The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Saved in:

Bibliographic Details
Published in	Neuromuscular disorders : NMD Vol. 27; no. 12; pp. 1152 - 1183
Main Authors	Bonne, Gisèle, Rivier, François, Hamroun, Dalil
Format	Journal Article
Language	English
Published	England Elsevier B.V 01.12.2017 Elsevier
Subjects	Cell Nucleus - genetics Chromosome Mapping Cognitive science Genetics Genome - genetics Human genetics Humans Life Sciences Neuromuscular Diseases - genetics Neuroscience Ion channel muscle diseases Congenital myasthenic syndromes Congenital myopathies Malignant hyperthermias Motor neurone diseases Myotonic syndromes Hereditary cardiomyopathies Hereditary ataxias Other neuromuscular disorders Hereditary motor and sensory neuropathies Congenital muscular dystrophies Metabolic myopathies Muscular dystrophies Hereditary paraplegias Distal myopathies Other myopathies
Online Access	Get full text
ISSN	0960-8966 1873-2364 1873-2364
DOI	10.1016/j.nmd.2017.10.005

Cover

Author	Rivier, François Bonne, Gisèle Hamroun, Dalil
Author_xml	– sequence: 1 givenname: Gisèle surname: Bonne fullname: Bonne, Gisèle email: g.bonne@institut-myologie.org organization: Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, Centre de Recherche en Myologie, Institut de Myologie, G.H. Pitié-Salpêtrière, Paris, France – sequence: 2 givenname: François surname: Rivier fullname: Rivier, François organization: Neuropédiatrie & CR Maladies Neuromusculaires, CHU de Montpellier, U1046 INSERM, UMR9214 CNRS, Université de Montpellier, France – sequence: 3 givenname: Dalil surname: Hamroun fullname: Hamroun, Dalil organization: CHRU de Montpellier, Direction de la Recherche et de l'Innovation, Hôpital La Colombière, 39 Avenue Charles Flahault, Montpellier 34295, France
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/29961566$$D View this record in MEDLINE/PubMed https://hal.sorbonne-universite.fr/hal-01668854$$DView record in HAL
BookMark	eNqNks1q3DAYRUVJaSZpH6Cb4mWy8FQ_tizRVQhtUhjIJoHshCx_bjSVpalkT5m3r4yTFrJIsxK-nHORLj5BRz54QOgjwWuCCf-8XfuhW1NMmvy9xrh-g1ZENKykjFdHaIUlx6WQnB-jk5S2GJO64c07dEyl5KTmfIXubx-gyA2i2ENMNvgi9MWYsx_goRh162BOhuBDTqwpPEwxDFMyk9Ox6GwKsctmceYn4yBHGQsDnL9Hb3vtEnx4PE_R3bevt5fX5ebm6vvlxaY0lcBjKZuu0lpUDTWU1bwmghmBTcs56UBWRBAjGO2J6FtcM8JaTEndthwkrXvdV-wU0aV38jt9-K2dU7toBx0PimA1z6S2Ks-k5pnmKM-UpfNFetD_8KCtur7YqDnLGheirvYks2cLu4vh1wRpVINNBpzTHsKUci9nDcWVlBn99IhO7QDd3-anuTPQLICJIaUIvTJ21GOefYzauhdvTJ6Zr3nll8WBvP_eQlTJWPAGOhvBjKoL9kVbPrONs_kP0O4nHP7j_gHaaMoM
CitedBy_id	crossref_primary_10_14253_acn_2019_21_2_79 crossref_primary_10_1186_s13023_019_1227_x crossref_primary_10_1007_s00415_018_9165_4 crossref_primary_10_1186_s40478_018_0648_4 crossref_primary_10_1002_mgg3_552 crossref_primary_10_1038_s41598_024_60761_9 crossref_primary_10_1080_17512433_2019_1634543 crossref_primary_10_1016_j_nmd_2018_08_012 crossref_primary_10_3389_fgene_2019_00608 crossref_primary_10_1016_j_jep_2021_114359 crossref_primary_10_1016_j_ajhg_2019_01_012 crossref_primary_10_3390_genes14122174 crossref_primary_10_3389_fneur_2022_857959 crossref_primary_10_1016_j_nmd_2018_11_003 crossref_primary_10_1146_annurev_med_081117_010451 crossref_primary_10_1038_s41467_024_45099_0 crossref_primary_10_3390_biom11111633 crossref_primary_10_1016_j_rmclc_2018_07_005 crossref_primary_10_1242_dmm_041434 crossref_primary_10_3389_fneur_2021_761636 crossref_primary_10_1038_s41431_018_0305_1 crossref_primary_10_1186_s44247_024_00078_9 crossref_primary_10_3390_antiox9100964 crossref_primary_10_1016_j_rmclc_2018_08_006 crossref_primary_10_1002_mgg3_1205 crossref_primary_10_3233_JND_230021 crossref_primary_10_3389_fneur_2020_559327 crossref_primary_10_1212_WNL_0000000000210116 crossref_primary_10_1002_ana_26461 crossref_primary_10_1111_nan_12652 crossref_primary_10_3390_genes12081199
ContentType	Journal Article
Copyright	2017 Distributed under a Creative Commons Attribution 4.0 International License
Copyright_xml	– notice: 2017 – notice: Distributed under a Creative Commons Attribution 4.0 International License
DBID	AAYXX CITATION CGR CUY CVF ECM EIF NPM 7X8 1XC VOOES ADTOC UNPAY
DOI	10.1016/j.nmd.2017.10.005
DatabaseName	CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed MEDLINE - Academic Hyper Article en Ligne (HAL) Hyper Article en Ligne (HAL) (Open Access) Unpaywall for CDI: Periodical Content Unpaywall
DatabaseTitle	CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) MEDLINE - Academic
Database_xml	– sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database – sequence: 3 dbid: UNPAY name: Unpaywall url: https://proxy.k.utb.cz/login?url=https://unpaywall.org/ sourceTypes: Open Access Repository
DeliveryMethod	fulltext_linktorsrc
Discipline	Medicine
EISSN	1873-2364
EndPage	1183
ExternalDocumentID	oai:HAL:hal-01668854v1 29961566 10_1016_j_nmd_2017_10_005 S0960896617313962
Genre	Journal Article
GroupedDBID	--- --K --M .1- .FO .GJ .~1 0R~ 123 1B1 1P~ 1RT 1~. 1~5 29N 4.4 457 4G. 53G 5VS 7-5 71M 8P~ 9JM AABNK AAEDT AAEDW AAIKJ AAKOC AALRI AAOAW AAQFI AAQXK AATTM AAXKI AAXLA AAXUO AAYWO ABBQC ABCQJ ABFNM ABFRF ABJNI ABLJU ABMAC ABMZM ABTEW ABWVN ABXDB ACDAQ ACGFO ACGFS ACIEU ACIUM ACLOT ACRLP ACRPL ACVFH ADBBV ADCNI ADEZE ADMUD ADNMO ADVLN AEBSH AEFWE AEIPS AEKER AENEX AEUPX AEVXI AFJKZ AFPUW AFRHN AFTJW AFXIZ AGHFR AGQPQ AGUBO AGWIK AGYEJ AHHHB AIEXJ AIGII AIIUN AIKHN AITUG AJRQY AJUYK AKBMS AKRLJ AKRWK AKYEP ALMA_UNASSIGNED_HOLDINGS AMRAJ ANKPU ANZVX APXCP ASPBG AVWKF AXJTR AZFZN BKOJK BLXMC BNPGV CS3 DU5 EBS EFJIC EFKBS EFLBG EJD EO8 EO9 EP2 EP3 F5P FDB FEDTE FGOYB FIRID FNPLU FYGXN G-2 G-Q GBLVA HDW HMK HMO HMQ HVGLF HZ~ IHE J1W KOM LX8 M29 M2V M41 MO0 MOBAO N9A O-L O9- OAUVE OP~ OZT P-8 P-9 P2P PC. Q38 R2- ROL RPZ SAE SCC SDF SDG SDP SEL SES SEW SNS SPCBC SSH SSN SSZ T5K UHS UNMZH WUQ Z5R ~G- ~HD AACTN AADPK AAIAV ABLVK ABYKQ AFCTW AFKWA AJBFU AJOXV AMFUW LCYCR RIG ZA5 AAYXX CITATION CGR CUY CVF ECM EIF NPM 7X8 1XC VOOES ADTOC UNPAY
ID	FETCH-LOGICAL-c480t-97d4aa8472c23565183c80cb661de94181c832f18fb05313b0215bb6e925faf43
IEDL.DBID	UNPAY
ISSN	0960-8966 1873-2364
IngestDate	Sun Oct 26 04:01:05 EDT 2025 Tue Oct 14 20:33:43 EDT 2025 Sun Sep 28 05:57:44 EDT 2025 Thu Apr 03 07:02:49 EDT 2025 Sat Oct 25 05:52:03 EDT 2025 Thu Apr 24 22:57:27 EDT 2025 Fri Feb 23 02:13:49 EST 2024 Tue Oct 14 19:35:53 EDT 2025
IsDoiOpenAccess	true
IsOpenAccess	true
IsPeerReviewed	true
IsScholarly	true
Issue	12
Keywords	Ion channel muscle diseases Congenital myasthenic syndromes Congenital myopathies Malignant hyperthermias Motor neurone diseases Myotonic syndromes Hereditary cardiomyopathies Hereditary ataxias Other neuromuscular disorders Hereditary motor and sensory neuropathies Congenital muscular dystrophies Metabolic myopathies Muscular dystrophies Hereditary paraplegias Distal myopathies Other myopathies
Language	English
License	Distributed under a Creative Commons Attribution 4.0 International License: http://creativecommons.org/licenses/by/4.0 other-oa
LinkModel	DirectLink
MergedId	FETCHMERGED-LOGICAL-c480t-97d4aa8472c23565183c80cb661de94181c832f18fb05313b0215bb6e925faf43
Notes	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ORCID	0000-0002-4853-8227 0000-0002-2516-3258 0000-0002-3896-8792
OpenAccessLink	https://proxy.k.utb.cz/login?url=https://hal.sorbonne-universite.fr/hal-01668854
PMID	29961566
PQID	2063720499
PQPubID	23479
PageCount	32
ParticipantIDs	unpaywall_primary_10_1016_j_nmd_2017_10_005 hal_primary_oai_HAL_hal_01668854v1 proquest_miscellaneous_2063720499 pubmed_primary_29961566 crossref_citationtrail_10_1016_j_nmd_2017_10_005 crossref_primary_10_1016_j_nmd_2017_10_005 elsevier_sciencedirect_doi_10_1016_j_nmd_2017_10_005 elsevier_clinicalkey_doi_10_1016_j_nmd_2017_10_005
PublicationCentury	2000
PublicationDate	2017-12-01
PublicationDateYYYYMMDD	2017-12-01
PublicationDate_xml	– month: 12 year: 2017 text: 2017-12-01 day: 01
PublicationDecade	2010
PublicationPlace	England
PublicationPlace_xml	– name: England
PublicationTitle	Neuromuscular disorders : NMD
PublicationTitleAlternate	Neuromuscul Disord
PublicationYear	2017
Publisher	Elsevier B.V Elsevier
Publisher_xml	– name: Elsevier B.V – name: Elsevier
SSID	ssj0015767
Score	2.3588562
SourceID	unpaywall hal proquest pubmed crossref elsevier
SourceType	Open Access Repository Aggregation Database Index Database Enrichment Source Publisher
StartPage	1152
SubjectTerms	Cell Nucleus - genetics Chromosome Mapping Cognitive science Genetics Genome - genetics Human genetics Humans Life Sciences Neuromuscular Diseases - genetics Neuroscience
SummonAdditionalLinks	– databaseName: Science Direct dbid: .~1 link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1La9wwEB62OfRxCH0mzqOooYc-cNaStbJ8DKFhKU0uSWBvxpJlumXXuzTrlF7y2zMjP2gJ2UCOHkZ-jOfx2fo0AvgYm4I7rEOhs6kNJRcqNErI0AleWhslLvbk8dMzNb6U3yejyQCOu7UwRKtsc3-T0322biXD1prD5XQ6PCfwrRGt8yRGGOPzsJQJ7WJweNPTPDjiab9kGpVD0u5mNj3Hq5pTs1CeHHqC1-i-2vTkJ5Ek7yLQF_Csrpb53z_5bPZPVTp5CZstnGRHzR2_goGrXsPT03bC_A1M0A0YXluz6-bHGFuUDDEfQ79xbEXrpkiCvrhAydQy399yXjf0VFa0vTmv2KeKGh-jiJq6zt3nt3B58u3ieBy2mymEVupoFaZJIfMca5GwIkYUh6FsdWQN2q9wqcRCbzG4S65LQ3EZGwIDxiiXilGZlzJ-BxvVonLbwEQuSodaiVa5VMZoTBMyQZzpHI8KKwOIOjNmtu00ThtezLKOUvYrQ8tnZHkSoeUD-NIPWTZtNtYpi-7dZN36Ucx4GRaBdYNkP-g_B3to2AG-_P6eqBn3-OhHRjLUV1qP5DUP4EPnGxlGJ0255JVb1Fd4JuW3AUrTALYap-nPhUBA0ddzAF97L3r44Xce9xy78JyOGiLOHmysftduH-HUyrz38XILujUXlg priority: 102 providerName: Elsevier
Title	The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome)
URI	https://www.clinicalkey.com/#!/content/1-s2.0-S0960896617313962 https://dx.doi.org/10.1016/j.nmd.2017.10.005 https://www.ncbi.nlm.nih.gov/pubmed/29961566 https://www.proquest.com/docview/2063720499 https://hal.sorbonne-universite.fr/hal-01668854
UnpaywallVersion	submittedVersion
Volume	27
hasFullText	1
inHoldings	1
isFullTextHit
isPrint
journalDatabaseRights	– providerCode: PRVESC databaseName: Baden-Württemberg Complete Freedom Collection (Elsevier) customDbUrl: eissn: 1873-2364 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0015767 issn: 1873-2364 databaseCode: GBLVA dateStart: 20110101 isFulltext: true titleUrlDefault: https://www.sciencedirect.com providerName: Elsevier – providerCode: PRVESC databaseName: Elsevier ScienceDirect customDbUrl: eissn: 1873-2364 dateEnd: 20210930 omitProxy: true ssIdentifier: ssj0015767 issn: 1873-2364 databaseCode: ACRLP dateStart: 19950101 isFulltext: true titleUrlDefault: https://www.sciencedirect.com providerName: Elsevier – providerCode: PRVESC databaseName: Elsevier ScienceDirect customDbUrl: eissn: 1873-2364 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0015767 issn: 1873-2364 databaseCode: .~1 dateStart: 19950101 isFulltext: true titleUrlDefault: https://www.sciencedirect.com providerName: Elsevier – providerCode: PRVESC databaseName: ScienceDirect Freedom Collection Journals customDbUrl: eissn: 1873-2364 dateEnd: 20210930 omitProxy: true ssIdentifier: ssj0015767 issn: 1873-2364 databaseCode: AIKHN dateStart: 19950101 isFulltext: true titleUrlDefault: https://www.sciencedirect.com providerName: Elsevier – providerCode: PRVLSH databaseName: Elsevier Journals customDbUrl: mediaType: online eissn: 1873-2364 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0015767 issn: 1873-2364 databaseCode: AKRWK dateStart: 19910101 isFulltext: true providerName: Library Specific Holdings
link	http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV1Jj9MwFH6athLLgX0JS2UQBxY5ZHEc51ghRmWZag5UKqcodhwNM20yapNBcOC385zEEQIxoznmxbZivWe_z_HnzwAvQpn7GvMQ1SpRlPkBp5IHjOrAL5TyYh225PGDBZ8v2cdVtNqDt_YszBEizl21lYblQRvLTdBusTWvcOHLuRARG8GERwi-xzBZLg5nX1tFPe5RkbS7k76IQ2qk0e0-ZsvoKjdGGtSP3ZbOFf0vE42ODCXyX7x5Ha425Wn243u2Xv-Rg_ZvwqH9-o56cuI2tXTVz7-EHS_RvVtwo8ejZNYF0G3Y0-UduHLQ77jfhRXGEcHuCHLW_VkjVUEQNBIMPE1qc_DKWDCYK7R8U6QVyNw0Hb-V5L245468LI1yMpqMKuxGv7oHy_33X97NaX8bA1VMeDVN4pxlGSazQAUhwkCcC5TwlMQEn-uEIVJQODsUviikGdihNGhCSq6TICqygoX3YVxWpX4IJMiCQmOpWPCMcSkFzjMsRqCqte_lijngWc-kqpcqNzdmrFPLSTtO0ZmpcaYxoTMdeD1UOe10Os4rHFh3p_YAKk6ZKWaR8yqxoVKPTjrUcVG15-jZ4ZuMmvd89jk1NuvtM9-BZzbcUhzeZs8mK3XV7LAl3t4jlCQOPOjicGgLkQQ3y28H3gyBeXHnH12q9GO4Zp46As8TGNfbRj9FGFbLKYzcX_4UJrMPn-aLaT8QfwNoFS4I
linkProvider	Unpaywall
linkToHtml	http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9QwEB6VIlE4IMoz5WUQBx5KN3YcxzlWVattu9sLrbQ3K3YcsWg3u6K7RVz625nJSyDUVuI6GecxmceX-PMY4ENsC-6xDoXeZS6UXKjQKiFDL3jpXJT6uCaPj0_V8FweT5LJBux3a2GIVtnm_ian19m6lQxaaw6W0-ngK4FvjWidpzHCGMrDd2UiUvoC273qeR4cAXW9Zhq1Q1LvpjZrklc1p26hPN2tGV7JdcXpzjdiSf4LQR_A1rpa5r9-5rPZH2Xp8BE8bPEk22tueRs2fPUY7o3bGfMnMEE_YHhtzS6bP2NsUTIEfQwdx7MVLZwiCTrjAiVTx-oGl_N1w09lRduc84J9rKjzMYqoq-vcf3oK54cHZ_vDsN1NIXRSR6swSwuZ51iMhBMxwjiMZacjZ9GAhc8kVnqH0V1yXVoKzNgSGrBW-UwkZV7K-BlsVovKvwAmclF61Eq1yqWyVmOekCkCTe95VDgZQNSZ0bi21TjteDEzHafsu0HLG7I8idDyAXzuhyybPhs3KYvu3ZhuASmmPINV4KZBsh_0l4fdNuw9vvz-nqgb93BvZEiG-krrRF7yAN51vmEwPGnOJa_8Yn2BZ1L1PkBZFsDzxmn6cyESUPT5HMCX3otuf_id_3uOt7A1PBuPzOjo9OQl3KcjDSvnFWyufqz9a8RWK_umjp3f1CQauQ
linkToUnpaywall	http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV1Lb9QwEB61WwnKgXchvGQQBx7ykofjOMcVolohWvXASsspih1HBXaTajcpgl_PTBJHCESrHjOxrVgz9nyOP38GeBnpIrCYh7g1qeEiCCXXMhTchkFpjJ_YqCOPHx3L-UJ8XMbLHXjnzsKcIuLc1htNLA_eOm6CnZYbeoULXymVisUu7MkYwfcE9hbHJ7MvnaKe9LlKu93JQCURJ2l0t4_ZMbqqNUmDBsm0o3PF_8tEu6dEifwXb96A6211lv_8ka9Wf-Sgw1tw4r6-p558n7aNnppffwk7XqF7t-HmgEfZrA-gO7Bjq7tw7WjYcb8HS4wjht1R7Lz_s8bqkiFoZBh4ljV08IosGMw1Wr4a1glkrtue38qKQdxzy15VpJyMJlKFXdvX92Fx-OHz-zkfbmPgRii_4WlSiDzHZBaaMEIYiHOBUb7RmOALmwpECgZnhzJQpaaBHWlCE1pLm4ZxmZciOoBJVVf2IbAwD0uLpRIlcyG1VjjPiASBqrWBXxjhge88k5lBqpxuzFhljpP2LUNnZuRMMqEzPXgzVjnrdTouKhw6d2fuACpOmRlmkYsqibHSgE561HFZtRfo2fGbSM17PvuUkc15-zzw4LkLtwyHN-3Z5JWt2y22JLt7hNLUgwd9HI5tIZKQtPz24O0YmJd3_tGVSj-GfXrqCTxPYNJsWvsUYVijnw1D7zf6wyt8
openUrl	ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=The+2018+version+of+the+gene+table+of+monogenic+neuromuscular+disorders+%28nuclear+genome%29&rft.jtitle=Neuromuscular+disorders+%3A+NMD&rft.au=Bonne%2C+Gis%C3%A8le&rft.au=Rivier%2C+Fran%C3%A7ois&rft.au=Hamroun%2C+Dalil&rft.date=2017-12-01&rft.eissn=1873-2364&rft.volume=27&rft.issue=12&rft.spage=1152&rft_id=info:doi/10.1016%2Fj.nmd.2017.10.005&rft_id=info%3Apmid%2F29961566&rft.externalDocID=29961566
thumbnail_l	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0960-8966&client=summon
thumbnail_m	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0960-8966&client=summon
thumbnail_s	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0960-8966&client=summon