文献
J-GLOBAL ID:201802241865165917
整理番号:18A1349976
IFIH1利得機能による脳石灰化を伴う常染色体優性早期発症痙性対麻痺【JST・京大機械翻訳】
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function
著者 (23件):
Ruaud Lyse
(Centre de genetique humaine, Universite de Franche-Comte, Besancon, France)
,
Rice Gillian I.
(Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK)
,
Cabrol Christelle
(Centre de genetique humaine, Universite de Franche-Comte, Besancon, France)
,
Piard Juliette
(Centre de genetique humaine, Universite de Franche-Comte, Besancon, France)
,
Rodero Mathieu
(INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France)
,
van Eyk Lien
(INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France)
,
Boucher-Brischoux Elise
(Centre de genetique humaine, Universite de Franche-Comte, Besancon, France)
,
de Noordhout Alain Maertens
(Department of Neurology, La Citadelle Hospital, Liege, Belgium)
,
Mare Ricardo
(Department of Neurology, Regional Hospital, Braga, Portugal)
,
Scalais Emmanuel
(Department of Pediatric Neurology, National Hospital, Luxembourg City, Luxembourg)
,
Pauly Fernand
(Department of functional rehabilitation, National Hospital, Luxembourg City, Luxembourg)
,
Debray Francois-Guillaume
(Metabolic Unit, University of Liege, Liege, Belgium)
,
Dobyns William
(Center for Integrative Brain Research, Seattle Children’s Research Institute, University of Washington, Seattle, Washington)
,
Uggenti Carolina
(Center for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK)
,
Park Ji Woo
(Biology Department in Morrissey College of Arts and Sciences, Boston College, Chestnut Hill, Massachusetts)
,
Hur Sun
(Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts)
,
Livingston John H.
(Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK)
,
Crow Yanick J.
(INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France)
,
Crow Yanick J.
(Center for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK)
,
Crow Yanick J.
(Paris Descartes University, Sorbonne-Paris-Cite, Institut Imagine, Hopital Necker Enfants Malades, Assistance Publique-Hopitaux de Paris, Paris, France)
,
Van Maldergem Lionel
(Centre de genetique humaine, Universite de Franche-Comte, Besancon, France)
,
Van Maldergem Lionel
(Integrative and Cognitive Neurosciences Research Unit EA481, University of Franche-Comte, Besancon, France)
,
Van Maldergem Lionel
(Clinical Investigation Center 1431, INSERM, Besancon, France)
資料名:
Human Mutation
(Human Mutation)
巻:
39
号:
8
ページ:
1076-1080
発行年:
2018年
JST資料番号:
W2601A
ISSN:
1059-7794
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)