000			02197 a2200721 4500
005			20250516131751.0
264		0	_c20130404
008			201304s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2012.11.021 _2doi
040			_aNLM _beng _cNLM
100	1		_aMartin, Elodie
245	0	0	_aLoss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. _h[electronic resource]
260			_bAmerican journal of human genetics _cFeb 2013
300			_a238-44 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	_aAged
650	0	4	_aAnimals
650	0	4	_aBrain _xpathology
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aFamily
650	0	4	_aFemale
650	0	4	_aGlucosylceramidase
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aMale
650	0	4	_aMiddle Aged
650	0	4	_aMotor Neurons _xpathology
650	0	4	_aMutation _xgenetics
650	0	4	_aNeuroimaging
650	0	4	_aPedigree
650	0	4	_aSpastic Paraplegia, Hereditary _xenzymology
650	0	4	_aYoung Adult
650	0	4	_aZebrafish
650	0	4	_aZebrafish Proteins _xgenetics
650	0	4	_abeta-Glucosidase _xgenetics
700	1		_aSchüle, Rebecca
700	1		_aSmets, Katrien
700	1		_aRastetter, Agnès
700	1		_aBoukhris, Amir
700	1		_aLoureiro, José L
700	1		_aGonzalez, Michael A
700	1		_aMundwiller, Emeline
700	1		_aDeconinck, Tine
700	1		_aWessner, Marc
700	1		_aJornea, Ludmila
700	1		_aOteyza, Andrés Caballero
700	1		_aDurr, Alexandra
700	1		_aMartin, Jean-Jacques
700	1		_aSchöls, Ludger
700	1		_aMhiri, Chokri
700	1		_aLamari, Foudil
700	1		_aZüchner, Stephan
700	1		_aDe Jonghe, Peter
700	1		_aKabashi, Edor
700	1		_aBrice, Alexis
700	1		_aStevanin, Giovanni
773	0		_tAmerican journal of human genetics _gvol. 92 _gno. 2 _gp. 238-44
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2012.11.021 _zAvailable from publisher's website
999			_c22431958 _d22431958