| 000 | 01464 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250516142038.0 | ||
| 264 | 0 | _c20151026 | |
| 008 | 201510s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.12137 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSchottmann, G | |
| 245 | 0 | 0 |
_aA novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. _h[electronic resource] |
| 260 |
_bClinical genetics _cMar 2014 |
||
| 300 |
_a290-2 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAtrophy |
| 650 | 0 | 4 | _aAxons |
| 650 | 0 | 4 | _aBiopsy |
| 650 | 0 | 4 |
_aCerebellar Diseases _xdiagnosis |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
| 650 | 0 | 4 | _aMotor Neurons |
| 650 | 0 | 4 |
_aMuscles _xpathology |
| 650 | 0 | 4 | _aNeural Conduction |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPeripheral Nervous System Diseases _xdiagnosis |
| 700 | 1 | _aStenzel, W | |
| 700 | 1 | _aLützkendorf, S | |
| 700 | 1 | _aSchuelke, M | |
| 700 | 1 | _aKnierim, E | |
| 773 | 0 |
_tClinical genetics _gvol. 85 _gno. 3 _gp. 290-2 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.12137 _zAvailable from publisher's website |
| 999 |
_c22607056 _d22607056 |
||