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Delineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy.

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Title: Delineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy.
Authors: Ishigami D; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan., Namba S; Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan., Miyawaki S; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan. smiya-nsu@m.u-tokyo.ac.jp., Mitsui J; Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Imai H; Department of Neurosurgery, Tokyo Shinjuku Medical Center, Tokyo, Japan., Shimizu M; Department of Neurosurgery, Kanto Neurosurgical Hospital, Kumagaya, Japan., Hongo H; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan., Dofuku S; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.; Department of Neurosurgery, Tokyo Shinjuku Medical Center, Tokyo, Japan., Torazawa S; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan., Teranishi Y; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan., Ohara K; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan., Sakai Y; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan., Shimada D; Department of Neurosurgery, Faculty of Medicine, Kyorin University Hospital, Tokyo, Japan., Ono H; Department of Neurosurgery, Fuji Brain Institute and Hospital, Shizuoka, Japan., Nakatomi H; Department of Neurosurgery, Faculty of Medicine, Kyorin University Hospital, Tokyo, Japan., Morishita S; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan., Tsuji S; Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Okada Y; Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan., Saito N; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jun; Vol. 34 (6), pp. 788-795. Date of Electronic Publication: 2026 Feb 12.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
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  Data: Delineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy.
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  Data: <searchLink fieldCode="AU" term="%22Ishigami+D%22">Ishigami D</searchLink>; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Namba+S%22">Namba S</searchLink>; Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Miyawaki+S%22">Miyawaki S</searchLink>; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan. smiya-nsu@m.u-tokyo.ac.jp.<br /><searchLink fieldCode="AU" term="%22Mitsui+J%22">Mitsui J</searchLink>; Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Imai+H%22">Imai H</searchLink>; Department of Neurosurgery, Tokyo Shinjuku Medical Center, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Shimizu+M%22">Shimizu M</searchLink>; Department of Neurosurgery, Kanto Neurosurgical Hospital, Kumagaya, Japan.<br /><searchLink fieldCode="AU" term="%22Hongo+H%22">Hongo H</searchLink>; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Dofuku+S%22">Dofuku S</searchLink>; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.; Department of Neurosurgery, Tokyo Shinjuku Medical Center, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Torazawa+S%22">Torazawa S</searchLink>; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Teranishi+Y%22">Teranishi Y</searchLink>; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Ohara+K%22">Ohara K</searchLink>; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Sakai+Y%22">Sakai Y</searchLink>; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Shimada+D%22">Shimada D</searchLink>; Department of Neurosurgery, Faculty of Medicine, Kyorin University Hospital, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Ono+H%22">Ono H</searchLink>; Department of Neurosurgery, Fuji Brain Institute and Hospital, Shizuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Nakatomi+H%22">Nakatomi H</searchLink>; Department of Neurosurgery, Faculty of Medicine, Kyorin University Hospital, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Morishita+S%22">Morishita S</searchLink>; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Tsuji+S%22">Tsuji S</searchLink>; Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Okada+Y%22">Okada Y</searchLink>; Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Saito+N%22">Saito N</searchLink>; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 Jun; Vol. 34 (6), pp. 788-795. <i>Date of Electronic Publication: </i>2026 Feb 12.
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