Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
- Resource Type
- Source
- 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 - Subject
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 - Language
- English
- ISSN
- 2041-1723