| 000 | 01414 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250517094112.0 | ||
| 264 | 0 | _c20170926 | |
| 008 | 201709s 0 0 eng d | ||
| 022 | _a1473-4230 | ||
| 024 | 7 |
_a10.1007/s12311-016-0786-9 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLindquist, Suzanne Granhøj | |
| 245 | 0 | 0 |
_aA Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia. _h[electronic resource] |
| 260 |
_bCerebellum (London, England) _c02 2017 |
||
| 300 |
_a268-271 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aBrain _xdiagnostic imaging |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aDenmark |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aProtein Serine-Threonine Kinases _xgenetics |
| 650 | 0 | 4 |
_aSpinocerebellar Ataxias _xdiagnostic imaging |
| 700 | 1 | _aMøller, Lisbeth Birk | |
| 700 | 1 | _aDali, Christine I | |
| 700 | 1 | _aMarner, Lisbeth | |
| 700 | 1 | _aKamsteeg, Erik-Jan | |
| 700 | 1 | _aNielsen, Jørgen Erik | |
| 700 | 1 | _aHjermind, Lena Elisabeth | |
| 773 | 0 |
_tCerebellum (London, England) _gvol. 16 _gno. 1 _gp. 268-271 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s12311-016-0786-9 _zAvailable from publisher's website |
| 999 |
_c26006717 _d26006717 |
||