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ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease.

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Title: ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease.
Authors: Kitahara S; Department of Neurology, Brain Research Institute, Niigata University, 1-757, Asahimachi-Dori, Chuoku, Niigata, 951-8585, Japan., Ando S; Department of Neurology, Brain Research Institute, Niigata University, 1-757, Asahimachi-Dori, Chuoku, Niigata, 951-8585, Japan., Uemura M; Department of Neurology, Brain Research Institute, Niigata University, 1-757, Asahimachi-Dori, Chuoku, Niigata, 951-8585, Japan., Hatano Y; Department of Neurology, Brain Research Institute, Niigata University, 1-757, Asahimachi-Dori, Chuoku, Niigata, 951-8585, Japan., Nozaki H; Department of Medical Technology, Graduate School of Health Sciences, Niigata University, Niigata, Japan., Hirozawa D; Department of Neurology, Osaka University, Osaka, Japan., Nomura E; Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan., Okubo K; Division of Neurology, Kawasaki Medical School, Okayama, Japan., Munekane A; Division of Neurology, Kawasaki Medical School, Okayama, Japan., Tashiro T; Department of Neurology, JCHO Kyushu Hospital, Fukuoka, Japan., Asai K; Department of Neurology, Osaka General Medical Centre, Osaka, Japan., Yamaoka M; Department of Neurology, Nara Medical University, Nara, Japan., Taneda T; Department of Neurology, Nagaoka Red Cross Hospital, Niigata, Japan., Honma Y; Department of Neurology, Showa General Hospital, Tokyo, Japan., Kondo H; Department of Neurology, Anjo Kosei Hospital, Aichi, Japan., Itabashi R; Department of Stroke Neurology, Kohnan Hospital, Miyagi, Japan., Iwanaga A; Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Murota H; Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Aizawa H; Department of Neurology, National Hospital Organization Tokyo National Hospital, Tokyo, Japan.; Department of Neurology, Tokyo Medical University, Tokyo, Japan., Ishihara T; Department of Neurology, Brain Research Institute, Niigata University, 1-757, Asahimachi-Dori, Chuoku, Niigata, 951-8585, Japan.; Advanced Treatment of Neurological Diseases Branch, Endowed Research Branch, Brain Research Institute, Niigata University, Niigata, Japan., Onodera O; Department of Neurology, Brain Research Institute, Niigata University, 1-757, Asahimachi-Dori, Chuoku, Niigata, 951-8585, Japan. onodera@bri.niigata-u.ac.jp.
Source: Scientific reports [Sci Rep] 2026 Jan 23; Vol. 16 (1), pp. 3858. Date of Electronic Publication: 2026 Jan 23.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease.
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  Data: <searchLink fieldCode="AU" term="%22Kitahara+S%22">Kitahara S</searchLink>; Department of Neurology, Brain Research Institute, Niigata University, 1-757, Asahimachi-Dori, Chuoku, Niigata, 951-8585, Japan.<br /><searchLink fieldCode="AU" term="%22Ando+S%22">Ando S</searchLink>; Department of Neurology, Brain Research Institute, Niigata University, 1-757, Asahimachi-Dori, Chuoku, Niigata, 951-8585, Japan.<br /><searchLink fieldCode="AU" term="%22Uemura+M%22">Uemura M</searchLink>; Department of Neurology, Brain Research Institute, Niigata University, 1-757, Asahimachi-Dori, Chuoku, Niigata, 951-8585, Japan.<br /><searchLink fieldCode="AU" term="%22Hatano+Y%22">Hatano Y</searchLink>; Department of Neurology, Brain Research Institute, Niigata University, 1-757, Asahimachi-Dori, Chuoku, Niigata, 951-8585, Japan.<br /><searchLink fieldCode="AU" term="%22Nozaki+H%22">Nozaki H</searchLink>; Department of Medical Technology, Graduate School of Health Sciences, Niigata University, Niigata, Japan.<br /><searchLink fieldCode="AU" term="%22Hirozawa+D%22">Hirozawa D</searchLink>; Department of Neurology, Osaka University, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Nomura+E%22">Nomura E</searchLink>; Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan.<br /><searchLink fieldCode="AU" term="%22Okubo+K%22">Okubo K</searchLink>; Division of Neurology, Kawasaki Medical School, Okayama, Japan.<br /><searchLink fieldCode="AU" term="%22Munekane+A%22">Munekane A</searchLink>; Division of Neurology, Kawasaki Medical School, Okayama, Japan.<br /><searchLink fieldCode="AU" term="%22Tashiro+T%22">Tashiro T</searchLink>; Department of Neurology, JCHO Kyushu Hospital, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Asai+K%22">Asai K</searchLink>; Department of Neurology, Osaka General Medical Centre, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Yamaoka+M%22">Yamaoka M</searchLink>; Department of Neurology, Nara Medical University, Nara, Japan.<br /><searchLink fieldCode="AU" term="%22Taneda+T%22">Taneda T</searchLink>; Department of Neurology, Nagaoka Red Cross Hospital, Niigata, Japan.<br /><searchLink fieldCode="AU" term="%22Honma+Y%22">Honma Y</searchLink>; Department of Neurology, Showa General Hospital, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Kondo+H%22">Kondo H</searchLink>; Department of Neurology, Anjo Kosei Hospital, Aichi, Japan.<br /><searchLink fieldCode="AU" term="%22Itabashi+R%22">Itabashi R</searchLink>; Department of Stroke Neurology, Kohnan Hospital, Miyagi, Japan.<br /><searchLink fieldCode="AU" term="%22Iwanaga+A%22">Iwanaga A</searchLink>; Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.<br /><searchLink fieldCode="AU" term="%22Murota+H%22">Murota H</searchLink>; Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.<br /><searchLink fieldCode="AU" term="%22Aizawa+H%22">Aizawa H</searchLink>; Department of Neurology, National Hospital Organization Tokyo National Hospital, Tokyo, Japan.; Department of Neurology, Tokyo Medical University, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Ishihara+T%22">Ishihara T</searchLink>; Department of Neurology, Brain Research Institute, Niigata University, 1-757, Asahimachi-Dori, Chuoku, Niigata, 951-8585, Japan.; Advanced Treatment of Neurological Diseases Branch, Endowed Research Branch, Brain Research Institute, Niigata University, Niigata, Japan.<br /><searchLink fieldCode="AU" term="%22Onodera+O%22">Onodera O</searchLink>; Department of Neurology, Brain Research Institute, Niigata University, 1-757, Asahimachi-Dori, Chuoku, Niigata, 951-8585, Japan. onodera@bri.niigata-u.ac.jp.
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  Data: <searchLink fieldCode="JN" term="%22101563288%22">Scientific reports</searchLink> [Sci Rep] 2026 Jan 23; Vol. 16 (1), pp. 3858. <i>Date of Electronic Publication: </i>2026 Jan 23.
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  Data: Journal Article; Multicenter Study
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101563288 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2045-2322 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220452322%22">20452322 </searchLink><i>NLM ISO Abbreviation: </i>Sci Rep <i>Subsets: </i>MEDLINE
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