{"id":"https://openalex.org/W7225137462","doi":"https://doi.org/10.1002/acn3.70561","title":"Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients","display_name":"Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients","publication_year":2026,"publication_date":"2026-11-03","ids":{"openalex":"https://openalex.org/W7225137462","doi":"https://doi.org/10.1002/acn3.70561","pmid":"https://pubmed.ncbi.nlm.nih.gov/42974926"},"language":"en","primary_location":{"id":"doi:10.1002/acn3.70561","doi":"https://doi.org/10.1002/acn3.70561","is_oa":true,"landing_page_url":"https://doi.org/10.1002/acn3.70561","pdf_url":null,"source":{"id":"https://openalex.org/S2764382054","display_name":"Annals of Clinical and Translational Neurology","issn_l":"2328-9503","issn":["2328-9503"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Clinical and Translational Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1002/acn3.70561","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5034117275","display_name":"Andrea Gangfu\u00df","orcid":"https://orcid.org/0000-0002-9975-0092","observed_orcids":["https://orcid.org/0000-0002-9975-0092"]},"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":true,"raw_author_name":"Andrea Gangfu\u00df","raw_affiliation_strings":["Department of Pediatric Neurology University Duisburg\u2010Essen  Essen Germany"],"raw_orcid":"https://orcid.org/0000-0002-9975-0092","affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology University Duisburg\u2010Essen  Essen Germany","institution_ids":["https://openalex.org/I62318514"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030562644","display_name":"Vykuntaraju K. Gowda","orcid":"https://orcid.org/0000-0001-7244-0492","observed_orcids":["https://orcid.org/0000-0001-7244-0492","https://orcid.org/0000-0002-1644-2212"]},"institutions":[{"id":"https://openalex.org/I4210158200","display_name":"Indira Gandhi Institute of Child Health","ror":"https://ror.org/04saq4y86","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I4210158200"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Vykuntaraju K. Gowda","raw_affiliation_strings":["Department of Pediatric Neurology Indira Gandhi Institute of Child Health  Bangalore India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology Indira Gandhi Institute of Child Health  Bangalore India","institution_ids":["https://openalex.org/I4210158200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084032128","display_name":"Daniel Natera\u2010de Benito","orcid":"https://orcid.org/0000-0001-7764-2085","observed_orcids":["https://orcid.org/0000-0001-7764-2085"]},"institutions":[{"id":"https://openalex.org/I1307323311","display_name":"Hospital Sant Joan de D\u00e9u Barcelona","ror":"https://ror.org/001jx2139","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I1307323311"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Daniel Natera\u2010de Benito","raw_affiliation_strings":["Neuromuscular Unit, Neurology Department Hospital Sant Joan de D\u00e9u  Barcelona Spain"],"raw_orcid":"https://orcid.org/0000-0001-7764-2085","affiliations":[{"raw_affiliation_string":"Neuromuscular Unit, Neurology Department Hospital Sant Joan de D\u00e9u  Barcelona Spain","institution_ids":["https://openalex.org/I1307323311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024809974","display_name":"Pinki Munot","orcid":"https://orcid.org/0000-0001-9900-798X","observed_orcids":["https://orcid.org/0000-0001-9900-798X"]},"institutions":[{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Pinki Munot","raw_affiliation_strings":["Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children  London UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children  London UK","institution_ids":["https://openalex.org/I2800129641","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045813712","display_name":"Maria Vanegas","orcid":"https://orcid.org/0000-0002-1535-4835","observed_orcids":["https://orcid.org/0000-0002-1535-4835"]},"institutions":[{"id":"https://openalex.org/I125671874","display_name":"National Health Service","ror":"https://ror.org/02wnqcb97","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I125671874","https://openalex.org/I1311074006"]},{"id":"https://openalex.org/I200166805","display_name":"Guy's and St Thomas' NHS Foundation Trust","ror":"https://ror.org/00j161312","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200166805"]},{"id":"https://openalex.org/I4210144851","display_name":"Evelina London Children's Healthcare","ror":"https://ror.org/058pgtg13","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200166805","https://openalex.org/I4210144851"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Maria Vanegas","raw_affiliation_strings":["Children's Neurosciences Evelina London Children's Hospital at Guy's and St Thomas' National Health Service Foundation Trust  London UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Neurosciences Evelina London Children's Hospital at Guy's and St Thomas' National Health Service Foundation Trust  London UK","institution_ids":["https://openalex.org/I125671874","https://openalex.org/I200166805","https://openalex.org/I4210144851"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062307305","display_name":"Alejandra Darling","orcid":"https://orcid.org/0000-0003-0344-5809","observed_orcids":["https://orcid.org/0000-0003-0344-5809"]},"institutions":[{"id":"https://openalex.org/I1307323311","display_name":"Hospital Sant Joan de D\u00e9u Barcelona","ror":"https://ror.org/001jx2139","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I1307323311"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Alejandra Darling","raw_affiliation_strings":["Metabolic Unit, Movement Disorders Unit, Neurology Department Hospital Sant Joan de D\u00e9u  Barcelona Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolic Unit, Movement Disorders Unit, Neurology Department Hospital Sant Joan de D\u00e9u  Barcelona Spain","institution_ids":["https://openalex.org/I1307323311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033063748","display_name":"Constanze Reutlinger","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I206895457","display_name":"University of Siegen","ror":"https://ror.org/02azyry73","country_code":"DE","type":"education","lineage":["https://openalex.org/I206895457"]},{"id":"https://openalex.org/I2800742272","display_name":"Folkwang University of the Arts","ror":"https://ror.org/03gf02c22","country_code":"DE","type":"education","lineage":["https://openalex.org/I2800742272"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Constanze Reutlinger","raw_affiliation_strings":["Department of Pediatric Neurology DRK\u2010Kinderklinik Siegen gGmbH  Siegen Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology DRK\u2010Kinderklinik Siegen gGmbH  Siegen Germany","institution_ids":["https://openalex.org/I206895457","https://openalex.org/I2800742272"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000200466","display_name":"Laura Carrera\u2010Garc\u00eda","orcid":"https://orcid.org/0000-0003-4762-7591","observed_orcids":["https://orcid.org/0000-0003-4762-7591"]},"institutions":[{"id":"https://openalex.org/I1307323311","display_name":"Hospital Sant Joan de D\u00e9u Barcelona","ror":"https://ror.org/001jx2139","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I1307323311"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Laura Carrera\u2010Garcia","raw_affiliation_strings":["Neuromuscular Unit, Neurology Department Hospital Sant Joan de D\u00e9u  Barcelona Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neuromuscular Unit, Neurology Department Hospital Sant Joan de D\u00e9u  Barcelona Spain","institution_ids":["https://openalex.org/I1307323311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006062455","display_name":"Gilbert Wunderlich","orcid":"https://orcid.org/0000-0001-5544-335X","observed_orcids":["https://orcid.org/0000-0001-5544-335X"]},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]},{"id":"https://openalex.org/I4210153755","display_name":"University Hospital Cologne","ror":"https://ror.org/05mxhda18","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210153755"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Gilbert Wunderlich","raw_affiliation_strings":["Department of Neurology and Center for Rare Diseases, Faculty of Medicine University Hospital Cologne  Cologne Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Center for Rare Diseases, Faculty of Medicine University Hospital Cologne  Cologne Germany","institution_ids":["https://openalex.org/I180923762","https://openalex.org/I4210153755"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080605197","display_name":"Heike K\u00f6lbel","orcid":"https://orcid.org/0000-0001-9629-7053","observed_orcids":["https://orcid.org/0000-0001-9629-7053"]},"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":"Heike K\u00f6lbel","raw_affiliation_strings":["Department of Pediatric Neurology University Duisburg\u2010Essen  Essen Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology University Duisburg\u2010Essen  Essen Germany","institution_ids":["https://openalex.org/I62318514"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035407848","display_name":"Burkhard St\u00fcve","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I206895457","display_name":"University of Siegen","ror":"https://ror.org/02azyry73","country_code":"DE","type":"education","lineage":["https://openalex.org/I206895457"]},{"id":"https://openalex.org/I2800742272","display_name":"Folkwang University of the Arts","ror":"https://ror.org/03gf02c22","country_code":"DE","type":"education","lineage":["https://openalex.org/I2800742272"]},{"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":"Burkhard St\u00fcve","raw_affiliation_strings":["Department of Pediatric Neurology DRK\u2010Kinderklinik Siegen gGmbH  Siegen Germany","Department of Pediatric Neurology University Duisburg\u2010Essen  Essen Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology DRK\u2010Kinderklinik Siegen gGmbH  Siegen Germany","institution_ids":["https://openalex.org/I206895457","https://openalex.org/I2800742272"]},{"raw_affiliation_string":"Department of Pediatric Neurology University Duisburg\u2010Essen  Essen Germany","institution_ids":["https://openalex.org/I62318514"]}]},{"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 University Duisburg\u2010Essen  Essen Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology University Duisburg\u2010Essen  Essen Germany","institution_ids":["https://openalex.org/I62318514"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028271486","display_name":"Luc\u00eda Monfort Belenguer","orcid":"https://orcid.org/0000-0001-5586-164X","observed_orcids":["https://orcid.org/0000-0001-5586-164X"]},"institutions":[{"id":"https://openalex.org/I4210094406","display_name":"Hospital Cl\u00ednico Universitario de Valencia","ror":"https://ror.org/00hpnj894","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210094406"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Luc\u00eda Monfort Belenguer","raw_affiliation_strings":["Pediatric Neurology Cl\u00ednic Universitary Hospital of Valencia  Valencia Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Neurology Cl\u00ednic Universitary Hospital of Valencia  Valencia Spain","institution_ids":["https://openalex.org/I4210094406"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069159003","display_name":"Diana B\u00e2rc\u0103","orcid":"https://orcid.org/0000-0001-6223-6383","observed_orcids":["https://orcid.org/0000-0001-6223-6383"]},"institutions":[{"id":"https://openalex.org/I162051807","display_name":"Carol Davila University of Medicine and Pharmacy","ror":"https://ror.org/04fm87419","country_code":"RO","type":"education","lineage":["https://openalex.org/I162051807"]},{"id":"https://openalex.org/I4210146173","display_name":"Spitalul Clinic de Psihiatrie Alexandru Obregia","ror":"https://ror.org/04ecp7x75","country_code":"RO","type":"healthcare","lineage":["https://openalex.org/I4210146173"]}],"countries":["RO"],"is_corresponding":false,"raw_author_name":"Diana\u2010Gabriela Barca","raw_affiliation_strings":["Carol Davila University of Medicine and Pharmacy  Bucharest Romania","Pediatric Neurology Department, Center of Expertise for Rare Diseases in Pediatric Neurology \u201cProf. Dr. Alexandru Obregia\u201d Clinical Psychiatry Hospital  Bucharest Romania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Carol Davila University of Medicine and Pharmacy  Bucharest Romania","institution_ids":["https://openalex.org/I162051807"]},{"raw_affiliation_string":"Pediatric Neurology Department, Center of Expertise for Rare Diseases in Pediatric Neurology \u201cProf. Dr. Alexandru Obregia\u201d Clinical Psychiatry Hospital  Bucharest Romania","institution_ids":["https://openalex.org/I4210146173"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5115077916","display_name":"Viveka Santhosh Reddy C","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158200","display_name":"Indira Gandhi Institute of Child Health","ror":"https://ror.org/04saq4y86","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I4210158200"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Viveka Santhosh Reddy C","raw_affiliation_strings":["Department of Pediatric Neurology Indira Gandhi Institute of Child Health  Bangalore India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology Indira Gandhi Institute of Child Health  Bangalore India","institution_ids":["https://openalex.org/I4210158200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062209486","display_name":"Varunvenkat M. Srinivasan","orcid":"https://orcid.org/0000-0003-3892-4439","observed_orcids":["https://orcid.org/0000-0003-3892-4439"]},"institutions":[{"id":"https://openalex.org/I4210158200","display_name":"Indira Gandhi Institute of Child Health","ror":"https://ror.org/04saq4y86","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I4210158200"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Varunvenkat M. Srinivasan","raw_affiliation_strings":["Department of Pediatric Neurology Indira Gandhi Institute of Child Health  Bangalore India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology Indira Gandhi Institute of Child Health  Bangalore India","institution_ids":["https://openalex.org/I4210158200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065909576","display_name":"Cristina Molina\u2010Anguita","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098336","display_name":"Consorci Sanitari de Terrassa","ror":"https://ror.org/01239b432","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210098336"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Cristina Molina Anguita","raw_affiliation_strings":["Pediatric Neurology Consorci Sanitari de Terrassa  Barcelona Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Neurology Consorci Sanitari de Terrassa  Barcelona Spain","institution_ids":["https://openalex.org/I4210098336"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031997713","display_name":"Heinz Jungbluth","orcid":"https://orcid.org/0000-0002-7159-3427","observed_orcids":["https://orcid.org/0000-0002-7159-3427"]},"institutions":[{"id":"https://openalex.org/I125671874","display_name":"National Health Service","ror":"https://ror.org/02wnqcb97","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I125671874","https://openalex.org/I1311074006"]},{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]},{"id":"https://openalex.org/I200166805","display_name":"Guy's and St Thomas' NHS Foundation Trust","ror":"https://ror.org/00j161312","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200166805"]},{"id":"https://openalex.org/I4210144851","display_name":"Evelina London Children's Healthcare","ror":"https://ror.org/058pgtg13","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200166805","https://openalex.org/I4210144851"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Heinz Jungbluth","raw_affiliation_strings":["Children's Neurosciences Evelina London Children's Hospital at Guy's and St Thomas' National Health Service Foundation Trust  London UK","Faculty of Life Sciences and Medicine Randall Centre for Cell and Molecular Biophysics, King's College London  London UK"],"raw_orcid":"https://orcid.org/0000-0002-7159-3427","affiliations":[{"raw_affiliation_string":"Children's Neurosciences Evelina London Children's Hospital at Guy's and St Thomas' National Health Service Foundation Trust  London UK","institution_ids":["https://openalex.org/I125671874","https://openalex.org/I200166805","https://openalex.org/I4210144851"]},{"raw_affiliation_string":"Faculty of Life Sciences and Medicine Randall Centre for Cell and Molecular Biophysics, King's College London  London UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036641121","display_name":"Hormos Salimi Dafsari","orcid":"https://orcid.org/0000-0003-3483-5009","observed_orcids":["https://orcid.org/0000-0003-3483-5009"]},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]},{"id":"https://openalex.org/I4210138270","display_name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases","ror":"https://ror.org/04c4bwh63","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210138270"]},{"id":"https://openalex.org/I4210153755","display_name":"University Hospital Cologne","ror":"https://ror.org/05mxhda18","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210153755"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Hormos Salimi Dafsari","raw_affiliation_strings":["Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne University of Cologne  Cologne Germany","Max\u2010Planck\u2010Institute for Biology of Ageing, Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD)  Cologne Germany"],"raw_orcid":"https://orcid.org/0000-0003-3483-5009","affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne University of Cologne  Cologne Germany","institution_ids":["https://openalex.org/I180923762","https://openalex.org/I4210153755"]},{"raw_affiliation_string":"Max\u2010Planck\u2010Institute for Biology of Ageing, Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD)  Cologne Germany","institution_ids":["https://openalex.org/I4210138270"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063302664","display_name":"Thomas E Rossor","orcid":"https://orcid.org/0000-0001-5472-1813","observed_orcids":["https://orcid.org/0000-0001-5472-1813"]},"institutions":[{"id":"https://openalex.org/I125671874","display_name":"National Health Service","ror":"https://ror.org/02wnqcb97","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I125671874","https://openalex.org/I1311074006"]},{"id":"https://openalex.org/I200166805","display_name":"Guy's and St Thomas' NHS Foundation Trust","ror":"https://ror.org/00j161312","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200166805"]},{"id":"https://openalex.org/I4210144851","display_name":"Evelina London Children's Healthcare","ror":"https://ror.org/058pgtg13","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200166805","https://openalex.org/I4210144851"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Thomas Rossor","raw_affiliation_strings":["Children's Neurosciences Evelina London Children's Hospital at Guy's and St Thomas' National Health Service Foundation Trust  London UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Neurosciences Evelina London Children's Hospital at Guy's and St Thomas' National Health Service Foundation Trust  London UK","institution_ids":["https://openalex.org/I125671874","https://openalex.org/I200166805","https://openalex.org/I4210144851"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082974155","display_name":"Johann B\u00f6hm","orcid":"https://orcid.org/0000-0001-8019-9504","observed_orcids":["https://orcid.org/0000-0001-8019-9504"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210086872","display_name":"Institut de g\u00e9n\u00e9tique et de biologie mol\u00e9culaire et cellulaire","ror":"https://ror.org/0015ws592","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872","https://openalex.org/I4210096427","https://openalex.org/I68947357"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Johann B\u00f6hm","raw_affiliation_strings":["Department of Translational Medicine and Neurogenetics Institute of Genetics and Molecular and Cellular Biology (IGBMC), INSERM U1258, CNRS UMR7104, University of Strasbourg  Illkirch France"],"raw_orcid":"https://orcid.org/0000-0001-8019-9504","affiliations":[{"raw_affiliation_string":"Department of Translational Medicine and Neurogenetics Institute of Genetics and Molecular and Cellular Biology (IGBMC), INSERM U1258, CNRS UMR7104, University of Strasbourg  Illkirch France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]}]},{"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\u2010Schmidt","raw_affiliation_strings":["Department of Pediatric Neurology University Duisburg\u2010Essen  Essen Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology University Duisburg\u2010Essen  Essen Germany","institution_ids":["https://openalex.org/I62318514"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5056706108","display_name":"Andreas Roos","orcid":"https://orcid.org/0000-0003-2833-0928","observed_orcids":["https://orcid.org/0000-0003-2833-0928","https://orcid.org/0000-0003-2050-2115"]},"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/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/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":["Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute  Ottawa Ontario Canada","Department of Neurology, Heimer Institute for Muscle Research University Hospital Bergmannsheil  Bochum Germany","Department of Pediatric Neurology University Duisburg\u2010Essen  Essen Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute  Ottawa Ontario Canada","institution_ids":["https://openalex.org/I2799330578"]},{"raw_affiliation_string":"Department of Neurology, Heimer Institute for Muscle Research University Hospital Bergmannsheil  Bochum Germany","institution_ids":["https://openalex.org/I4210139845"]},{"raw_affiliation_string":"Department of Pediatric Neurology University Duisburg\u2010Essen  Essen Germany","institution_ids":["https://openalex.org/I62318514"]}]}],"institutions":[],"countries_distinct_count":7,"institutions_distinct_count":23,"corresponding_author_ids":["https://openalex.org/A5034117275"],"corresponding_institution_ids":["https://openalex.org/I62318514"],"apc_list":{"value":4100,"currency":"USD","value_usd":4100},"apc_paid":{"value":4100,"currency":"USD","value_usd":4100},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.7760496,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"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":0.9502000212669373,"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":0.9502000212669373,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.017000000923871994,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.011099999770522118,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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":[],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7767999768257141},{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.6484000086784363},{"id":"https://openalex.org/C2780596555","wikidata":"https://www.wikidata.org/wiki/Q206901","display_name":"Amyotrophic lateral sclerosis","level":3,"score":0.6309000253677368},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5705999732017517},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.531499981880188},{"id":"https://openalex.org/C2778261627","wikidata":"https://www.wikidata.org/wiki/Q2608695","display_name":"Movement disorders","level":3,"score":0.5299000144004822},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4700999855995178},{"id":"https://openalex.org/C169900460","wikidata":"https://www.wikidata.org/wiki/Q2200417","display_name":"Cognition","level":2,"score":0.4410000145435333},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.438400000333786},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3601999878883362},{"id":"https://openalex.org/C545706735","wikidata":"https://www.wikidata.org/wiki/Q9404","display_name":"Nervous system","level":2,"score":0.3499000072479248},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.3382999897003174},{"id":"https://openalex.org/C201903717","wikidata":"https://www.wikidata.org/wiki/Q1778788","display_name":"Cohort study","level":2,"score":0.33649998903274536},{"id":"https://openalex.org/C3020646490","wikidata":"https://www.wikidata.org/wiki/Q25203551","display_name":"Clinical phenotype","level":4,"score":0.33550000190734863},{"id":"https://openalex.org/C99508421","wikidata":"https://www.wikidata.org/wiki/Q2678675","display_name":"Physical medicine and rehabilitation","level":1,"score":0.33230000734329224},{"id":"https://openalex.org/C545314008","wikidata":"https://www.wikidata.org/wiki/Q169953","display_name":"Peripheral nervous system","level":3,"score":0.32910001277923584},{"id":"https://openalex.org/C167135981","wikidata":"https://www.wikidata.org/wiki/Q2146302","display_name":"Retrospective cohort study","level":2,"score":0.3248000144958496},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.3116999864578247},{"id":"https://openalex.org/C143409427","wikidata":"https://www.wikidata.org/wiki/Q161238","display_name":"Magnetic resonance imaging","level":2,"score":0.3091000020503998},{"id":"https://openalex.org/C16568411","wikidata":"https://www.wikidata.org/wiki/Q83042","display_name":"Neurology","level":2,"score":0.3025999963283539},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3012999892234802},{"id":"https://openalex.org/C2776752467","wikidata":"https://www.wikidata.org/wiki/Q1133903","display_name":"Motor neuron","level":3,"score":0.29330000281333923},{"id":"https://openalex.org/C176777502","wikidata":"https://www.wikidata.org/wiki/Q4774623","display_name":"Anticipation (artificial intelligence)","level":2,"score":0.29249998927116394},{"id":"https://openalex.org/C2779281540","wikidata":"https://www.wikidata.org/wiki/Q5062122","display_name":"Central nervous system disease","level":2,"score":0.2906000018119812},{"id":"https://openalex.org/C2777427615","wikidata":"https://www.wikidata.org/wiki/Q954257","display_name":"Degenerative disease","level":3,"score":0.28999999165534973},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.28679999709129333},{"id":"https://openalex.org/C2780640218","wikidata":"https://www.wikidata.org/wiki/Q8277","display_name":"Multiple sclerosis","level":2,"score":0.28290000557899475},{"id":"https://openalex.org/C2909079248","wikidata":"https://www.wikidata.org/wiki/Q954257","display_name":"Degenerative Disorder","level":3,"score":0.2800999879837036},{"id":"https://openalex.org/C58693492","wikidata":"https://www.wikidata.org/wiki/Q551875","display_name":"Neuroimaging","level":2,"score":0.27799999713897705},{"id":"https://openalex.org/C2779923321","wikidata":"https://www.wikidata.org/wiki/Q774347","display_name":"Consanguinity","level":2,"score":0.260699987411499},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.25850000977516174},{"id":"https://openalex.org/C205545832","wikidata":"https://www.wikidata.org/wiki/Q17156455","display_name":"Young adult","level":2,"score":0.2563999891281128},{"id":"https://openalex.org/C30036603","wikidata":"https://www.wikidata.org/wiki/Q17125150","display_name":"Severity of illness","level":2,"score":0.25450000166893005}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1002/acn3.70561","doi":"https://doi.org/10.1002/acn3.70561","is_oa":true,"landing_page_url":"https://doi.org/10.1002/acn3.70561","pdf_url":null,"source":{"id":"https://openalex.org/S2764382054","display_name":"Annals of Clinical and Translational Neurology","issn_l":"2328-9503","issn":["2328-9503"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Clinical and Translational Neurology","raw_type":"journal-article"},{"id":"pmid:42974926","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42974926","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":"Annals of clinical and translational neurology","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1002/acn3.70561","doi":"https://doi.org/10.1002/acn3.70561","is_oa":true,"landing_page_url":"https://doi.org/10.1002/acn3.70561","pdf_url":null,"source":{"id":"https://openalex.org/S2764382054","display_name":"Annals of Clinical and Translational Neurology","issn_l":"2328-9503","issn":["2328-9503"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Clinical and Translational Neurology","raw_type":"journal-article"},"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W1495616591","https://openalex.org/W1603758951","https://openalex.org/W1898998173","https://openalex.org/W2000809303","https://openalex.org/W2066864656","https://openalex.org/W2105329822","https://openalex.org/W2132103807","https://openalex.org/W2134893181","https://openalex.org/W2136746857","https://openalex.org/W2136820732","https://openalex.org/W2151614685","https://openalex.org/W2153644376","https://openalex.org/W2322702809","https://openalex.org/W3013144392","https://openalex.org/W3153865902","https://openalex.org/W3166619322","https://openalex.org/W4311868175","https://openalex.org/W4388593005","https://openalex.org/W4388616071","https://openalex.org/W4401504877","https://openalex.org/W4403611285","https://openalex.org/W4408739434","https://openalex.org/W4409969486","https://openalex.org/W4414877860"],"related_works":[],"abstract_inverted_index":{"BACKGROUND:":[0],"Biallelic":[1],"FIG4":[2,96,115,142,181],"variants":[3,97],"classically":[4,138],"cause":[5],"distinct":[6,169],"conditions":[7],"characterized":[8],"by":[9],"peripheral":[10,136],"neuropathy":[11,137],"(Charcot-Marie-Tooth":[12],"disease":[13,39,66,188],"type":[14,67,76],"4J)":[15],"or":[16],"skeletal":[17],"dysplasia":[18],"(Yunis-Var\u00f3n":[19,63],"syndrome).":[20],"However,":[21],"central":[22,191],"nervous":[23,192],"system":[24,193],"involvement":[25],"is":[26],"increasingly":[27],"recognized.":[28],"The":[29],"prevalence":[30],"and":[31,72,89,108,161,175,185,198,204,221],"specific":[32],"characteristics":[33],"of":[34,57,133,179],"movement":[35,109,170,199],"disorders":[36,59],"within":[37],"FIG4-related":[38,58],"remain":[40],"poorly":[41],"characterized,":[42],"prompting":[43],"a":[44,118,153,165,183],"need":[45],"to":[46,98,212],"redefine":[47,99],"its":[48],"clinical":[49,125,146],"continuum.":[50],"OBJECTIVE:":[51],"To":[52],"delineate":[53],"the":[54,124,130,134,144],"phenotypic":[55,120],"spectrum":[56,121,189],"beyond":[60],"established":[61],"entities":[62,126],"syndrome,":[64],"Charcot-Marie-Tooth":[65],"4J,":[68],"bilateral":[69],"temporooccipital":[70],"polymicrogyria,":[71],"amyotrophic":[73],"lateral":[74],"sclerosis":[75],"11)":[77],"using":[78],"an":[79],"international":[80],"multicentre":[81],"cohort.":[82],"METHODS:":[83],"We":[84],"retrospectively":[85],"analyzed":[86],"clinical,":[87],"genetic,":[88],"neurophysiological":[90],"data":[91],"from":[92],"patients":[93,116],"with":[94,140,164,190],"biallelic":[95],"genotype-phenotype":[100],"correlations,":[101],"focusing":[102],"on":[103],"motor":[104,160],"development,":[105],"cognitive":[106,162],"status,":[107],"disorders.":[110],"RESULTS:":[111],"Evaluating":[112],"14":[113],"pediatric":[114],"revealed":[117],"continuous":[119],"rather":[122],"than":[123],"previously":[127],"described":[128],"in":[129,148],"literature.":[131],"Instead":[132],"typical":[135],"associated":[139],"pathogenic":[141],"variants,":[143],"predominant":[145],"picture":[147],"this":[149],"age":[150],"group":[151],"was":[152],"severe":[154,187],"neurodevelopmental":[155],"disorder.":[156],"Patients":[157],"showed":[158],"profound":[159],"delay,":[163],"subset":[166],"additionally":[167],"displaying":[168],"abnormalities":[171,200],"such":[172,201],"as":[173,202],"dystonia":[174,203],"bradykinesia.":[176,205],"CONCLUSION:":[177],"Loss":[178],"functional":[180],"causes":[182],"broader":[184],"more":[186],"involvement,":[194],"including":[195],"intellectual":[196],"disability":[197],"Recognizing":[206],"these":[207],"features":[208],"should":[209],"prompt":[210],"clinicians":[211],"consider":[213],"FIG4-associated":[214],"disorders,":[215],"allowing":[216],"for":[217],"optimized":[218],"patient":[219],"care":[220],"tailored":[222],"therapeutic":[223],"strategies.":[224]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-11-04T00:00:00"}