{"id":"https://openalex.org/W4372272063","doi":"https://doi.org/10.3233/jnd-230018","title":"Muscle Ultrasound Abnormalities in Individuals with RYR1 -Related Malignant Hyperthermia Susceptibility","display_name":"Muscle Ultrasound Abnormalities in Individuals with RYR1 -Related Malignant Hyperthermia Susceptibility","publication_year":2023,"publication_date":"2023-05-02","ids":{"openalex":"https://openalex.org/W4372272063","doi":"https://doi.org/10.3233/jnd-230018","pmid":"https://pubmed.ncbi.nlm.nih.gov/37154182","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/10357171"},"language":"en","primary_location":{"id":"doi:10.3233/jnd-230018","doi":"https://doi.org/10.3233/jnd-230018","is_oa":true,"landing_page_url":"https://doi.org/10.3233/jnd-230018","pdf_url":"https://content.iospress.com:443/download/journal-of-neuromuscular-diseases/jnd230018?id=journal-of-neuromuscular-diseases%2Fjnd230018","source":{"id":"https://openalex.org/S2764513568","display_name":"Journal of Neuromuscular Diseases","issn_l":"2214-3599","issn":["2214-3599","2214-3602"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neuromuscular Diseases","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://content.iospress.com:443/download/journal-of-neuromuscular-diseases/jnd230018?id=journal-of-neuromuscular-diseases%2Fjnd230018","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5006750750","display_name":"Luuk R. van den Bersselaar","orcid":"https://orcid.org/0000-0001-7735-3267","observed_orcids":["https://orcid.org/0000-0001-7735-3267"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4210113935","display_name":"Canisius-Wilhelmina Ziekenhuis","ror":"https://ror.org/027vts844","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210113935"]},{"id":"https://openalex.org/I4405261313","display_name":"Donders Institute for Brain, Cognition and Behaviour","ror":"https://ror.org/053sba816","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Luuk R. van den Bersselaar","raw_affiliation_strings":["Department of Anesthesiology, Malignant Hyperthermia Investigation Unit, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands","Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institutefor Brain, Cognition and Behaviour, Radboud University MedicalCenter, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anesthesiology, Malignant Hyperthermia Investigation Unit, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I4210113935"]},{"raw_affiliation_string":"Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institutefor Brain, Cognition and Behaviour, Radboud University MedicalCenter, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949","https://openalex.org/I4405261313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090460997","display_name":"Nens van Alfen","orcid":"https://orcid.org/0000-0001-7839-8125","observed_orcids":["https://orcid.org/0000-0001-7839-8125"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4405261313","display_name":"Donders Institute for Brain, Cognition and Behaviour","ror":"https://ror.org/053sba816","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Nens van Alfen","raw_affiliation_strings":["Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institutefor Brain, Cognition and Behaviour, Radboud University MedicalCenter, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institutefor Brain, Cognition and Behaviour, Radboud University MedicalCenter, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949","https://openalex.org/I4405261313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033889158","display_name":"Nick Kruijt","orcid":"https://orcid.org/0000-0001-8935-6772","observed_orcids":["https://orcid.org/0000-0001-8935-6772"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4405261313","display_name":"Donders Institute for Brain, Cognition and Behaviour","ror":"https://ror.org/053sba816","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Nick Kruijt","raw_affiliation_strings":["Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institutefor Brain, Cognition and Behaviour, Radboud University MedicalCenter, Nijmegen, The Netherlands","Department of Primary and Community Care, Radboudumc, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institutefor Brain, Cognition and Behaviour, Radboud University MedicalCenter, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949","https://openalex.org/I4405261313"]},{"raw_affiliation_string":"Department of Primary and Community Care, Radboudumc, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087332579","display_name":"Erik\u2010Jan Kamsteeg","orcid":"https://orcid.org/0000-0001-6480-1892","observed_orcids":["https://orcid.org/0000-0001-6480-1892"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Erik-Jan Kamsteeg","raw_affiliation_strings":["Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Miguel A. Fernandez-Garcia","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I125671874","display_name":"National Health Service","ror":"https://ror.org/02wnqcb97","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I125671874","https://openalex.org/I1311074006"]},{"id":"https://openalex.org/I1324925910","display_name":"St Thomas' Hospital","ror":"https://ror.org/054gk2851","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1324925910","https://openalex.org/I200166805","https://openalex.org/I4210111135"]},{"id":"https://openalex.org/I200166805","display_name":"Guy's and St Thomas' NHS Foundation Trust","ror":"https://ror.org/00j161312","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200166805"]},{"id":"https://openalex.org/I4210144851","display_name":"Evelina London Children's Healthcare","ror":"https://ror.org/058pgtg13","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200166805","https://openalex.org/I4210144851"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Miguel A. Fernandez-Garcia","raw_affiliation_strings":["Department of Paediatric Neurology, Neuromuscular Service, Evelina Children\u2019s Hospital, Guy\u2019s and St Thomas\u2019 Hospital NHS Foundation Trust, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Neurology, Neuromuscular Service, Evelina Children\u2019s Hospital, Guy\u2019s and St Thomas\u2019 Hospital NHS Foundation Trust, London, UK","institution_ids":["https://openalex.org/I125671874","https://openalex.org/I1324925910","https://openalex.org/I200166805","https://openalex.org/I4210144851"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030835200","display_name":"Susan Treves","orcid":"https://orcid.org/0000-0002-0007-9631","observed_orcids":["https://orcid.org/0000-0002-0007-9631"]},"institutions":[{"id":"https://openalex.org/I2802542264","display_name":"University Hospital of Basel","ror":"https://ror.org/04k51q396","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I2802542264"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Susan Treves","raw_affiliation_strings":["Departments of Biomedicine and Neurology, Neuromuscular research Group, University Hospital Basel, Basel, Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Biomedicine and Neurology, Neuromuscular research Group, University Hospital Basel, Basel, Switzerland","institution_ids":["https://openalex.org/I2802542264"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016497325","display_name":"Sheila Riazi","orcid":"https://orcid.org/0000-0002-0670-1516","observed_orcids":["https://orcid.org/0000-0002-0670-1516"]},"institutions":[{"id":"https://openalex.org/I1325899441","display_name":"University Health Network","ror":"https://ror.org/042xt5161","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1325899441"]},{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Sheila Riazi","raw_affiliation_strings":["Department of Anesthesia, Malignant Hyperthermia Investigation Unit, University Health Network, University of Toronto, Toronto, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anesthesia, Malignant Hyperthermia Investigation Unit, University Health Network, University of Toronto, Toronto, Canada","institution_ids":["https://openalex.org/I1325899441","https://openalex.org/I185261750"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000742997","display_name":"Chu-Ya Yang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210113935","display_name":"Canisius-Wilhelmina Ziekenhuis","ror":"https://ror.org/027vts844","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210113935"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Chu-Ya Yang","raw_affiliation_strings":["Department of Anesthesiology, Malignant Hyperthermia Investigation Unit, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anesthesiology, Malignant Hyperthermia Investigation Unit, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I4210113935"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080936721","display_name":"Ignacio LMC Malagon","orcid":"https://orcid.org/0000-0002-2739-8667","observed_orcids":["https://orcid.org/0000-0002-2739-8667"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Ignacio Malagon","raw_affiliation_strings":["Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027651871","display_name":"Lucas Theodorus van Eijk","orcid":"https://orcid.org/0000-0003-4141-3701","observed_orcids":["https://orcid.org/0000-0003-4141-3701"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Lucas T. van Eijk","raw_affiliation_strings":["Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072004949","display_name":"Baziel G.M. van Engelen","orcid":"https://orcid.org/0000-0001-9867-9047","observed_orcids":["https://orcid.org/0000-0001-9867-9047"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4405261313","display_name":"Donders Institute for Brain, Cognition and Behaviour","ror":"https://ror.org/053sba816","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Baziel G.M. van Engelen","raw_affiliation_strings":["Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institutefor Brain, Cognition and Behaviour, Radboud University MedicalCenter, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institutefor Brain, Cognition and Behaviour, Radboud University MedicalCenter, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949","https://openalex.org/I4405261313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112729526","display_name":"Gert\u2010Jan Scheffer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Gert-Jan Scheffer","raw_affiliation_strings":["Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031997713","display_name":"Heinz Jungbluth","orcid":"https://orcid.org/0000-0002-7159-3427","observed_orcids":["https://orcid.org/0000-0002-7159-3427","https://orcid.org/0000-0003-3255-5644"]},"institutions":[{"id":"https://openalex.org/I125671874","display_name":"National Health Service","ror":"https://ror.org/02wnqcb97","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I125671874","https://openalex.org/I1311074006"]},{"id":"https://openalex.org/I1324925910","display_name":"St Thomas' Hospital","ror":"https://ror.org/054gk2851","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1324925910","https://openalex.org/I200166805","https://openalex.org/I4210111135"]},{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]},{"id":"https://openalex.org/I200166805","display_name":"Guy's and St Thomas' NHS Foundation Trust","ror":"https://ror.org/00j161312","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200166805"]},{"id":"https://openalex.org/I4210144851","display_name":"Evelina London Children's Healthcare","ror":"https://ror.org/058pgtg13","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200166805","https://openalex.org/I4210144851"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Heinz Jungbluth","raw_affiliation_strings":["Department of Paediatric Neurology, Neuromuscular Service, Evelina Children\u2019s Hospital, Guy\u2019s and St Thomas\u2019 Hospital NHS Foundation Trust, London, UK","Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine, King\u2019s College, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Neurology, Neuromuscular Service, Evelina Children\u2019s Hospital, Guy\u2019s and St Thomas\u2019 Hospital NHS Foundation Trust, London, UK","institution_ids":["https://openalex.org/I125671874","https://openalex.org/I1324925910","https://openalex.org/I200166805","https://openalex.org/I4210144851"]},{"raw_affiliation_string":"Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine, King\u2019s College, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037012363","display_name":"Marc M. J. Snoeck","orcid":"https://orcid.org/0000-0003-4125-6187","observed_orcids":["https://orcid.org/0000-0003-4125-6187"]},"institutions":[{"id":"https://openalex.org/I4210113935","display_name":"Canisius-Wilhelmina Ziekenhuis","ror":"https://ror.org/027vts844","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210113935"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Marc M.J. Snoeck","raw_affiliation_strings":["Department of Anesthesiology, Malignant Hyperthermia Investigation Unit, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anesthesiology, Malignant Hyperthermia Investigation Unit, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I4210113935"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012105654","display_name":"Nicol Cornelia Voermans","orcid":"https://orcid.org/0000-0002-5837-7295","observed_orcids":["https://orcid.org/0000-0002-5837-7295"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4405261313","display_name":"Donders Institute for Brain, Cognition and Behaviour","ror":"https://ror.org/053sba816","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Nicol C. Voermans","raw_affiliation_strings":["Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institutefor Brain, Cognition and Behaviour, Radboud University MedicalCenter, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institutefor Brain, Cognition and Behaviour, Radboud University MedicalCenter, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949","https://openalex.org/I4405261313"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5006750750"],"corresponding_institution_ids":["https://openalex.org/I2802934949","https://openalex.org/I4210113935","https://openalex.org/I4405261313"],"apc_list":null,"apc_paid":null,"fwci":0.6179,"has_fulltext":true,"cited_by_count":8,"citation_normalized_percentile":{"value":0.58362004,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":98},"biblio":{"volume":"10","issue":"4","first_page":"541","last_page":"554"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.5723000168800354,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.5723000168800354,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.2151000052690506,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.056299999356269836,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/ryr1","display_name":"RyR1","score":0.925000011920929},{"id":"https://openalex.org/keywords/malignant-hyperthermia-susceptibility","display_name":"malignant hyperthermia susceptibility","score":0.8970000147819519},{"id":"https://openalex.org/keywords/muscle-hypertrophy","display_name":"muscle hypertrophy","score":0.9869999885559082},{"id":"https://openalex.org/keywords/gain-of-function-mutations","display_name":"gain-of-function mutations","score":0.7910000085830688},{"id":"https://openalex.org/keywords/neuromuscular-disorders","display_name":"neuromuscular disorders","score":0.7570000290870667},{"id":"https://openalex.org/keywords/muscle-echogenicity","display_name":"muscle echogenicity","score":0.7860000133514404},{"id":"https://openalex.org/keywords/biceps-brachii","display_name":"biceps brachii","score":0.8429999947547913},{"id":"https://openalex.org/keywords/biceps-femoris","display_name":"biceps femoris","score":0.8799999952316284},{"id":"https://openalex.org/keywords/deltoid-muscle","display_name":"deltoid muscle","score":0.9879999756813049},{"id":"https://openalex.org/keywords/trapezius-muscle","display_name":"trapezius","score":0.9440000057220459},{"id":"https://openalex.org/keywords/asymptomatic-carriers","display_name":"asymptomatic carriers","score":0.43799999356269836}],"concepts":[{"id":"https://openalex.org/C2776333580","wikidata":"https://www.wikidata.org/wiki/Q18031340","display_name":"RYR1","level":4,"score":0.9085557460784912},{"id":"https://openalex.org/C2778575482","wikidata":"https://www.wikidata.org/wiki/Q1585081","display_name":"Malignant hyperthermia","level":2,"score":0.8834773302078247},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7670691609382629},{"id":"https://openalex.org/C143753070","wikidata":"https://www.wikidata.org/wiki/Q162564","display_name":"Ultrasound","level":2,"score":0.5210127830505371},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.31110119819641113},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3064178228378296},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.18080750107765198},{"id":"https://openalex.org/C113217602","wikidata":"https://www.wikidata.org/wiki/Q416781","display_name":"Ryanodine receptor","level":3,"score":0.08421927690505981},{"id":"https://openalex.org/C519063684","wikidata":"https://www.wikidata.org/wiki/Q706","display_name":"Calcium","level":2,"score":0.050955355167388916}],"mesh":[{"descriptor_ui":"D003430","descriptor_name":"Cross-Sectional Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008305","descriptor_name":"Malignant Hyperthermia","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D008305","descriptor_name":"Malignant Hyperthermia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D008305","descriptor_name":"Malignant Hyperthermia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011446","descriptor_name":"Prospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014463","descriptor_name":"Ultrasonography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D019837","descriptor_name":"Ryanodine Receptor Calcium Release Channel","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.3233/jnd-230018","doi":"https://doi.org/10.3233/jnd-230018","is_oa":true,"landing_page_url":"https://doi.org/10.3233/jnd-230018","pdf_url":"https://content.iospress.com:443/download/journal-of-neuromuscular-diseases/jnd230018?id=journal-of-neuromuscular-diseases%2Fjnd230018","source":{"id":"https://openalex.org/S2764513568","display_name":"Journal of Neuromuscular Diseases","issn_l":"2214-3599","issn":["2214-3599","2214-3602"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neuromuscular Diseases","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:10357171","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10357171","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10357171/pdf/jnd-10-jnd230018.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Neuromuscul Dis","raw_type":"Text"},{"id":"pmid:37154182","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37154182","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of neuromuscular diseases","raw_type":"Journal Article"},{"id":"pmh:oai:repository.ubn.ru.nl:2066/294774","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2066/294774","pdf_url":"https://repository.ubn.ru.nl/bitstream/handle/2066/294774/1/294774.pdf","source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article / Letter to editor"},{"id":"pmh:oai:kclpure.kcl.ac.uk:openaire/604ee898-9324-4280-b2c2-43842aa28f90","doi":null,"is_oa":true,"landing_page_url":"https://kclpure.kcl.ac.uk/portal/en/publications/604ee898-9324-4280-b2c2-43842aa28f90","pdf_url":null,"source":{"id":"https://openalex.org/S4306400216","display_name":"Research Portal (King's College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I183935753","host_organization_name":"King's College London","host_organization_lineage":["https://openalex.org/I183935753"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Van Den Bersselaar, L R, Van Alfen, N, Kruijt, N, Kamsteeg, E J, Fernandez-Garcia, M A, Treves, S, Riazi, S, Yang, C Y, Malagon, I, Van Eijk, L T, Van Engelen, B G M, Scheffer, G J, Jungbluth, H, Snoeck, M M J & Voermans, N C 2023, 'Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility', Journal of Neuromuscular Diseases, vol. 10, no. 4, pp. 541-554. https://doi.org/10.3233/JND-230018","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.3233/jnd-230018","doi":"https://doi.org/10.3233/jnd-230018","is_oa":true,"landing_page_url":"https://doi.org/10.3233/jnd-230018","pdf_url":"https://content.iospress.com:443/download/journal-of-neuromuscular-diseases/jnd230018?id=journal-of-neuromuscular-diseases%2Fjnd230018","source":{"id":"https://openalex.org/S2764513568","display_name":"Journal of Neuromuscular Diseases","issn_l":"2214-3599","issn":["2214-3599","2214-3602"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neuromuscular Diseases","raw_type":"journal-article"},"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320323698","display_name":"Radboud Universitair Medisch Centrum","ror":"https://ror.org/05wg1m734"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4372272063.pdf","grobid_xml":"https://content.openalex.org/works/W4372272063.grobid-xml"},"referenced_works_count":44,"referenced_works":["https://openalex.org/W1528476281","https://openalex.org/W1884824544","https://openalex.org/W1901419121","https://openalex.org/W1976843038","https://openalex.org/W1982218830","https://openalex.org/W1985025225","https://openalex.org/W1990679922","https://openalex.org/W1997642926","https://openalex.org/W2025964576","https://openalex.org/W2034044880","https://openalex.org/W2050236019","https://openalex.org/W2072026981","https://openalex.org/W2112906555","https://openalex.org/W2114295328","https://openalex.org/W2139746402","https://openalex.org/W2146587884","https://openalex.org/W2160249058","https://openalex.org/W2171129594","https://openalex.org/W2427197249","https://openalex.org/W2466516482","https://openalex.org/W2517340925","https://openalex.org/W2521967673","https://openalex.org/W2571433501","https://openalex.org/W2780313299","https://openalex.org/W2787055137","https://openalex.org/W2891575876","https://openalex.org/W2893598489","https://openalex.org/W2900008238","https://openalex.org/W2915848125","https://openalex.org/W3029661147","https://openalex.org/W3087837216","https://openalex.org/W3092040384","https://openalex.org/W3135157901","https://openalex.org/W3138505755","https://openalex.org/W3188079665","https://openalex.org/W3195622434","https://openalex.org/W3196616377","https://openalex.org/W4213448778","https://openalex.org/W4220720592","https://openalex.org/W4248197639","https://openalex.org/W4283460620","https://openalex.org/W4302283521","https://openalex.org/W4308884635","https://openalex.org/W4309463764"],"related_works":["https://openalex.org/W2511247265","https://openalex.org/W6992682611","https://openalex.org/W3195622434","https://openalex.org/W2035808268","https://openalex.org/W1997314128","https://openalex.org/W4406973726","https://openalex.org/W4416928711","https://openalex.org/W4387643561","https://openalex.org/W2025003078","https://openalex.org/W2325217538"],"abstract_inverted_index":{"BACKGROUND:":[0],"Variants":[1],"in":[2,26,56,94,275],"RYR1,":[3],"the":[4,7,45,71,75,197,218,250],"gene":[5],"encoding":[6],"ryanodine":[8],"receptor-1,":[9],"can":[10],"give":[11],"rise":[12],"to":[13,67,69,133,139,196,265],"a":[14,32,87,97,109,116,126,140,162,172],"wide":[15],"spectrum":[16],"of":[17,29,34,49,99,112,149,180,188,199,208,217,252],"neuromuscular":[18,113,144],"conditions.":[19],"Muscle":[20,120],"imaging":[21],"abnormalities":[22,52,287],"have":[23,279],"been":[24],"demonstrated":[25],"isolated":[27],"cases":[28],"patients":[30,57,95,152,182,201],"with":[31,63,96,183,202,271],"history":[33,98,111],"RYR1-related":[35,100],"malignant":[36],"hyperthermia":[37],"(MH)":[38],"susceptibility.":[39],"OBJECTIVE:":[40],"To":[41],"provide":[42],"insights":[43],"into":[44],"type":[46],"and":[47,53,66,78,115,128,131,136,168,249,291],"prevalence":[48],"muscle":[50,54,91,117,156,164,174,280,285,289],"ultrasound":[51,92,118,121,157,165,175,205,281,286],"hypertrophy":[55,290],"carrying":[58],"gain-of-function":[59],"RYR1":[60,272],"variants":[61,273],"associated":[62],"MH":[64,81,101,276],"susceptibility":[65,102,277],"contribute":[68],"delineating":[70],"wider":[72],"phenotype,":[73],"optimizing":[74],"diagnostic":[76],"work-up":[77],"care":[79],"for":[80,143],"susceptible":[82],"patients.":[83],"METHODS:":[84],"We":[85],"performed":[86],"prospective":[88],"cross-sectional":[89],"observational":[90],"study":[93],"(n":[103],"=":[104,212,222,230,233,237,240,244,247,256],"40).":[105],"Study":[106],"procedures":[107],"included":[108],"standardized":[110],"symptoms":[114],"assessment.":[119],"images":[122],"were":[123,261],"analyzed":[124],"using":[125],"quantitative":[127],"qualitative":[129],"approach":[130],"compared":[132,195,264],"reference":[134],"values":[135],"subsequently":[137],"subjected":[138],"screening":[141,166,176],"protocol":[142],"disorders.":[145],"RESULTS:":[146],"A":[147],"total":[148],"15":[150],"(38%)":[151],"had":[153,161,171],"an":[154,184,203],"abnormal":[155,185,204],"result,":[158,167],"4":[159],"(10%)":[160],"borderline":[163],"21":[169],"(53%)":[170],"normal":[173],"result.":[177],"The":[178,214],"proportion":[179,198],"symptomatic":[181],"result":[186,206],"(11":[187],"24;":[189],"46%)":[190],"was":[191],"not":[192],"significantly":[193,262],"higher":[194,263],"asymptomatic":[200],"(4":[207],"16;":[209],"25%)":[210],"(P":[211],"0.182).":[213],"mean":[215],"z-scores":[216],"biceps":[219,227],"brachii":[220],"(z":[221,229,236,243,255],"1.45;":[223],"P":[224,232,239,246,258],"<":[225,259],"0.001),":[226],"femoris":[228],"0.43;":[231],"0.002),":[234],"deltoid":[235],"0.31;":[238],"0.009),":[241],"trapezius":[242],"0.38;":[245],"0.010)":[248],"sum":[251],"all":[253],"muscles":[254],"0.40;":[257],"0.001)":[260],"0,":[266],"indicating":[267],"hypertrophy.":[268],"CONCLUSIONS:":[269],"Patients":[270],"resulting":[274],"often":[278],"abnormalities.":[282],"Frequently":[283],"observed":[284],"include":[288],"increased":[292],"echogenicity.":[293]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":2}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2023-05-07T00:00:00"}