المؤلفون: Leen, W.G. (Wilhelmina), Klepper, J. (Joerg), Verbeek, M.M. (Marcel), Leferink, M. (Maike), Hofste, T. (Tom), Engelen, B.G.M. (Baziel) van, Wevers, R.A. (Ron), Arthur, T. (Todd), Bahi-Buisson, N. (Nadia), Ballhausen, D. (Diana), Bekhof, J. (Jolita), Bogaert, P. (Patrick) van, Carrilho, I. (Inês), Chabrol, B. (Brigitte), Champion, M.P. (Michael), Coldwell, J. (James), Clayton, P. (Peter), Donner, E. (Elizabeth), Evangeliou, A. (Athanasios), Ebinger, F. (Friedrich), Farrell, K. (Kevin), Forsyth, R.J. (Rob), Goede, C.G.E.L. (Christian) de, Gross, S. (Stephanie), Grünewald, S. (Sonja), Holthausen, H. (Hans), Jayawant, S. (Sandeep), Lachlan, K. (Katherine), Laugel, V. (Vincent), Leppig, K. (Kathy), Lim, M.J. (Ming), Mancini, G.M.S. (Grazia), Marina, A.D., Martorell, L. (Loreto), McMenamin, J. (Joe), Meuwissen, M.E.C. (Marije), Mundy, H. (Helen), Nilsson, N.O. (Nils), Panzer, A. (Axel), Poll-The, B.T., Rauscher, C. (Christian), Rouselle, C.M.R. (Christophe), Sandvig, I. (Inger), Scheffner, T. (Thomas), Sheridan, E. (Eamonn), Simpson, N. (Neil), Sykora, P. (Parol), Tomlinson, R. (Richard), Trounce, J. (John), Webb, D.W.M. (David), Weschke, B. (Bernhard), Scheffer, H. (Hans), Willemsen, M.A. (Michél)

المصدر: Brain: a journal of neurology vol. 133 no. 3, pp. 655-670

مصطلحات موضوعية: Cerebrospinal fluid, GLUT1 deficiency syndrome, Ketogenic diet, Phenotype, SLC2A1 gene

العلاقة: http://repub.eur.nl/pub/27314Test; urn:hdl:1765/27314

الإتاحة: https://doi.org/10.1093/brain/awp336Test
http://repub.eur.nl/pub/27314Test

المؤلفون: Yubero, Delia, O’Callaghan, Mar, Montero, Raquel, Ormazabal, Aida, Armstrong, Judith, Espinos, Carmina, Rodríguez, Maria A, Jou, Cristina, Castejon, Esperanza, Aracil, Maria A, Cascajo, Maria V, Gavilan, Angela, Briones, Paz, Jimenez-Mallebrera, Cecilia, Pineda, Mercedes, Navas, Plácido, Artuch, Rafael

مصطلحات موضوعية: Glucose transporter type I deficiency, SLC2A1 gene, Coenzyme Q10, Ataxia, Ketogenic diet

العلاقة: http://www.biomedcentral.com/1471-2431/14/284Test

الإتاحة: http://www.biomedcentral.com/1471-2431/14/284Test

المؤلفون: Siokas V., Fotiadou A., Dardiotis E., Kotoula M.G., Tachmitzi S.V., Chatzoulis D.Z., Zintzaras E., Stefanidis I., Tsironi E.E.

المصدر: Ophthalmic Research ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85037369680&doi=10.1159%2f000480241&partnerID=40&md5=cdb492d5f9157f42433c71acf0b7e0d5Test

مصطلحات موضوعية: glucose transporter 1, SLC2A1 protein, human, adult, Article, cohort analysis, controlled study, diabetic complication, diabetic nephropathy, diabetic retinopathy, disease course, female, gene, genetic linkage, genetic risk, genetic variability, genotyping technique, haplotype, major clinical study, male, non insulin dependent diabetes mellitus, pathogenesis, priority journal, single nucleotide polymorphism, SLC2A1 gene, aged, case control study, complication, genetic predisposition, genetic variation

العلاقة: http://hdl.handle.net/11615/79034Test

الإتاحة: https://doi.org/10.1159/000480241Test
http://hdl.handle.net/11615/79034Test

المؤلفون: Luis González Gutiérrez-Solana, Begoña Gómez Fernández, Elvira Cañedo Villarroya, Jana Ruiz Herrero, C. Pedrón-Giner, Laura Andrea Puerta Macfarland, Beatriz García Alcolea

المصدر: Nutrients
Volume 13
Issue 3
Nutrients, Vol 13, Iss 840, p 840 (2021)

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Constipation, Movement disorders, Monosaccharide Transport Proteins, food.diet, medicine.medical_treatment, GLUT1 deficiency syndrome, SLC2A1 gene, lcsh:TX341-641, Single Center, Article, 03 medical and health sciences, 0302 clinical medicine, food, Seizures, medicine, Humans, pediatric epilepsy, Hypercalciuria, Child, Glucose Transporter Type 1, Atkins diet, Movement Disorders, 030109 nutrition & dietetics, Nutrition and Dietetics, business.industry, Infant, refractory epilepsy, Anthropometry, medicine.disease, Treatment Outcome, ketogenic diet, Child, Preschool, Mutation, Cohort, Female, movement disorder, medicine.symptom, Diet, Ketogenic, business, lcsh:Nutrition. Foods and food supply, Diet, High-Protein Low-Carbohydrate, 030217 neurology & neurosurgery, Carbohydrate Metabolism, Inborn Errors, Food Science, Ketogenic diet

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9af4c337072c9ea692bfb341bcad2890Test
https://doi.org/10.3390/nu13030840Test

المؤلفون: Betül Baykan, Ugur Ozbek, Candan Gürses, Nerses Bebek, Sibel Uğur-İşeri, Güneş Altıokka-Uzun, Ozkan Ozdemir

المصدر: Epileptic disorders : international epilepsy journal with videotape. 20(5)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Myoclonus, Eyelid myoclonia, Adolescent, Single-nucleotide polymorphism, Drug resistance, Biology, law.invention, 03 medical and health sciences, Exon, Young Adult, 0302 clinical medicine, law, Slc2a1 gene, Humans, Polymerase chain reaction, Genetics, Glucose Transporter Type 1, Generalized seizure, General Medicine, Middle Aged, 030104 developmental biology, Neurology, Epilepsy, Generalized, Female, Neurology (clinical), Genetic generalized epilepsy, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd260e3310d2ca7d67caa35b2b11b568Test
https://pubmed.ncbi.nlm.nih.gov/30361188Test

المؤلفون: Messana T., Russo A., Vergaro R., Boni A., Santucci M., Pini A.

المساهمون: Messana T., Russo A., Vergaro R., Boni A., Santucci M., Pini A.

مصطلحات موضوعية: Glucose transporter type 1 deficiency syndrome, ketogenic diet, movement disorder, SLC2A1 gene

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30937099; info:eu-repo/semantics/altIdentifier/wos/WOS:000460051100025; volume:13; issue:4; firstpage:496; lastpage:499; numberofpages:4; journal:JOURNAL OF PEDIATRIC NEUROSCIENCES; http://hdl.handle.net/11585/739602Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85062412400; http://www.pediatricneurosciences.comTest/

الإتاحة: https://doi.org/10.4103/JPN.JPN_169_17Test
http://hdl.handle.net/11585/739602Test
http://www.pediatricneurosciences.comTest/

المؤلفون: Juan M. Pascual, John Kitchens, Ramiro S. Maldonado, Matt Henry

المصدر: Neurology Genetics. 6:e472

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Deficiency syndrome, 03 medical and health sciences, Epilepsy, chemistry.chemical_compound, 0302 clinical medicine, Slc2a1 gene, Internal medicine, medicine, Genetics (clinical), Fluorodeoxyglucose, biology, business.industry, Retinal, medicine.disease, 030104 developmental biology, chemistry, biology.protein, GLUT1, Neurology (clinical), business, 030217 neurology & neurosurgery, Glucose Transporter Type 1, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d68abdce7516a7c7aa00158172fef6beTest
https://doi.org/10.1212/nxg.0000000000000472Test

المؤلفون: Claudia M Weller, Joost Haan, Hans Scheffer, Arn M. J. M. van den Maagdenberg, Michèl A.A.P. Willemsen, Boukje de Vries, Gisela M. Terwindt, Michel D. Ferrari, Brian G. R. Neville, Erik-Jan Kamsteeg, John S. Duncan, Wilhelmina G. Leen, Marije A Geilenkirchen

المصدر: Cephalalgia, 35, 1, pp. 10-5
Cephalalgia, 35(1), 10-15
Cephalalgia, 35, 10-5

مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Adolescent, Hemiplegic migraine (HM), DNA Mutational Analysis, Migraine with Aura, GLUT1 deficiency syndrome, SLC2A1 gene, Hemiplegia, Gene mutation, medicine.disease_cause, Young Adult, ATP1A2, ATP1A3, Humans, Medicine, Age of Onset, Child, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Episodic ataxia, exercise-induced dystonia, Glucose Transporter Type 1, Mutation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Alternating hemiplegia of childhood, alternating hemiplegia of childhood (AHC), General Medicine, Paroxysmal dyskinesia, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Migraine, Female, Neurology (clinical), business, Multiplex Polymerase Chain Reaction, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5fc6345540dfa2fc193d0b798a56baeTest
https://hdl.handle.net/2066/155256Test

المؤلفون: Christian Korff, Anastasia Martinez-Esteve Melnikova

المصدر: Pediatric Neurology Briefs
Pediatric Neurology Briefs, Vol 29, Iss 2 (2015)
Pediatric Neurology Briefs, Vol. 29, No 2 (2015) P. 14

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Deficiency syndrome, medicine.medical_treatment, GLUT1 deficiency syndrome, Neurosurgery, SLC2A1 gene, Epilepsy, Child Development, Paroxysmal exercise-induced dyskinesia, Slc2a1 gene, Seizure Disorders, medicine, Child, Brain Diseases, ddc:618, business.industry, lcsh:RJ1-570, Infant, lcsh:Pediatrics, Ketogenic diet, medicine.disease, Institutional repository, Neurology, Nervous System Diseases, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ada917955d1ee6a57743233e309a817aTest
https://pubmed.ncbi.nlm.nih.gov/26933557Test

المؤلفون: Juozapaitė, Sandra, Praninskienė, Rūta, Burnytė, Birutė, Ambrozaitytė, Laima, Skerlienė, Birutė

المصدر: Brain & development, Amsterdam : Elsevier, 2017, Vol. 39, Iss. 4, p. 352-355 ; ISSN 0387-7604 ; eISSN 1872-7131

مصطلحات موضوعية: Glucose transporter 1 deficiency syndrome, Movement disorder, Paroxysmal dyskinesia, Ketogenic diet, SLC2A1 gene

العلاقة: http://vu.lvb.lt/VU:ELABAPDB24068726&prefLang=en_USTest

الإتاحة: https://doi.org/10.1016/j.braindev.2016.11.007Test
http://vu.lvb.lt/VU:ELABAPDB24068726&prefLang=en_USTest