{"id":"https://openalex.org/W2808195051","doi":"https://doi.org/10.1007/s00415-018-8930-8","title":"GCH1 mutations in dopa-responsive dystonia and Parkinson\u2019s disease","display_name":"GCH1 mutations in dopa-responsive dystonia and Parkinson\u2019s disease","publication_year":2018,"publication_date":"2018-06-14","ids":{"openalex":"https://openalex.org/W2808195051","doi":"https://doi.org/10.1007/s00415-018-8930-8","mag":"2808195051","pmid":"https://pubmed.ncbi.nlm.nih.gov/29948246"},"language":"en","primary_location":{"id":"doi:10.1007/s00415-018-8930-8","doi":"https://doi.org/10.1007/s00415-018-8930-8","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00415-018-8930-8","pdf_url":null,"source":{"id":"https://openalex.org/S175814247","display_name":"Journal of Neurology","issn_l":"0012-1037","issn":["0012-1037","0340-5354","1432-1459"],"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-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of 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/A5110450937","display_name":"Hiroyo Yoshino","orcid":"https://orcid.org/0009-0002-6641-8728","observed_orcids":["https://orcid.org/0009-0002-6641-8728"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hiroyo Yoshino","raw_affiliation_strings":["Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025637651","display_name":"Kenya Nishioka","orcid":"https://orcid.org/0000-0001-8607-9757","observed_orcids":["https://orcid.org/0000-0001-8607-9757"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Kenya Nishioka","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. nishioka@juntendo.ac.jp","Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan"],"raw_orcid":"https://orcid.org/0000-0001-8607-9757","affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. nishioka@juntendo.ac.jp","institution_ids":["https://openalex.org/I34077901"]},{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100699373","display_name":"Yuanzhe Li","orcid":"https://orcid.org/0000-0002-3200-6701","observed_orcids":["https://orcid.org/0000-0002-3200-6701","https://orcid.org/0009-0001-4633-0641"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yuanzhe Li","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102946461","display_name":"Yutaka Oji","orcid":"https://orcid.org/0000-0001-9778-0899","observed_orcids":["https://orcid.org/0000-0001-9778-0899"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yutaka Oji","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027563505","display_name":"Genko Oyama","orcid":"https://orcid.org/0000-0001-7985-5367","observed_orcids":["https://orcid.org/0000-0001-7985-5367"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Genko Oyama","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069360446","display_name":"Taku Hatano","orcid":"https://orcid.org/0000-0002-6808-0444","observed_orcids":["https://orcid.org/0000-0002-6808-0444"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Taku Hatano","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090466353","display_name":"Yutaka Machida","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210155752","display_name":"Tokyo Rinkai Hospital","ror":"https://ror.org/04b5yth62","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210155752"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yutaka Machida","raw_affiliation_strings":["Department of Neurology, Tokyo Rinkai Hospital, 1-4-2 Rinkai-cho, Edogawa-ku, Tokyo, 113-0086, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Tokyo Rinkai Hospital, 1-4-2 Rinkai-cho, Edogawa-ku, Tokyo, 113-0086, Japan","institution_ids":["https://openalex.org/I4210155752"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013584961","display_name":"Yasushi Shimo","orcid":"https://orcid.org/0000-0003-1712-0845","observed_orcids":["https://orcid.org/0000-0003-1712-0845"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yasushi Shimo","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012616978","display_name":"Arisa Hayashida","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Arisa Hayashida","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103891451","display_name":"Aya Ikeda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Aya Ikeda","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069151475","display_name":"Kaoru Mogushi","orcid":"https://orcid.org/0000-0002-2618-8684","observed_orcids":["https://orcid.org/0000-0002-2618-8684"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kaoru Mogushi","raw_affiliation_strings":["Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112097444","display_name":"Yasuro Shibagaki","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405285238","display_name":"Hitachinaka General Hospital","ror":"https://ror.org/051th6q55","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405285238","https://openalex.org/I65143321"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yasuro Shibagaki","raw_affiliation_strings":["Department of Neurology, Hitachinaka General Hospital, 20-1 Ishikawa-cho, Hitachinaka, Ibaraki, 312-0057, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Hitachinaka General Hospital, 20-1 Ishikawa-cho, Hitachinaka, Ibaraki, 312-0057, Japan","institution_ids":["https://openalex.org/I4405285238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112337707","display_name":"Ai Hosaka","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210114927","display_name":"University of Tsukuba Hospital","ror":"https://ror.org/028fz3b89","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210114927"]},{"id":"https://openalex.org/I4405285238","display_name":"Hitachinaka General Hospital","ror":"https://ror.org/051th6q55","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405285238","https://openalex.org/I65143321"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Ai Hosaka","raw_affiliation_strings":["Department of Neurology, Hitachinaka General Hospital, 20-1 Ishikawa-cho, Hitachinaka, Ibaraki, 312-0057, Japan","Department of Neurology, Hitachinaka Medical Education and Research Center, University of Tsukuba Hospital, 20-1 Ishikawa-cho, Hitachinaka, Ibaraki, 312-0057, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Hitachinaka General Hospital, 20-1 Ishikawa-cho, Hitachinaka, Ibaraki, 312-0057, Japan","institution_ids":["https://openalex.org/I4405285238"]},{"raw_affiliation_string":"Department of Neurology, Hitachinaka Medical Education and Research Center, University of Tsukuba Hospital, 20-1 Ishikawa-cho, Hitachinaka, Ibaraki, 312-0057, Japan","institution_ids":["https://openalex.org/I4210114927"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Hiroshi Iwanaga","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210118695","display_name":"Nagasaki Medical Center","ror":"https://ror.org/02qv90y91","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210118695","https://openalex.org/I4210137409"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hiroshi Iwanaga","raw_affiliation_strings":["Department of Neurology, Nagasaki Medical Center, 2-1001-1 Kubara, Omura, Nagasaki, 856-8562, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Nagasaki Medical Center, 2-1001-1 Kubara, Omura, Nagasaki, 856-8562, Japan","institution_ids":["https://openalex.org/I4210118695"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023290101","display_name":"Junko Fujitake","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210104574","display_name":"Kyoto City Hospital","ror":"https://ror.org/01605g366","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210104574","https://openalex.org/I4405282747"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Junko Fujitake","raw_affiliation_strings":["Department of Neurology, Kyoto City Hospital, 1-2 Higashitakada-cho, Mibu, Nakagyo-ku, Kyoto, 604-8845, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Kyoto City Hospital, 1-2 Higashitakada-cho, Mibu, Nakagyo-ku, Kyoto, 604-8845, Japan","institution_ids":["https://openalex.org/I4210104574"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058192832","display_name":"Takekazu Ohi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126637","display_name":"Uji Hospital","ror":"https://ror.org/031jw0220","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210126637"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takekazu Ohi","raw_affiliation_strings":["Department of Neurology, Uji Hospital, 54-2 Shibanohigashi, Gokasho, Uji, Kyoto, 611-0011, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Uji Hospital, 54-2 Shibanohigashi, Gokasho, Uji, Kyoto, 611-0011, Japan","institution_ids":["https://openalex.org/I4210126637"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002595964","display_name":"Daigo Miyazaki","orcid":"https://orcid.org/0000-0002-0032-0077","observed_orcids":["https://orcid.org/0000-0002-0032-0077"]},"institutions":[{"id":"https://openalex.org/I137975476","display_name":"Shinshu University","ror":"https://ror.org/0244rem06","country_code":"JP","type":"education","lineage":["https://openalex.org/I137975476"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Daigo Miyazaki","raw_affiliation_strings":["Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621, Japan","institution_ids":["https://openalex.org/I137975476"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043049060","display_name":"Yoshiki Sekijima","orcid":"https://orcid.org/0000-0002-8132-2743","observed_orcids":["https://orcid.org/0000-0002-8132-2743"]},"institutions":[{"id":"https://openalex.org/I137975476","display_name":"Shinshu University","ror":"https://ror.org/0244rem06","country_code":"JP","type":"education","lineage":["https://openalex.org/I137975476"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshiki Sekijima","raw_affiliation_strings":["Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621, Japan","institution_ids":["https://openalex.org/I137975476"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112683859","display_name":"Mitsuaki Oki","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126884977","display_name":"Kansai Medical University","ror":"https://ror.org/001xjdh50","country_code":"JP","type":"education","lineage":["https://openalex.org/I126884977"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Mitsuaki Oki","raw_affiliation_strings":["Department of Neurology, Kansai Medical University, 2-5-1 Shin-machi, Hirakata, Osaka, 573-1010, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Kansai Medical University, 2-5-1 Shin-machi, Hirakata, Osaka, 573-1010, Japan","institution_ids":["https://openalex.org/I126884977"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089465390","display_name":"Hirofumi Kusaka","orcid":"https://orcid.org/0000-0002-3337-8101","observed_orcids":["https://orcid.org/0000-0002-3337-8101"]},"institutions":[{"id":"https://openalex.org/I126884977","display_name":"Kansai Medical University","ror":"https://ror.org/001xjdh50","country_code":"JP","type":"education","lineage":["https://openalex.org/I126884977"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hirofumi Kusaka","raw_affiliation_strings":["Department of Neurology, Kansai Medical University, 2-5-1 Shin-machi, Hirakata, Osaka, 573-1010, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Kansai Medical University, 2-5-1 Shin-machi, Hirakata, Osaka, 573-1010, Japan","institution_ids":["https://openalex.org/I126884977"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101479057","display_name":"Kenichi Fujimoto","orcid":"https://orcid.org/0000-0001-8907-4628","observed_orcids":["https://orcid.org/0000-0001-8907-4628"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ken-ichi Fujimoto","raw_affiliation_strings":["Jichi-idai Station Brain Clinic, 3-2-2 Idai mae, Shimono-shi, Tochigi, 329-0403, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Jichi-idai Station Brain Clinic, 3-2-2 Idai mae, Shimono-shi, Tochigi, 329-0403, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040602448","display_name":"Yoshikazu Ugawa","orcid":"https://orcid.org/0000-0002-8016-152X","observed_orcids":["https://orcid.org/0000-0002-8016-152X"]},"institutions":[{"id":"https://openalex.org/I130830085","display_name":"Fukushima Medical University","ror":"https://ror.org/012eh0r35","country_code":"JP","type":"education","lineage":["https://openalex.org/I130830085"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshikazu Ugawa","raw_affiliation_strings":["Department of Neuro regeneration, School of Medicine, Fukushima Medical University, 1 Hikarigaoka, Fukushima, 960-1295, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuro regeneration, School of Medicine, Fukushima Medical University, 1 Hikarigaoka, Fukushima, 960-1295, Japan","institution_ids":["https://openalex.org/I130830085"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019216025","display_name":"Manabu Funayama","orcid":"https://orcid.org/0000-0002-7412-3631","observed_orcids":["https://orcid.org/0000-0002-7412-3631"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Manabu Funayama","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","Laboratory of Genomic Medicine, Center for genomic and Regenerative Medicine, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","institution_ids":["https://openalex.org/I34077901"]},{"raw_affiliation_string":"Laboratory of Genomic Medicine, Center for genomic and Regenerative Medicine, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","institution_ids":["https://openalex.org/I34077901"]},{"raw_affiliation_string":"Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5014705038","display_name":"Nobutaka Hattori","orcid":"https://orcid.org/0000-0002-2034-2556","observed_orcids":["https://orcid.org/0000-0002-2034-2556"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Nobutaka Hattori","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. nhattori@juntendo.ac.jp","Laboratory of Genomic Medicine, Center for genomic and Regenerative Medicine, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. nhattori@juntendo.ac.jp","Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. nhattori@juntendo.ac.jp","Laboratory of Genomic Medicine, Center for genomic and Regenerative Medicine, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. nhattori@juntendo.ac.jp","institution_ids":["https://openalex.org/I34077901"]},{"raw_affiliation_string":"Laboratory of Genomic Medicine, Center for genomic and Regenerative Medicine, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. nhattori@juntendo.ac.jp","institution_ids":["https://openalex.org/I34077901"]},{"raw_affiliation_string":"Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. nhattori@juntendo.ac.jp","institution_ids":["https://openalex.org/I34077901"]},{"raw_affiliation_string":"Laboratory of Genomic Medicine, Center for genomic and Regenerative Medicine, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan","institution_ids":["https://openalex.org/I34077901"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":10,"corresponding_author_ids":["https://openalex.org/A5014705038","https://openalex.org/A5025637651"],"corresponding_institution_ids":["https://openalex.org/I34077901"],"apc_list":{"value":4790,"currency":"USD","value_usd":4790},"apc_paid":null,"fwci":3.6146,"has_fulltext":false,"cited_by_count":51,"citation_normalized_percentile":{"value":0.9376885,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"265","issue":"8","first_page":"1860","last_page":"1870"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.9315999746322632,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.9315999746322632,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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":0.021700000390410423,"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"}},{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.01850000023841858,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"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/gch1-mutations","display_name":"GCH1 mutations","score":0.9869999885559082},{"id":"https://openalex.org/keywords/dopa-responsive-dystonia","display_name":"dopa-responsive dystonia","score":0.996999979019165},{"id":"https://openalex.org/keywords/parkinson-s-disease","display_name":"Parkinson's disease","score":0.9900000095367432},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.41499999165534973},{"id":"https://openalex.org/keywords/mutation-prevalence","display_name":"mutation prevalence","score":0.5519999861717224},{"id":"https://openalex.org/keywords/age-of-onset","display_name":"age of onset","score":0.5820000171661377},{"id":"https://openalex.org/keywords/levodopa-response","display_name":"levodopa response","score":0.9369999766349792},{"id":"https://openalex.org/keywords/dopamine-transporter","display_name":"dopamine transporter","score":0.6669999957084656},{"id":"https://openalex.org/keywords/mibg-myocardial-scintigraphy","display_name":"MIBG myocardial scintigraphy","score":0.9490000009536743},{"id":"https://openalex.org/keywords/striatal-dopamine-transporter","display_name":"striatal dopamine transporter","score":0.4729999899864197},{"id":"https://openalex.org/keywords/clinical-heterogeneity","display_name":"clinical heterogeneity","score":0.5680000185966492},{"id":"https://openalex.org/keywords/autonomic-dysfunction","display_name":"autonomic dysfunction","score":0.7739999890327454},{"id":"https://openalex.org/keywords/cognitive-decline","display_name":"cognitive decline","score":0.9890000224113464}],"concepts":[{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.7431840300559998},{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.7385755181312561},{"id":"https://openalex.org/C2776755682","wikidata":"https://www.wikidata.org/wiki/Q2271947","display_name":"Dopamine transporter","level":4,"score":0.6473953723907471},{"id":"https://openalex.org/C2780304432","wikidata":"https://www.wikidata.org/wiki/Q300989","display_name":"Levodopa","level":4,"score":0.625737190246582},{"id":"https://openalex.org/C2779734285","wikidata":"https://www.wikidata.org/wiki/Q11085","display_name":"Parkinson's disease","level":3,"score":0.5467707514762878},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.520287811756134},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5146813988685608},{"id":"https://openalex.org/C16568411","wikidata":"https://www.wikidata.org/wiki/Q83042","display_name":"Neurology","level":2,"score":0.4617784917354584},{"id":"https://openalex.org/C2780405171","wikidata":"https://www.wikidata.org/wiki/Q629444","display_name":"Dyskinesia","level":4,"score":0.45850899815559387},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.4422048032283783},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.41426071524620056},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.37285035848617554},{"id":"https://openalex.org/C513476851","wikidata":"https://www.wikidata.org/wiki/Q170304","display_name":"Dopamine","level":2,"score":0.35142064094543457},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.24634206295013428},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.23220881819725037},{"id":"https://openalex.org/C137183658","wikidata":"https://www.wikidata.org/wiki/Q461076","display_name":"Dopaminergic","level":3,"score":0.17723259329795837},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.12505924701690674},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.10142242908477783},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0987175703048706},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000369","descriptor_name":"Aged, 80 and over","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","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":"D006136","descriptor_name":"GTP Cyclohydrolase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000453","qualifier_name":"epidemiology","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":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020821","descriptor_name":"Dystonic Disorders","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D020821","descriptor_name":"Dystonic Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020821","descriptor_name":"Dystonic Disorders","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s00415-018-8930-8","doi":"https://doi.org/10.1007/s00415-018-8930-8","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00415-018-8930-8","pdf_url":null,"source":{"id":"https://openalex.org/S175814247","display_name":"Journal of Neurology","issn_l":"0012-1037","issn":["0012-1037","0340-5354","1432-1459"],"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-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neurology","raw_type":"journal-article"},{"id":"pmid:29948246","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29948246","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":"Journal of neurology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9940000176429749}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1683181470","display_name":"Development of biomarker for detection of lymphnode metastasis and prediction of recurrence in colorectal cancer using CAGE analysis","funder_award_id":"16K10552","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G3511230628","display_name":"Pathomechanisms of Parkinson disease due to dysfunction of iPLA2G6","funder_award_id":"16K09675","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G6195017147","display_name":"Examination of Caffeine Metabolism Changes and Parkinson's Disease Symptom Correlation Based on Metabolite-Related Gene Analysis","funder_award_id":"17K07797","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G7310680068","display_name":"Development of novel cellular models for Parkinson's disease focusing on energy-homeostasis","funder_award_id":"16K09676","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G8076443037","display_name":"Identification of lung metastasis predictive marker for colorectal cancer with gene explession analysis using CAGE","funder_award_id":"18K08798","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"}],"funders":[{"id":"https://openalex.org/F4320322832","display_name":"University of Tokyo","ror":"https://ror.org/057zh3y96"},{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W1252660048","https://openalex.org/W1545847477","https://openalex.org/W1971519543","https://openalex.org/W1979708588","https://openalex.org/W1984906692","https://openalex.org/W2003334448","https://openalex.org/W2017412434","https://openalex.org/W2022202090","https://openalex.org/W2059710254","https://openalex.org/W2068778836","https://openalex.org/W2076357933","https://openalex.org/W2102601603","https://openalex.org/W2103322282","https://openalex.org/W2104544243","https://openalex.org/W2118582599","https://openalex.org/W2127346380","https://openalex.org/W2129101580","https://openalex.org/W2132881915","https://openalex.org/W2134084374","https://openalex.org/W2137685232","https://openalex.org/W2143712476","https://openalex.org/W2160995259","https://openalex.org/W2168946626","https://openalex.org/W2256016639","https://openalex.org/W2278487942","https://openalex.org/W2317804643","https://openalex.org/W2425272744","https://openalex.org/W2521967673"],"related_works":["https://openalex.org/W2415798049","https://openalex.org/W2059710254","https://openalex.org/W2441391037","https://openalex.org/W2054676692","https://openalex.org/W2050276825","https://openalex.org/W7125418167","https://openalex.org/W2024151011","https://openalex.org/W2103451341","https://openalex.org/W7101155024","https://openalex.org/W1984906692"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":8},{"year":2025,"cited_by_count":8},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":12},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2018-06-21T00:00:00"}