文献
J-GLOBAL ID:202202287917422911
整理番号:22A0803174
脊髄小脳失調症14型における突発性運動失調と重度乳児表現型:表現型と新規突然変異の拡大【JST・京大機械翻訳】
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
著者 (21件):
De Michele Giovanna
(Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy)
,
Galatolo Daniele
(Istituto Di Ricovero E Cura a Carattere Scientifico (IRCCS), Pisa, Italy)
,
Galosi Serena
(Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy)
,
Mignarri Andrea
(Department of Medicine, Surgery and Neuroscience, Neurology and Neurometabolic Unit, University of Siena, Siena, Italy)
,
Silvestri Gabriella
(Department of Neurosciences, Faculty of Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy)
,
Silvestri Gabriella
(Neurology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy)
,
Casali Carlo
(Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, Rome, Italy)
,
Leuzzi Vincenzo
(Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy)
,
Ricca Ivana
(Istituto Di Ricovero E Cura a Carattere Scientifico (IRCCS), Pisa, Italy)
,
Barghigiani Melissa
(Istituto Di Ricovero E Cura a Carattere Scientifico (IRCCS), Pisa, Italy)
,
Tessa Alessandra
(Istituto Di Ricovero E Cura a Carattere Scientifico (IRCCS), Pisa, Italy)
,
Cioffi Ettore
(Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, Rome, Italy)
,
Caputi Caterina
(Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy)
,
Riso Vittorio
(Department of Neurosciences, Faculty of Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy)
,
Riso Vittorio
(Neurology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy)
,
Dotti Maria Teresa
(Department of Medicine, Surgery and Neuroscience, Neurology and Neurometabolic Unit, University of Siena, Siena, Italy)
,
Sacca Francesco
(Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy)
,
De Michele Giuseppe
(Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy)
,
Cocozza Sirio
(Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy)
,
Filla Alessandro
(Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy)
,
Santorelli Filippo M.
(Istituto Di Ricovero E Cura a Carattere Scientifico (IRCCS), Pisa, Italy)
資料名:
Journal of Neurology
(Journal of Neurology)
巻:
269
号:
3
ページ:
1476-1484
発行年:
2022年
JST資料番号:
T0575A
ISSN:
0340-5354
CODEN:
JNRYA9
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
ドイツ (DEU)
言語:
英語 (EN)