{"id":"https://openalex.org/W2017522486","doi":"https://doi.org/10.1007/bf00449912","title":"Autosomal dominant Emery-Dreifuss syndrome: Evidence of a neurogenic variant of the disease","display_name":"Autosomal dominant Emery-Dreifuss syndrome: Evidence of a neurogenic variant of the disease","publication_year":1988,"publication_date":"1988-06-01","ids":{"openalex":"https://openalex.org/W2017522486","doi":"https://doi.org/10.1007/bf00449912","mag":"2017522486","pmid":"https://pubmed.ncbi.nlm.nih.gov/3203701"},"language":"en","primary_location":{"id":"doi:10.1007/bf00449912","doi":"https://doi.org/10.1007/bf00449912","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00449912","pdf_url":null,"source":{"id":"https://openalex.org/S105662685","display_name":"European Archives of Psychiatry and Clinical Neuroscience","issn_l":"0003-9373","issn":["0003-9373","0175-758X","0940-1334","1433-8491"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Archives of Psychiatry and Neurological Sciences","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/A5058196389","display_name":"Th. N. Witt","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Th. N. Witt","raw_affiliation_strings":["Neurologische Klinik, Klinikum Gro\u00dfhadern, Marchioninistrasse 15, D-8000, M\u00fcnchen 70, Germany","Neurologische Klinik, Klinikum Gro\u00dfhadern, M\u00fcnchen 70, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurologische Klinik, Klinikum Gro\u00dfhadern, Marchioninistrasse 15, D-8000, M\u00fcnchen 70, Germany","institution_ids":[]},{"raw_affiliation_string":"Neurologische Klinik, Klinikum Gro\u00dfhadern, M\u00fcnchen 70, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022170682","display_name":"C. Garner","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C. G. Garner","raw_affiliation_strings":["Neurologische Klinik, Klinikum Gro\u00dfhadern, Marchioninistrasse 15, D-8000, M\u00fcnchen 70, Germany","Neurologische Klinik, Klinikum Gro\u00dfhadern, M\u00fcnchen 70, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurologische Klinik, Klinikum Gro\u00dfhadern, Marchioninistrasse 15, D-8000, M\u00fcnchen 70, Germany","institution_ids":[]},{"raw_affiliation_string":"Neurologische Klinik, Klinikum Gro\u00dfhadern, M\u00fcnchen 70, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058140723","display_name":"Dieter E. Pongratz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210133604","display_name":"Friedrich Baur Stiftung","ror":"https://ror.org/032a9fh96","country_code":"DE","type":"other","lineage":["https://openalex.org/I4210133604"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"D. Pongratz","raw_affiliation_strings":["Friedrich Baur Stiftung, Medizinische Klinik Innenstadt, D-8000, M\u00fcnchen, Germany","Friedrich Baur Stiftung, Medizinische Klinik Innenstadt, M\u00fcnchen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Friedrich Baur Stiftung, Medizinische Klinik Innenstadt, D-8000, M\u00fcnchen, Germany","institution_ids":["https://openalex.org/I4210133604"]},{"raw_affiliation_string":"Friedrich Baur Stiftung, Medizinische Klinik Innenstadt, M\u00fcnchen, Germany","institution_ids":["https://openalex.org/I4210133604"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5068338229","display_name":"Xaver Baur","orcid":"https://orcid.org/0000-0003-1880-1220","observed_orcids":["https://orcid.org/0000-0003-1880-1220"]},"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":"X. Baur","raw_affiliation_strings":["Medizinische Klinik I, Klinikum Gro\u00dfhadern der Universit\u00e4t M\u00fcnchen, D-8000, M\u00fcnchen, Germany","Medizinische Klinik I, Klinikum Gro\u00dfhadern der Universit\u00e4t M\u00fcnchen, M\u00fcnchen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medizinische Klinik I, Klinikum Gro\u00dfhadern der Universit\u00e4t M\u00fcnchen, D-8000, M\u00fcnchen, Germany","institution_ids":["https://openalex.org/I3018771216","https://openalex.org/I8204097"]},{"raw_affiliation_string":"Medizinische Klinik I, Klinikum Gro\u00dfhadern der Universit\u00e4t M\u00fcnchen, M\u00fcnchen, Germany","institution_ids":["https://openalex.org/I3018771216","https://openalex.org/I8204097"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":null,"fwci":0.223,"has_fulltext":false,"cited_by_count":14,"citation_normalized_percentile":{"value":0.43393953,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"237","issue":"4","first_page":"230","last_page":"236"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.7490000128746033,"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":0.7490000128746033,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.08470000326633453,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.03709999844431877,"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/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.9369999766349792},{"id":"https://openalex.org/keywords/disease-classification","display_name":"disease classification","score":0.5440000295639038},{"id":"https://openalex.org/keywords/familial-case","display_name":"familial case","score":0.4779999852180481},{"id":"https://openalex.org/keywords/electrophysiology","display_name":"electrophysiology","score":0.7490000128746033},{"id":"https://openalex.org/keywords/muscle-pathology","display_name":"muscle pathology","score":0.7289999723434448}],"concepts":[{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.6407188177108765},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5636688470840454},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.5607631206512451},{"id":"https://openalex.org/C2910862020","wikidata":"https://www.wikidata.org/wiki/Q3454555","display_name":"Autosomal recessive inheritance","level":3,"score":0.5143247842788696},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4840833246707916},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.3183135688304901},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.31373918056488037},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.23960956931114197},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.22199273109436035},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.21432733535766602},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.04997754096984863}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004576","descriptor_name":"Electromyography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009046","descriptor_name":"Motor Neurons","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D009134","descriptor_name":"Muscular Atrophy, Spinal","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010525","descriptor_name":"Peripheral Nerves","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D012677","descriptor_name":"Sensation","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D012729","descriptor_name":"Sex Chromosome Aberrations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1007/bf00449912","doi":"https://doi.org/10.1007/bf00449912","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00449912","pdf_url":null,"source":{"id":"https://openalex.org/S105662685","display_name":"European Archives of Psychiatry and Clinical Neuroscience","issn_l":"0003-9373","issn":["0003-9373","0175-758X","0940-1334","1433-8491"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Archives of Psychiatry and Neurological Sciences","raw_type":"journal-article"},{"id":"pmid:3203701","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3203701","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":"European archives of psychiatry and neurological sciences","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9763000011444092}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320310145","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":34,"referenced_works":["https://openalex.org/W46987514","https://openalex.org/W232126991","https://openalex.org/W325697137","https://openalex.org/W1567088072","https://openalex.org/W1973504746","https://openalex.org/W1973570495","https://openalex.org/W1984251952","https://openalex.org/W2006039795","https://openalex.org/W2007104811","https://openalex.org/W2036501682","https://openalex.org/W2046558383","https://openalex.org/W2054009446","https://openalex.org/W2062341184","https://openalex.org/W2064862455","https://openalex.org/W2064973140","https://openalex.org/W2065957741","https://openalex.org/W2078690923","https://openalex.org/W2080543758","https://openalex.org/W2085078877","https://openalex.org/W2092287872","https://openalex.org/W2104901351","https://openalex.org/W2127277588","https://openalex.org/W2137501458","https://openalex.org/W2145527819","https://openalex.org/W2156762235","https://openalex.org/W2160613341","https://openalex.org/W2166561381","https://openalex.org/W2330893354","https://openalex.org/W2332435050","https://openalex.org/W2394761340","https://openalex.org/W2400132942","https://openalex.org/W2417293637","https://openalex.org/W2441442851","https://openalex.org/W2511395680"],"related_works":["https://openalex.org/W1917065772","https://openalex.org/W2424183172","https://openalex.org/W1973143858","https://openalex.org/W1984317545","https://openalex.org/W2400132942","https://openalex.org/W1964132045","https://openalex.org/W2004941046","https://openalex.org/W1994672359","https://openalex.org/W1598878567","https://openalex.org/W1979608529"],"abstract_inverted_index":null,"counts_by_year":[{"year":2018,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}