{"id":"https://openalex.org/W3208183282","doi":"https://doi.org/10.3390/biom11111578","title":"Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children","display_name":"Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children","publication_year":2021,"publication_date":"2021-10-25","ids":{"openalex":"https://openalex.org/W3208183282","doi":"https://doi.org/10.3390/biom11111578","mag":"3208183282","pmid":"https://pubmed.ncbi.nlm.nih.gov/34827576","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/8615674"},"language":"en","primary_location":{"id":"doi:10.3390/biom11111578","doi":"https://doi.org/10.3390/biom11111578","is_oa":true,"landing_page_url":"https://doi.org/10.3390/biom11111578","pdf_url":"https://www.mdpi.com/2218-273X/11/11/1578/pdf?version=1635165185","source":{"id":"https://openalex.org/S4210236520","display_name":"Biomolecules","issn_l":"2218-273X","issn":["2218-273X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biomolecules","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/2218-273X/11/11/1578/pdf?version=1635165185","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5031119081","display_name":"Anwar Baban","orcid":"https://orcid.org/0000-0002-9428-4934","observed_orcids":["https://orcid.org/0000-0002-9428-4934"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Anwar Baban","raw_affiliation_strings":["The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040785515","display_name":"Valentina Lodato","orcid":"https://orcid.org/0000-0001-9476-3575","observed_orcids":["https://orcid.org/0000-0001-9476-3575"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Valentina Lodato","raw_affiliation_strings":["The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027426074","display_name":"Giovanni Parlapiano","orcid":"https://orcid.org/0000-0002-2275-9670","observed_orcids":["https://orcid.org/0000-0002-2275-9670"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Giovanni Parlapiano","raw_affiliation_strings":["Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0002-2275-9670","affiliations":[{"raw_affiliation_string":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031928111","display_name":"Corrado Di Mambro","orcid":"https://orcid.org/0000-0003-0600-3766","observed_orcids":["https://orcid.org/0000-0003-0600-3766"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Corrado di Mambro","raw_affiliation_strings":["The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016431208","display_name":"Rachele Adorisio","orcid":"https://orcid.org/0000-0002-9577-2155","observed_orcids":["https://orcid.org/0000-0002-9577-2155"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Rachele Adorisio","raw_affiliation_strings":["The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0002-9577-2155","affiliations":[{"raw_affiliation_string":"The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059742070","display_name":"Enrico Bertini","orcid":"https://orcid.org/0000-0001-9276-4590","observed_orcids":["https://orcid.org/0000-0001-9276-4590"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Enrico Silvio Bertini","raw_affiliation_strings":["The European Reference Network for Neuromuscular Disorders (ERN NMD), Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00146 Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The European Reference Network for Neuromuscular Disorders (ERN NMD), Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00146 Rome, Italy","institution_ids":["https://openalex.org/I4210123352"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087777712","display_name":"Carlo Dionisi\u2010Vici","orcid":"https://orcid.org/0000-0002-0007-3379","observed_orcids":["https://orcid.org/0000-0002-0007-3379"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Carlo Dionisi-Vici","raw_affiliation_strings":["Division of Metabolism, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Metabolism, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027001574","display_name":"Fabrizio Drago","orcid":"https://orcid.org/0000-0003-1888-373X","observed_orcids":["https://orcid.org/0000-0003-1888-373X"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Fabrizio Drago","raw_affiliation_strings":["The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5087472564","display_name":"Diego Martinelli","orcid":"https://orcid.org/0000-0002-9324-2871","observed_orcids":["https://orcid.org/0000-0002-9324-2871"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Diego Martinelli","raw_affiliation_strings":["Division of Metabolism, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Metabolism, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5031119081"],"corresponding_institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"],"apc_list":{"value":2000,"currency":"CHF","value_usd":2160},"apc_paid":{"value":2000,"currency":"CHF","value_usd":2160},"fwci":0.338,"has_fulltext":true,"cited_by_count":13,"citation_normalized_percentile":{"value":0.33179724,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"11","issue":"11","first_page":"1578","last_page":"1578"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.8779000043869019,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.8779000043869019,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.05820000171661377,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11922","display_name":"Cardiovascular Effects of Exercise","score":0.02759999968111515,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/neuromuscular-disorders","display_name":"neuromuscular disorders","score":0.9819999933242798},{"id":"https://openalex.org/keywords/cardiac-involvement","display_name":"cardiac involvement","score":0.6299999952316284},{"id":"https://openalex.org/keywords/cardiomyopathy","display_name":"cardiomyopathy","score":0.8029999732971191},{"id":"https://openalex.org/keywords/atrioventricular-conduction-defects","display_name":"atrioventricular conduction defects","score":0.8349999785423279},{"id":"https://openalex.org/keywords/supraventricular-tachycardia","display_name":"supraventricular tachycardia","score":0.9800000190734863},{"id":"https://openalex.org/keywords/ventricular-arrhythmias","display_name":"ventricular arrhythmias","score":0.9879999756813049},{"id":"https://openalex.org/keywords/friedreich-ataxia","display_name":"Friedreich's ataxia","score":0.8830000162124634},{"id":"https://openalex.org/keywords/myotonic-dystrophy-type-1","display_name":"myotonic dystrophy type 1","score":0.9980000257492065},{"id":"https://openalex.org/keywords/kearns-sayre-syndrome","display_name":"Kearns-Sayre syndrome","score":0.972000002861023},{"id":"https://openalex.org/keywords/ryr1-related-myopathies","display_name":"RYR1-related myopathies","score":0.9110000133514404},{"id":"https://openalex.org/keywords/laminopathies","display_name":"laminopathies","score":0.996999979019165},{"id":"https://openalex.org/keywords/dilated-cardiomyopathy","display_name":"dilated cardiomyopathy","score":0.8700000047683716},{"id":"https://openalex.org/keywords/hypertrophic-cardiomyopathy","display_name":"hypertrophic cardiomyopathy","score":0.9950000047683716},{"id":"https://openalex.org/keywords/restrictive-cardiomyopathy","display_name":"restrictive cardiomyopathy","score":0.9380000233650208},{"id":"https://openalex.org/keywords/left-ventricular-noncompaction","display_name":"left ventricular noncompaction","score":0.9559999704360962},{"id":"https://openalex.org/keywords/valvulopathy","display_name":"valvulopathy","score":0.8809999823570251},{"id":"https://openalex.org/keywords/children","display_name":"children","score":0.5730000138282776},{"id":"https://openalex.org/keywords/multidisciplinary-management","display_name":"multidisciplinary management","score":0.8579999804496765}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7641928195953369},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.5344452261924744},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4873145520687103},{"id":"https://openalex.org/C2778063965","wikidata":"https://www.wikidata.org/wiki/Q1860507","display_name":"Myotonic dystrophy","level":2,"score":0.4201638996601105},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3431035280227661}],"mesh":[{"descriptor_ui":"D001145","descriptor_name":"Arrhythmias, Cardiac","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005621","descriptor_name":"Friedreich Ataxia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D005621","descriptor_name":"Friedreich Ataxia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D005621","descriptor_name":"Friedreich Ataxia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007625","descriptor_name":"Kearns-Sayre Syndrome","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D007625","descriptor_name":"Kearns-Sayre Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D007625","descriptor_name":"Kearns-Sayre Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009223","descriptor_name":"Myotonic Dystrophy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009468","descriptor_name":"Neuromuscular Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.3390/biom11111578","doi":"https://doi.org/10.3390/biom11111578","is_oa":true,"landing_page_url":"https://doi.org/10.3390/biom11111578","pdf_url":"https://www.mdpi.com/2218-273X/11/11/1578/pdf?version=1635165185","source":{"id":"https://openalex.org/S4210236520","display_name":"Biomolecules","issn_l":"2218-273X","issn":["2218-273X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biomolecules","raw_type":"journal-article"},{"id":"pmid:34827576","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34827576","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":"Biomolecules","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:8615674","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC8615674/","pdf_url":null,"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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biomolecules","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:987ea053af7342c4b76cb0fd5785834d","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/987ea053af7342c4b76cb0fd5785834d","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Biomolecules, Vol 11, Iss 11, p 1578 (2021)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3390/biom11111578","doi":"https://doi.org/10.3390/biom11111578","is_oa":true,"landing_page_url":"https://doi.org/10.3390/biom11111578","pdf_url":"https://www.mdpi.com/2218-273X/11/11/1578/pdf?version=1635165185","source":{"id":"https://openalex.org/S4210236520","display_name":"Biomolecules","issn_l":"2218-273X","issn":["2218-273X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biomolecules","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3208183282.pdf","grobid_xml":"https://content.openalex.org/works/W3208183282.grobid-xml"},"referenced_works_count":86,"referenced_works":["https://openalex.org/W17292263","https://openalex.org/W764915325","https://openalex.org/W1202483217","https://openalex.org/W1483522171","https://openalex.org/W1555093655","https://openalex.org/W1591884598","https://openalex.org/W1665551917","https://openalex.org/W1968887442","https://openalex.org/W1975127018","https://openalex.org/W1976506286","https://openalex.org/W2009516497","https://openalex.org/W2018484969","https://openalex.org/W2020177040","https://openalex.org/W2020783997","https://openalex.org/W2022312470","https://openalex.org/W2023649556","https://openalex.org/W2030464609","https://openalex.org/W2035916971","https://openalex.org/W2038988427","https://openalex.org/W2041599232","https://openalex.org/W2047666061","https://openalex.org/W2050057821","https://openalex.org/W2059849324","https://openalex.org/W2060674621","https://openalex.org/W2063925586","https://openalex.org/W2064891918","https://openalex.org/W2072801460","https://openalex.org/W2074771942","https://openalex.org/W2077176055","https://openalex.org/W2078138322","https://openalex.org/W2081243925","https://openalex.org/W2083028245","https://openalex.org/W2089868459","https://openalex.org/W2091248625","https://openalex.org/W2092872815","https://openalex.org/W2095926980","https://openalex.org/W2106292732","https://openalex.org/W2110751608","https://openalex.org/W2112679629","https://openalex.org/W2113390819","https://openalex.org/W2116635624","https://openalex.org/W2144742768","https://openalex.org/W2146587884","https://openalex.org/W2148907793","https://openalex.org/W2153018276","https://openalex.org/W2156629285","https://openalex.org/W2163557535","https://openalex.org/W2166737418","https://openalex.org/W2167038632","https://openalex.org/W2170131465","https://openalex.org/W2199426535","https://openalex.org/W2207270251","https://openalex.org/W2292055171","https://openalex.org/W2395278064","https://openalex.org/W2405012717","https://openalex.org/W2512204212","https://openalex.org/W2562594279","https://openalex.org/W2565062103","https://openalex.org/W2584763267","https://openalex.org/W2601670674","https://openalex.org/W2746659169","https://openalex.org/W2761694788","https://openalex.org/W2782507635","https://openalex.org/W2787055137","https://openalex.org/W2806106650","https://openalex.org/W2887714914","https://openalex.org/W2899656468","https://openalex.org/W2903640001","https://openalex.org/W2908321718","https://openalex.org/W2910182898","https://openalex.org/W2913509582","https://openalex.org/W2921686576","https://openalex.org/W2942414385","https://openalex.org/W2963553178","https://openalex.org/W2987401457","https://openalex.org/W2995909460","https://openalex.org/W3043912028","https://openalex.org/W3049494623","https://openalex.org/W3085509508","https://openalex.org/W3089370861","https://openalex.org/W3096881559","https://openalex.org/W3114709327","https://openalex.org/W3148190825","https://openalex.org/W3164698527","https://openalex.org/W4211223349","https://openalex.org/W4388165681"],"related_works":["https://openalex.org/W2035916971","https://openalex.org/W2466669199","https://openalex.org/W1976835643","https://openalex.org/W2467531462","https://openalex.org/W2078138322","https://openalex.org/W2273910329","https://openalex.org/W4319241058","https://openalex.org/W2048546030","https://openalex.org/W2753982907","https://openalex.org/W7218216244"],"abstract_inverted_index":{"Neuromuscular":[0],"disorders":[1],"(NMDs)":[2],"are":[3,19,92],"highly":[4],"heterogenous":[5],"from":[6],"both":[7],"an":[8],"etiological":[9],"and":[10,17,51,60,69,88,112,127,137,181,211,240],"clinical":[11],"point":[12],"of":[13,72,129,166,205,234,247],"view.":[14],"Their":[15],"signs":[16,246],"symptoms":[18],"often":[20],"multisystemic,":[21],"with":[22],"frequent":[23],"cardiac":[24,38,116,147,160,242],"involvement.":[25],"In":[26,55],"fact,":[27],"childhood":[28,70],"onset":[29],"forms":[30,71],"can":[31,244],"predispose":[32],"a":[33,206,218],"person":[34],"to":[35,134,142,226,252],"various":[36],"progressive":[37,182],"abnormalities":[39,178],"including":[40],"cardiomyopathies":[41],"(CMPs),":[42],"valvulopathies,":[43],"atrioventricular":[44],"conduction":[45],"defects":[46],"(AVCD),":[47],"supraventricular":[48],"tachycardia":[49],"(SVT)":[50],"ventricular":[52,173],"arrhythmias":[53],"(VA).":[54],"this":[56],"review,":[57],"we":[58,155],"selected":[59],"described":[61,153],"five":[62],"specific":[63,106],"NMDs:":[64],"Friedreich\u2019s":[65],"Ataxia":[66],"(FRDA),":[67],"congenital":[68],"Myotonic":[73],"Dystrophy":[74],"type":[75,84],"1":[76],"(DM1),":[77],"Kearns":[78],"Sayre":[79],"Syndrome":[80],"(KSS),":[81],"Ryanodine":[82],"receptor":[83],"1-related":[85],"myopathies":[86],"(RYR1-RM)":[87],"Laminopathies.":[89],"These":[90],"changes":[91,185],"widely":[93],"investigated":[94],"in":[95,100,118,149,230],"adults":[96],"but":[97],"less":[98],"researched":[99],"children.":[101,119,150],"We":[102,131,189,198],"focused":[103,156],"on":[104,157],"these":[105,121,196],"topics":[107],"due":[108,141,225],"their":[109,113,248],"relative":[110],"frequency":[111],"potential":[114],"unexpected":[115],"manifestations":[117,161],"Moreover":[120],"conditions":[122],"present":[123],"different":[124,164],"inheritance":[125],"patterns":[126],"mechanisms":[128],"action.":[130],"decided":[132],"not":[133],"discuss":[135],"Duchenne":[136],"Becker":[138],"muscular":[139],"dystrophies":[140],"extensive":[143],"work":[144],"regarding":[145],"the":[146,158,191,200,212,227,232,241],"aspects":[148],"For":[151],"each":[152],"NMD,":[154],"possible":[159],"such":[162],"as":[163],"types":[165],"CMPs":[167],"(dilated-DCM,":[168],"hypertrophic-HCM,":[169],"restrictive-RCM":[170],"or":[171],"left":[172],"non":[174],"compaction-LVNC),":[175],"structural":[176],"heart":[177,183,220],"(including":[179],"valvulopathies),":[180],"rhythm":[184],"(AVCD,":[186],"SVT,":[187],"VA).":[188],"describe":[190],"current":[192],"management":[193],"strategies":[194],"for":[195,203,214],"conditions.":[197],"underline":[199],"importance,":[201],"especially":[202],"children,":[204,231],"serial":[207],"multidisciplinary":[208],"personalized":[209],"approach":[210],"need":[213],"periodic":[215],"surveillance":[216],"by":[217],"dedicated":[219],"team.":[221],"This":[222],"is":[223],"largely":[224],"fact":[228],"that":[229],"diagnosis":[233],"certain":[235],"NMDs":[236],"might":[237],"be":[238],"overlooked":[239],"aspect":[243],"provide":[245],"presence":[249],"even":[250],"prior":[251],"overt":[253],"neurological":[254],"diagnosis.":[255]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":3}],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2021-11-08T00:00:00"}