المؤلفون: Marina A. J. Tijssen, Mark A. Corbett, Zaid Afawi, Paolo Tinuper, Shoji Tsuji, Rachel Straussberg, Ilan Blatt, Samuel F. Berkovic, Francesco Brancati, Amy L Schneider, Lynette G. Sadleir, Sanjay M. Sisodiya, Renzo Guerrini, Shreyasee Chakraborty, Alfredo Berardelli, Silvana Franceschetti, Jozef Gecz, Luciano Xumerle, Pierre Labauge, Liana Veneziano, Simona Balestrini, Ingo Helbig, Martin A. Smith, Laura Canafoglia, Carlo Di Bonaventura, Hiroyuki Ishiura, Boris Keren, Manuela Pendziwiat, Rahel T. Florian, Sylvie Forlani, Anne Fleur van Rootselaar, Giorgio Casari, Christel Depienne, Tommaso Pippucci, Douglas E. Crompton, Edouard Hirsch, Davide Mei, Laura Licchetta, Renee Carroll, Riaan van Coller, Ingrid E. Scheffer, Thessa Kroes, Pasquale Striano, Brigid M. Regan, Francesca Bisulli, Shaun Carswell, Antonio Suppa, Julien Buratti, Karl Martin Klein, Alison Gardner, Caroline Nava, Federico Zara, Melanie Bahlo, Sabine Kaya, Kathryn Friend, Antonietta Coppola, Massimo Delledonne, Aaron M. Wenger, Anthony Correll, Sara Baldassari, Arn M. J. M. van den Maagdenberg, Eric LeGuern, Rachael Catford, Gabrielle Rudolf, Salvatore Striano, Mark F. Bennett, Josemir W. Sander, Kirston Barton, Michele Iacomino

المساهمون: Corbett M.A., Kroes T., Veneziano L., Bennett M.F., Florian R., Schneider A.L., Coppola A., Licchetta L., Franceschetti S., Suppa A., Wenger A., Mei D., Pendziwiat M., Kaya S., Delledonne M., Straussberg R., Xumerle L., Regan B., Crompton D., van Rootselaar A.-F., Correll A., Catford R., Bisulli F., Chakraborty S., Baldassari S., Tinuper P., Barton K., Carswell S., Smith M., Berardelli A., Carroll R., Gardner A., Friend K.L., Blatt I., Iacomino M., Di Bonaventura C., Striano S., Buratti J., Keren B., Nava C., Forlani S., Rudolf G., Hirsch E., Leguern E., Labauge P., Balestrini S., Sander J.W., Afawi Z., Helbig I., Ishiura H., Tsuji S., Sisodiya S.M., Casari G., Sadleir L.G., van Coller R., Tijssen M.A.J., Klein K.M., van den Maagdenberg A.M.J.M., Zara F., Guerrini R., Berkovic S.F., Pippucci T., Canafoglia L., Bahlo M., Striano P., Scheffer I.E., Brancati F., Depienne C., Gecz J., Neurology, ANS - Brain Imaging, Movement Disorder (MD), Corbett, M. A., Kroes, T., Veneziano, L., Bennett, M. F., Florian, R., Schneider, A. L., Coppola, A., Licchetta, L., Franceschetti, S., Suppa, A., Wenger, A., Mei, D., Pendziwiat, M., Kaya, S., Delledonne, M., Straussberg, R., Xumerle, L., Regan, B., Crompton, D., van Rootselaar, A. -F., Correll, A., Catford, R., Bisulli, F., Chakraborty, S., Baldassari, S., Tinuper, P., Barton, K., Carswell, S., Smith, M., Berardelli, A., Carroll, R., Gardner, A., Friend, K. L., Blatt, I., Iacomino, M., Di Bonaventura, C., Striano, S., Buratti, J., Keren, B., Nava, C., Forlani, S., Rudolf, G., Hirsch, E., Leguern, E., Labauge, P., Balestrini, S., Sander, J. W., Afawi, Z., Helbig, I., Ishiura, H., Tsuji, S., Sisodiya, S. M., Casari, G., Sadleir, L. G., van Coller, R., Tijssen, M. A. J., Klein, K. M., van den Maagdenberg, A. M. J. M., Zara, F., Guerrini, R., Berkovic, S. F., Pippucci, T., Canafoglia, L., Bahlo, M., Striano, P., Scheffer, I. E., Brancati, F., Depienne, C., Gecz, J.

المصدر: Nature communications 10 (2019): 1–10. doi:10.1038/s41467-019-12671-y
info:cnr-pdr/source/autori:Corbett M. A.; KroesT.; Veneziano L.; Bennett M. F.; Florian R.; Schneider A. L.; Coppola A.; Licchetta L.; Franceschetti S.; Suppa A.; Wenger A.; Mei D.; Pendziwiat M.; Kaya S.; Delledonne M.; Straussberg R.; Xumerle L.; Regan B; Crompton D.; van Rootselaar A. F.; Correll A.; Catford R.; Bisulli F.; Chakraborty S.; Baldassari S.; Tinuper P.; Barton K.; Carswell S.; Smith M.; Berardelli A.; Carroll R.; Gardner A.; Friend K. L.; Blatt I.; Iacomino M.; Di Bonaventura C.; Striano S.; Buratti J.; Keren B.; Nava C.; Forlani S.; Rudolf G.; Hirsch E.; Leguern E.; Labauge P.; Balestrini S.; Sander J. W.; Afawi Z.; Helbig I.; Ishiura H.; Tsuji S.; Sisodiya S. M.; Casari G.; Sadleir L. G.; van Coller R.; Tijssen M. A. J.; Klein K. M.; van den Maagdenberg A. M. J. M.; Zara F.; Guerrini R.; Berkovic S. F.; Pippucci T.; Canafoglia L.; Bahlo M.; Striano P.; Scheffer I. E.; Brancati F.; Depienne C.; Gecz J./titolo:Intronic ATTTC repeat expansions in STARD7 in fam ilial adult myoclonic epilepsy linked to chromosome 2/doi:10.1038%2Fs41467-019-12671-y/rivista:Nature communications/anno:2019/pagina_da:1/pagina_a:10/intervallo_pagine:1–10/volume:10
Nature Communications
Nature communications, 10(1):4920. Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Nature Communications, 10. NATURE PUBLISHING GROUP
Nature Communications, 10(1):4920. Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Male, Myoclonus, Medizin, General Physics and Astronomy, Epilepsies, Myoclonic, Epilepsies, Intronic variant, repeat expansions,STARD7, familial adult myoclonic epilepsy, chromosome 2, Epilepsy, 0302 clinical medicine, DOMINANT CORTICAL TREMOR, EXPRESSION ANALYSIS, PEDIGREE, LOCUS, LINKAGE, GENE, 2P11.1-Q12.2, REFINEMENT, MUTATION, BAFME, lcsh:Science, Child, Genetics, Multidisciplinary, DNA Repeat Expansion, Disease genetics, Chromosome Mapping, Middle Aged, Pedigree, Myoclonic Epilepsy, Child, Preschool, Chromosomes, Human, Pair 2, Pair 2, STARD7, Female, Adolescent, Adult, Carrier Proteins, Humans, Young Adult, Introns, Human, Science, Locus (genetics), Biology, Chromosomes, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, medicine, Preschool, Gene, Whole genome sequencing, Intron, Chromosome, General Chemistry, medicine.disease, 030104 developmental biology, Microsatellite instability, Myoclonic epilepsy, lcsh:Q, Familial Adult Myoclonic Epilepsy, Myoclonic, Carrier Protein, 030217 neurology & neurosurgery, Neurological disorders

وصف الملف: ELETTRONICO; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b9341ffcf84a189ee14724c5f929558Test
http://hdl.handle.net/11585/712100Test

المؤلفون: Graciela M. Panzetta-Dutari, Luciana Reyna, Mariano Matías Cruz del Puerto, María L. Rojas, Jésica Flores-Martín, Susana Genti-Raimondi

المصدر: Molecular biology reports. 45(6)

مصطلحات موضوعية: 0301 basic medicine, X-Box Binding Protein 1, HEXOSAMINE PATHWAY, UPR, Biology, Protein Serine-Threonine Kinases, JEG-3 CELLS, Ciencias Biológicas, 03 medical and health sciences, Cell Line, Tumor, Endoribonucleases, Genetics, Humans, RNA, Messenger, START DOMAIN, Promoter Regions, Genetic, Molecular Biology, Endoplasmic Reticulum Chaperone BiP, Wnt Signaling Pathway, Heat-Shock Proteins, Hexosamines, General Medicine, Bioquímica y Biología Molecular, Molecular biology, Biosynthetic Pathways, Alternative Splicing, 030104 developmental biology, Glucose, Gene Expression Regulation, STARD7, Unfolded Protein Response, Carrier Proteins, CIENCIAS NATURALES Y EXACTAS

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22479d9411af33b11dff7fc5353049d5Test
https://pubmed.ncbi.nlm.nih.gov/30315445Test