunningham P; Naftalin RJ
    J Membr Biol; 2013 Jun; 246(6):495-511. PubMed ID: 23740044
    [TBL] [Abstract][Full Text] [Related]  

  • 51. 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]  

  • 52. Model of the exofacial substrate-binding site and helical folding of the human Glut1 glucose transporter based on scanning mutagenesis.
    Mueckler M; Makepeace C
    Biochemistry; 2009 Jun; 48(25):5934-42. PubMed ID: 19449892
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Case for supporting astrocyte energetics in glucose transporter 1 deficiency syndrome.
    Xu W; Borges K
    Epilepsia; 2024 Aug; 65(8):2213-2226. PubMed ID: 38767952
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.
    Vieker S; Schmitt J; Längler A; Schmidt W; Klepper J
    Neuropediatrics; 2012 Oct; 43(5):275-8. PubMed ID: 22976442
    [TBL] [Abstract][Full Text] [Related]  

  • 55. A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?
    Mayorga L; Gamboni B; Mampel A; Roqué M
    Mol Genet Metab; 2018 Mar; 123(3):331-336. PubMed ID: 29307761
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia.
    Sen S; Keough K; Gibson J
    Neurology; 2015 Apr; 84(15):e111-4. PubMed ID: 25870456
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan.
    Ito Y; Gertsen E; Oguni H; Nakayama T; Matsuo M; Funatsuka M; Voit T; Klepper J; Osawa M
    Brain Dev; 2005 Jun; 27(4):311-7. PubMed ID: 15862198
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Autosomal dominant transmission of GLUT1 deficiency.
    Klepper J; Willemsen M; Verrips A; Guertsen E; Herrmann R; Kutzick C; Flörcken A; Voit T
    Hum Mol Genet; 2001 Jan; 10(1):63-8. PubMed ID: 11136715
    [TBL] [Abstract][Full Text] [Related]  

  • 59. A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
    Gras D; Cousin C; Kappeler C; Fung CW; Auvin S; Essid N; Chung BH; Da Costa L; Hainque E; Luton MP; Petit V; Vuillaumier-Barrot S; Boespflug-Tanguy O; Roze E; Mochel F
    Ann Neurol; 2017 Jul; 82(1):133-138. PubMed ID: 28556183
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Inhibitor Discovery for the Human GLUT1 from Homology Modeling and Virtual Screening.
    Ung PM; Song W; Cheng L; Zhao X; Hu H; Chen L; Schlessinger A
    ACS Chem Biol; 2016 Jul; 11(7):1908-16. PubMed ID: 27128978
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.