文献
J-GLOBAL ID:202102230105281869
整理番号:21A1000157
VAMP1におけるホモ接合変異はシナプス前先天性筋無力症候群を引き起こす【JST・京大機械翻訳】
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome
著者 (32件):
Salpietro Vincenzo
(Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom)
,
Lin Weichun
(Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX)
,
Delle Vedove Andrea
(Institute of Human Genetics, Center for Molecular Medicine Cologne, Cologne, Germany)
,
Delle Vedove Andrea
(Institute for Genetics, University of Cologne, Cologne, Germany)
,
Storbeck Markus
(Institute of Human Genetics, Center for Molecular Medicine Cologne, Cologne, Germany)
,
Storbeck Markus
(Institute for Genetics, University of Cologne, Cologne, Germany)
,
Liu Yun
(Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX)
,
Efthymiou Stephanie
(Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom)
,
Manole Andreea
(Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom)
,
Wiethoff Sarah
(Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom)
,
Ye Qiaohong
(Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX)
,
Saggar Anand
(St George’s Hospital, National Health Service Foundation Trust, London, United Kingdom)
,
McElreavey Kenneth
(Human Developmental Genetics, Pasteur Institute, Paris, France)
,
Krishnakumar Shyam S.
(Department of Cell Biology, Yale School of Medicine, New Haven, CT)
,
Krishnakumar Shyam S.
(Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, United Kingdom)
,
SYNAPS Study Group
,
Pitt Matthew
(Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children, National Health Service Foundation Trust, London, United Kingdom)
,
Bello Oscar D.
(Department of Cell Biology, Yale School of Medicine, New Haven, CT)
,
Bello Oscar D.
(Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, United Kingdom)
,
Rothman James E.
(Department of Cell Biology, Yale School of Medicine, New Haven, CT)
,
Rothman James E.
(Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, United Kingdom)
,
Basel-Vanagaite Lina
(Pediatric Genetics Unit, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel)
,
Basel-Vanagaite Lina
(Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel)
,
Basel-Vanagaite Lina
(Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel)
,
Hubshman Monika Weisz
(Pediatric Genetics Unit, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel)
,
Hubshman Monika Weisz
(Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel)
,
Hubshman Monika Weisz
(Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel)
,
Aharoni Sharon
(Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel)
,
Aharoni Sharon
(Institute of Child Neurology, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel)
,
Manzur Adnan Y.
(Department of Pediatric Neurology, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom)
,
Wirth Brunhilde
(Institute of Human Genetics, Center for Molecular Medicine Cologne, Cologne, Germany)
,
Houlden Henry
(Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom)
資料名:
Annals of Neurology
(Annals of Neurology)
巻:
81
号:
4
ページ:
597-603
発行年:
2017年
JST資料番号:
T0008A
ISSN:
0364-5134
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)