文献
J-GLOBAL ID:202202263934725873
整理番号:22A0489695
NMJ機能および疾患におけるLAP1の役割に対する早期発症肢帯筋無力症を支持したTOR1AIP1変異体【JST・京大機械翻訳】
A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease
著者 (18件):
Malfatti Edoardo
(APHP, North-East-Ile-de-France Neuromuscular Pathology Reference Center, Henri-Mondor University Hospital, Paris, France)
,
Malfatti Edoardo
(UVSQ-INSERM Neuromuscular Handicap: Applied Physiology, Biotherapy and Pharmacology, UFR Simone Veil-Sante, Versailles Saint-Quentin-en-Yvelines University, Paris, France)
,
Catchpool Tara
(Harry Perkins Institute of Medical Research, Centre of Medical Research, University of Western Australia, Nedlands, Western Australia, Australia)
,
Nouioua Sonia
(Department of Neurology of the EHS of Cherchell, University Centre of Tipaza, Tipaza, Algeria)
,
Nouioua Sonia
(NeuroSciences Research Laboratory, University of Algiers Benyoucef Benkhedda, Alger, Algeria)
,
Sihem Hellal
(NeuroSciences Research Laboratory, University of Algiers Benyoucef Benkhedda, Alger, Algeria)
,
Sihem Hellal
(Central Laboratory of Biochemistry, CHU Mustapha, Algiers, Algeria)
,
Fournier Emmanuel
(APHP, Department of Neurophysiology, GH Pitie-Salpetriere, Sorbonne University, Paris, France)
,
Carlier Robert Y.
(APHP, DMU Smart Imaging, Medical imaging Department, Raymond Poincare Teaching Hospital, North-East-Ile-de-France Neuromuscular Pathology Reference Center, GH University Paris-Saclay, Paris, France)
,
Cardone Nastasia
(APHP, North-East-Ile-de-France Neuromuscular Pathology Reference Center, Henri-Mondor University Hospital, Paris, France)
,
Cardone Nastasia
(Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy)
,
Cardone Nastasia
(Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy)
,
Davis Mark R.
(PathWest Diagnostic Genomics, Nedlands, Western Australia, Australia)
,
Davis Mark R.
(School of Biomedical Sciences, University of Western Australia, Nedlands, Western Australia, Australia)
,
Laing Nigel G.
(Harry Perkins Institute of Medical Research, Centre of Medical Research, University of Western Australia, Nedlands, Western Australia, Australia)
,
Sternberg Damien
(APHP, Metabolic Biochemistry Department, Genetics Center, Pitie-Salpetriere Hospital Group, Center of Research in Myology, APHP Sorbonne University, Paris, France)
,
Ravenscroft Gianina
(Harry Perkins Institute of Medical Research, Centre of Medical Research, University of Western Australia, Nedlands, Western Australia, Australia)
,
Ravenscroft Gianina
(School of Biomedical Sciences, University of Western Australia, Nedlands, Western Australia, Australia)
資料名:
Neuropathology and Applied Neurobiology
(Neuropathology and Applied Neurobiology)
巻:
48
号:
1
ページ:
e12743
発行年:
2022年
JST資料番号:
A1520A
ISSN:
0305-1846
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)