{"id":"https://openalex.org/W2145852807","doi":"https://doi.org/10.1212/01.wnl.0000178979.19887.f5","title":"A new congenital form of X-linked autophagic vacuolar myopathy","display_name":"A new congenital form of X-linked autophagic vacuolar myopathy","publication_year":2005,"publication_date":"2005-10-11","ids":{"openalex":"https://openalex.org/W2145852807","doi":"https://doi.org/10.1212/01.wnl.0000178979.19887.f5","mag":"2145852807","pmid":"https://pubmed.ncbi.nlm.nih.gov/16217076"},"language":"en","primary_location":{"id":"doi:10.1212/01.wnl.0000178979.19887.f5","doi":"https://doi.org/10.1212/01.wnl.0000178979.19887.f5","is_oa":false,"landing_page_url":"https://doi.org/10.1212/01.wnl.0000178979.19887.f5","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5018616023","display_name":"Chuanzhu Yan","orcid":"https://orcid.org/0000-0002-2191-5184","observed_orcids":["https://orcid.org/0000-0002-2191-5184","https://orcid.org/0000-0001-5698-9960"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4210146211","display_name":"Utano Hospital","ror":"https://ror.org/04rzagz55","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210137409","https://openalex.org/I4210146211"]},{"id":"https://openalex.org/I4405284741","display_name":"National Center Hospital of Neurology and Psychiatry","ror":"https://ror.org/044ryqe56","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405284741"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"C. Yan","raw_affiliation_strings":["From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4210146211","https://openalex.org/I4405284741","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":null,"display_name":"M. Tanaka","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4210146211","display_name":"Utano Hospital","ror":"https://ror.org/04rzagz55","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210137409","https://openalex.org/I4210146211"]},{"id":"https://openalex.org/I4405284741","display_name":"National Center Hospital of Neurology and Psychiatry","ror":"https://ror.org/044ryqe56","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405284741"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"M. Tanaka","raw_affiliation_strings":["From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4210146211","https://openalex.org/I4405284741","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057969283","display_name":"Kazuma Sugie","orcid":"https://orcid.org/0000-0003-0148-4687","observed_orcids":["https://orcid.org/0000-0003-0148-4687"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4210146211","display_name":"Utano Hospital","ror":"https://ror.org/04rzagz55","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210137409","https://openalex.org/I4210146211"]},{"id":"https://openalex.org/I4405284741","display_name":"National Center Hospital of Neurology and Psychiatry","ror":"https://ror.org/044ryqe56","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405284741"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"K. Sugie","raw_affiliation_strings":["From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4210146211","https://openalex.org/I4405284741","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017347875","display_name":"T. Nobutoki","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4210146211","display_name":"Utano Hospital","ror":"https://ror.org/04rzagz55","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210137409","https://openalex.org/I4210146211"]},{"id":"https://openalex.org/I4405284741","display_name":"National Center Hospital of Neurology and Psychiatry","ror":"https://ror.org/044ryqe56","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405284741"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"T. Nobutoki","raw_affiliation_strings":["From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4210146211","https://openalex.org/I4405284741","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113452833","display_name":"Man Woo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4210146211","display_name":"Utano Hospital","ror":"https://ror.org/04rzagz55","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210137409","https://openalex.org/I4210146211"]},{"id":"https://openalex.org/I4405284741","display_name":"National Center Hospital of Neurology and Psychiatry","ror":"https://ror.org/044ryqe56","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405284741"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"M. Woo","raw_affiliation_strings":["From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4210146211","https://openalex.org/I4405284741","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026280529","display_name":"Nagako Murase","orcid":"https://orcid.org/0000-0003-3317-8748","observed_orcids":["https://orcid.org/0000-0003-3317-8748"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4210146211","display_name":"Utano Hospital","ror":"https://ror.org/04rzagz55","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210137409","https://openalex.org/I4210146211"]},{"id":"https://openalex.org/I4405284741","display_name":"National Center Hospital of Neurology and Psychiatry","ror":"https://ror.org/044ryqe56","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405284741"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"N. Murase","raw_affiliation_strings":["From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4210146211","https://openalex.org/I4405284741","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Y. Higuchi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4210146211","display_name":"Utano Hospital","ror":"https://ror.org/04rzagz55","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210137409","https://openalex.org/I4210146211"]},{"id":"https://openalex.org/I4405284741","display_name":"National Center Hospital of Neurology and Psychiatry","ror":"https://ror.org/044ryqe56","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405284741"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y. Higuchi","raw_affiliation_strings":["From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4210146211","https://openalex.org/I4405284741","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030937450","display_name":"S. Noguchi","orcid":"https://orcid.org/0000-0001-6165-3716","observed_orcids":["https://orcid.org/0000-0001-6165-3716"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4210146211","display_name":"Utano Hospital","ror":"https://ror.org/04rzagz55","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210137409","https://openalex.org/I4210146211"]},{"id":"https://openalex.org/I4405284741","display_name":"National Center Hospital of Neurology and Psychiatry","ror":"https://ror.org/044ryqe56","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405284741"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"S. Noguchi","raw_affiliation_strings":["From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4210146211","https://openalex.org/I4405284741","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109112309","display_name":"Ikuya Nonaka","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4210146211","display_name":"Utano Hospital","ror":"https://ror.org/04rzagz55","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210137409","https://openalex.org/I4210146211"]},{"id":"https://openalex.org/I4405284741","display_name":"National Center Hospital of Neurology and Psychiatry","ror":"https://ror.org/044ryqe56","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405284741"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"I. Nonaka","raw_affiliation_strings":["From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4210146211","https://openalex.org/I4405284741","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008182946","display_name":"Yukiko K Hayashi","orcid":"https://orcid.org/0000-0003-4043-1756","observed_orcids":["https://orcid.org/0000-0003-4043-1756"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4210146211","display_name":"Utano Hospital","ror":"https://ror.org/04rzagz55","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210137409","https://openalex.org/I4210146211"]},{"id":"https://openalex.org/I4405284741","display_name":"National Center Hospital of Neurology and Psychiatry","ror":"https://ror.org/044ryqe56","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405284741"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y. K. Hayashi","raw_affiliation_strings":["From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4210146211","https://openalex.org/I4405284741","https://openalex.org/I4405287400"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5071478982","display_name":"Ichizo Nishino","orcid":"https://orcid.org/0000-0001-9452-112X","observed_orcids":["https://orcid.org/0000-0001-9452-112X"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4210146211","display_name":"Utano Hospital","ror":"https://ror.org/04rzagz55","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210137409","https://openalex.org/I4210146211"]},{"id":"https://openalex.org/I4405284741","display_name":"National Center Hospital of Neurology and Psychiatry","ror":"https://ror.org/044ryqe56","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405284741"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"I. Nishino","raw_affiliation_strings":["From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neuromuscular Research (Drs. Yan, Tanaka, Sugie, Noguchi, Nonaka, Hayashi, and Nishino), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders (Drs. Nobutoki and Nonaka), National Center of Neurology and Psychiatry, Kodaira, Tokyo; Dr. Woo's Pediatric Clinic (Dr. Woo), Kyoto; Departments of Neurology (Dr. Murase) and Pediatrics (Dr. Higuchi), National Hospital Organization Utano National Hospital, Kyoto, Japan; and Department of","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4210146211","https://openalex.org/I4405284741","https://openalex.org/I4405287400"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.6202,"has_fulltext":false,"cited_by_count":39,"citation_normalized_percentile":{"value":0.58650535,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"65","issue":"7","first_page":"1132","last_page":"1134"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.7339000105857849,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.7339000105857849,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10587","display_name":"Autophagy in Disease and Therapy","score":0.09380000084638596,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.05380000174045563,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-hypotonia","display_name":"congenital hypotonia","score":0.906000018119812},{"id":"https://openalex.org/keywords/dyspnea","display_name":"dyspnea","score":0.8299999833106995},{"id":"https://openalex.org/keywords/dysphagia","display_name":"dysphagia","score":0.9990000128746033},{"id":"https://openalex.org/keywords/delayed-motor-milestones","display_name":"delayed motor milestones","score":0.7009999752044678},{"id":"https://openalex.org/keywords/autophagosomes","display_name":"autophagosomes","score":0.8999999761581421},{"id":"https://openalex.org/keywords/basement-membrane","display_name":"basement membrane","score":0.7540000081062317},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.9169999957084656},{"id":"https://openalex.org/keywords/allelic-variants","display_name":"allelic variants","score":0.7329999804496765},{"id":"https://openalex.org/keywords/x-linked-myopathy","display_name":"X-linked myopathy","score":0.6579999923706055}],"concepts":[{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.8140473365783691},{"id":"https://openalex.org/C203522944","wikidata":"https://www.wikidata.org/wiki/Q288322","display_name":"Autophagy","level":3,"score":0.6118850708007812},{"id":"https://openalex.org/C2779438767","wikidata":"https://www.wikidata.org/wiki/Q112412","display_name":"Congenital myopathy","level":4,"score":0.580620527267456},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5195322632789612},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.5104449987411499},{"id":"https://openalex.org/C2780596822","wikidata":"https://www.wikidata.org/wiki/Q623289","display_name":"Dysphagia","level":2,"score":0.4827098846435547},{"id":"https://openalex.org/C102568950","wikidata":"https://www.wikidata.org/wiki/Q127702","display_name":"Vacuole","level":3,"score":0.46492552757263184},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.46119973063468933},{"id":"https://openalex.org/C2779333224","wikidata":"https://www.wikidata.org/wiki/Q809756","display_name":"Basal lamina","level":3,"score":0.41386300325393677},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.29282811284065247},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.2842538356781006},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.19900333881378174},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.11808902025222778},{"id":"https://openalex.org/C190062978","wikidata":"https://www.wikidata.org/wiki/Q79899","display_name":"Cytoplasm","level":2,"score":0.11109906435012817},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.06770762801170349},{"id":"https://openalex.org/C190283241","wikidata":"https://www.wikidata.org/wiki/Q14599311","display_name":"Apoptosis","level":2,"score":0.0},{"id":"https://openalex.org/C87555872","wikidata":"https://www.wikidata.org/wiki/Q3141316","display_name":"Ultrastructure","level":2,"score":0.0},{"id":"https://openalex.org/C2779999465","wikidata":"https://www.wikidata.org/wiki/Q2094702","display_name":"Muscle biopsy","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000953","descriptor_name":"Antigens, Protozoan","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000954","descriptor_name":"Antigens, Surface","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001343","descriptor_name":"Autophagy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001842","descriptor_name":"Bone and Bones","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008126","descriptor_name":"Lod Score","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":"D009133","descriptor_name":"Muscular Atrophy","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009133","descriptor_name":"Muscular Atrophy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009133","descriptor_name":"Muscular Atrophy","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D012508","descriptor_name":"Sarcolemma","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012508","descriptor_name":"Sarcolemma","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D014617","descriptor_name":"Vacuoles","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014617","descriptor_name":"Vacuoles","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014617","descriptor_name":"Vacuoles","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D018908","descriptor_name":"Muscle Weakness","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D018908","descriptor_name":"Muscle Weakness","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018908","descriptor_name":"Muscle Weakness","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1212/01.wnl.0000178979.19887.f5","doi":"https://doi.org/10.1212/01.wnl.0000178979.19887.f5","is_oa":false,"landing_page_url":"https://doi.org/10.1212/01.wnl.0000178979.19887.f5","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},{"id":"pmid:16217076","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16217076","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":"Neurology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W158753768","https://openalex.org/W194075173","https://openalex.org/W1966303950","https://openalex.org/W1984671216","https://openalex.org/W1998730944","https://openalex.org/W2000937662","https://openalex.org/W2107871825","https://openalex.org/W2109716633","https://openalex.org/W2151170909","https://openalex.org/W2153061724"],"related_works":["https://openalex.org/W2334588552","https://openalex.org/W2091064135","https://openalex.org/W2049254119","https://openalex.org/W2990997439","https://openalex.org/W2060764911","https://openalex.org/W4295078739","https://openalex.org/W2067995724","https://openalex.org/W2070385864","https://openalex.org/W2063910444","https://openalex.org/W2140275285"],"abstract_inverted_index":{"In":[0],"a":[1],"new":[2,62],"family":[3],"with":[4,15,21,30,36,53],"X-linked":[5,51],"congenital":[6,16],"autophagic":[7,28],"vacuolar":[8],"myopathy":[9,52],"(AVM),":[10],"seven":[11],"affected":[12],"boys":[13],"presented":[14],"hypotonia,":[17],"dyspnea,":[18],"and":[19,45,64],"dysphagia":[20],"delayed":[22],"motor":[23],"milestones.":[24],"Muscle":[25],"pathology":[26],"revealed":[27],"vacuoles":[29],"sarcolemmal":[31,38],"features,":[32],"multilayered":[33],"basal":[34],"lamina":[35],"marked":[37],"deposition":[39],"of":[40],"C5-9":[41],"membrane":[42],"attack":[43],"complex":[44],"calcium,":[46],"histologically":[47],"indistinguishable":[48],"from":[49],"childhood-onset":[50],"excessive":[54],"autophagy":[55],"(XMEA).":[56],"Haplotype":[57],"analysis":[58],"suggests":[59],"that":[60],"this":[61],"AVM":[63],"XMEA":[65],"may":[66],"be":[67],"allelic":[68],"despite":[69],"different":[70],"clinical":[71],"presentations.":[72]},"counts_by_year":[{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
