000			01954 a2200577 4500
005			20250515091825.0
264		0	_c20071101
008			200711s 0 0 eng d
022			_a1468-330X
024	7		_a10.1136/jnnp.2006.112276 _2doi
040			_aNLM _beng _cNLM
100	1		_aLaurà, Matilde
245	0	0	_aRapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. _h[electronic resource]
260			_bJournal of neurology, neurosurgery, and psychiatry _cNov 2007
300			_a1263-6 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAged
650	0	4	_aAxons _xpathology
650	0	4	_aBiopsy
650	0	4	_aCharcot-Marie-Tooth Disease _xdiagnosis
650	0	4	_aChromosome Aberrations
650	0	4	_aChromosomes, Human, Pair 1
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDiseases in Twins _xdiagnosis
650	0	4	_aExons _xgenetics
650	0	4	_aFemale
650	0	4	_aGenes, Dominant
650	0	4	_aGenetic Carrier Screening
650	0	4	_aGenetic Testing
650	0	4	_aGenotype
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMicroscopy, Electron
650	0	4	_aMiddle Aged
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aMyelin P0 Protein _xgenetics
650	0	4	_aNerve Fibers, Myelinated _xpathology
650	0	4	_aNeurologic Examination
650	0	4	_aPhenotype
650	0	4	_aSural Nerve _xpathology
700	1		_aMilani, Micaela
700	1		_aMorbin, Michela
700	1		_aMoggio, Maurizio
700	1		_aRipolone, Michela
700	1		_aJann, Stefano
700	1		_aScaioli, Vidmer
700	1		_aTaroni, Franco
700	1		_aPareyson, Davide
773	0		_tJournal of neurology, neurosurgery, and psychiatry _gvol. 78 _gno. 11 _gp. 1263-6
856	4	0	_uhttps://doi.org/10.1136/jnnp.2006.112276 _zAvailable from publisher's website
999			_c17460497 _d17460497