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 |