000 02273 a2200757 4500
005 20250515060344.0
264 0 _c20070620
008 200706s 0 0 eng d
022 _a1061-4036
024 7 _a10.1038/ng1980
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aStevanin, Giovanni
245 0 0 _aMutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
_h[electronic resource]
260 _bNature genetics
_cMar 2007
300 _a366-72 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aAge of Onset
650 0 4 _aAnimals
650 0 4 _aBase Sequence
650 0 4 _aCOS Cells
650 0 4 _aCerebral Cortex
_xmetabolism
650 0 4 _aChild
650 0 4 _aChlorocebus aethiops
650 0 4 _aChromosomes, Human, Pair 15
650 0 4 _aCorpus Callosum
_xpathology
650 0 4 _aDNA Mutational Analysis
650 0 4 _aGenetic Linkage
650 0 4 _aGenotype
650 0 4 _aHumans
650 0 4 _aLod Score
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
650 0 4 _aPedigree
650 0 4 _aProteins
_xgenetics
650 0 4 _aRats
650 0 4 _aRats, Sprague-Dawley
650 0 4 _aSpastic Paraplegia, Hereditary
_xgenetics
700 1 _aSantorelli, Filippo M
700 1 _aAzzedine, Hamid
700 1 _aCoutinho, Paula
700 1 _aChomilier, Jacques
700 1 _aDenora, Paola S
700 1 _aMartin, Elodie
700 1 _aOuvrard-Hernandez, Anne-Marie
700 1 _aTessa, Alessandra
700 1 _aBouslam, Naïma
700 1 _aLossos, Alexander
700 1 _aCharles, Perrine
700 1 _aLoureiro, José L
700 1 _aElleuch, Nizar
700 1 _aConfavreux, Christian
700 1 _aCruz, Vítor T
700 1 _aRuberg, Merle
700 1 _aLeguern, Eric
700 1 _aGrid, Djamel
700 1 _aTazir, Meriem
700 1 _aFontaine, Bertrand
700 1 _aFilla, Alessandro
700 1 _aBertini, Enrico
700 1 _aDurr, Alexandra
700 1 _aBrice, Alexis
773 0 _tNature genetics
_gvol. 39
_gno. 3
_gp. 366-72
856 4 0 _uhttps://doi.org/10.1038/ng1980
_zAvailable from publisher's website
999 _c16880795
_d16880795