000 01829 a2200565 4500
005 20250518083126.0
264 0 _c20210517
008 202105s 0 0 eng d
022 _a1432-0533
024 7 _a10.1007/s00401-020-02128-8
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aAlMuhaizea, Mohammed
245 0 0 _aTruncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
_h[electronic resource]
260 _bActa neuropathologica
_c04 2020
300 _a791-794 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aBrain Diseases
_xgenetics
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aEpilepsy
_xgenetics
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMicrocephaly
_xgenetics
650 0 4 _aMovement Disorders
_xgenetics
650 0 4 _aMutation
650 0 4 _aPedigree
650 0 4 _aVesicular Transport Proteins
_xgenetics
700 1 _aAlMass, Rawan
700 1 _aAlHargan, Aljouhra
700 1 _aAlBader, Anoud
700 1 _aMedico Salsench, Eva
700 1 _aHowaidi, Jude
700 1 _aIhinger, Jacie
700 1 _aKarachunski, Peter
700 1 _aBegtrup, Amber
700 1 _aSegura Castell, Monica
700 1 _aBauer, Peter
700 1 _aBertoli-Avella, Aida
700 1 _aKaya, Ibrahim H
700 1 _aAlSufayan, Jumanah
700 1 _aAlQuait, Laila
700 1 _aChedrawi, Aziza
700 1 _aArold, Stefan T
700 1 _aColak, Dilek
700 1 _aBarakat, Tahsin Stefan
700 1 _aKaya, Namik
773 0 _tActa neuropathologica
_gvol. 139
_gno. 4
_gp. 791-794
856 4 0 _uhttps://doi.org/10.1007/s00401-020-02128-8
_zAvailable from publisher's website
999 _c30584069
_d30584069