{"id":"https://openalex.org/W2056832136","doi":"https://doi.org/10.1016/j.nmd.2013.11.013","title":"Early infantile sensory-motor neuropathy with late onset respiratory distress","display_name":"Early infantile sensory-motor neuropathy with late onset respiratory distress","publication_year":2013,"publication_date":"2013-12-01","ids":{"openalex":"https://openalex.org/W2056832136","doi":"https://doi.org/10.1016/j.nmd.2013.11.013","mag":"2056832136","pmid":"https://pubmed.ncbi.nlm.nih.gov/24342282"},"language":"en","primary_location":{"id":"doi:10.1016/j.nmd.2013.11.013","doi":"https://doi.org/10.1016/j.nmd.2013.11.013","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nmd.2013.11.013","pdf_url":null,"source":{"id":"https://openalex.org/S50004817","display_name":"Neuromuscular Disorders","issn_l":"0960-8966","issn":["0960-8966","1873-2364"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuromuscular Disorders","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5049804598","display_name":"Astrid Blaschek","orcid":"https://orcid.org/0000-0003-2918-0159","observed_orcids":["https://orcid.org/0000-0003-2918-0159"]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Astrid Blaschek","raw_affiliation_strings":["Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany. Electronic address: astrid.blaschek@med.uni-muenchen.de"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany. Electronic address: astrid.blaschek@med.uni-muenchen.de","institution_ids":["https://openalex.org/I8204097"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112067138","display_name":"Dieter Gl\u00e4ser","orcid":"https://orcid.org/0000-0002-9033-3743","observed_orcids":["https://orcid.org/0000-0002-9033-3743"]},"institutions":[{"id":"https://openalex.org/I4210104571","display_name":"Genetikum","ror":"https://ror.org/015thzh02","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210104571"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Dieter Gl\u00e4ser","raw_affiliation_strings":["Genetikum, Neu-Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetikum, Neu-Ulm, Germany","institution_ids":["https://openalex.org/I4210104571"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078937014","display_name":"Marius Kuhn","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210104571","display_name":"Genetikum","ror":"https://ror.org/015thzh02","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210104571"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Marius Kuhn","raw_affiliation_strings":["Genetikum, Neu-Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetikum, Neu-Ulm, Germany","institution_ids":["https://openalex.org/I4210104571"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101662451","display_name":"A. Sebastian Schroeder","orcid":"https://orcid.org/0000-0001-6664-2012","observed_orcids":["https://orcid.org/0000-0001-6664-2012"]},"institutions":[{"id":"https://openalex.org/I4405281604","display_name":"Deutsches Schwindel- und Gleichgewichtszentrum","ror":"https://ror.org/04ma31e66","country_code":"DE","type":"facility","lineage":["https://openalex.org/I3018771216","https://openalex.org/I4405281604","https://openalex.org/I8204097"]},{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Andreas Sebastian Schroeder","raw_affiliation_strings":["Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany; German Center for Vertigo and Balance Disorders, Munich University Hospital, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany; German Center for Vertigo and Balance Disorders, Munich University Hospital, Germany","institution_ids":["https://openalex.org/I4405281604","https://openalex.org/I8204097"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110742945","display_name":"Cornelius Wimmer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210092619","display_name":"Sch\u00f6n Klinik Vogtareuth","ror":"https://ror.org/005y23t65","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210088209","https://openalex.org/I4210092619"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Cornelius Wimmer","raw_affiliation_strings":["Sch\u00f6n Klinik Vogtareuth, Spinal Surgery with Scoliosis Centre, Vogtareuth, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sch\u00f6n Klinik Vogtareuth, Spinal Surgery with Scoliosis Centre, Vogtareuth, Germany","institution_ids":["https://openalex.org/I4210092619"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036828749","display_name":"Bernd Heimkes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3018771216","display_name":"LMU Klinikum","ror":"https://ror.org/02jet3w32","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I3018771216","https://openalex.org/I8204097"]},{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Bernd Heimkes","raw_affiliation_strings":["Department of Orthopedic Surgery, Pediatric Orthopedic Unit, University Hospital Munich, Campus Grosshadern, Ludwig-Maximilians-University Munich, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic Surgery, Pediatric Orthopedic Unit, University Hospital Munich, Campus Grosshadern, Ludwig-Maximilians-University Munich, Germany","institution_ids":["https://openalex.org/I3018771216","https://openalex.org/I8204097"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111533762","display_name":"Carola Sch\u00f6n","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Carola Sch\u00f6n","raw_affiliation_strings":["Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany","institution_ids":["https://openalex.org/I8204097"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5029637170","display_name":"Wolfgang M\u00fcller\u2010Felber","orcid":"https://orcid.org/0000-0001-9916-5048","observed_orcids":["https://orcid.org/0000-0001-9916-5048"]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Wolfgang M\u00fcller-Felber","raw_affiliation_strings":["Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany","institution_ids":["https://openalex.org/I8204097"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5049804598"],"corresponding_institution_ids":["https://openalex.org/I8204097"],"apc_list":{"value":3470,"currency":"USD","value_usd":3470},"apc_paid":null,"fwci":0.6014,"has_fulltext":false,"cited_by_count":15,"citation_normalized_percentile":{"value":0.5962334,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"24","issue":"3","first_page":"269","last_page":"271"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.6064000129699707,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.6064000129699707,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.38670000433921814,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0017000000225380063,"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/spinal-muscular-atrophy-with-respiratory-distress-type-1","display_name":"SMARD1","score":0.9139999747276306},{"id":"https://openalex.org/keywords/ighmbp2","display_name":"IGHMBP2","score":0.8790000081062317},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.9610000252723694},{"id":"https://openalex.org/keywords/sensorimotor-neuropathy","display_name":"sensorimotor neuropathy","score":0.8830000162124634},{"id":"https://openalex.org/keywords/diaphragmatic-paralysis","display_name":"diaphragmatic paralysis","score":0.8050000071525574},{"id":"https://openalex.org/keywords/respiratory-failure","display_name":"respiratory failure","score":0.7409999966621399},{"id":"https://openalex.org/keywords/neurogenic-bladder","display_name":"neurogenic bladder","score":0.8769999742507935},{"id":"https://openalex.org/keywords/urinary-retention","display_name":"urinary retention","score":0.753000020980835},{"id":"https://openalex.org/keywords/autonomic-dysfunction","display_name":"autonomic dysfunction","score":0.8460000157356262},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.7139999866485596},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9010000228881836},{"id":"https://openalex.org/keywords/inherited-neuropathy","display_name":"inherited neuropathy","score":0.6240000128746033}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.711966872215271},{"id":"https://openalex.org/C2780247198","wikidata":"https://www.wikidata.org/wiki/Q633403","display_name":"Weakness","level":2,"score":0.7075629830360413},{"id":"https://openalex.org/C141983124","wikidata":"https://www.wikidata.org/wiki/Q188008","display_name":"Respiratory distress","level":2,"score":0.7003489136695862},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.580889880657196},{"id":"https://openalex.org/C2778558090","wikidata":"https://www.wikidata.org/wiki/Q580290","display_name":"Spinal muscular atrophy","level":3,"score":0.5581256747245789},{"id":"https://openalex.org/C20463939","wikidata":"https://www.wikidata.org/wiki/Q811123","display_name":"Diaphragmatic breathing","level":3,"score":0.5000276565551758},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4757930040359497},{"id":"https://openalex.org/C534529494","wikidata":"https://www.wikidata.org/wiki/Q7891","display_name":"Respiratory system","level":2,"score":0.45690053701400757},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.4266446828842163},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.3930562138557434},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.28384828567504883},{"id":"https://openalex.org/C42219234","wikidata":"https://www.wikidata.org/wiki/Q131130","display_name":"Anesthesia","level":1,"score":0.23421639204025269},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.22477206587791443},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.1834697127342224},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1025039553642273},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.095497727394104},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.06619876623153687},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C204787440","wikidata":"https://www.wikidata.org/wiki/Q188504","display_name":"Alternative medicine","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D011859","descriptor_name":"Radiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012120","descriptor_name":"Respiration Disorders","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D012120","descriptor_name":"Respiration Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D014897","descriptor_name":"Spinal Muscular Atrophies of Childhood","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.nmd.2013.11.013","doi":"https://doi.org/10.1016/j.nmd.2013.11.013","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nmd.2013.11.013","pdf_url":null,"source":{"id":"https://openalex.org/S50004817","display_name":"Neuromuscular Disorders","issn_l":"0960-8966","issn":["0960-8966","1873-2364"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuromuscular Disorders","raw_type":"journal-article"},{"id":"pmid:24342282","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24342282","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":"Neuromuscular disorders : NMD","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W1536408199","https://openalex.org/W2004135474","https://openalex.org/W2041725903","https://openalex.org/W2061681174","https://openalex.org/W2078934315","https://openalex.org/W2109411856","https://openalex.org/W2139773503","https://openalex.org/W2153165124","https://openalex.org/W2158880697","https://openalex.org/W2163329668","https://openalex.org/W6660685027"],"related_works":["https://openalex.org/W2281739398","https://openalex.org/W2043367159","https://openalex.org/W1999394726","https://openalex.org/W2023078117","https://openalex.org/W2090735745","https://openalex.org/W2139773503","https://openalex.org/W2171257446","https://openalex.org/W2258289273","https://openalex.org/W2151596473","https://openalex.org/W2030904200"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
