000 02051 a2200625 4500
005 20250517023306.0
264 0 _c20150807
008 201508s 0 0 eng d
022 _a1460-2156
024 7 _a10.1093/brain/awv057
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aJobling, Rebekah K
245 0 0 _aPMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
_h[electronic resource]
260 _bBrain : a journal of neurology
_cJun 2015
300 _a1505-17 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aChild
650 0 4 _aHumans
650 0 4 _aLebanon
650 0 4 _aLymphocytes
_xmetabolism
650 0 4 _aMale
650 0 4 _aMetalloendopeptidases
_xgenetics
650 0 4 _aMitochondrial Proteins
_xmetabolism
650 0 4 _aMutation
_xgenetics
650 0 4 _aPedigree
650 0 4 _aProtein Subunits
_xgenetics
650 0 4 _aSpinocerebellar Degenerations
_xgenetics
650 0 4 _aYoung Adult
650 0 4 _aMitochondrial Processing Peptidase
700 1 _aAssoum, Mirna
700 1 _aGakh, Oleksandr
700 1 _aBlaser, Susan
700 1 _aRaiman, Julian A
700 1 _aMignot, Cyril
700 1 _aRoze, Emmanuel
700 1 _aDürr, Alexandra
700 1 _aBrice, Alexis
700 1 _aLévy, Nicolas
700 1 _aPrasad, Chitra
700 1 _aPaton, Tara
700 1 _aPaterson, Andrew D
700 1 _aRoslin, Nicole M
700 1 _aMarshall, Christian R
700 1 _aDesvignes, Jean-Pierre
700 1 _aRoëckel-Trevisiol, Nathalie
700 1 _aScherer, Stephen W
700 1 _aRouleau, Guy A
700 1 _aMégarbané, André
700 1 _aIsaya, Grazia
700 1 _aDelague, Valérie
700 1 _aYoon, Grace
773 0 _tBrain : a journal of neurology
_gvol. 138
_gno. Pt 6
_gp. 1505-17
856 4 0 _uhttps://doi.org/10.1093/brain/awv057
_zAvailable from publisher's website
999 _c24741545
_d24741545