| 000 | 01389 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250517150514.0 | ||
| 264 | 0 | _c20190515 | |
| 008 | 201905s 0 0 eng d | ||
| 022 | _a1460-2156 | ||
| 024 | 7 |
_a10.1093/brain/awx083 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aZanni, Ginevra | |
| 245 | 0 | 0 |
_aDe novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation. _h[electronic resource] |
| 260 |
_bBrain : a journal of neurology _c06 2017 |
||
| 300 |
_ae34 p. _bdigital |
||
| 500 | _aPublication Type: Letter; Comment | ||
| 650 | 0 | 4 | _aAtrophy |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aHypoventilation |
| 650 | 0 | 4 | _aMuscular Atrophy, Spinal |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolyneuropathies |
| 650 | 0 | 4 | _aRespiratory Paralysis |
| 650 | 0 | 4 | _aSpinocerebellar Degenerations |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aNardella, Marta | |
| 700 | 1 | _aBarresi, Sabina | |
| 700 | 1 | _aBellacchio, Emanuele | |
| 700 | 1 | _aNiceta, Marcello | |
| 700 | 1 | _aCiolfi, Andrea | |
| 700 | 1 | _aPro, Stefano | |
| 700 | 1 | _aD'Arrigo, Stefano | |
| 700 | 1 | _aTartaglia, Marco | |
| 700 | 1 | _aBertini, Enrico | |
| 773 | 0 |
_tBrain : a journal of neurology _gvol. 140 _gno. 6 _gp. e34 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/brain/awx083 _zAvailable from publisher's website |
| 999 |
_c27074156 _d27074156 |
||