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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

Authors :
AlMuhaizea, M
AlMass, R
AlHargan, A
AlBader, A
Medico Salsench, Eva
Howaidi, J
Ihinger, J
Karachunski, P
Begtrup, A
Segura Castell, M
Bauer, P
Bertoli-Avella, A
Kaya, IH
AlSufayan, J
AlQuait, L
Chedrawi, A
Arold, ST
Colak, D
Barakat, Stefan
Kaya, N
AlMuhaizea, M
AlMass, R
AlHargan, A
AlBader, A
Medico Salsench, Eva
Howaidi, J
Ihinger, J
Karachunski, P
Begtrup, A
Segura Castell, M
Bauer, P
Bertoli-Avella, A
Kaya, IH
AlSufayan, J
AlQuait, L
Chedrawi, A
Arold, ST
Colak, D
Barakat, Stefan
Kaya, N
Source :
AlMuhaizea , M , AlMass , R , AlHargan , A , AlBader , A , Medico Salsench , E , Howaidi , J , Ihinger , J , Karachunski , P , Begtrup , A , Segura Castell , M , Bauer , P , Bertoli-Avella , A , Kaya , IH , AlSufayan , J , AlQuait , L , Chedrawi , A , Arold , ST , Colak , D , Barakat , S & Kaya , N 2020 , ' Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy ' , Acta Neuropathologica , vol. 139 , no. 4 , pp. 791-794 .
Publication Year :
2020

Details

Database :
OAIster
Journal :
AlMuhaizea , M , AlMass , R , AlHargan , A , AlBader , A , Medico Salsench , E , Howaidi , J , Ihinger , J , Karachunski , P , Begtrup , A , Segura Castell , M , Bauer , P , Bertoli-Avella , A , Kaya , IH , AlSufayan , J , AlQuait , L , Chedrawi , A , Arold , ST , Colak , D , Barakat , S & Kaya , N 2020 , ' Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy ' , Acta Neuropathologica , vol. 139 , no. 4 , pp. 791-794 .
Notes :
application/pdf, English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1313628737
Document Type :
Electronic Resource