GNE myopathy: from clinics and genetics to pathology and research strategies Article Swipe
Oksana Pogoryelova
,
José Andrés González Coraspe
,
Nikoletta Nikolenko
,
Hanns Lochmüller
,
Andreas Roos
·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1186/s13023-018-0802-x
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1186/s13023-018-0802-x
Related Topics
Concepts
Metadata
- Type
- review
- Language
- en
- Landing Page
- https://doi.org/10.1186/s13023-018-0802-x
- https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-018-0802-x
- OA Status
- gold
- Cited By
- 62
- References
- 81
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2805147104
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2805147104Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1186/s13023-018-0802-xDigital Object Identifier
- Title
-
GNE myopathy: from clinics and genetics to pathology and research strategiesWork title
- Type
-
reviewOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2018Year of publication
- Publication date
-
2018-05-02Full publication date if available
- Authors
-
Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas RoosList of authors in order
- Landing page
-
https://doi.org/10.1186/s13023-018-0802-xPublisher landing page
- PDF URL
-
https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-018-0802-xDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-018-0802-xDirect OA link when available
- Concepts
-
Myopathy, Weakness, Medicine, Disease, Human genetics, Clinical trial, Bioinformatics, Physical medicine and rehabilitation, Pathology, Intensive care medicine, Genetics, Biology, Gene, SurgeryTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
62Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 9, 2024: 13, 2023: 11, 2022: 8, 2021: 9Per-year citation counts (last 5 years)
- References (count)
-
81Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W2805147104 |
|---|---|
| doi | https://doi.org/10.1186/s13023-018-0802-x |
| ids.doi | https://doi.org/10.1186/s13023-018-0802-x |
| ids.mag | 2805147104 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/29720219 |
| ids.openalex | https://openalex.org/W2805147104 |
| fwci | 4.27682489 |
| mesh[0].qualifier_ui | |
| mesh[0].descriptor_ui | D000818 |
| mesh[0].is_major_topic | False |
| mesh[0].qualifier_name | |
| mesh[0].descriptor_name | Animals |
| mesh[1].qualifier_ui | Q000188 |
| mesh[1].descriptor_ui | D049310 |
| mesh[1].is_major_topic | False |
| mesh[1].qualifier_name | drug therapy |
| mesh[1].descriptor_name | Distal Myopathies |
| mesh[2].qualifier_ui | Q000235 |
| mesh[2].descriptor_ui | D049310 |
| mesh[2].is_major_topic | False |
| mesh[2].qualifier_name | genetics |
| mesh[2].descriptor_name | Distal Myopathies |
| mesh[3].qualifier_ui | Q000473 |
| mesh[3].descriptor_ui | D049310 |
| mesh[3].is_major_topic | False |
| mesh[3].qualifier_name | pathology |
| mesh[3].descriptor_name | Distal Myopathies |
| mesh[4].qualifier_ui | |
| mesh[4].descriptor_ui | D006801 |
| mesh[4].is_major_topic | False |
| mesh[4].qualifier_name | |
| mesh[4].descriptor_name | Humans |
| mesh[5].qualifier_ui | Q000188 |
| mesh[5].descriptor_ui | D018908 |
| mesh[5].is_major_topic | False |
| mesh[5].qualifier_name | drug therapy |
| mesh[5].descriptor_name | Muscle Weakness |
| mesh[6].qualifier_ui | Q000235 |
| mesh[6].descriptor_ui | D018908 |
| mesh[6].is_major_topic | False |
| mesh[6].qualifier_name | genetics |
| mesh[6].descriptor_name | Muscle Weakness |
| mesh[7].qualifier_ui | Q000473 |
| mesh[7].descriptor_ui | D018908 |
| mesh[7].is_major_topic | False |
| mesh[7].qualifier_name | pathology |
| mesh[7].descriptor_name | Muscle Weakness |
| mesh[8].qualifier_ui | Q000187 |
| mesh[8].descriptor_ui | D018482 |
| mesh[8].is_major_topic | False |
| mesh[8].qualifier_name | drug effects |
| mesh[8].descriptor_name | Muscle, Skeletal |
| mesh[9].qualifier_ui | Q000378 |
| mesh[9].descriptor_ui | D018482 |
| mesh[9].is_major_topic | False |
| mesh[9].qualifier_name | metabolism |
| mesh[9].descriptor_name | Muscle, Skeletal |
| mesh[10].qualifier_ui | Q000473 |
| mesh[10].descriptor_ui | D018482 |
| mesh[10].is_major_topic | False |
| mesh[10].qualifier_name | pathology |
| mesh[10].descriptor_name | Muscle, Skeletal |
| mesh[11].qualifier_ui | Q000627 |
| mesh[11].descriptor_ui | D019158 |
| mesh[11].is_major_topic | False |
| mesh[11].qualifier_name | therapeutic use |
| mesh[11].descriptor_name | N-Acetylneuraminic Acid |
| mesh[12].qualifier_ui | |
| mesh[12].descriptor_ui | D012107 |
| mesh[12].is_major_topic | False |
| mesh[12].qualifier_name | |
| mesh[12].descriptor_name | Research Design |
| mesh[13].qualifier_ui | |
| mesh[13].descriptor_ui | D000818 |
| mesh[13].is_major_topic | False |
| mesh[13].qualifier_name | |
| mesh[13].descriptor_name | Animals |
| mesh[14].qualifier_ui | Q000188 |
| mesh[14].descriptor_ui | D049310 |
| mesh[14].is_major_topic | False |
| mesh[14].qualifier_name | drug therapy |
| mesh[14].descriptor_name | Distal Myopathies |
| mesh[15].qualifier_ui | Q000235 |
| mesh[15].descriptor_ui | D049310 |
| mesh[15].is_major_topic | False |
| mesh[15].qualifier_name | genetics |
| mesh[15].descriptor_name | Distal Myopathies |
| mesh[16].qualifier_ui | Q000473 |
| mesh[16].descriptor_ui | D049310 |
| mesh[16].is_major_topic | False |
| mesh[16].qualifier_name | pathology |
| mesh[16].descriptor_name | Distal Myopathies |
| mesh[17].qualifier_ui | |
| mesh[17].descriptor_ui | D006801 |
| mesh[17].is_major_topic | False |
| mesh[17].qualifier_name | |
| mesh[17].descriptor_name | Humans |
| mesh[18].qualifier_ui | Q000188 |
| mesh[18].descriptor_ui | D018908 |
| mesh[18].is_major_topic | False |
| mesh[18].qualifier_name | drug therapy |
| mesh[18].descriptor_name | Muscle Weakness |
| mesh[19].qualifier_ui | Q000235 |
| mesh[19].descriptor_ui | D018908 |
| mesh[19].is_major_topic | False |
| mesh[19].qualifier_name | genetics |
| mesh[19].descriptor_name | Muscle Weakness |
| mesh[20].qualifier_ui | Q000473 |
| mesh[20].descriptor_ui | D018908 |
| mesh[20].is_major_topic | False |
| mesh[20].qualifier_name | pathology |
| mesh[20].descriptor_name | Muscle Weakness |
| mesh[21].qualifier_ui | Q000187 |
| mesh[21].descriptor_ui | D018482 |
| mesh[21].is_major_topic | False |
| mesh[21].qualifier_name | drug effects |
| mesh[21].descriptor_name | Muscle, Skeletal |
| mesh[22].qualifier_ui | Q000378 |
| mesh[22].descriptor_ui | D018482 |
| mesh[22].is_major_topic | False |
| mesh[22].qualifier_name | metabolism |
| mesh[22].descriptor_name | Muscle, Skeletal |
| mesh[23].qualifier_ui | Q000473 |
| mesh[23].descriptor_ui | D018482 |
| mesh[23].is_major_topic | False |
| mesh[23].qualifier_name | pathology |
| mesh[23].descriptor_name | Muscle, Skeletal |
| mesh[24].qualifier_ui | Q000627 |
| mesh[24].descriptor_ui | D019158 |
| mesh[24].is_major_topic | False |
| mesh[24].qualifier_name | therapeutic use |
| mesh[24].descriptor_name | N-Acetylneuraminic Acid |
| mesh[25].qualifier_ui | |
| mesh[25].descriptor_ui | D012107 |
| mesh[25].is_major_topic | False |
| mesh[25].qualifier_name | |
| mesh[25].descriptor_name | Research Design |
| type | review |
| title | GNE myopathy: from clinics and genetics to pathology and research strategies |
| awards[0].id | https://openalex.org/G7009554975 |
| awards[0].funder_id | https://openalex.org/F4320333065 |
| awards[0].display_name | |
| awards[0].funder_award_id | 305444 (RD-Connect), 305121 (NeurOmics) |
| awards[0].funder_display_name | Seventh Framework Programme |
| biblio.issue | 1 |
| biblio.volume | 13 |
| biblio.last_page | 70 |
| biblio.first_page | 70 |
| topics[0].id | https://openalex.org/T11724 |
| topics[0].field.id | https://openalex.org/fields/27 |
| topics[0].field.display_name | Medicine |
| topics[0].score | 0.9993000030517578 |
| topics[0].domain.id | https://openalex.org/domains/4 |
| topics[0].domain.display_name | Health Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/2713 |
| topics[0].subfield.display_name | Epidemiology |
| topics[0].display_name | Inflammatory Myopathies and Dermatomyositis |
| topics[1].id | https://openalex.org/T10441 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9988999962806702 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1312 |
| topics[1].subfield.display_name | Molecular Biology |
| topics[1].display_name | Muscle Physiology and Disorders |
| topics[2].id | https://openalex.org/T10882 |
| topics[2].field.id | https://openalex.org/fields/27 |
| topics[2].field.display_name | Medicine |
| topics[2].score | 0.9987000226974487 |
| topics[2].domain.id | https://openalex.org/domains/4 |
| topics[2].domain.display_name | Health Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/2705 |
| topics[2].subfield.display_name | Cardiology and Cardiovascular Medicine |
| topics[2].display_name | Cardiomyopathy and Myosin Studies |
| funders[0].id | https://openalex.org/F4320325901 |
| funders[0].ror | |
| funders[0].display_name | Ministerium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-Westfalen |
| funders[1].id | https://openalex.org/F4320326309 |
| funders[1].ror | https://ror.org/02gk7n802 |
| funders[1].display_name | Deutsche Gesellschaft für Muskelkranke |
| funders[2].id | https://openalex.org/F4320333065 |
| funders[2].ror | |
| funders[2].display_name | Seventh Framework Programme |
| is_xpac | False |
| apc_list.value | 1870 |
| apc_list.currency | GBP |
| apc_list.value_usd | 2293 |
| apc_paid.value | 1870 |
| apc_paid.currency | GBP |
| apc_paid.value_usd | 2293 |
| concepts[0].id | https://openalex.org/C2777300911 |
| concepts[0].level | 2 |
| concepts[0].score | 0.877781867980957 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q692536 |
| concepts[0].display_name | Myopathy |
| concepts[1].id | https://openalex.org/C2780247198 |
| concepts[1].level | 2 |
| concepts[1].score | 0.5483943223953247 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q633403 |
| concepts[1].display_name | Weakness |
| concepts[2].id | https://openalex.org/C71924100 |
| concepts[2].level | 0 |
| concepts[2].score | 0.541823148727417 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[2].display_name | Medicine |
| concepts[3].id | https://openalex.org/C2779134260 |
| concepts[3].level | 2 |
| concepts[3].score | 0.49799656867980957 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q12136 |
| concepts[3].display_name | Disease |
| concepts[4].id | https://openalex.org/C47042493 |
| concepts[4].level | 3 |
| concepts[4].score | 0.4773005247116089 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q265799 |
| concepts[4].display_name | Human genetics |
| concepts[5].id | https://openalex.org/C535046627 |
| concepts[5].level | 2 |
| concepts[5].score | 0.4484883248806 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q30612 |
| concepts[5].display_name | Clinical trial |
| concepts[6].id | https://openalex.org/C60644358 |
| concepts[6].level | 1 |
| concepts[6].score | 0.3588387072086334 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q128570 |
| concepts[6].display_name | Bioinformatics |
| concepts[7].id | https://openalex.org/C99508421 |
| concepts[7].level | 1 |
| concepts[7].score | 0.3487224578857422 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q2678675 |
| concepts[7].display_name | Physical medicine and rehabilitation |
| concepts[8].id | https://openalex.org/C142724271 |
| concepts[8].level | 1 |
| concepts[8].score | 0.32093268632888794 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q7208 |
| concepts[8].display_name | Pathology |
| concepts[9].id | https://openalex.org/C177713679 |
| concepts[9].level | 1 |
| concepts[9].score | 0.32059359550476074 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q679690 |
| concepts[9].display_name | Intensive care medicine |
| concepts[10].id | https://openalex.org/C54355233 |
| concepts[10].level | 1 |
| concepts[10].score | 0.20735463500022888 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[10].display_name | Genetics |
| concepts[11].id | https://openalex.org/C86803240 |
| concepts[11].level | 0 |
| concepts[11].score | 0.2071310579776764 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[11].display_name | Biology |
| concepts[12].id | https://openalex.org/C104317684 |
| concepts[12].level | 2 |
| concepts[12].score | 0.12183299660682678 |
| concepts[12].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[12].display_name | Gene |
| concepts[13].id | https://openalex.org/C141071460 |
| concepts[13].level | 1 |
| concepts[13].score | 0.10950201749801636 |
| concepts[13].wikidata | https://www.wikidata.org/wiki/Q40821 |
| concepts[13].display_name | Surgery |
| keywords[0].id | https://openalex.org/keywords/myopathy |
| keywords[0].score | 0.877781867980957 |
| keywords[0].display_name | Myopathy |
| keywords[1].id | https://openalex.org/keywords/weakness |
| keywords[1].score | 0.5483943223953247 |
| keywords[1].display_name | Weakness |
| keywords[2].id | https://openalex.org/keywords/medicine |
| keywords[2].score | 0.541823148727417 |
| keywords[2].display_name | Medicine |
| keywords[3].id | https://openalex.org/keywords/disease |
| keywords[3].score | 0.49799656867980957 |
| keywords[3].display_name | Disease |
| keywords[4].id | https://openalex.org/keywords/human-genetics |
| keywords[4].score | 0.4773005247116089 |
| keywords[4].display_name | Human genetics |
| keywords[5].id | https://openalex.org/keywords/clinical-trial |
| keywords[5].score | 0.4484883248806 |
| keywords[5].display_name | Clinical trial |
| keywords[6].id | https://openalex.org/keywords/bioinformatics |
| keywords[6].score | 0.3588387072086334 |
| keywords[6].display_name | Bioinformatics |
| keywords[7].id | https://openalex.org/keywords/physical-medicine-and-rehabilitation |
| keywords[7].score | 0.3487224578857422 |
| keywords[7].display_name | Physical medicine and rehabilitation |
| keywords[8].id | https://openalex.org/keywords/pathology |
| keywords[8].score | 0.32093268632888794 |
| keywords[8].display_name | Pathology |
| keywords[9].id | https://openalex.org/keywords/intensive-care-medicine |
| keywords[9].score | 0.32059359550476074 |
| keywords[9].display_name | Intensive care medicine |
| keywords[10].id | https://openalex.org/keywords/genetics |
| keywords[10].score | 0.20735463500022888 |
| keywords[10].display_name | Genetics |
| keywords[11].id | https://openalex.org/keywords/biology |
| keywords[11].score | 0.2071310579776764 |
| keywords[11].display_name | Biology |
| keywords[12].id | https://openalex.org/keywords/gene |
| keywords[12].score | 0.12183299660682678 |
| keywords[12].display_name | Gene |
| keywords[13].id | https://openalex.org/keywords/surgery |
| keywords[13].score | 0.10950201749801636 |
| keywords[13].display_name | Surgery |
| language | en |
| locations[0].id | doi:10.1186/s13023-018-0802-x |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S71291065 |
| locations[0].source.issn | 1750-1172 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | True |
| locations[0].source.issn_l | 1750-1172 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | True |
| locations[0].source.display_name | Orphanet Journal of Rare Diseases |
| locations[0].source.host_organization | https://openalex.org/P4310320256 |
| locations[0].source.host_organization_name | BioMed Central |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310320256, https://openalex.org/P4310319965 |
| locations[0].source.host_organization_lineage_names | BioMed Central, Springer Nature |
| locations[0].license | |
| locations[0].pdf_url | https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-018-0802-x |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | Orphanet Journal of Rare Diseases |
| locations[0].landing_page_url | https://doi.org/10.1186/s13023-018-0802-x |
| locations[1].id | pmid:29720219 |
| locations[1].is_oa | False |
| locations[1].source.id | https://openalex.org/S4306525036 |
| locations[1].source.issn | |
| locations[1].source.type | repository |
| locations[1].source.is_oa | False |
| locations[1].source.issn_l | |
| locations[1].source.is_core | False |
| locations[1].source.is_in_doaj | False |
| locations[1].source.display_name | PubMed |
| locations[1].source.host_organization | https://openalex.org/I1299303238 |
| locations[1].source.host_organization_name | National Institutes of Health |
| locations[1].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[1].license | |
| locations[1].pdf_url | |
| locations[1].version | publishedVersion |
| locations[1].raw_type | |
| locations[1].license_id | |
| locations[1].is_accepted | True |
| locations[1].is_published | True |
| locations[1].raw_source_name | Orphanet journal of rare diseases |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/29720219 |
| locations[2].id | pmh:oai:doaj.org/article:b6b0fa616ada4142b7c10474f7d5b22c |
| locations[2].is_oa | True |
| locations[2].source.id | https://openalex.org/S4306401280 |
| locations[2].source.issn | |
| locations[2].source.type | repository |
| locations[2].source.is_oa | False |
| locations[2].source.issn_l | |
| locations[2].source.is_core | False |
| locations[2].source.is_in_doaj | False |
| locations[2].source.display_name | DOAJ (DOAJ: Directory of Open Access Journals) |
| locations[2].source.host_organization | |
| locations[2].source.host_organization_name | |
| locations[2].license | cc-by-sa |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | article |
| locations[2].license_id | https://openalex.org/licenses/cc-by-sa |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-15 (2018) |
| locations[2].landing_page_url | https://doaj.org/article/b6b0fa616ada4142b7c10474f7d5b22c |
| locations[3].id | pmh:oai:eprint.ncl.ac.uk:248355 |
| locations[3].is_oa | False |
| locations[3].source.id | https://openalex.org/S4306402485 |
| locations[3].source.issn | |
| locations[3].source.type | repository |
| locations[3].source.is_oa | False |
| locations[3].source.issn_l | |
| locations[3].source.is_core | False |
| locations[3].source.is_in_doaj | False |
| locations[3].source.display_name | Newcastle University ePrints (Newcastle Univesity) |
| locations[3].source.host_organization | https://openalex.org/I84884186 |
| locations[3].source.host_organization_name | Newcastle University |
| locations[3].source.host_organization_lineage | https://openalex.org/I84884186 |
| locations[3].license | |
| locations[3].pdf_url | |
| locations[3].version | submittedVersion |
| locations[3].raw_type | |
| locations[3].license_id | |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | |
| locations[3].landing_page_url | |
| locations[4].id | pmh:oai:europepmc.org:4859971 |
| locations[4].is_oa | True |
| locations[4].source.id | https://openalex.org/S4306400806 |
| locations[4].source.issn | |
| locations[4].source.type | repository |
| locations[4].source.is_oa | False |
| locations[4].source.issn_l | |
| locations[4].source.is_core | False |
| locations[4].source.is_in_doaj | False |
| locations[4].source.display_name | Europe PMC (PubMed Central) |
| locations[4].source.host_organization | https://openalex.org/I1303153112 |
| locations[4].source.host_organization_name | European Bioinformatics Institute |
| locations[4].source.host_organization_lineage | https://openalex.org/I1303153112 |
| locations[4].license | other-oa |
| locations[4].pdf_url | |
| locations[4].version | submittedVersion |
| locations[4].raw_type | Text |
| locations[4].license_id | https://openalex.org/licenses/other-oa |
| locations[4].is_accepted | False |
| locations[4].is_published | False |
| locations[4].raw_source_name | |
| locations[4].landing_page_url | http://europepmc.org/pmc/articles/PMC5930817 |
| locations[5].id | pmh:oai:pubmedcentral.nih.gov:5930817 |
| locations[5].is_oa | True |
| locations[5].source.id | https://openalex.org/S2764455111 |
| locations[5].source.issn | |
| locations[5].source.type | repository |
| locations[5].source.is_oa | False |
| locations[5].source.issn_l | |
| locations[5].source.is_core | False |
| locations[5].source.is_in_doaj | False |
| locations[5].source.display_name | PubMed Central |
| locations[5].source.host_organization | https://openalex.org/I1299303238 |
| locations[5].source.host_organization_name | National Institutes of Health |
| locations[5].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[5].license | other-oa |
| locations[5].pdf_url | |
| locations[5].version | submittedVersion |
| locations[5].raw_type | Text |
| locations[5].license_id | https://openalex.org/licenses/other-oa |
| locations[5].is_accepted | False |
| locations[5].is_published | False |
| locations[5].raw_source_name | Orphanet J Rare Dis |
| locations[5].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/5930817 |
| locations[6].id | pmh:oai:repositori.upf.edu:10230/43027 |
| locations[6].is_oa | True |
| locations[6].source.id | https://openalex.org/S4306402615 |
| locations[6].source.issn | |
| locations[6].source.type | repository |
| locations[6].source.is_oa | False |
| locations[6].source.issn_l | |
| locations[6].source.is_core | False |
| locations[6].source.is_in_doaj | False |
| locations[6].source.display_name | Repositori digital de la UPF (Universitat Pompeu Fabra) |
| locations[6].source.host_organization | https://openalex.org/I170486558 |
| locations[6].source.host_organization_name | Pompeu Fabra University |
| locations[6].source.host_organization_lineage | https://openalex.org/I170486558 |
| locations[6].license | cc-by |
| locations[6].pdf_url | |
| locations[6].version | submittedVersion |
| locations[6].raw_type | info:eu-repo/semantics/article |
| locations[6].license_id | https://openalex.org/licenses/cc-by |
| locations[6].is_accepted | False |
| locations[6].is_published | False |
| locations[6].raw_source_name | |
| locations[6].landing_page_url | http://hdl.handle.net/10230/43027 |
| indexed_in | crossref, doaj, pubmed |
| authorships[0].author.id | https://openalex.org/A5034260226 |
| authorships[0].author.orcid | |
| authorships[0].author.display_name | Oksana Pogoryelova |
| authorships[0].countries | GB |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I2802983449 |
| authorships[0].affiliations[0].raw_affiliation_string | Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK |
| authorships[0].institutions[0].id | https://openalex.org/I2802983449 |
| authorships[0].institutions[0].ror | https://ror.org/027tbp210 |
| authorships[0].institutions[0].type | other |
| authorships[0].institutions[0].lineage | https://openalex.org/I2802983449 |
| authorships[0].institutions[0].country_code | GB |
| authorships[0].institutions[0].display_name | Centre for Life |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Oksana Pogoryelova |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK |
| authorships[1].author.id | https://openalex.org/A5018066817 |
| authorships[1].author.orcid | |
| authorships[1].author.display_name | José Andrés González Coraspe |
| authorships[1].countries | GB |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I2802983449 |
| authorships[1].affiliations[0].raw_affiliation_string | Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK |
| authorships[1].institutions[0].id | https://openalex.org/I2802983449 |
| authorships[1].institutions[0].ror | https://ror.org/027tbp210 |
| authorships[1].institutions[0].type | other |
| authorships[1].institutions[0].lineage | https://openalex.org/I2802983449 |
| authorships[1].institutions[0].country_code | GB |
| authorships[1].institutions[0].display_name | Centre for Life |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | José Andrés González Coraspe |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK |
| authorships[2].author.id | https://openalex.org/A5005680420 |
| authorships[2].author.orcid | https://orcid.org/0000-0001-5769-0389 |
| authorships[2].author.display_name | Nikoletta Nikolenko |
| authorships[2].countries | GB |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I2802983449 |
| authorships[2].affiliations[0].raw_affiliation_string | Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK |
| authorships[2].institutions[0].id | https://openalex.org/I2802983449 |
| authorships[2].institutions[0].ror | https://ror.org/027tbp210 |
| authorships[2].institutions[0].type | other |
| authorships[2].institutions[0].lineage | https://openalex.org/I2802983449 |
| authorships[2].institutions[0].country_code | GB |
| authorships[2].institutions[0].display_name | Centre for Life |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Nikoletta Nikolenko |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK |
| authorships[3].author.id | https://openalex.org/A5062908694 |
| authorships[3].author.orcid | https://orcid.org/0000-0003-2324-8001 |
| authorships[3].author.display_name | Hanns Lochmüller |
| authorships[3].countries | GB |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I2802983449 |
| authorships[3].affiliations[0].raw_affiliation_string | Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK |
| authorships[3].institutions[0].id | https://openalex.org/I2802983449 |
| authorships[3].institutions[0].ror | https://ror.org/027tbp210 |
| authorships[3].institutions[0].type | other |
| authorships[3].institutions[0].lineage | https://openalex.org/I2802983449 |
| authorships[3].institutions[0].country_code | GB |
| authorships[3].institutions[0].display_name | Centre for Life |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Hanns Lochmüller |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK |
| authorships[4].author.id | https://openalex.org/A5056706108 |
| authorships[4].author.orcid | https://orcid.org/0000-0003-2833-0928 |
| authorships[4].author.display_name | Andreas Roos |
| authorships[4].countries | DE |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I4210121365 |
| authorships[4].affiliations[0].raw_affiliation_string | Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V, Biomedical Research Department, Otto-Hahn-Str. 6b, 44227, Dortmund, Germany |
| authorships[4].institutions[0].id | https://openalex.org/I4210121365 |
| authorships[4].institutions[0].ror | https://ror.org/02jhqqg57 |
| authorships[4].institutions[0].type | facility |
| authorships[4].institutions[0].lineage | https://openalex.org/I315704651, https://openalex.org/I4210121365 |
| authorships[4].institutions[0].country_code | DE |
| authorships[4].institutions[0].display_name | Leibniz Institute for Analytical Sciences - ISAS |
| authorships[4].author_position | last |
| authorships[4].raw_author_name | Andreas Roos |
| authorships[4].is_corresponding | True |
| authorships[4].raw_affiliation_strings | Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V, Biomedical Research Department, Otto-Hahn-Str. 6b, 44227, Dortmund, Germany |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-018-0802-x |
| open_access.oa_status | gold |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | GNE myopathy: from clinics and genetics to pathology and research strategies |
| has_fulltext | True |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T11724 |
| primary_topic.field.id | https://openalex.org/fields/27 |
| primary_topic.field.display_name | Medicine |
| primary_topic.score | 0.9993000030517578 |
| primary_topic.domain.id | https://openalex.org/domains/4 |
| primary_topic.domain.display_name | Health Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/2713 |
| primary_topic.subfield.display_name | Epidemiology |
| primary_topic.display_name | Inflammatory Myopathies and Dermatomyositis |
| related_works | https://openalex.org/W2126273490, https://openalex.org/W2407933599, https://openalex.org/W3102492965, https://openalex.org/W2008660898, https://openalex.org/W3201404068, https://openalex.org/W4399984290, https://openalex.org/W4401767932, https://openalex.org/W2025264634, https://openalex.org/W2519004496, https://openalex.org/W2184157980 |
| cited_by_count | 62 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 9 |
| counts_by_year[1].year | 2024 |
| counts_by_year[1].cited_by_count | 13 |
| counts_by_year[2].year | 2023 |
| counts_by_year[2].cited_by_count | 11 |
| counts_by_year[3].year | 2022 |
| counts_by_year[3].cited_by_count | 8 |
| counts_by_year[4].year | 2021 |
| counts_by_year[4].cited_by_count | 9 |
| counts_by_year[5].year | 2020 |
| counts_by_year[5].cited_by_count | 7 |
| counts_by_year[6].year | 2019 |
| counts_by_year[6].cited_by_count | 4 |
| counts_by_year[7].year | 2018 |
| counts_by_year[7].cited_by_count | 1 |
| locations_count | 7 |
| best_oa_location.id | doi:10.1186/s13023-018-0802-x |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S71291065 |
| best_oa_location.source.issn | 1750-1172 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | True |
| best_oa_location.source.issn_l | 1750-1172 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | True |
| best_oa_location.source.display_name | Orphanet Journal of Rare Diseases |
| best_oa_location.source.host_organization | https://openalex.org/P4310320256 |
| best_oa_location.source.host_organization_name | BioMed Central |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310320256, https://openalex.org/P4310319965 |
| best_oa_location.source.host_organization_lineage_names | BioMed Central, Springer Nature |
| best_oa_location.license | |
| best_oa_location.pdf_url | https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-018-0802-x |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | Orphanet Journal of Rare Diseases |
| best_oa_location.landing_page_url | https://doi.org/10.1186/s13023-018-0802-x |
| primary_location.id | doi:10.1186/s13023-018-0802-x |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S71291065 |
| primary_location.source.issn | 1750-1172 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | True |
| primary_location.source.issn_l | 1750-1172 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | True |
| primary_location.source.display_name | Orphanet Journal of Rare Diseases |
| primary_location.source.host_organization | https://openalex.org/P4310320256 |
| primary_location.source.host_organization_name | BioMed Central |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310320256, https://openalex.org/P4310319965 |
| primary_location.source.host_organization_lineage_names | BioMed Central, Springer Nature |
| primary_location.license | |
| primary_location.pdf_url | https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-018-0802-x |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | Orphanet Journal of Rare Diseases |
| primary_location.landing_page_url | https://doi.org/10.1186/s13023-018-0802-x |
| publication_date | 2018-05-02 |
| publication_year | 2018 |
| referenced_works | https://openalex.org/W2078042911, https://openalex.org/W1554390784, https://openalex.org/W2100788661, https://openalex.org/W2086281676, https://openalex.org/W2049857290, https://openalex.org/W2076807583, https://openalex.org/W2121748852, https://openalex.org/W2492561828, https://openalex.org/W1902166587, https://openalex.org/W1991449608, https://openalex.org/W2586732254, https://openalex.org/W2076099287, https://openalex.org/W2164279284, https://openalex.org/W2172161069, https://openalex.org/W2394759520, https://openalex.org/W2342299318, https://openalex.org/W2019351430, https://openalex.org/W1721517009, https://openalex.org/W1589626837, https://openalex.org/W2346466318, https://openalex.org/W2005251570, https://openalex.org/W2088055204, https://openalex.org/W2065759746, https://openalex.org/W2053512905, https://openalex.org/W2111748811, https://openalex.org/W2167290543, https://openalex.org/W2030436882, https://openalex.org/W2551843753, https://openalex.org/W2624948981, https://openalex.org/W1558466164, https://openalex.org/W2171456276, https://openalex.org/W1998474783, https://openalex.org/W1997893724, https://openalex.org/W1945511765, https://openalex.org/W2075766088, https://openalex.org/W2029341282, https://openalex.org/W2102703557, https://openalex.org/W2094527382, https://openalex.org/W2092093090, https://openalex.org/W2004911680, https://openalex.org/W2151319767, https://openalex.org/W277734681, https://openalex.org/W2075197751, https://openalex.org/W2154102058, https://openalex.org/W2057643731, https://openalex.org/W2069042382, https://openalex.org/W2294615578, https://openalex.org/W2236566071, https://openalex.org/W2082514641, https://openalex.org/W2046051811, https://openalex.org/W2036001062, https://openalex.org/W1555179992, https://openalex.org/W2326447562, https://openalex.org/W2139859512, https://openalex.org/W2317316573, https://openalex.org/W2153133997, https://openalex.org/W2605705086, https://openalex.org/W2144183733, https://openalex.org/W2145250227, https://openalex.org/W2171628897, https://openalex.org/W2027648652, https://openalex.org/W2029534449, https://openalex.org/W2139452287, https://openalex.org/W4232498783, https://openalex.org/W1982597607, https://openalex.org/W2033597553, https://openalex.org/W2612608989, https://openalex.org/W1975253275, https://openalex.org/W1985312405, https://openalex.org/W2065753615, https://openalex.org/W2062666445, https://openalex.org/W2119121583, https://openalex.org/W1977501583, https://openalex.org/W1979055602, https://openalex.org/W2594630384, https://openalex.org/W2569924285, https://openalex.org/W2019142417, https://openalex.org/W2273721533, https://openalex.org/W2158136973, https://openalex.org/W2151835917, https://openalex.org/W2152587278 |
| referenced_works_count | 81 |
| abstract_inverted_index | |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 90 |
| corresponding_author_ids | https://openalex.org/A5056706108 |
| countries_distinct_count | 2 |
| institutions_distinct_count | 5 |
| corresponding_institution_ids | https://openalex.org/I4210121365 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.5299999713897705 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.92870356 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |