000 01706 a2200517 4500
005 20250518012416.0
264 0 _c20190528
008 201905s 0 0 eng d
022 _a1432-1459
024 7 _a10.1007/s00415-018-9141-z
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aNanetti, Lorenzo
245 0 0 _aANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
_h[electronic resource]
260 _bJournal of neurology
_cFeb 2019
300 _a378-385 p.
_bdigital
500 _aPublication Type: Journal Article; Observational Study
650 0 4 _aAnoctamins
_xgenetics
650 0 4 _aCognitive Dysfunction
_xphysiopathology
650 0 4 _aDisease Progression
650 0 4 _aEvoked Potentials, Somatosensory
_xphysiology
650 0 4 _aExecutive Function
_xphysiology
650 0 4 _aFemale
650 0 4 _aGenes, Recessive
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMutation
650 0 4 _aPedigree
650 0 4 _aSpinocerebellar Ataxias
_xgenetics
700 1 _aSarto, Elisa
700 1 _aCastaldo, Anna
700 1 _aMagri, Stefania
700 1 _aMongelli, Alessia
700 1 _aRossi Sebastiano, Davide
700 1 _aCanafoglia, Laura
700 1 _aGrisoli, Marina
700 1 _aMalaguti, Chiara
700 1 _aRivieri, Francesca
700 1 _aD'Amico, Maria Chiara
700 1 _aDi Bella, Daniela
700 1 _aFranceschetti, Silvana
700 1 _aMariotti, Caterina
700 1 _aTaroni, Franco
773 0 _tJournal of neurology
_gvol. 266
_gno. 2
_gp. 378-385
856 4 0 _uhttps://doi.org/10.1007/s00415-018-9141-z
_zAvailable from publisher's website
999 _c29129319
_d29129319