文献

J-GLOBAL ID：201202239555247362   整理番号：12A1297181

ER形成タンパク質reticulon2における突然変異は,軸索変性障害遺伝性痙性対麻痺12型を引き起こす

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

著者 (30件)： MONTENEGRO Gladys (Univ. of Miami Miller School of Medicine, Florida, USA) ,  REBELO Adriana P. (Univ. of Miami Miller School of Medicine, Florida, USA) ,  CONNELL James (Univ. of Cambridge, Cambridge, GBR) ,  ALLISON Rachel (Univ. of Cambridge, Cambridge, GBR) ,  BABALINI Carla (Istituto di Ricovero e Cura a Carattere Scientifico, Rome, ITA) ,  D’ALOIA Michela (Istituto di Ricovero e Cura a Carattere Scientifico, Rome, ITA) ,  MONTIERI Pasqua (Istituto di Ricovero e Cura a Carattere Scientifico, Rome, ITA) ,  SCHUELE Rebecca (Univ. of Tubingen, Tubingen, DEU) ,  SCHUELE Rebecca (German Center of Neurodegenerative Diseases, Tuebingen, DEU) ,  ISHIURA Hiroyuki (Univ. of Tokyo Hospital, Tokyo, JPN) ,  PRICE Justin (Univ. of Miami Miller School of Medicine, Florida, USA) ,  STRICKLAND Alleene (Univ. of Miami Miller School of Medicine, Florida, USA) ,  GONZALEZ Michael A. (Univ. of Miami Miller School of Medicine, Florida, USA) ,  BAUMBACH-REARDON Lisa (Univ. of Miami Miller School of Medicine, Florida, USA) ,  DECONINCK Tine (Univ. of Antwerp, Antwerp, BEL) ,  HUANG Jia (Univ. of Miami Miller School of Medicine, Florida, USA) ,  BERNARDI Giorgio (Istituto di Ricovero e Cura a Carattere Scientifico, Rome, ITA) ,  BERNARDI Giorgio (Universita di Roma ”Tor Vergata, ” Rome, ITA) ,  VANCE Jeffery M. (Univ. of Miami Miller School of Medicine, Florida, USA) ,  ROGERS Mark T. (Univ. Hospital of Wales, Wales, GBR) ,  TSUJI Shoji (Univ. of Tokyo Hospital, Tokyo, JPN) ,  DE JONGHE Peter (Univ. of Antwerp, Antwerp, BEL) ,  DE JONGHE Peter (Univ. Hospital Antwerp, Antwerp, BEL) ,  PERICAK-VANCE Margaret A. (Univ. of Miami Miller School of Medicine, Florida, USA) ,  SCHOELS Ludger (Univ. of Tubingen, Tubingen, DEU) ,  SCHOELS Ludger (German Center of Neurodegenerative Diseases, Tuebingen, DEU) ,  ORLACCHIO Antonio (Istituto di Ricovero e Cura a Carattere Scientifico, Rome, ITA) ,  ORLACCHIO Antonio (Universita di Roma ”Tor Vergata, ” Rome, ITA) ,  REID Evan (Univ. of Cambridge, Cambridge, GBR) ,  ZUECHNER Stephan (Univ. of Miami Miller School of Medicine, Florida, USA)
資料名： Journal of Clinical Investigation  (Journal of Clinical Investigation)
巻： 122  号： 2  ページ： 538-544  発行年： 2012年02月 
JST資料番号： B0520B  ISSN： 0021-9738  資料種別： 逐次刊行物 (A)
発行国： アメリカ合衆国 (USA)  言語： 英語 (EN)

タイトルに関連する用語 (6件)： Er ,  タンパク質 ,  突然変異 ,  軸索変性 ,  障害 ,  遺伝性痙性対麻痺