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

M AlMuhaizea; R AlMass; A AlHargan; A AlBader; Eva Medico Salsench; J Howaidi; J Ihinger; P Karachunski; A Begtrup; M Segura Castell; P Bauer; A Bertoli-Avella; IH Kaya; J AlSufayan; L AlQuait; A Chedrawi; ST Arold; D Colak; Stefan Barakat; N Kaya

doi:10.1007/s00401-020-02128-8

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

M AlMuhaizea, R AlMass, A AlHargan, A AlBader, Eva Medico Salsench, J Howaidi, J Ihinger, P Karachunski, A Begtrup, M Segura Castell, P Bauer, A Bertoli-Avella, IH Kaya, J AlSufayan, L AlQuait, A Chedrawi, ST Arold, D Colak, Stefan Barakat, N Kaya

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

18 Citations (Scopus)

61 Downloads (Pure)

Original language	English
Pages (from-to)	791-794
Number of pages	4
Journal	Acta Neuropathologica
Volume	139
Issue number	4
DOIs	https://doi.org/10.1007/s00401-020-02128-8
Publication status	Published - 2020

Research programs

EMC MGC-02-96-01
EMC OR-01

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10.1007/s00401-020-02128-8

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Cite this

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, 139(4), 791-794. https://doi.org/10.1007/s00401-020-02128-8

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author = "M AlMuhaizea and R AlMass and A AlHargan and A AlBader and {Medico Salsench}, Eva and J Howaidi and J Ihinger and P Karachunski and A Begtrup and {Segura Castell}, M and P Bauer and A Bertoli-Avella and IH Kaya and J AlSufayan and L AlQuait and A Chedrawi and ST Arold and D Colak and Stefan Barakat and N Kaya",

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doi = "10.1007/s00401-020-02128-8",

language = "English",

volume = "139",

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journal = "Acta Neuropathologica",

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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. https://doi.org/10.1007/s00401-020-02128-8

TY - JOUR

T1 - Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

AU - AlMuhaizea, M

AU - AlMass, R

AU - AlHargan, A

AU - AlBader, A

AU - Medico Salsench, Eva

AU - Howaidi, J

AU - Ihinger, J

AU - Karachunski, P

AU - Begtrup, A

AU - Segura Castell, M

AU - Bauer, P

AU - Bertoli-Avella, A

AU - Kaya, IH

AU - AlSufayan, J

AU - AlQuait, L

AU - Chedrawi, A

AU - Arold, ST

AU - Colak, D

AU - Barakat, Stefan

AU - Kaya, N

PY - 2020

Y1 - 2020

U2 - 10.1007/s00401-020-02128-8

DO - 10.1007/s00401-020-02128-8

M3 - Article

C2 - 32006098

SN - 0001-6322

VL - 139

SP - 791

EP - 794

JO - Acta Neuropathologica

JF - Acta Neuropathologica

IS - 4

ER -