000 01341 a2200385 4500
005 20250518091821.0
264 0 _c20220222
008 202202s 0 0 eng d
022 _a2240-2993
024 7 _a10.1007/s13760-020-01328-z
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aCeylan, Ahmet Cevdet
245 0 0 _aAutosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.
_h[electronic resource]
260 _bActa neurologica Belgica
_cDec 2021
300 _a1457-1462 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Review
650 0 4 _aAdolescent
650 0 4 _aChild, Preschool
650 0 4 _aExons
_xgenetics
650 0 4 _aFemale
650 0 4 _aGene Duplication
_xgenetics
650 0 4 _aHomozygote
650 0 4 _aHumans
650 0 4 _aPedigree
650 0 4 _aReceptors, Glutamate
_xgenetics
650 0 4 _aSiblings
650 0 4 _aSpinocerebellar Degenerations
_xdiagnostic imaging
700 1 _aAcar Arslan, Elif
700 1 _aErdem, Haktan Bağış
700 1 _aKavus, Haluk
700 1 _aArslan, Mutluay
700 1 _aTopaloğlu, Haluk
773 0 _tActa neurologica Belgica
_gvol. 121
_gno. 6
_gp. 1457-1462
856 4 0 _uhttps://doi.org/10.1007/s13760-020-01328-z
_zAvailable from publisher's website
999 _c30740822
_d30740822