共 50 条
- [31] Developing a Pipeline for Personalized Diagnoses of Glut1 Deficiency SyndromeFASEB JOURNAL, 2022, 36Griffith, Laiken论文数: 0 引用数: 0 h-index: 0机构: University of Kentucky College of Medicine, KY, LexingtonDonohue, Katherine论文数: 0 引用数: 0 h-index: 0机构: University of Kentucky College of Medicine, KY, LexingtonAbul-Khoudoud, Maya论文数: 0 引用数: 0 h-index: 0机构: University of Kentucky College of Medicine, KY, LexingtonGentry, Matthew论文数: 0 引用数: 0 h-index: 0机构: University of Kentucky College of Medicine, KY, Lexington
- [32] Morphometric patterns in patients with GLUT1 transporter deficiency syndromeEPILEPSIA, 2024, 65 : 341 - 341Scolastico, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, Italy Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, ItalyTondelli, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, Italy Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, ItalyBallerini, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, Italy Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, ItalyTalami, F.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Council Italy, Parma, Italy Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, ItalyGiovannini, G.论文数: 0 引用数: 0 h-index: 0机构: AOU Modena, OCB Hosp, Neurol Unit, Modena, Italy Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, ItalyOlivotto, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, V Buzzi Hosp, Pediat Neurol Unit, Miano, Italy Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, ItalyDe Giorgis, V.论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Dept Child Neurol & Psychiat, Mondino Fdn, Pavia, Italy Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, ItalyParmeggiani, A.论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Ist Sci Neurol, Bologna, Italy UOC Neuropsichiatria Eta Pediatr, Bologna, Italy Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, Italy论文数: 引用数: h-index:机构:Meletti, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, Italy AOU Modena, OCB Hosp, Neurol Unit, Modena, Italy Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, ItalyVaudano, A. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, Italy AOU Modena, OCB Hosp, Neurol Unit, Modena, Italy Univ Modena & Reggio Emilia, Dept Biomed, Metab & Neural Sci, Modena, Italy
- [33] Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pairMOLECULAR CYTOGENETICS, 2010, 3Aktas, Dilek论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Sch Med, Dept Genet, Ankara, Turkey Hacettepe Univ, Sch Med, Dept Genet, Ankara, TurkeyUtine, Eda G.论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Sch Med, Dept Genet, Ankara, Turkey Hacettepe Univ, Sch Med, Dept Genet, Ankara, TurkeyMrasek, Kristin论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Inst Human Genet, Jena, Germany Hacettepe Univ, Sch Med, Dept Genet, Ankara, TurkeyWeise, Anja论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Inst Human Genet, Jena, Germany Hacettepe Univ, Sch Med, Dept Genet, Ankara, Turkeyvon Eggeling, Ferdinand论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Inst Human Genet, Jena, Germany Hacettepe Univ, Sch Med, Dept Genet, Ankara, TurkeyYalaz, Kalbiye论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Sch Med, Dept Pediat Neurol, Ankara, Turkey Hacettepe Univ, Sch Med, Dept Genet, Ankara, TurkeyPosorski, Nicole论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Inst Human Genet, Jena, Germany Hacettepe Univ, Sch Med, Dept Genet, Ankara, TurkeyAkarsu, Nurten论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Sch Med, Dept Genet, Ankara, Turkey Hacettepe Univ, Sch Med, Dept Genet, Ankara, TurkeyAlikasifoglu, Mehmet论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Sch Med, Dept Genet, Ankara, Turkey Hacettepe Univ, Sch Med, Dept Genet, Ankara, TurkeyLiehr, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Inst Human Genet, Jena, Germany Hacettepe Univ, Sch Med, Dept Genet, Ankara, TurkeyTuncbilek, Ergul论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Sch Med, Dept Genet, Ankara, Turkey Hacettepe Univ, Sch Med, Dept Genet, Ankara, Turkey
- [34] Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pairMolecular Cytogenetics, 3Dilek Aktas论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University School of Medicine,Department of GeneticsEda G Utine论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University School of Medicine,Department of GeneticsKristin Mrasek论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University School of Medicine,Department of GeneticsAnja Weise论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University School of Medicine,Department of GeneticsFerdinand von Eggeling论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University School of Medicine,Department of GeneticsKalbiye Yalaz论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University School of Medicine,Department of GeneticsNicole Posorski论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University School of Medicine,Department of GeneticsNurten Akarsu论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University School of Medicine,Department of GeneticsMehmet Alikasifoglu论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University School of Medicine,Department of GeneticsThomas Liehr论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University School of Medicine,Department of GeneticsErgul Tuncbilek论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University School of Medicine,Department of Genetics
- [35] An early endothelial cell-specific requirement for Glut1 is revealed in Glut1 deficiency syndrome model miceJCI INSIGHT, 2021, 6 (03)Tang, Maoxue论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USA Columbia Univ, Ctr Motor Neuron Biol & Dis, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USAPark, Sarah H.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USA Columbia Univ, Ctr Motor Neuron Biol & Dis, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USAPetri, Sabrina论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Genet & Dev, New York, NY USA Columbia Univ, Inst Genom Med, New York, NY USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USAYu, Hang论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Mortimer B Zuckerman Mind Brain Behav Inst, Dept Biomed Engn, New York, NY USA Columbia Univ, Mortimer B Zuckerman Mind Brain Behav Inst, Dept Radiol, New York, NY USA Columbia Univ, Kavli Inst Brain Sci, New York, NY USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USARueda, Carlos B.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USA Columbia Univ, Ctr Motor Neuron Biol & Dis, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USAAbel, E. Dale论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Fraternal Order Eagles Diabet Res Ctr, Iowa City, IA USA Univ Iowa, Carver Coll Med, Div Endocrinol & Metab, Iowa City, IA USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USAKim, Carla Y.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Mortimer B Zuckerman Mind Brain Behav Inst, Dept Biomed Engn, New York, NY USA Columbia Univ, Mortimer B Zuckerman Mind Brain Behav Inst, Dept Radiol, New York, NY USA Columbia Univ, Kavli Inst Brain Sci, New York, NY USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USAHillman, Elizabeth M. C.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Mortimer B Zuckerman Mind Brain Behav Inst, Dept Biomed Engn, New York, NY USA Columbia Univ, Mortimer B Zuckerman Mind Brain Behav Inst, Dept Radiol, New York, NY USA Columbia Univ, Kavli Inst Brain Sci, New York, NY USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USALi, Fanghua论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USA Columbia Univ, Ctr Motor Neuron Biol & Dis, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USALee, Yeojin论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Columbia Stem Cell Initiat, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Microbiol & Immunol, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USADing, Lei论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Columbia Stem Cell Initiat, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Microbiol & Immunol, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USAJagadish, Smitha论文数: 0 引用数: 0 h-index: 0机构: Sanofi Genzyme, Rare & Neurol Dis Res, Framingham, MA USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USAFrankel, Wayne N.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Genet & Dev, New York, NY USA Columbia Univ, Inst Genom Med, New York, NY USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USADe Vivo, Darryl C.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USA Columbia Univ, Ctr Motor Neuron Biol & Dis, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USAMonani, Umrao R.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USA Columbia Univ, Ctr Motor Neuron Biol & Dis, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Pathol & Cell Biol, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USA
- [36] A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency SyndromeMOLECULAR CELL, 2015, 58 (05) : 845 - 853Lee, Eunice E.论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USA UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USAMa, Jing论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USA UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USASacharidou, Anastasia论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dept Pediat, Dallas, TX 75390 USA UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USAMi, Wentao论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dept Neurol & Neurotherapeut, Dallas, TX 75390 USA UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USASalato, Valerie K.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pathol, Milwaukee, WI 53226 USA UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USANam Nguyen论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dept Physiol, Dallas, TX 75390 USA UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USAJiang, Youxing论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dept Physiol, Dallas, TX 75390 USA UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USAPascual, Juan M.论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dept Pediat, Dallas, TX 75390 USA UT Southwestern Med Ctr, Dept Neurol & Neurotherapeut, Dallas, TX 75390 USA UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USANorth, Paula E.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pathol, Milwaukee, WI 53226 USA UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USAShaul, Philip W.论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dept Pediat, Dallas, TX 75390 USA UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USAMettlen, Marcel论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dept Cell Biol, Dallas, TX 75390 USA UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USAWang, Richard C.论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USA UT Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USA
- [37] Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndromeHUMAN MUTATION, 2000, 16 (03) : 224 - 231Wang, D论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Neurol Inst, Colleen Giblin Labs Pediat Neurol Res, New York, NY 10032 USA Columbia Univ, Neurol Inst, Colleen Giblin Labs Pediat Neurol Res, New York, NY 10032 USAKranz-Eble, P论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Neurol Inst, Colleen Giblin Labs Pediat Neurol Res, New York, NY 10032 USA Columbia Univ, Neurol Inst, Colleen Giblin Labs Pediat Neurol Res, New York, NY 10032 USADe Vivo, DC论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Neurol Inst, Colleen Giblin Labs Pediat Neurol Res, New York, NY 10032 USA Columbia Univ, Neurol Inst, Colleen Giblin Labs Pediat Neurol Res, New York, NY 10032 USA
- [38] PHENOTYPIC VARIABILITY IN PATIENTS WITH GLUT1 MUTATIONSEPILEPSIA, 2009, 50 : 127 - 128Weber, Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, D-89069 Ulm, Germany Univ Ulm, D-89069 Ulm, GermanyKamm, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, D-72074 Tubingen, Germany Univ Ulm, D-89069 Ulm, GermanySuls, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Antwerp, Belgium Univ Ulm, D-89069 Ulm, GermanyKempfle, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, D-89069 Ulm, Germany Univ Ulm, D-89069 Ulm, GermanyWuttke, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, D-89069 Ulm, GermanySalov-Vargas, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, D-89069 Ulm, Germany Univ Ulm, D-89069 Ulm, GermanyBellan-Koch, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, D-89069 Ulm, Germany Univ Ulm, D-89069 Ulm, GermanyMaljevic, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, D-89069 Ulm, Germany Univ Ulm, D-89069 Ulm, GermanyGasser, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, D-72074 Tubingen, Germany Univ Ulm, D-89069 Ulm, GermanyDeJonghe, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Antwerp, Belgium Univ Ulm, D-89069 Ulm, GermanyAuburger, G.论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, D-6000 Frankfurt, Germany Univ Ulm, D-89069 Ulm, GermanyLerche, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, D-89069 Ulm, Germany Univ Ulm, D-89069 Ulm, Germany
- [39] Paroxysmal ocular movements – an early sign in Glut1 deficiency SyndromeMetabolic Brain Disease, 2018, 33 : 1381 - 1383Sofia Reis论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Tondela-Viseu,Serviço de PediatriaJoana Matias论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Tondela-Viseu,Serviço de PediatriaRaquel Machado论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Tondela-Viseu,Serviço de PediatriaJosé Paulo Monteiro论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Tondela-Viseu,Serviço de Pediatria
- [40] ELUCIDATION OF THE INVOLVEMENT OF ASTROCYTE FUNCTION IN THE PATHOGENESIS OF GLUT1 DEFICIENCY SYNDROMEINTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY, 2025, 28 : i347 - i348Hirai, Shinobu论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Inst Med Sci TMiMS, Tokyo, Japan Tokyo Metropolitan Inst Med Sci TMiMS, Tokyo, JapanTamura, Shoko论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Inst Med Sci TMiMS, Tokyo, Japan Tokyo Metropolitan Inst Med Sci TMiMS, Tokyo, JapanShimbo, Hiroko论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Inst Med Sci TMiMS, Tokyo, Japan Tokyo Metropolitan Inst Med Sci TMiMS, Tokyo, JapanPark, Jonghyuk论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Inst Med Sci TMiMS, Tokyo, Japan Tokyo Metropolitan Inst Med Sci TMiMS, Tokyo, JapanOkado, Haruo论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Inst Med Sci TMiMS, Tokyo, Japan Tokyo Metropolitan Inst Med Sci TMiMS, Tokyo, Japan