000			02296 a2200721 4500
005			20250515104224.0
264		0	_c20080416
008			200804s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.20682 _2doi
040			_aNLM _beng _cNLM
100	1		_aArnoldi, Alessia
245	0	0	_aA clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. _h[electronic resource]
260			_bHuman mutation _cApr 2008
300			_a522-31 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aATPases Associated with Diverse Cellular Activities
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aBase Sequence
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aCodon, Nonsense
650	0	4	_aCohort Studies
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDNA, Complementary _xgenetics
650	0	4	_aElectron Transport Complex I _xgenetics
650	0	4	_aFemale
650	0	4	_aFibroblasts _xmetabolism
650	0	4	_aGenes, Recessive
650	0	4	_aHaplotypes
650	0	4	_aHumans
650	0	4	_aItaly
650	0	4	_aMale
650	0	4	_aMetalloendopeptidases _xgenetics
650	0	4	_aMiddle Aged
650	0	4	_aMitochondria, Muscle _xmetabolism
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation
650	0	4	_aPedigree
650	0	4	_aPoint Mutation
650	0	4	_aSequence Deletion
650	0	4	_aSpastic Paraplegia, Hereditary _xgenetics
700	1		_aTonelli, Alessandra
700	1		_aCrippa, Francesca
700	1		_aVillani, Gaetano
700	1		_aPacelli, Consiglia
700	1		_aSironi, Manuela
700	1		_aPozzoli, Uberto
700	1		_aD'Angelo, Maria Grazia
700	1		_aMeola, Giovanni
700	1		_aMartinuzzi, Andrea
700	1		_aCrimella, Claudia
700	1		_aRedaelli, Francesca
700	1		_aPanzeri, Chris
700	1		_aRenieri, Alessandra
700	1		_aComi, Giacomo Pietro
700	1		_aTurconi, Anna Carla
700	1		_aBresolin, Nereo
700	1		_aBassi, Maria Teresa
773	0		_tHuman mutation _gvol. 29 _gno. 4 _gp. 522-31
856	4	0	_uhttps://doi.org/10.1002/humu.20682 _zAvailable from publisher's website
999			_c17708650 _d17708650