000			02288 a2200721 4500
005			20250516193019.0
264		0	_c20140526
008			201405s 0 0 eng d
022			_a1460-2156
024	7		_a10.1093/brain/awt357 _2doi
040			_aNLM _beng _cNLM
100	1		_aKornak, Uwe
245	0	0	_aSensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. _h[electronic resource]
260			_bBrain : a journal of neurology _cMar 2014
300			_a683-92 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdult
650	0	4	_aAge of Onset
650	0	4	_aBone Diseases _xetiology
650	0	4	_aCohort Studies
650	0	4	_aCough _xgenetics
650	0	4	_aEndoplasmic Reticulum _xgenetics
650	0	4	_aExome _xgenetics
650	0	4	_aFemale
650	0	4	_aFractures, Bone _xgenetics
650	0	4	_aGTP Phosphohydrolases _xgenetics
650	0	4	_aGastroesophageal Reflux _xgenetics
650	0	4	_aGenes, Dominant _xgenetics
650	0	4	_aHaplotypes _xgenetics
650	0	4	_aHereditary Sensory and Autonomic Neuropathies _xcomplications
650	0	4	_aHumans
650	0	4	_aIntracellular Space _xgenetics
650	0	4	_aMale
650	0	4	_aMutation
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aYoung Adult
700	1		_aMademan, Inès
700	1		_aSchinke, Marte
700	1		_aVoigt, Martin
700	1		_aKrawitz, Peter
700	1		_aHecht, Jochen
700	1		_aBarvencik, Florian
700	1		_aSchinke, Thorsten
700	1		_aGießelmann, Sebastian
700	1		_aBeil, F Timo
700	1		_aPou-Serradell, Adolf
700	1		_aVílchez, Juan J
700	1		_aBeetz, Christian
700	1		_aDeconinck, Tine
700	1		_aTimmerman, Vincent
700	1		_aKaether, Christoph
700	1		_aDe Jonghe, Peter
700	1		_aHübner, Christian A
700	1		_aGal, Andreas
700	1		_aAmling, Michael
700	1		_aMundlos, Stefan
700	1		_aBaets, Jonathan
700	1		_aKurth, Ingo
773	0		_tBrain : a journal of neurology _gvol. 137 _gno. Pt 3 _gp. 683-92
856	4	0	_uhttps://doi.org/10.1093/brain/awt357 _zAvailable from publisher's website
999			_c23481164 _d23481164