المؤلفون: Albert Salehi, Christopher J. Partridge, Jenny Vikman, Kay E. Davies, Alexander Jeans, Arran Babbs, Martin Bengtsson, Zoltán Molnár, Reuben D. Johnson, Lena Eliasson, Peter L. Oliver, Patrik Rorsman, Marco Capogna

المصدر: Jeans, A F, Oliver, P L, Johnson, R, Capogna, M, Vikman, J, Molnár, Z, Babbs, A, Partridge, C J, Salehi, A, Bengtsson, M, Eliasson, L, Rorsman, P & Davies, K E 2007, ' A dominant mutation in Snap25 causes impaired vesicle trafficking, sensorimotor gating, and ataxia in the blind-drunk mouse ', Proceedings of the National Academy of Sciences of the United States of America, vol. 104, no. 7, pp. 2431-6 . https://doi.org/10.1073/pnas.0610222104

مصطلحات موضوعية: Ataxia, Synaptosomal-Associated Protein 25, Mutation, Missense, Biology, Synaptic vesicle, Exocytosis, Mice, Insulin-Secreting Cells, Diabetes Mellitus, medicine, Animals, Synaptosomal-Associated Protein 25/genetics, Gait Disorders, Neurologic, Genes, Dominant, Genetics, Multidisciplinary, STX1A, Exocytosis/genetics, Mental Disorders, Synaptic Vesicles/genetics, SNAP25, Munc-18, Diabetes Mellitus/etiology, Biological Sciences, Mice, Mutant Strains, Cell biology, Synaptic vesicle exocytosis, Mental Disorders/etiology, Ataxia/genetics, Models, Animal, Synaptic Vesicles, medicine.symptom, Gait Disorders, Neurologic/genetics, SNARE Proteins, SNARE complex, Alcoholic Intoxication, SNARE Proteins/physiology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9922bd3ce074fe03936d8340c3d2d501
https://doi.org/10.1073/pnas.0610222104

المصدر: Epileptic disorders, 13 (3

مصطلحات الفهرس: Génétique moléculaire, Neurologie pédiatrique, Génétique clinique, DNA -- genetics, Electroencephalography, Epilepsy, Benign Neonatal -- etiology -- genetics, Gait Disorders, Neurologic -- genetics, Glucose Transporter Type 1 -- deficiency -- genetics, Humans, Infant, Ketogenic Diet, Male, Mutation, Missense -- genetics, Myoclonic Epilepsy, Juvenile -- etiology -- genetics, Seizures -- etiology -- genetics, Children, De vivo syndrome, Myoclonic epilepsy of infancy, Myoclonus, Seizure, SLC2A1, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/108338
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL

المصدر: Epileptic disorders, 13 (3

مصطلحات الفهرس: Génétique moléculaire, Neurologie pédiatrique, Génétique clinique, DNA -- genetics, Electroencephalography, Epilepsy, Benign Neonatal -- etiology -- genetics, Gait Disorders, Neurologic -- genetics, Glucose Transporter Type 1 -- deficiency -- genetics, Humans, Infant, Ketogenic Diet, Male, Mutation, Missense -- genetics, Myoclonic Epilepsy, Juvenile -- etiology -- genetics, Seizures -- etiology -- genetics, Children, De vivo syndrome, Myoclonic epilepsy of infancy, Myoclonus, Seizure, SLC2A1, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/108338
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL

المصدر: Archives of neurology, 65 (10

مصطلحات الفهرس: Sciences bio-médicales et agricoles, Afferent Pathways -- pathology, Afferent Pathways -- physiopathology, Central Nervous System -- pathology, Central Nervous System -- physiopathology, Cerebellum -- pathology, Cerebellum -- physiopathology, Disease Progression, Friedreich Ataxia -- genetics, Friedreich Ataxia -- pathology, Friedreich Ataxia -- physiopathology, Gait Disorders, Neurologic -- genetics, Gait Disorders, Neurologic -- pathology, Gait Disorders, Neurologic -- physiopathology, Genetic Predisposition to Disease -- genetics, Heart Diseases -- genetics, Humans, Mitochondrial Diseases -- genetics, Mitochondrial Diseases -- pathology, Mitochondrial Diseases -- physiopathology, Spinal Cord -- pathology, Spinal Cord -- physiopathology, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: https://dipot.ulb.ac.be/dspace/bitstream/2013/51513/3/doi_26620.pdf
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51513
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL

المصدر: Archives of neurology, 65 (10

مصطلحات الفهرس: Sciences bio-médicales et agricoles, Afferent Pathways -- pathology, Afferent Pathways -- physiopathology, Central Nervous System -- pathology, Central Nervous System -- physiopathology, Cerebellum -- pathology, Cerebellum -- physiopathology, Disease Progression, Friedreich Ataxia -- genetics, Friedreich Ataxia -- pathology, Friedreich Ataxia -- physiopathology, Gait Disorders, Neurologic -- genetics, Gait Disorders, Neurologic -- pathology, Gait Disorders, Neurologic -- physiopathology, Genetic Predisposition to Disease -- genetics, Heart Diseases -- genetics, Humans, Mitochondrial Diseases -- genetics, Mitochondrial Diseases -- pathology, Mitochondrial Diseases -- physiopathology, Spinal Cord -- pathology, Spinal Cord -- physiopathology, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: https://dipot.ulb.ac.be/dspace/bitstream/2013/51513/3/doi_26620.pdf
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51513
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL