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Annals of Neurology, ISSN 0364-5134, 01/2016, Volume 79, Issue 1, pp. 120 - 131
Journal Article
Epilepsia, ISSN 0013-9580, 07/2018, Volume 59, Issue 7, pp. e103 - e108
Journal Article
Journal of Cellular Biochemistry, ISSN 0730-2312, 11/2017, Volume 118, Issue 11, pp. 3968 - 3975
ABSTRACT FOXM1 transcription factor is a central component of tumor initiation, growth, and progression due to its multiple effects on cell cycle, DNA repair,... 
BCR‐ABL1 | TYROSINE KINASE INHIBITOR RESISTANCE | CHRONIC MYELOID LEUKEMIA | FOXM1 | POLO‐LIKE KINASE 1 | LEUKEMIC STEM CELSS | BCR-ABL1 | POLO-LIKE KINASE 1 | TARGET | PHOSPHORYLATION | BETA-CATENIN ACTIVITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | BCR-ABL | IMPAIRS | SUMOYLATION | CELL BIOLOGY | IMATINIB | BINDING | PROGRAM | REMISSION | Cell Proliferation | Signal Transduction | Humans | Leukemia, Myelogenous, Chronic, BCR-ABL Positive - drug therapy | Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics | Male | Neoplasm Proteins - metabolism | Neoplastic Stem Cells - metabolism | Leukemia, Myelogenous, Chronic, BCR-ABL Positive - pathology | K562 Cells | Leukemia, Myelogenous, Chronic, BCR-ABL Positive - metabolism | Neoplastic Stem Cells - pathology | Female | Forkhead Box Protein M1 - genetics | Forkhead Box Protein M1 - metabolism | Neoplasm Proteins - genetics | Tyrosine | Chromatin | Analysis | Stem cells | Development and progression | Transplantation | Chronic myeloid leukemia | Protein kinases | Cell proliferation | Phosphorylation | Transcription factors | Polo-like kinase 1 | Downstream effects | Leukemia | Activation | Imports | Kinases | DNA repair | Cell adhesion & migration | Angiogenesis | Hematopoiesis | Transcription activation | Cell adhesion | Cell cycle | Polo-like kinase | Fusion protein | Catenin | Protein-tyrosine kinase | Deoxyribonucleic acid--DNA | Binding | Myeloid leukemia | Nuclear transport | Hemopoiesis | Inhibitors
Journal Article
Journal of pediatric neurosciences, ISSN 1817-1745, 10/2018, Volume 13, Issue 4, pp. 496 - 499
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) was first described by De Vivo in 1991, and the classic clinical manifestations include infantile... 
Ataxia | Genetic aspects | Research | Gene mutations | Pediatric research | Biological transport | Genes | Epilepsy | Physiological aspects | Glucose | Dextrose | Genotype & phenotype | Convulsions & seizures | Gait | Biomarkers | Electroencephalography | Mutation | Microcephaly | Patients | SLC2A1 gene | movement disorder | ketogenic diet | Glucose transporter type 1 deficiency syndrome | Case Report
Journal Article
Journal of Pediatric Neurosciences, ISSN 1817-1745, 2014, Volume 9, Issue 1, pp. 36 - 38
The glucose transport protein type 1 (GLUT1) deficit causes a chronic brain energy failure. The classic phenotype of GLUT1 deficiency syndrome is characterized... 
epilepsy | Glucose transport protein type 1 deficiency syndrome | mental retardation | ketogenic diet | EEG | Case studies | Glucose metabolism | Nervous system diseases | Physiological aspects | Research | Neurological research | Pediatric neurology | Health aspects | Ketogenic diet | Genotype & phenotype | Ataxia | Mutation | Epilepsy | Age | Case Report
Journal Article
Neuropediatrics, ISSN 0174-304X, 04/2018, Volume 49, Issue S 01, pp. S1 - S12
Conference Proceeding
Journal Article
Human Genetics, ISSN 0340-6717, 2015, Volume 134, Issue 1, pp. 123 - 126
Journal Article
Epilepsia, ISSN 0013-9580, 10/2006, Volume 47, Issue 10, pp. 1629 - 1635
Journal Article
Brain & Development, ISSN 0387-7604, 2010, Volume 32, Issue 9, pp. 783 - 789
Journal Article
Epilepsia, ISSN 0013-9580, 06/2009, Volume 50, Issue 6, pp. 1638 - 1640
Summary From the age of 24 years a young man with a definitive diagnosis of aspartylglucosaminuria (AGU) presented short‐lasting sleep‐related paroxysmal... 
Aspartylglucosaminuria | Sleep | Nocturnal frontal lobe epilepsy | Hypermotor seizures | FRONTAL-LOBE EPILEPSY | DISORDERS | CLINICAL NEUROLOGY | MOTOR EVENTS | Polysomnography - methods | Aspartylglucosaminuria - complications | Humans | Video Recording - methods | Adult | Male | Sleep Wake Disorders - complications | Seizures - complications | Epilepsy | Seizures (Medicine)
Journal Article
by Panagiotakaki, Eleni and De Grandis, Elisa and Stagnaro, Michela and Heinzen, Erin L and Fons, Carmen and Sisodiya, Sanjay and De Vries, Boukje and Goubau, Christophe and Weckhuysen, Sarah and Kemlink, David and Scheffer, Ingrid and Lesca, Gaëtan and Rabilloud, Muriel and Klich, Amna and Ramirez-Camacho, Alia and Ulate-Campos, Adriana and Campistol, Jaume and Giannotta, Melania and Moutard, Marie-Laure and Doummar, Diane and Hubsch-Bonneaud, Cecile and Jaffer, Fatima and Cross, Helen and Gurrieri, Fiorella and Tiziano, Danilo and Nevsimalova, Sona and Nicole, Sophie and Neville, Brian and Van Den Maagdenberg, Arn M. J. M and Mikati, Mohamad and Goldstein, David B and Vavassori, Rosaria and Arzimanoglou, Alexis and Bassi, Maria Teresa and Borgatti, Renato and Cernetti, Roberta and Di Rosa, Gabriella and Franchini, Filippo and Gambardella, Antonio and Giacanelli, Manlio and Gobbi, Giuseppe and Granata, Tiziana and Guerrini, Renzo and Incorpora, Gemma and Nardocci, Nardo and Neri, Giovanni and Ragona, Francesca and Santucci, Margherita and Sartori, Stefano and Veneselli, Edvige and Vigevano, Federico and Zucca, Claudio and Aicardi, J and An, I and Arbues, A.S and Arzimanoglou, A and Bahi-Buisson, N and Barthez, M.-A and Billette de Villemeur, T and Bourgeois, M and Bru, M and Chabrol, B and Chaigne, D and Chaunu, M.P and Chaunu, C and Cournelle, A.M and Davoine, C.-S and De St Martin, A and Deny, B and Desguerres, I and Des Portes, V and Doummar, D and Dulac, O and Dusser, A and Gerard, M and Gitiaux, C and Godet Kiesel, I and Gokben, S and Goutieres, F and Guerrin, M.-H and Heron-Longe, B and Hubsch-Bonneaud, C and Hully, M and Husson, M and Husson, Ch and Kaminska, A and Laroche, C and Lazaro, L and Lepine, A and Magy, L and Marchal, C and Michel, J and Milh, M and Motte, J and Moutard, M.L and Napuri, S and Nassogne, M.C and Neau, J.P and Nicole, S and Panagiotakaki, Eleni and ... and IBAHC Consortium and French AHC Consortium and Int AHC Consortium and International AHC Conso