| 000 | 01839 a2200613 4500 | ||
|---|---|---|---|
| 005 | 20250515025755.0 | ||
| 264 | 0 | _c20060628 | |
| 008 | 200606s 0 0 eng d | ||
| 022 | _a1526-632X | ||
| 024 | 7 |
_a10.1212/01.wnl.0000216145.66476.36 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aD'Amico, A | |
| 245 | 0 | 0 |
_aExpanding the clinical spectrum of POMT1 phenotype. _h[electronic resource] |
| 260 |
_bNeurology _cMay 2006 |
||
| 300 |
_a1564-7; discussion 1461 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 |
_aContracture _xgenetics |
| 650 | 0 | 4 | _aDisease Progression |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGlycosylation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aHypertrophy |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aLeg _xpathology |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMannosyltransferases _xdeficiency |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 |
_aMuscular Dystrophies _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aProtein Processing, Post-Translational |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aTessa, A | |
| 700 | 1 | _aBruno, C | |
| 700 | 1 | _aPetrini, S | |
| 700 | 1 | _aBiancheri, R | |
| 700 | 1 | _aPane, M | |
| 700 | 1 | _aPedemonte, M | |
| 700 | 1 | _aRicci, E | |
| 700 | 1 | _aFalace, A | |
| 700 | 1 | _aRossi, A | |
| 700 | 1 | _aMercuri, E | |
| 700 | 1 | _aSantorelli, F M | |
| 700 | 1 | _aBertini, E | |
| 773 | 0 |
_tNeurology _gvol. 66 _gno. 10 _gp. 1564-7; discussion 1461 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1212/01.wnl.0000216145.66476.36 _zAvailable from publisher's website |
| 999 |
_c16316010 _d16316010 |
||