http://rdf.ncbi.nlm.nih.gov/pubchem/reference/24399300

Outgoing Links

Predicate Object
contentType Journal Article|Research Support, Non-U.S. Gov't
issn 2041-1723
issueIdentifier 1
pageRange 4920-
publicationName Nature Communications
startingPage 4920
bibliographicCitation Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, 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, 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 KL, 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 JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nature Communications. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y.
creator http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_eb5e96f64092b2bb48089e48bb27911f
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_9c69c2b48329bb64349304199fff655b
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_3d970e16ca8f9cefaede8cc1f0e759b9
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-0901-0905
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_a82d78b87caefade1ead3a0f0a328514
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-3561-6804
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_c83c2c37f17260ef834694c730e93169
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_e7f53b057a3f77646fdd67436d57f670
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0001-7524-6222
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_be483e9a0ead8ca47353b13055a0bfba
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0003-1272-0518
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0001-7759-8555
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-7212-9554
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_5fd4dfb147109f61f0933df900374c9c
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-3394-2083
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_bd950b0243cfeb064be169449e61ad5a
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_69570f6537679e612434a2d2b4bc716d
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-5385-761X
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_1b97efcea8947632f6ee48cf28f64ca5
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_ee96815fd465ce9cb888b8eabb87644b
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_5a451454e5d09234ece67929a96f1661
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_2c946d9fbe7b9c8b0c961588b7ef37e3
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_bc16c59af2634d15f21d2956405d2e41
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0001-5783-571X
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_67913c2f41ad0a3c1b5083673e8387ba
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_6324d19f8d2c4937fad9794ac95d5e70
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_9f31c201caac4a3e1712570125acb07b
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-5355-7115
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-0115-8980
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-8376-9098
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_4f3a8c4cdf992786b1bbe3e8bb2a36ea
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_e3c5f356e32929b6d8f91369243c5b7b
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0001-5132-0774
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0001-5051-9714
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_3e463807ece0bcfc6ada0fe284d17246
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_f3cd20500f50c14bf397dec007787126
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_afa3dfd55f3be301f1c42c62544cb638
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_3d7e84bbb00a02841c2ebc590fc64b7c
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_f84504b0c37e94cdf188dd31ff102644
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-6654-1665
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_573e3f11866b53ad13b4d50dbfdbc289
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_a4d90a9a8dfc914b47f15b72df3c216d
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_2edb01ff3f2508c0eea240f4970c4d39
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-8598-8147
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_4985da3f3f4888eb6cc749aea0d72eb9
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_eb132db5a98740da0be5d2a47ff0a3d0
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_b066ac59b453b025741df103eaace7b6
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_180fbd3bcf2898cf7211390d65d10b33
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0003-3624-2354
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-5642-8378
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_a6826595463b731b87dba73c1af62442
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_7e15dcc407219216f5eb4a2e47a20721
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_99d7671cce19a1ad3ce3b8aff7303dd0
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-6058-9342
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0003-1416-5407
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-0588-3063
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-7884-6861
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0001-9298-3072
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-7272-7079
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_3d5f4a29c2c6a39f7b52ef10c9259cdf
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_6d0de28b891dc8e50af53696c3c15009
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0001-8569-6163
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_d9c490128a0f06de2349228e8fdbc82c
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_78c1ad6c5360210e616a1636d3b58a94
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_ebc2c92137819775b2ce19f0aeee3e6e
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_d6e6b2c01aaed96deeb56f851d7754b3
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_edd50361fed6083ecff4c031b14e6d80
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_54ec6d47333f93f9e5b32963fa603aeb
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-5324-9155
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_989c087cab61dd0bcda96aea6555cac0
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_fe2733172b8c3b19c7371202f34439b5
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_859763c2b6926c5ab8975c77cbd071b2
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-2050-3911
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_d6a1e800e84ac5725ca18df0074bd5cc
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_3f3f078d60657695cbb7c17385c9c0e7
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_2cf963e9e20019e5fe7ba3c657c06188
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_195d91fddbeaf0b4ec4842dbbc016ad8
date 2019-10-29-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier https://pubmed.ncbi.nlm.nih.gov/PMC6820781
https://doi.org/10.1038/s41467-019-12763-9
https://doi.org/10.1038/s41467-019-12671-y
https://pubmed.ncbi.nlm.nih.gov/31664039
https://pubmed.ncbi.nlm.nih.gov/31664034
isPartOf http://rdf.ncbi.nlm.nih.gov/pubchem/journal/37539
https://portal.issn.org/resource/ISSN/2041-1723
language English
source https://pubmed.ncbi.nlm.nih.gov/
https://scigraph.springernature.com/
https://www.crossref.org/
title Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
discusses http://id.nlm.nih.gov/mesh/C564313
http://id.nlm.nih.gov/mesh/M0003559
http://id.nlm.nih.gov/mesh/M0464138
hasSubjectTerm http://purl.org/au-research/vocabulary/anzsrc-for/2008/06
http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604
discussesAsDerivedByTextMining http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_88d3bda33aa99fa1acccf0a4ce99be0f
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID9480
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID8566
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID9191
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID4028
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_5f0431348e070d800b7fc2925a3b5404
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID7622

Incoming Links

Predicate Subject
isDiscussedBy http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID56910

Total number of triples: 110.