000			01973 a2200565 4500
005			20250515233937.0
264		0	_c20150422
008			201504s 0 0 eng d
022			_a1468-330X
024	7		_a10.1136/jnnp.2008.163402 _2doi
040			_aNLM _beng _cNLM
100	1		_aRomaniello, Romina
245	0	0	_aA wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. _h[electronic resource]
260			_bJournal of neurology, neurosurgery, and psychiatry _cAug 2010
300			_a840-3 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAge of Onset
650	0	4	_aAmino Acid Sequence
650	0	4	_aBrain _xpathology
650	0	4	_aCalcium Channels _xgenetics
650	0	4	_aCerebral Cortex _xpathology
650	0	4	_aChild
650	0	4	_aDNA Mutational Analysis
650	0	4	_aElectrodiagnosis
650	0	4	_aElectroencephalography
650	0	4	_aEvoked Potentials _xphysiology
650	0	4	_aExons _xgenetics
650	0	4	_aFemale
650	0	4	_aFourth Ventricle _xpathology
650	0	4	_aHumans
650	0	4	_aMigraine with Aura _xetiology
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation _xphysiology
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aNervous System Diseases _xgenetics
650	0	4	_aPedigree
650	0	4	_aSpinocerebellar Ataxias _xetiology
700	1		_aZucca, Claudio
700	1		_aTonelli, Alessandra
700	1		_aBonato, Sara
700	1		_aBaschirotto, Cinzia
700	1		_aZanotta, Nicoletta
700	1		_aEpifanio, Roberta
700	1		_aRighini, Andrea
700	1		_aBresolin, Nereo
700	1		_aBassi, Maria T
700	1		_aBorgatti, Renato
773	0		_tJournal of neurology, neurosurgery, and psychiatry _gvol. 81 _gno. 8 _gp. 840-3
856	4	0	_uhttps://doi.org/10.1136/jnnp.2008.163402 _zAvailable from publisher's website
999			_c20021628 _d20021628