{"id":"https://openalex.org/W7155154392","doi":"https://doi.org/10.1093/hmg/ddag028","title":"The p.(Leu97Ile) variant expands the genetic landscape of NEFL -associated Charcot\u2013Marie-tooth neuropathies","display_name":"The p.(Leu97Ile) variant expands the genetic landscape of NEFL -associated Charcot\u2013Marie-tooth neuropathies","publication_year":2026,"publication_date":"2026-01-01","ids":{"openalex":"https://openalex.org/W7155154392","doi":"https://doi.org/10.1093/hmg/ddag028","pmid":"https://pubmed.ncbi.nlm.nih.gov/42017539"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/ddag028","doi":"https://doi.org/10.1093/hmg/ddag028","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddag028","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"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":"Human Molecular Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","datacite","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1093/hmg/ddag028","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5093066536","display_name":"Menekse Oeztuerk","orcid":"https://orcid.org/0009-0009-2636-9731","observed_orcids":["https://orcid.org/0009-0009-2636-9731"]},"institutions":[{"id":"https://openalex.org/I4210139845","display_name":"BG University Hospital Bergmannsheil Bochum","ror":"https://ror.org/04j9bvy88","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799784675","https://openalex.org/I4210139845"]},{"id":"https://openalex.org/I904495901","display_name":"Ruhr University Bochum","ror":"https://ror.org/04tsk2644","country_code":"DE","type":"education","lineage":["https://openalex.org/I904495901"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Menekse Oeztuerk","raw_affiliation_strings":["BG University Hospital Bergmannsheil, Heimer Institute for Muscle Research , B\u00fcrkle de la Camp-Platz 1, 44789 Bochum ,","Ruhr University Bochum, BG University Hospital Bergmannsheil, Department of Neurology , Universit\u00e4tsstra\u00dfe 150, 44801 Bochum,"],"raw_orcid":"https://orcid.org/0009-0009-2636-9731","affiliations":[{"raw_affiliation_string":"BG University Hospital Bergmannsheil, Heimer Institute for Muscle Research , B\u00fcrkle de la Camp-Platz 1, 44789 Bochum ,","institution_ids":["https://openalex.org/I4210139845"]},{"raw_affiliation_string":"Ruhr University Bochum, BG University Hospital Bergmannsheil, Department of Neurology , Universit\u00e4tsstra\u00dfe 150, 44801 Bochum,","institution_ids":["https://openalex.org/I4210139845","https://openalex.org/I904495901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5099840721","display_name":"Sara Walli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210089242","display_name":"D\u00fcsseldorf University Hospital","ror":"https://ror.org/006k2kk72","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210089242"]},{"id":"https://openalex.org/I44260953","display_name":"Heinrich Heine University D\u00fcsseldorf","ror":"https://ror.org/024z2rq82","country_code":"DE","type":"education","lineage":["https://openalex.org/I44260953"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Sara Walli","raw_affiliation_strings":["Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf,","institution_ids":["https://openalex.org/I4210089242","https://openalex.org/I44260953"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5116583910","display_name":"David Muhmann","orcid":"https://orcid.org/0009-0005-3935-5428","observed_orcids":["https://orcid.org/0009-0005-3935-5428"]},"institutions":[{"id":"https://openalex.org/I62318514","display_name":"University of Duisburg-Essen","ror":"https://ror.org/04mz5ra38","country_code":"DE","type":"education","lineage":["https://openalex.org/I62318514"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"David Muhmann","raw_affiliation_strings":["Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , Hufelandstra\u00dfe 55, 45147 Essen,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , Hufelandstra\u00dfe 55, 45147 Essen,","institution_ids":["https://openalex.org/I62318514"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5095091850","display_name":"Catherine M Choueiri","orcid":"https://orcid.org/0009-0006-6349-8899","observed_orcids":["https://orcid.org/0009-0006-6349-8899"]},"institutions":[{"id":"https://openalex.org/I2799330578","display_name":"Children's Hospital of Eastern Ontario","ror":"https://ror.org/05nsbhw27","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2799330578"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Catherine Choueiri","raw_affiliation_strings":["Children's Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, Ontario ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, Ontario ,","institution_ids":["https://openalex.org/I2799330578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084319907","display_name":"Vera Dobelmann","orcid":"https://orcid.org/0009-0003-9162-2517","observed_orcids":["https://orcid.org/0009-0003-9162-2517"]},"institutions":[{"id":"https://openalex.org/I4210089242","display_name":"D\u00fcsseldorf University Hospital","ror":"https://ror.org/006k2kk72","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210089242"]},{"id":"https://openalex.org/I44260953","display_name":"Heinrich Heine University D\u00fcsseldorf","ror":"https://ror.org/024z2rq82","country_code":"DE","type":"education","lineage":["https://openalex.org/I44260953"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Vera Dobelmann","raw_affiliation_strings":["Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf,","institution_ids":["https://openalex.org/I4210089242","https://openalex.org/I44260953"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107845209","display_name":"Angela Abicht","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210116470","display_name":"Medical Genetics Center","ror":"https://ror.org/027nwsc63","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116470"]},{"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":"Angela Abicht","raw_affiliation_strings":["Friedrich-Baur Institute, Ludwig Maximilian University , Ziemssenstra\u00dfe 1, 80336 Munich ,","Medical Genetics Center , Schlosserstra\u00dfe 8, 80335 Munich ,"],"raw_orcid":"https://orcid.org/0000-0002-2757-8131","affiliations":[{"raw_affiliation_string":"Friedrich-Baur Institute, Ludwig Maximilian University , Ziemssenstra\u00dfe 1, 80336 Munich ,","institution_ids":["https://openalex.org/I8204097"]},{"raw_affiliation_string":"Medical Genetics Center , Schlosserstra\u00dfe 8, 80335 Munich ,","institution_ids":["https://openalex.org/I4210116470"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091240460","display_name":"Barbara Leube","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210089242","display_name":"D\u00fcsseldorf University Hospital","ror":"https://ror.org/006k2kk72","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210089242"]},{"id":"https://openalex.org/I44260953","display_name":"Heinrich Heine University D\u00fcsseldorf","ror":"https://ror.org/024z2rq82","country_code":"DE","type":"education","lineage":["https://openalex.org/I44260953"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Barbara Leube","raw_affiliation_strings":["Institute of Human Genetics, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf ,","institution_ids":["https://openalex.org/I4210089242","https://openalex.org/I44260953"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109293327","display_name":"Ulrike Schara","orcid":"https://orcid.org/0000-0001-5833-2751","observed_orcids":["https://orcid.org/0000-0001-5833-2751"]},"institutions":[{"id":"https://openalex.org/I62318514","display_name":"University of Duisburg-Essen","ror":"https://ror.org/04mz5ra38","country_code":"DE","type":"education","lineage":["https://openalex.org/I62318514"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Ulrike Schara-Schmidt","raw_affiliation_strings":["Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , Hufelandstra\u00dfe 55, 45147 Essen,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , Hufelandstra\u00dfe 55, 45147 Essen,","institution_ids":["https://openalex.org/I62318514"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034872348","display_name":"Sven Guenther Meuth","orcid":"https://orcid.org/0000-0003-2571-3501","observed_orcids":["https://orcid.org/0000-0003-2571-3501"]},"institutions":[{"id":"https://openalex.org/I4210089242","display_name":"D\u00fcsseldorf University Hospital","ror":"https://ror.org/006k2kk72","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210089242"]},{"id":"https://openalex.org/I44260953","display_name":"Heinrich Heine University D\u00fcsseldorf","ror":"https://ror.org/024z2rq82","country_code":"DE","type":"education","lineage":["https://openalex.org/I44260953"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Sven G Meuth","raw_affiliation_strings":["Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf,","institution_ids":["https://openalex.org/I4210089242","https://openalex.org/I44260953"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036864941","display_name":"Rita Horv\u00e1th","orcid":"https://orcid.org/0000-0002-9841-170X","observed_orcids":["https://orcid.org/0000-0002-9841-170X"]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Rita Horvath","raw_affiliation_strings":["Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge , Ed Adrian Building, Robinson Way, Cambridge CB2 0PY ,"],"raw_orcid":"https://orcid.org/0000-0002-9841-170X","affiliations":[{"raw_affiliation_string":"Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge , Ed Adrian Building, Robinson Way, Cambridge CB2 0PY ,","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105466565","display_name":"H. Lochmueller","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I153718931","display_name":"University of Ottawa","ror":"https://ror.org/03c4mmv16","country_code":"CA","type":"education","lineage":["https://openalex.org/I153718931"]},{"id":"https://openalex.org/I2799330578","display_name":"Children's Hospital of Eastern Ontario","ror":"https://ror.org/05nsbhw27","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2799330578"]},{"id":"https://openalex.org/I2800722420","display_name":"Ottawa Hospital","ror":"https://ror.org/03c62dg59","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2800722420"]},{"id":"https://openalex.org/I4401200329","display_name":"uOttawa Brain and Mind Research Institute","ror":"https://ror.org/036s2ns10","country_code":null,"type":"facility","lineage":["https://openalex.org/I153718931","https://openalex.org/I4401200329"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Hanns Lochmueller","raw_affiliation_strings":["Brain and Mind Research Institute, University of Ottawa , 451 Smyth Road, Ottawa ,","Children's Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, Ontario ,","Division of Neurology, Department of Medicine, The Ottawa Hospital , 1053 Carling Avenue, Ottawa ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Brain and Mind Research Institute, University of Ottawa , 451 Smyth Road, Ottawa ,","institution_ids":["https://openalex.org/I153718931","https://openalex.org/I4401200329"]},{"raw_affiliation_string":"Children's Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, Ontario ,","institution_ids":["https://openalex.org/I2799330578"]},{"raw_affiliation_string":"Division of Neurology, Department of Medicine, The Ottawa Hospital , 1053 Carling Avenue, Ottawa ,","institution_ids":["https://openalex.org/I2800722420"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113291047","display_name":"Andreas Roos","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799330578","display_name":"Children's Hospital of Eastern Ontario","ror":"https://ror.org/05nsbhw27","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2799330578"]},{"id":"https://openalex.org/I4210089242","display_name":"D\u00fcsseldorf University Hospital","ror":"https://ror.org/006k2kk72","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210089242"]},{"id":"https://openalex.org/I44260953","display_name":"Heinrich Heine University D\u00fcsseldorf","ror":"https://ror.org/024z2rq82","country_code":"DE","type":"education","lineage":["https://openalex.org/I44260953"]},{"id":"https://openalex.org/I62318514","display_name":"University of Duisburg-Essen","ror":"https://ror.org/04mz5ra38","country_code":"DE","type":"education","lineage":["https://openalex.org/I62318514"]}],"countries":["CA","DE"],"is_corresponding":false,"raw_author_name":"Andreas Roos","raw_affiliation_strings":["Children's Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, Ontario ,","Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf,","Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , Hufelandstra\u00dfe 55, 45147 Essen,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, Ontario ,","institution_ids":["https://openalex.org/I2799330578"]},{"raw_affiliation_string":"Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf,","institution_ids":["https://openalex.org/I4210089242","https://openalex.org/I44260953"]},{"raw_affiliation_string":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , Hufelandstra\u00dfe 55, 45147 Essen,","institution_ids":["https://openalex.org/I62318514"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5047170095","display_name":"Tobias Ruck","orcid":"https://orcid.org/0000-0001-6332-8650","observed_orcids":["https://orcid.org/0000-0001-6332-8650"]},"institutions":[{"id":"https://openalex.org/I4210089242","display_name":"D\u00fcsseldorf University Hospital","ror":"https://ror.org/006k2kk72","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210089242"]},{"id":"https://openalex.org/I4210139845","display_name":"BG University Hospital Bergmannsheil Bochum","ror":"https://ror.org/04j9bvy88","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799784675","https://openalex.org/I4210139845"]},{"id":"https://openalex.org/I44260953","display_name":"Heinrich Heine University D\u00fcsseldorf","ror":"https://ror.org/024z2rq82","country_code":"DE","type":"education","lineage":["https://openalex.org/I44260953"]},{"id":"https://openalex.org/I904495901","display_name":"Ruhr University Bochum","ror":"https://ror.org/04tsk2644","country_code":"DE","type":"education","lineage":["https://openalex.org/I904495901"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Tobias Ruck","raw_affiliation_strings":["BG University Hospital Bergmannsheil, Heimer Institute for Muscle Research , B\u00fcrkle de la Camp-Platz 1, 44789 Bochum ,","Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf,","Ruhr University Bochum, BG University Hospital Bergmannsheil, Department of Neurology , Universit\u00e4tsstra\u00dfe 150, 44801 Bochum,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"BG University Hospital Bergmannsheil, Heimer Institute for Muscle Research , B\u00fcrkle de la Camp-Platz 1, 44789 Bochum ,","institution_ids":["https://openalex.org/I4210139845"]},{"raw_affiliation_string":"Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf,","institution_ids":["https://openalex.org/I4210089242","https://openalex.org/I44260953"]},{"raw_affiliation_string":"Ruhr University Bochum, BG University Hospital Bergmannsheil, Department of Neurology , Universit\u00e4tsstra\u00dfe 150, 44801 Bochum,","institution_ids":["https://openalex.org/I4210139845","https://openalex.org/I904495901"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5047170095"],"corresponding_institution_ids":["https://openalex.org/I4210089242","https://openalex.org/I4210139845","https://openalex.org/I44260953","https://openalex.org/I904495901"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":{"value":4390,"currency":"USD","value_usd":4390},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.2439841,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"35","issue":"7","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":1.0,"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":1.0,"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/T11650","display_name":"Skin and Cellular Biology Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"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/charcot-marie-tooth-disease","display_name":"Charcot-Marie-Tooth disease","score":0.8399999737739563},{"id":"https://openalex.org/keywords/neurofilament-light-chain","display_name":"neurofilament light chain","score":0.9869999885559082},{"id":"https://openalex.org/keywords/serum-biomarkers","display_name":"serum biomarkers","score":0.6570000052452087},{"id":"https://openalex.org/keywords/gdf15","display_name":"GDF15","score":0.796999990940094},{"id":"https://openalex.org/keywords/fgf21","display_name":"FGF21","score":0.9850000143051147},{"id":"https://openalex.org/keywords/periaxin","display_name":"periaxin","score":0.9330000281333923},{"id":"https://openalex.org/keywords/cd56","display_name":"CD56","score":0.9950000047683716},{"id":"https://openalex.org/keywords/variant-pathogenicity","display_name":"variant pathogenicity","score":0.7459999918937683},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.652999997138977},{"id":"https://openalex.org/keywords/axonal-transport","display_name":"axonal transport","score":0.5609999895095825}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.9325000047683716},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6309000253677368},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5475999712944031},{"id":"https://openalex.org/C64502627","wikidata":"https://www.wikidata.org/wiki/Q170065","display_name":"Pathogenicity","level":2,"score":0.5115000009536743},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.4519999921321869},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.42010000348091125},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3862000107765198},{"id":"https://openalex.org/C81917197","wikidata":"https://www.wikidata.org/wiki/Q628760","display_name":"Selection (genetic algorithm)","level":2,"score":0.36489999294281006},{"id":"https://openalex.org/C2988562018","wikidata":"https://www.wikidata.org/wiki/Q1063","display_name":"Biological evolution","level":2,"score":0.3434000015258789},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.33480000495910645},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3240000009536743},{"id":"https://openalex.org/C122735190","wikidata":"https://www.wikidata.org/wiki/Q715789","display_name":"Gene mapping","level":4,"score":0.3230000138282776},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.3158000111579895},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.304500013589859},{"id":"https://openalex.org/C3020442560","wikidata":"https://www.wikidata.org/wiki/Q4971815","display_name":"Broad spectrum","level":2,"score":0.30149999260902405},{"id":"https://openalex.org/C172777353","wikidata":"https://www.wikidata.org/wiki/Q1374271","display_name":"Genetic variability","level":4,"score":0.2824000120162964},{"id":"https://openalex.org/C2993266883","wikidata":"https://www.wikidata.org/wiki/Q178694","display_name":"Genetic inheritance","level":3,"score":0.2700999975204468},{"id":"https://openalex.org/C190789776","wikidata":"https://www.wikidata.org/wiki/Q767511","display_name":"Genetic marker","level":3,"score":0.2596000134944916}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D000328","descriptor_name":"Adult","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":"D000328","descriptor_name":"Adult","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":"D000328","descriptor_name":"Adult","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":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","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":"D005260","descriptor_name":"Female","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":"D005260","descriptor_name":"Female","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":"D005260","descriptor_name":"Female","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":"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":"D006801","descriptor_name":"Humans","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":"D006801","descriptor_name":"Humans","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":"D006801","descriptor_name":"Humans","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":"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":"D008297","descriptor_name":"Male","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":"D008297","descriptor_name":"Male","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":"D008297","descriptor_name":"Male","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":"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":"D008875","descriptor_name":"Middle Aged","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":"D008875","descriptor_name":"Middle Aged","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":"D008875","descriptor_name":"Middle Aged","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D016900","descriptor_name":"Neurofilament Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1093/hmg/ddag028","doi":"https://doi.org/10.1093/hmg/ddag028","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddag028","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"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":"Human Molecular Genetics","raw_type":"journal-article"},{"id":"pmid:42017539","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42017539","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":"Human molecular genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13100818","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13100818/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13100818/pdf/ddag028.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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Hum Mol Genet","raw_type":"Text"},{"id":"pmh:oai:www.repository.cam.ac.uk:1810/404217","doi":null,"is_oa":true,"landing_page_url":"https://www.repository.cam.ac.uk/handle/1810/404217","pdf_url":"https://www.repository.cam.ac.uk/bitstreams/f5820269-0f1b-4ab6-9227-5d5c2da6fc32/download","source":{"id":"https://openalex.org/S4306401777","display_name":"Apollo (University of Cambridge)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I241749","host_organization_name":"University of Cambridge","host_organization_lineage":["https://openalex.org/I241749"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"},{"id":"pmh:oai:bibliographie.ub.uni-due.de:ubo_mods_00241897","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pubmed/42017539","pdf_url":null,"source":{"id":"https://openalex.org/S7407055102","display_name":"Universit\u00e4tsbibliographie, Universit\u00e4t Duisburg-Essen","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"},{"id":"doi:10.17863/cam.130907","doi":"https://doi.org/10.17863/cam.130907","is_oa":true,"landing_page_url":"https://doi.org/10.17863/cam.130907","pdf_url":null,"source":{"id":"https://openalex.org/S7407050737","display_name":"Apollo","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","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":null,"raw_source_name":null,"raw_type":"JournalArticle"}],"best_oa_location":{"id":"doi:10.1093/hmg/ddag028","doi":"https://doi.org/10.1093/hmg/ddag028","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddag028","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"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":"Human Molecular Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9763000011444092,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"score":0.4643806219100952,"display_name":"Zero hunger","id":"https://metadata.un.org/sdg/2"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[{"id":"https://openalex.org/G1014246945","display_name":null,"funder_award_id":"101080249","funder_id":"https://openalex.org/F4320326644","funder_display_name":"Canada First Research Excellence Fund"},{"id":"https://openalex.org/G1189670905","display_name":null,"funder_award_id":"ERT-174211","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G1254555223","display_name":null,"funder_award_id":"ERT-174211","funder_id":"https://openalex.org/F4320320994","funder_display_name":"Canada Research Chairs"},{"id":"https://openalex.org/G1366525601","display_name":null,"funder_award_id":"NFRFG-2022-00033","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G1443089283","display_name":null,"funder_award_id":"950\u2010232279","funder_id":"https://openalex.org/F4320320994","funder_display_name":"Canada Research Chairs"},{"id":"https://openalex.org/G1914228270","display_name":null,"funder_award_id":"950-232279","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G1977987814","display_name":null,"funder_award_id":"101120256","funder_id":"https://openalex.org/F4320314731","funder_display_name":"UK Research and Innovation"},{"id":"https://openalex.org/G2228563315","display_name":null,"funder_award_id":"PGL23/100048","funder_id":"https://openalex.org/F4320320320","funder_display_name":"Rosetrees Trust"},{"id":"https://openalex.org/G2235045993","display_name":null,"funder_award_id":"ERT-174211","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G2266534423","display_name":null,"funder_award_id":"CFI-JELF 38412","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G2375541257","display_name":null,"funder_award_id":"MR/V009346/1","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G2493601830","display_name":null,"funder_award_id":"NIHR 203312","funder_id":"https://openalex.org/F4320336709","funder_display_name":"NIHR Cambridge Biomedical Research Centre"},{"id":"https://openalex.org/G2537968379","display_name":null,"funder_award_id":"(NIHR203312","funder_id":"https://openalex.org/F4320319990","funder_display_name":"National Institute for Health and Care Research"},{"id":"https://openalex.org/G2614133680","display_name":null,"funder_award_id":"549557400/RU 2169/5\u20131","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G2763881574","display_name":null,"funder_award_id":"MR/V009346/1","funder_id":"https://openalex.org/F4320320994","funder_display_name":"Canada Research Chairs"},{"id":"https://openalex.org/G2767849847","display_name":null,"funder_award_id":"CFREF-2022-00007","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G2920001861","display_name":null,"funder_award_id":"MR/S005021/1","funder_id":"https://openalex.org/F4320320050","funder_display_name":"Ataxia UK"},{"id":"https://openalex.org/G3353928523","display_name":null,"funder_award_id":"CFREF-2022-00007","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G3513744673","display_name":null,"funder_award_id":"2022-00007","funder_id":"https://openalex.org/F4320326644","funder_display_name":"Canada First Research Excellence Fund"},{"id":"https://openalex.org/G3522602058","display_name":null,"funder_award_id":"950-232279","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G3602036837","display_name":null,"funder_award_id":"PGL23/100048","funder_id":"https://openalex.org/F4320336709","funder_display_name":"NIHR Cambridge Biomedical Research Centre"},{"id":"https://openalex.org/G3648556220","display_name":null,"funder_award_id":"FDN-167281","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G3777639711","display_name":null,"funder_award_id":"MR/S005021/1","funder_id":"https://openalex.org/F4320320320","funder_display_name":"Rosetrees Trust"},{"id":"https://openalex.org/G3852724337","display_name":null,"funder_award_id":"FDN-167281","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G3864338403","display_name":null,"funder_award_id":"549557400","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G3906216459","display_name":null,"funder_award_id":"101080249","funder_id":"https://openalex.org/F4320334322","funder_display_name":"HORIZON EUROPE Framework Programme"},{"id":"https://openalex.org/G4166310527","display_name":null,"funder_award_id":"ERT-174211","funder_id":"https://openalex.org/F4320326644","funder_display_name":"Canada First Research Excellence Fund"},{"id":"https://openalex.org/G4311321735","display_name":null,"funder_award_id":"MR/S005021/1","funder_id":"https://openalex.org/F4320320994","funder_display_name":"Canada Research Chairs"},{"id":"https://openalex.org/G4395209027","display_name":null,"funder_award_id":"MR/S005021/1","funder_id":"https://openalex.org/F4320314731","funder_display_name":"UK Research and Innovation"},{"id":"https://openalex.org/G4466902010","display_name":null,"funder_award_id":"FDN-167281","funder_id":"https://openalex.org/F4320320994","funder_display_name":"Canada Research Chairs"},{"id":"https://openalex.org/G4682684196","display_name":null,"funder_award_id":"CFREF-2022-00007","funder_id":"https://openalex.org/F4320319880","funder_display_name":"Government of Canada"},{"id":"https://openalex.org/G4753630297","display_name":null,"funder_award_id":"NIHR203312","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G4785284928","display_name":null,"funder_award_id":"FDN- 167281","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G4905629147","display_name":null,"funder_award_id":"101080249","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G5097141464","display_name":null,"funder_award_id":"NMD4C","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G5141098744","display_name":null,"funder_award_id":"CFI-JELF 38412","funder_id":"https://openalex.org/F4320326644","funder_display_name":"Canada First Research Excellence Fund"},{"id":"https://openalex.org/G5360572808","display_name":null,"funder_award_id":"CFI-JELF 38412","funder_id":"https://openalex.org/F4320336709","funder_display_name":"NIHR Cambridge Biomedical Research Centre"},{"id":"https://openalex.org/G5594368681","display_name":null,"funder_award_id":"GRK2578","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G5699055735","display_name":null,"funder_award_id":"CFI-JELF 38412","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G587821458","display_name":"Targeting the cellular metabolism to treat tissue-specific mitochondrial diseases","funder_award_id":"MR/V009346/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G6128686132","display_name":"Brain-Heart Interconnectome","funder_award_id":"CFREF-2022-00007","funder_id":"https://openalex.org/F4320326644","funder_display_name":"Canada First Research Excellence Fund"},{"id":"https://openalex.org/G6151764808","display_name":"MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases","funder_award_id":"MR/S005021/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G6322264556","display_name":"NMD4C: the neuromuscular network for Canada","funder_award_id":"189333_1","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G6401263891","display_name":null,"funder_award_id":"NIHR203312","funder_id":"https://openalex.org/F4320313480","funder_display_name":"LifeArc"},{"id":"https://openalex.org/G6457627045","display_name":null,"funder_award_id":"OR2-189333","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G6701827816","display_name":null,"funder_award_id":"950-232279","funder_id":"https://openalex.org/F4320326644","funder_display_name":"Canada First Research Excellence Fund"},{"id":"https://openalex.org/G6746949437","display_name":null,"funder_award_id":"MR/V009346/1","funder_id":"https://openalex.org/F4320336709","funder_display_name":"NIHR Cambridge Biomedical Research Centre"},{"id":"https://openalex.org/G6805063602","display_name":null,"funder_award_id":"950-232279","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G692795203","display_name":null,"funder_award_id":"B2B-RARE","funder_id":"https://openalex.org/F4320335322","funder_display_name":"European Regional Development Fund"},{"id":"https://openalex.org/G7061099144","display_name":null,"funder_award_id":"101080249","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G7076316076","display_name":null,"funder_award_id":"CFI-JELF 38412","funder_id":"https://openalex.org/F4320320994","funder_display_name":"Canada Research Chairs"},{"id":"https://openalex.org/G7100031956","display_name":null,"funder_award_id":"NIHR203312","funder_id":"https://openalex.org/F4320320320","funder_display_name":"Rosetrees Trust"},{"id":"https://openalex.org/G724433139","display_name":null,"funder_award_id":"MR/S005021/1","funder_id":"https://openalex.org/F4320319990","funder_display_name":"National Institute for Health and Care Research"},{"id":"https://openalex.org/G7295870680","display_name":null,"funder_award_id":"NFRFG-2022-00033","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G7402325741","display_name":null,"funder_award_id":"ERT-174211","funder_id":"https://openalex.org/F4320336709","funder_display_name":"NIHR Cambridge Biomedical Research Centre"},{"id":"https://openalex.org/G7450694556","display_name":"GRK 2578: Einfluss von Genotoxinen auf die Differenzierungseffizienz muriner und humaner Stamm und Progenitorzellen sowie die Funktionalit\u00e4t von daraus abgeleiteten differenzierten Zelltypen","funder_award_id":"417677437","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G7570539936","display_name":null,"funder_award_id":"FDN-167281","funder_id":"https://openalex.org/F4320336709","funder_display_name":"NIHR Cambridge Biomedical Research Centre"},{"id":"https://openalex.org/G7641387588","display_name":null,"funder_award_id":"FDN-167281","funder_id":"https://openalex.org/F4320319880","funder_display_name":"Government of Canada"},{"id":"https://openalex.org/G7726061498","display_name":null,"funder_award_id":"OR2-189333","funder_id":"https://openalex.org/F4320326644","funder_display_name":"Canada First Research Excellence Fund"},{"id":"https://openalex.org/G7742460208","display_name":null,"funder_award_id":"NFRFG-2022-00033","funder_id":"https://openalex.org/F4320326644","funder_display_name":"Canada First Research Excellence Fund"},{"id":"https://openalex.org/G7798797775","display_name":null,"funder_award_id":"PGL23/100048","funder_id":"https://openalex.org/F4320313480","funder_display_name":"LifeArc"},{"id":"https://openalex.org/G7910070384","display_name":null,"funder_award_id":"CFI-JELF 38412","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G8115708585","display_name":"Probing Star Formation and Galaxy Evolution with Gamma-Ray Bursts","funder_award_id":"226653","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G8181187624","display_name":null,"funder_award_id":"EFRE-20800340","funder_id":"https://openalex.org/F4320335322","funder_display_name":"European Regional Development Fund"},{"id":"https://openalex.org/G8258187613","display_name":"Accelerating drug repurposing for rare neurological, neurometabolic and neuromuscular disorders by exploiting SIMilarities in clinical and molecular PATHology","funder_award_id":"101080249","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G8460769577","display_name":null,"funder_award_id":"FDN-167281","funder_id":"https://openalex.org/F4320326644","funder_display_name":"Canada First Research Excellence Fund"},{"id":"https://openalex.org/G8575920825","display_name":null,"funder_award_id":"MR/S005021/1","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G8606875578","display_name":"Novel therapeutic approaches to target GNE Myopathy","funder_award_id":"174211_1","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G864407001","display_name":null,"funder_award_id":"226653/Z/22/Z","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G8875776916","display_name":null,"funder_award_id":"MR/S005021/1","funder_id":"https://openalex.org/F4320336709","funder_display_name":"NIHR Cambridge Biomedical Research Centre"},{"id":"https://openalex.org/G902999079","display_name":null,"funder_award_id":"950-232279","funder_id":"https://openalex.org/F4320336709","funder_display_name":"NIHR Cambridge Biomedical Research Centre"}],"funders":[{"id":"https://openalex.org/F4320312963","display_name":"Muscular Dystrophy UK","ror":null},{"id":"https://openalex.org/F4320313480","display_name":"LifeArc","ror":"https://ror.org/01dqb0q37"},{"id":"https://openalex.org/F4320314731","display_name":"UK Research and Innovation","ror":"https://ror.org/001aqnf71"},{"id":"https://openalex.org/F4320319880","display_name":"Government of Canada","ror":"https://ror.org/010q4q527"},{"id":"https://openalex.org/F4320319990","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08"},{"id":"https://openalex.org/F4320319994","display_name":"Department of Health and Social Care","ror":"https://ror.org/03sbpja79"},{"id":"https://openalex.org/F4320320050","display_name":"Ataxia UK","ror":"https://ror.org/03192vt15"},{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320320320","display_name":"Rosetrees Trust","ror":"https://ror.org/04e3zg361"},{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320320994","display_name":"Canada Research Chairs","ror":"https://ror.org/0517h6h17"},{"id":"https://openalex.org/F4320326644","display_name":"Canada First Research Excellence Fund","ror":"https://ror.org/01ktx4s83"},{"id":"https://openalex.org/F4320334322","display_name":"HORIZON EUROPE Framework Programme","ror":null},{"id":"https://openalex.org/F4320334506","display_name":"Canadian Institutes of Health Research","ror":"https://ror.org/01gavpb45"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320335322","display_name":"European Regional Development Fund","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320336709","display_name":"NIHR Cambridge Biomedical Research Centre","ror":"https://ror.org/05m8dr349"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":45,"referenced_works":["https://openalex.org/W1605866475","https://openalex.org/W1624173645","https://openalex.org/W1968668235","https://openalex.org/W2007480676","https://openalex.org/W2012859692","https://openalex.org/W2015260212","https://openalex.org/W2017576033","https://openalex.org/W2032806627","https://openalex.org/W2034663182","https://openalex.org/W2036943768","https://openalex.org/W2057383852","https://openalex.org/W2057429807","https://openalex.org/W2064713079","https://openalex.org/W2067070422","https://openalex.org/W2089508502","https://openalex.org/W2090078115","https://openalex.org/W2126779593","https://openalex.org/W2136882542","https://openalex.org/W2159470622","https://openalex.org/W2169887688","https://openalex.org/W2612344132","https://openalex.org/W2762287779","https://openalex.org/W2775555641","https://openalex.org/W2800892557","https://openalex.org/W2806394352","https://openalex.org/W2893702756","https://openalex.org/W2899396140","https://openalex.org/W3017347363","https://openalex.org/W3024239323","https://openalex.org/W3111161654","https://openalex.org/W3117622225","https://openalex.org/W3161205307","https://openalex.org/W4206732962","https://openalex.org/W4210875960","https://openalex.org/W4281790889","https://openalex.org/W4293162032","https://openalex.org/W4293832947","https://openalex.org/W4302871475","https://openalex.org/W4385336110","https://openalex.org/W4389866396","https://openalex.org/W4391216271","https://openalex.org/W4393996955","https://openalex.org/W4405187234","https://openalex.org/W4411755012","https://openalex.org/W4412653770"],"related_works":[],"abstract_inverted_index":{"INTRODUCTION:":[0],"Charcot":[1],"Marie":[2],"Tooth":[3],"neuropathies":[4],"arise":[5],"from":[6],"diverse":[7],"genetic":[8,245],"disturbances":[9],"that":[10,233],"impair":[11],"axonal":[12,37],"structure":[13],"or":[14],"myelin":[15],"integrity.":[16],"Variants":[17],"in":[18,70,82,124,150,159,177,235],"NEFL,":[19],"encoding":[20],"the":[21,50,89,115,160,165,178,185,213,217,244],"light":[22],"chain":[23],"of":[24,30,53,92,130,209,229,249],"neurofilaments,":[25],"represent":[26],"a":[27,64,76],"rare":[28],"cause":[29],"CMT":[31],"and":[32,39,47,99,107,127,147,156,193,224,231,246],"may":[33],"disrupt":[34],"filament":[35],"assembly,":[36],"transport,":[38],"cytoskeletal":[40],"stability.":[41],"Because":[42],"NEFL":[43],"variants":[44],"are":[45],"uncommon":[46],"phenotypes":[48],"variable,":[49],"pathogenic":[51,90],"relevance":[52],"individual":[54],"substitutions":[55],"is":[56],"often":[57],"difficult":[58],"to":[59,87,143],"determine.":[60],"Here,":[61],"we":[62],"identified":[63],"previously":[65],"unreported":[66],"missense":[67],"variant,":[68,78],"p.(Leu97Ile),":[69],"three":[71],"affected":[72],"individuals.":[73],"In":[74],"two,":[75],"second":[77],"p.(Arg206Ser),":[79],"was":[80,175],"present":[81],"cis.":[83],"We":[84],"therefore":[85],"aimed":[86],"investigate":[88],"impact":[91],"this":[93],"allele":[94],"constellation":[95],"using":[96,121],"clinical,":[97,222],"biochemical,":[98,223],"structural":[100,225],"approaches.":[101],"METHODS:":[102],"Neurological":[103],"examination,":[104],"CMTNS":[105],"scoring,":[106],"electrophysiological":[108],"studies":[109],"were":[110,119,187],"performed.":[111],"Exome":[112],"sequencing":[113],"established":[114],"genotype.":[116],"Variant":[117],"effects":[118,208],"assessed":[120],"serum":[122,172],"biomarkers,":[123],"silico":[125],"modelling":[126,205],"quantitative":[128],"immunofluorescence":[129],"patient-derived":[131],"fibroblasts.":[132],"RESULTS:":[133],"Patients":[134],"showed":[135],"differing":[136],"clinical":[137],"presentations,":[138],"including":[139],"moderate":[140],"adult-onset":[141],"neuropathy":[142],"severe":[144],"early-onset":[145],"disease":[146],"neuromuscular":[148],"abnormalities":[149],"childhood.":[151],"Neurophysiology":[152],"revealed":[153],"mixed":[154],"features,":[155],"conduction":[157],"slowing":[158],"child":[161],"supported":[162],"classification":[163],"within":[164],"CMT1F":[166],"spectrum.":[167],"All":[168],"carriers":[169],"exhibited":[170],"elevated":[171],"NfL;":[173],"CK":[174],"increased":[176,197],"adult":[179],"patients.":[180],"Descriptive":[181],"biomarker":[182],"differences":[183],"between":[184],"patients":[186],"observed":[188],"for":[189],"GDF15,":[190],"FGF21,":[191],"Periaxin,":[192],"NCAM1.":[194],"Fibroblasts":[195],"displayed":[196],"cytoplasmic":[198],"NfL":[199],"without":[200],"altered":[201],"nuclear":[202],"metrics.":[203],"Structural":[204],"predicted":[206],"destabilizing":[207],"both":[210],"substitutions,":[211],"with":[212],"cis":[214,236],"combination":[215],"producing":[216],"strongest":[218],"deviation.":[219],"DISCUSSION:":[220],"Integrated":[221],"evidence":[226],"support":[227],"pathogenicity":[228],"p.(Leu97Ile)":[230],"suggest":[232],"p.(Arg206Ser)":[234],"augments":[237],"its":[238],"biological":[239],"impact.":[240],"These":[241],"findings":[242],"expand":[243],"phenotypic":[247],"spectrum":[248],"NEFL-associated":[250],"CMT1F.":[251]},"counts_by_year":[],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2026-04-23T00:00:00"}
