共 50 条
- [1] The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1CLINICAL GENETICS, 2022, 102 (01) : 40 - 55Sanchez-Lijarcio, Obdulia论文数: 0 引用数: 0 h-index: 0机构: Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, Spain Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, SpainYubero, Delia论文数: 0 引用数: 0 h-index: 0机构: CIBERER, St Joan de Deu Res Inst, Barcelona, Spain Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, SpainLeal, Fatima论文数: 0 引用数: 0 h-index: 0机构: Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, Spain Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, Spain论文数: 引用数: h-index:机构:Gonzalez Gutierrez-Solana, Luis论文数: 0 引用数: 0 h-index: 0机构: Nino Jesus Clin Univ Hosp, Neuropediat Unit, CIBERER, Madrid, Spain Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, SpainLopez-Laso, Eduardo论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Reina Sofia, Paediat Neurol Unit, Dept Paediat, Maimonides Inst Biomed Invest Cordoba IMIBIC, Cordoba, Spain CIBERER, Cordoba, Spain Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, SpainGarcia-Cazorla, Angels论文数: 0 引用数: 0 h-index: 0机构: CIBERER, St Joan de Deu Res Inst, Barcelona, Spain Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, SpainPias-Peleteiro, Leticia论文数: 0 引用数: 0 h-index: 0机构: CIBERER, St Joan de Deu Res Inst, Barcelona, Spain Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, Spainde Azua Brea, Begona论文数: 0 引用数: 0 h-index: 0机构: Son Llatzer Hosp, Dept Pediat, Mallorca, Spain Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, SpainIbanez-Mico, Salvador论文数: 0 引用数: 0 h-index: 0机构: Virgen de la Arrixaca Univ Hosp, Dept Pediat, Neuropaediat Unit, Murcia, Spain Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, SpainMateo-Martinez, Gonzalo论文数: 0 引用数: 0 h-index: 0机构: Guadalajara Clin Univ Hosp, Neuropediat Unit, Guadalajara, Spain Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, SpainTroncoso-Schifferli, Monica论文数: 0 引用数: 0 h-index: 0机构: Univ Chile, Clin Hosp San Borja Arriaran, Child Neurol Serv, Santiago, Chile Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, SpainWitting-Enriquez, Scarlet论文数: 0 引用数: 0 h-index: 0机构: Univ Chile, Clin Hosp San Borja Arriaran, Child Neurol Serv, Santiago, Chile Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, SpainUgarte, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, Spain Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, SpainArtuch, Rafael论文数: 0 引用数: 0 h-index: 0机构: CIBERER, St Joan de Deu Res Inst, Barcelona, Spain Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, SpainPerez, Belen论文数: 0 引用数: 0 h-index: 0机构: Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, Spain Autonomous Univ Madrid, Ctr Diagnost Enfermedades Mol, Ctr Mol Biol Severo Ochoa CBMSO, CIBERER,IdiPAZ, Madrid, Spain
- [2] GLUT1DS focus on dysarthriaEUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2024, 51 : 62 - 70Corradini, Miriam论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, Italy IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, ItalyZanaboni, Martina Paola论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, Italy EpiCARE, European Reference Network Rare & Complex Epilepsi, Rome, Italy IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, Italy论文数: 引用数: h-index:机构:Celario, Massimiliano论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, ItalyCapelli, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, ItalyGiudice, Carla论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy IRCCS Mondino Fdn, Headache Sci & Neurorehabil Ctr, Pavia, Italy IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, ItalyQuaranta, Carlo Alberto论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, ItalyMensi, Martina Maria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, ItalyPasca, Ludovica论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy EpiCARE, European Reference Network Rare & Complex Epilepsi, Rome, Italy IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, Italy论文数: 引用数: h-index:机构:
- [3] First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 geneBRAIN & DEVELOPMENT, 2011, 33 (02): : 170 - 173Fung, Eva Lai-wah论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Dept Paediat, Hong Kong, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Paediat, Hong Kong, Hong Kong, Peoples R ChinaHo, Yuan Yuan论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Genet Complex Disorders Training Program, Div Stat Genet, Dept Biostat, New York, NY USA Columbia Univ, Inst Human Nutr, New York, NY 10032 USA Chinese Univ Hong Kong, Dept Biochem, Hong Kong, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Paediat, Hong Kong, Hong Kong, Peoples R ChinaHui, Joannie论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Dept Paediat, Hong Kong, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Paediat, Hong Kong, Hong Kong, Peoples R ChinaWong, Jack Ho论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Sch Biomed Sci, Hong Kong, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Paediat, Hong Kong, Hong Kong, Peoples R ChinaNg, Tzi-Bun论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Sch Biomed Sci, Hong Kong, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Paediat, Hong Kong, Hong Kong, Peoples R ChinaFong, Nga-Yin Fion论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Sch Biomed Sci, Hong Kong, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Paediat, Hong Kong, Hong Kong, Peoples R ChinaKlepper, Joerg论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Paediat & Paediat Neurol, Aschaffenburg, Germany Chinese Univ Hong Kong, Dept Paediat, Hong Kong, Hong Kong, Peoples R ChinaTsui, Kwok-Wing Stephen论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Sch Biomed Sci, Hong Kong, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Paediat, Hong Kong, Hong Kong, Peoples R China
- [4] Absence of SLC2A1 Mutations Does Not Exclude Glut1 Deficiency SyndromeNEUROPEDIATRICS, 2013, 44 (04) : 235 - 236Klepper, Joerg论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Aschaffenburg, Dept Pediat & Neuropediat, D-63739 Aschaffenburg, Germany Childrens Hosp Aschaffenburg, Dept Pediat & Neuropediat, D-63739 Aschaffenburg, Germany
- [5] Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study groupEPILEPSIA OPEN, 2020, 5 (03) : 354 - 365Klepper, Joerg论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, Germany Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyAkman, Cigdem论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol & Pediat, Vagelos Coll Phys & Surg, New York, NY USA Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyArmeno, Marisa论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat JP Garrahan, Dept Nutr, Buenos Aires, DF, Argentina Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyAuvin, Stephane论文数: 0 引用数: 0 h-index: 0机构: CHU Hop Robert Debre, AP HP, Dept Pediat Neurol, Paris, France Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyCervenka, Mackenzie论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Neurol, Comprehens Epilepsy Ctr, Baltimore, MD 21205 USA Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyCross, Helen J.论文数: 0 引用数: 0 h-index: 0机构: UCL NIHR BRC Great Ormond St Inst Child Hlth, London, England Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyDe Giorgis, Valentina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, Pavia, Italy Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyDella Marina, Adela论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Ctr Neuromuscular Disorders Children, Dept Neuropediat Dev Neurol & Social Pediat, Essen, Germany Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyEngelstad, Kristin论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol & Pediat, Vagelos Coll Phys & Surg, New York, NY USA Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyHeussinger, Nicole论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Private Univ, Dept Pediat Neurol, Nurnberg, Germany Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyKossoff, Eric H.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Pediat, Baltimore, MD 21218 USA Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyLeen, Wilhelmina G.论文数: 0 引用数: 0 h-index: 0机构: Canisius Wilhemina Hosp, Dept Neurol, Nijmegen, Netherlands Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyLeiendecker, Baerbel论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Ctr Neuromuscular Disorders Children, Dept Neuropediat Dev Neurol & Social Pediat, Essen, Germany Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyMonani, Umrao R.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Ctr Motor Neuron Biol & Dis, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Pathol & Cell Biol, Ctr Motor Neuron Biol & Dis, Irving Med Ctr, New York, NY USA Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyOguni, Hirokazu论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Dept Pediat, Tokyo, Japan Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyNeal, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Matthews Friends Char & Clin, Lingfield, England Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyPascual, Juan M.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dept Neurol & Neurotherapeut, Eugene McDermott Ctr Human Growth & Dev, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dept Physiol, Eugene McDermott Ctr Human Growth & Dev, Dallas, TX USA Univ Texas Southwestern Med Ctr Dallas, Eugene McDermott Ctr Human Growth & Dev, Dept Pediat, Dallas, TX 75390 USA Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyPearson, Toni S.论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Ctr Headache & Pain Med, New York, NY USA Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyPons, Roser论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Agia Sofia Hosp, Dept Pediat 1, Athens, Greece Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyScheffer, Ingrid E.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth & Royal Childrens Hosp, Florey & Murdoch Inst, Melbourne, Vic, Australia Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyVeggiotti, Pierangelo论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Pediat Neurol V Buzzi Hosp, Child Neuropsychiat, Milan, Italy Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyWillemsen, Michel论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Amalia Childrens Hosp, Dept Pediat Neurol, Med Ctr, Nijmegen, Netherlands Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyZuberi, Sameer M.论文数: 0 引用数: 0 h-index: 0机构: Univ Glasgow, Royal Hosp Children, Glasgow, Lanark, Scotland Univ Glasgow, Coll Med Vet & Life Sci, Glasgow, Lanark, Scotland Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, GermanyDe Vivo, Darryl C.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol & Pediat, Vagelos Coll Phys & Surg, New York, NY USA Childrens Hosp Aschaffenburg Alzenau, Hasenkopf 1, D-63739 Aschaffenburg, Germany
- [6] Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutationsEPILEPSY & BEHAVIOR, 2018, 79 : 169 - 173Di Vito, Lidia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, Italy IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, Italy论文数: 引用数: h-index:机构:Pippucci, Tommaso论文数: 0 引用数: 0 h-index: 0机构: St Orsola Malpighi Univ Hosp, UO Med Genet, Bologna, Italy IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, ItalyBaldassari, Sara论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, Italy IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, ItalyStipa, Carlotta论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, ItalyMostacci, Barbara论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, Italy IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, ItalyAlvisi, Lara论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, ItalyTinuper, Paolo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, ItalyBisulli, Francesca论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy IRCCS Inst Neurol Sci, Via Altura 3, I-40137 Bologna, Italy
- [7] NOVEL MUTATIONS IN SLC2A1 GENE: PHENOTYPE VARIABILITY OF GLUT1 DEFICIENCY SYNDROME IN A SMALL CASE SERIESEPILEPSIA, 2017, 58 : S175 - S175Di Vito, L.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst Neurol Sci, Bologna, Italy IRCCS Inst Neurol Sci, Bologna, Italy论文数: 引用数: h-index:机构:Stipa, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy IRCCS Inst Neurol Sci, Bologna, ItalyAlvisi, L.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst Neurol Sci, Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy IRCCS Inst Neurol Sci, Bologna, ItalyMostacci, B.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst Neurol Sci, Bologna, Italy IRCCS Inst Neurol Sci, Bologna, ItalyNaldi, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy IRCCS Inst Neurol Sci, Bologna, ItalyBaldassari, S.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst Neurol Sci, Bologna, Italy IRCCS Inst Neurol Sci, Bologna, ItalyPippucci, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, UO Med Genet, Polyclin St Orsola Malpighi, Dept Med & Surg Sci, Bologna, Italy IRCCS Inst Neurol Sci, Bologna, ItalyMarini, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Childrens Hosp Meyer, Pediat Neurol Unit & Labs, Florence, Italy IRCCS Inst Neurol Sci, Bologna, ItalyBisulli, F.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst Neurol Sci, Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy IRCCS Inst Neurol Sci, Bologna, ItalyTinuper, P.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Inst Neurol Sci, Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy IRCCS Inst Neurol Sci, Bologna, Italy
- [8] GLUT1 deficiency syndrome: a case report with a novel SLC2A1 mutationVOJNOSANITETSKI PREGLED, 2019, 76 (05) : 543 - 546Ivancevic, Nikola论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Clin Neurol & Psychiat Children & Youth, Belgrade, Serbia Univ Belgrade, Fac Med, Clin Neurol & Psychiat Children & Youth, Belgrade, SerbiaCerovac, Natasa论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Clin Neurol & Psychiat Children & Youth, Belgrade, Serbia Univ Belgrade, Fac Med, Clin Neurol & Psychiat Children & Youth, Belgrade, SerbiaNikolic, Blazo论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Clin Neurol & Psychiat Children & Youth, Belgrade, Serbia Univ Belgrade, Fac Med, Clin Neurol & Psychiat Children & Youth, Belgrade, SerbiaCuturilo, Goran论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Univ Childrens Hosp, Fac Med, Belgrade, Serbia Univ Belgrade, Fac Med, Clin Neurol & Psychiat Children & Youth, Belgrade, SerbiaMarjanovic, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Clin Neurol, Fac Med, Belgrade, Serbia Univ Belgrade, Fac Med, Clin Neurol & Psychiat Children & Youth, Belgrade, SerbiaBrankovic, Marija论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Clin Neurol, Fac Med, Belgrade, Serbia Univ Belgrade, Fac Med, Clin Neurol & Psychiat Children & Youth, Belgrade, SerbiaNovakovic, Ivana论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Clin Neurol, Fac Med, Belgrade, Serbia Univ Belgrade, Fac Med, Clin Neurol & Psychiat Children & Youth, Belgrade, Serbia
- [9] Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndromeSEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2018, 54 : 41 - 44论文数: 引用数: h-index:机构:Peycheva, Valentina论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, Bulgaria论文数: 引用数: h-index:机构:Kancheva, Dalia论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, BulgariaTsekova, Irina论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, BulgariaAleksandrova, Iliana论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Univ Hosp Neurol & Psychiat St Naum, Dept Neurol, Clin Child Neurol, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, BulgariaHristova, Dimitrina论文数: 0 引用数: 0 h-index: 0机构: Tokuda Hosp, Children Neurol Unit, Pediat Clin, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, BulgariaLitvinenko, Ivan论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Univ Pediat Hosp, Dept Pediat Neurol, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, BulgariaTodorova, Diana论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Univ Hosp Neurol & Psychiat St Naum, Dept Neurol, Clin Child Neurol, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, BulgariaSarailieva, Gergana论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Univ Hosp Neurol & Psychiat St Naum, Dept Neurol, Clin Child Neurol, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, BulgariaDimova, Petya论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Univ Hosp Neurol & Psychiat St Naum, Dept Neurol, Clin Child Neurol, Sofia, Bulgaria Med Univ Sofia, Univ Multiprofile Hosp Act Treatment St Ivan Rils, Epilepsy Surg Ctr, Neurosurg Clin, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, BulgariaTomov, Veselin论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Univ Hosp Neurol & Psychiat St Naum, Dept Neurol, Clin Child Neurol, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, BulgariaBozhinova, Veneta论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Univ Hosp Neurol & Psychiat St Naum, Dept Neurol, Clin Child Neurol, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, BulgariaMitev, Vanio论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, 2 Zdrave Str, Sofia 1431, Bulgaria论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [10] Characterization of Speech and Language Phenotype in GLUT1DSCHILDREN-BASEL, 2021, 8 (05):Zanaboni, Martina Paola论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, Italy ERN EpiCARE, Bron, France IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, ItalyPasca, Ludovica论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, Italy Univ Pavia, Dept Brain & Behav Neurosci, I-27100 Pavia, Italy ERN EpiCARE, Bron, France IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, ItalyVilla, Barbara Valeria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, Italy IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, ItalyFaggio, Antonella论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, Italy IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, ItalyGrumi, Serena论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, Italy IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, ItalyProvenzi, Livio论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, Italy IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, ItalyVaresio, Costanza论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, Italy Univ Pavia, Dept Brain & Behav Neurosci, I-27100 Pavia, Italy ERN EpiCARE, Bron, France IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, ItalyDe Giorgis, Valentina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, Italy ERN EpiCARE, Bron, France IRCCS Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, Italy