BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 32712428)

  • 1. The role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome.
    Takahashi S; Tanaka R; Takeguchi R; Kuroda M; Akaba Y; Ito Y
    J Neurol Sci; 2020 Sep; 416():117041. PubMed ID: 32712428
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Sporadic and familial glut1ds Italian patients: A wide clinical variability.
    De Giorgis V; Teutonico F; Cereda C; Balottin U; Bianchi M; Giordano L; Olivotto S; Ragona F; Tagliabue A; Zorzi G; Nardocci N; Veggiotti P
    Seizure; 2015 Jan; 24():28-32. PubMed ID: 25564316
    [TBL] [Abstract][Full Text] [Related]  

  • 3. From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
    Hully M; Vuillaumier-Barrot S; Le Bizec C; Boddaert N; Kaminska A; Lascelles K; de Lonlay P; Cances C; des Portes V; Roubertie A; Doummar D; LeBihannic A; Degos B; de Saint Martin A; Flori E; Pedespan JM; Goldenberg A; Vanhulle C; Bekri S; Roubergue A; Heron B; Cournelle MA; Kuster A; Chenouard A; Loiseau MN; Valayannopoulos V; Chemaly N; Gitiaux C; Seta N; Bahi-Buisson N
    Eur J Med Genet; 2015 Sep; 58(9):443-54. PubMed ID: 26193382
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
    Sánchez-Lijarcio O; Yubero D; Leal F; Couce ML; González Gutiérrez-Solana L; López-Laso E; García-Cazorla À; Pías-Peleteiro L; de Azua Brea B; Ibáñez-Micó S; Mateo-Martínez G; Troncoso-Schifferli M; Witting-Enriquez S; Ugarte M; Artuch R; Pérez B
    Clin Genet; 2022 Jul; 102(1):40-55. PubMed ID: 35388452
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.
    Diomedi M; Gan-Or Z; Placidi F; Dion PA; Szuto A; Bengala M; Rouleau GA; Gigli GL
    Eur J Med Genet; 2016 Nov; 59(11):564-568. PubMed ID: 27725288
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome.
    Bourque DK; Cordeiro D; Nimmo GAM; Kobayashi J; Mercimek-Andrews S
    Can J Neurol Sci; 2021 Nov; 48(6):826-830. PubMed ID: 33431108
    [TBL] [Abstract][Full Text] [Related]  

  • 8. GLUT1 deficiency syndrome 2013: current state of the art.
    De Giorgis V; Veggiotti P
    Seizure; 2013 Dec; 22(10):803-11. PubMed ID: 23890838
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.
    Willemsen MA; Vissers LE; Verbeek MM; van Bon BW; Geuer S; Gilissen C; Klepper J; Kwint MP; Leen WG; Pennings M; Wevers RA; Veltman JA; Kamsteeg EJ
    Eur J Hum Genet; 2017 Jun; 25(6):771-774. PubMed ID: 28378819
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Developmental outcomes and prevalence of SLC2A1 variants in young infants with hypoglycorrhachia.
    Yu WH; Chen LW; Wang ST; Tu YF; Huang CC
    Brain Dev; 2019 Nov; 41(10):854-861. PubMed ID: 31326153
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.
    Jiménez Legido M; Cortés Ledesma C; Bernardino Cuesta B; López Marín L; Cantarín Extremera V; Pérez-Cerdá C; Pérez González B; López Martín E; González Gutiérrez-Solana L
    Neurologia (Engl Ed); 2022 Mar; 37(2):91-100. PubMed ID: 35279228
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
    Leen WG; Klepper J; Verbeek MM; Leferink M; Hofste T; van Engelen BG; Wevers RA; Arthur T; Bahi-Buisson N; Ballhausen D; Bekhof J; van Bogaert P; Carrilho I; Chabrol B; Champion MP; Coldwell J; Clayton P; Donner E; Evangeliou A; Ebinger F; Farrell K; Forsyth RJ; de Goede CG; Gross S; Grunewald S; Holthausen H; Jayawant S; Lachlan K; Laugel V; Leppig K; Lim MJ; Mancini G; Marina AD; Martorell L; McMenamin J; Meuwissen ME; Mundy H; Nilsson NO; Panzer A; Poll-The BT; Rauscher C; Rouselle CM; Sandvig I; Scheffner T; Sheridan E; Simpson N; Sykora P; Tomlinson R; Trounce J; Webb D; Weschke B; Scheffer H; Willemsen MA
    Brain; 2010 Mar; 133(Pt 3):655-70. PubMed ID: 20129935
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Milder phenotypes of glucose transporter type 1 deficiency syndrome.
    Anand G; Padeniya A; Hanrahan D; Scheffer H; Zaiwalla Z; Cox D; Mann N; Hewertson J; Price S; Nemeth A; Arsov T; Scheffer I; Jayawant S; Pike M; McShane T
    Dev Med Child Neurol; 2011 Jul; 53(7):664-8. PubMed ID: 21649651
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases.
    Ruiz Herrero J; Cañedo Villarroya E; González Gutiérrez-Solana L; García Alcolea B; Gómez Fernández B; Puerta Macfarland LA; Pedrón-Giner C
    Nutrients; 2021 Mar; 13(3):. PubMed ID: 33806661
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Glucose transporter type 1 deficiency syndrome: clinical aspects, diagnosis, and treatment.
    Veneruzzo GM; Loos MA; Armeno M; Alonso CN; Caraballo RH
    Arch Argent Pediatr; 2023 Feb; 121(1):e202202677. PubMed ID: 36315575
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis.
    Mauri A; Duse A; Palm G; Previtali R; Bova SM; Olivotto S; Benedetti S; Coscia F; Veggiotti P; Cereda C
    Int J Mol Sci; 2022 Nov; 23(21):. PubMed ID: 36362347
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Clinical and genetic characteristics of glucose transporter type 1 deficiency syndrome].
    Liu YY; Bao XH; Wang S; Fu N; Liu XY; Song FY; Yang YL; Wu Y; Zhang YH; Wu JX; Jiang YW; Qin J; Wu XR
    Zhonghua Er Ke Za Zhi; 2013 Jun; 51(6):443-7. PubMed ID: 24120063
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Evaluation of non-coding variation in GLUT1 deficiency.
    Liu YC; Lee JW; Bellows ST; Damiano JA; Mullen SA; Berkovic SF; Bahlo M; Scheffer IE; Hildebrand MS;
    Dev Med Child Neurol; 2016 Dec; 58(12):1295-1302. PubMed ID: 27265003
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.