Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
Tags
Data and Resources
To access the resources you must log in
This item has no data
Item URL
http://data.d4science.org/ctlg/RISIS2OpenData/dedup_wf_001--7dc439ef3ac78a11cc5b77a961671cfb |
|
Identity
Access Modality
Field | Value |
---|---|
Access Right | Open Access |
Attribution
Field | Value |
---|---|
Author | Walter Sanseverino, 0000-0003-3324-5912 |
Author | Federica Morani, 0000-0002-4903-6878 |
Author | DONATI MARIA ALICE, 0000-0003-4769-5025 |
Author | Michele Pinelli, 0000-0002-5927-1185 |
Author | Alessandro Romano, 0000-0003-2766-8847 |
Author | Annalaura Torella, 0000-0003-2479-6018 |
Author | Filippo M Santorelli, 0000-0002-1359-9062 |
Author | Guja Astrea, 0000-0001-8588-0323 |
Author | Chiara Fiorillo, 0000-0001-9027-343X |
Author | roberta battini, 0000-0002-7889-1355 |
Author | Carmelo RODOLICO, 0000-0003-2543-6356 |
Author | Mora M, 0000-0002-5765-2320 |
Author | Eugenio Mercuri, 0000-0002-9851-5365 |
Author | Francesco Mari, 0000-0001-6914-5812 |
Author | Anna Rubegni, 0000-0002-0484-3799 |
Author | Marco Savarese, 0000-0002-2591-244X |
Author | angela berardinelli, 0000-0002-4645-8055 |
Author | denise cassandrini, 0000-0002-3556-8638 |
Author | Marika Pane, 0000-0002-4851-6124 |
Publishing
Field | Value |
---|---|
Collected From | HELDA - Digital Repository of the University of Helsinki; ORCID; Datacite; Microsoft Academic Graph; Europe PubMed Central; Archivio della Ricerca - Università di Roma Tor vergata; Archivio della Ricerca - Università di Pisa; Archivio istituzionale della ricerca - Università di Genova; PubMed Central; UnpayWall; DOAJ-Articles; Crossref; Usiena air - Università di Siena; Archivio Istituzionale della Ricerca - Università degli Studi della Campania "Luigi Vanvitelli" |
Hosted By | Europe PubMed Central; Archivio della Ricerca - Università di Roma Tor vergata; HELDA - Digital Repository of the University of Helsinki; Archivio della Ricerca - Università di Pisa; Archivio istituzionale della ricerca - Università di Genova; Orphanet Journal of Rare Diseases; Usiena air - Università di Siena; Archivio Istituzionale della Ricerca - Università degli Studi della Campania "Luigi Vanvitelli" |
Publication Date | 2018-09-26 |
Publisher | BioMed Central |
Additional Info
Field | Value |
---|---|
Country | Finland; Italy |
Format | 9 |
Language | English |
Resource Type | Other literature type; Article; UNKNOWN |
keyword | Congenital muscular dystrophy; Dystroglycanopathies; GMPPB; Genotype-phenotype correlations; Limb-girdle muscular dystrophy |
keyword | Muscular Dystrophies, Limb-Girdle |
keyword | Mutation, Missense |
keyword | Congenital muscular dystrophy; Dystroglycanopathies; Genotype-phenotype correlations; GMPPB; Limb-girdle muscular dystrophy; Genetics _clinical_; Pharmacology _medical_ |
keyword | R |
keyword | Congenital muscular dystrophy, Dystroglycanopathies, Genotype-phenotype correlations, GMPPB, Limb-girdle muscular dystrophy, Genetics _clinical_, Pharmacology _medical_ |
keyword | 1184 Genetics, developmental biology, physiology |
system:type | publication |
Management Info
Field | Value |
---|---|
Source | https://science-innovation-policy.openaire.eu/search/publication?articleId=dedup_wf_001::7dc439ef3ac78a11cc5b77a961671cfb |
Author | jsonws_user |
Last Updated | 26 December 2020, 21:08 (CET) |
Created | 26 December 2020, 21:08 (CET) |