000 | 01912 a2200589 4500 | ||
---|---|---|---|
005 | 20250514182915.0 | ||
264 | 0 | _c20040719 | |
008 | 200407s 0 0 eng d | ||
022 | _a1526-632X | ||
024 | 7 |
_a10.1212/01.wnl.0000115386.28769.65 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aKim, D S | |
245 | 0 | 0 |
_aPOMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. _h[electronic resource] |
260 |
_bNeurology _cMar 2004 |
||
300 |
_a1009-11 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
650 | 0 | 4 | _aAction Potentials |
650 | 0 | 4 |
_aBrain _xabnormalities |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aConserved Sequence |
650 | 0 | 4 |
_aCreatine Kinase _xblood |
650 | 0 | 4 |
_aCytoskeletal Proteins _xdeficiency |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 | _aDystroglycans |
650 | 0 | 4 | _aElectroencephalography |
650 | 0 | 4 |
_aEye Abnormalities _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aImmunoblotting |
650 | 0 | 4 | _aImmunohistochemistry |
650 | 0 | 4 | _aJapan |
650 | 0 | 4 | _aMagnetic Resonance Imaging |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMannosyltransferases _xgenetics |
650 | 0 | 4 |
_aMembrane Glycoproteins _xdeficiency |
650 | 0 | 4 |
_aMuscular Dystrophies _xcongenital |
650 | 0 | 4 |
_aNervous System Malformations _xdiagnosis |
650 | 0 | 4 | _aSyndrome |
700 | 1 | _aHayashi, Y K | |
700 | 1 | _aMatsumoto, H | |
700 | 1 | _aOgawa, M | |
700 | 1 | _aNoguchi, S | |
700 | 1 | _aMurakami, N | |
700 | 1 | _aSakuta, R | |
700 | 1 | _aMochizuki, M | |
700 | 1 | _aMichele, D E | |
700 | 1 | _aCampbell, K P | |
700 | 1 | _aNonaka, I | |
700 | 1 | _aNishino, I | |
773 | 0 |
_tNeurology _gvol. 62 _gno. 6 _gp. 1009-11 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1212/01.wnl.0000115386.28769.65 _zAvailable from publisher's website |
999 |
_c14755058 _d14755058 |