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EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

Authors :
Kuipers, Demy J.S.
Mandemakers, Wim
Lu, Chin Song
Olgiati, Simone
Breedveld, Guido J.
Fevga, Christina
Tadic, Vera
Carecchio, Miryam
Osterman, Bradley
Sagi-Dain, Lena
Wu-Chou, Yah Huei
Chen, Chiung C.
Chang, Hsiu Chen
Wu, Shey Lin
Yeh, Tu Hsueh
Weng, Yi Hsin
Elia, Antonio E.
Panteghini, Celeste
Marotta, Nicolas
Pauly, Martje G.
Kühn, Andrea A.
Volkmann, Jens
Lace, Baiba
Meijer, Inge A.
Kandaswamy, Krishna
Quadri, Marialuisa
Garavaglia, Barbara
Lohmann, Katja
Bauer, Peter
Mencacci, Niccolò E.
Lubbe, Steven J.
Klein, Christine
Bertoli-Avella, Aida M.
Bonifati, Vincenzo
Kuipers, Demy J.S.
Mandemakers, Wim
Lu, Chin Song
Olgiati, Simone
Breedveld, Guido J.
Fevga, Christina
Tadic, Vera
Carecchio, Miryam
Osterman, Bradley
Sagi-Dain, Lena
Wu-Chou, Yah Huei
Chen, Chiung C.
Chang, Hsiu Chen
Wu, Shey Lin
Yeh, Tu Hsueh
Weng, Yi Hsin
Elia, Antonio E.
Panteghini, Celeste
Marotta, Nicolas
Pauly, Martje G.
Kühn, Andrea A.
Volkmann, Jens
Lace, Baiba
Meijer, Inge A.
Kandaswamy, Krishna
Quadri, Marialuisa
Garavaglia, Barbara
Lohmann, Katja
Bauer, Peter
Mencacci, Niccolò E.
Lubbe, Steven J.
Klein, Christine
Bertoli-Avella, Aida M.
Bonifati, Vincenzo
Source :
Kuipers , D J S , Mandemakers , W , Lu , C S , Olgiati , S , Breedveld , G J , Fevga , C , Tadic , V , Carecchio , M , Osterman , B , Sagi-Dain , L , Wu-Chou , Y H , Chen , C C , Chang , H C , Wu , S L , Yeh , T H , Weng , Y H , Elia , A E , Panteghini , C , Marotta , N , Pauly , M G , Kühn , A A , Volkmann , J , Lace , B , Meijer , I A , Kandaswamy , K , Quadri , M , Garavaglia , B , Lohmann , K , Bauer , P , Mencacci , N E , Lubbe , S J , Klein , C , Bertoli-Avella , A M & Bonifati , V 2021 , ' EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia ' , Annals of Neurology , vol. 89 , no. 3 , pp. 485-497 .
Publication Year :
2021

Details

Database :
OAIster
Journal :
Kuipers , D J S , Mandemakers , W , Lu , C S , Olgiati , S , Breedveld , G J , Fevga , C , Tadic , V , Carecchio , M , Osterman , B , Sagi-Dain , L , Wu-Chou , Y H , Chen , C C , Chang , H C , Wu , S L , Yeh , T H , Weng , Y H , Elia , A E , Panteghini , C , Marotta , N , Pauly , M G , Kühn , A A , Volkmann , J , Lace , B , Meijer , I A , Kandaswamy , K , Quadri , M , Garavaglia , B , Lohmann , K , Bauer , P , Mencacci , N E , Lubbe , S J , Klein , C , Bertoli-Avella , A M & Bonifati , V 2021 , ' EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia ' , Annals of Neurology , vol. 89 , no. 3 , pp. 485-497 .
Notes :
application/pdf, English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1481682804
Document Type :
Electronic Resource