000			02111 a2200637 4500
005			20250515061534.0
264		0	_c20070530
008			200705s 0 0 eng d
022			_a1460-2156
024	7		_a10.1093/brain/awm026 _2doi
040			_aNLM _beng _cNLM
100	1		_aMihaylova, Violeta
245	0	0	_aHighly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation. _h[electronic resource]
260			_bBrain : a journal of neurology _cApr 2007
300			_a1050-61 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	_aBase Sequence
650	0	4	_aCentral Nervous System Diseases _xcomplications
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aCognition Disorders _xcomplications
650	0	4	_aElectroencephalography _xmethods
650	0	4	_aFamily Health
650	0	4	_aFemale
650	0	4	_aFluorescein Angiography _xmethods
650	0	4	_aGenotype
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aMacula Lutea _xpathology
650	0	4	_aMale
650	0	4	_aMental Disorders _xcomplications
650	0	4	_aMutation
650	0	4	_aNiemann-Pick Diseases _xcomplications
650	0	4	_aPeripheral Nervous System Diseases _xcomplications
650	0	4	_aPhenotype
650	0	4	_aSphingomyelin Phosphodiesterase _xdeficiency
700	1		_aHantke, Janina
700	1		_aSinigerska, Ivanka
700	1		_aCherninkova, Silvia
700	1		_aRaicheva, Margarita
700	1		_aBouwer, Sonja
700	1		_aTincheva, Radka
700	1		_aKhuyomdziev, Djako
700	1		_aBertranpetit, Jaume
700	1		_aChandler, David
700	1		_aAngelicheva, Dora
700	1		_aKremensky, Ivo
700	1		_aSeeman, Pavel
700	1		_aTournev, Ivailo
700	1		_aKalaydjieva, Luba
773	0		_tBrain : a journal of neurology _gvol. 130 _gno. Pt 4 _gp. 1050-61
856	4	0	_uhttps://doi.org/10.1093/brain/awm026 _zAvailable from publisher's website
999			_c16916337 _d16916337