000 01893 a2200601 4500
005 20250516090301.0
264 0 _c20130328
008 201303s 0 0 eng d
022 _a1878-5883
024 7 _a10.1016/j.jns.2012.03.024
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aUlzi, Gianna
245 0 0 _aMyotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.
_h[electronic resource]
260 _bJournal of the neurological sciences
_cJul 2012
300 _a65-71 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aAged
650 0 4 _aCell Line
650 0 4 _aCell Membrane
_xgenetics
650 0 4 _aChild
650 0 4 _aChloride Channels
_xgenetics
650 0 4 _aElectric Conductivity
650 0 4 _aFemale
650 0 4 _aGenetic Predisposition to Disease
_xgenetics
650 0 4 _aHumans
650 0 4 _aItaly
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMutation, Missense
_xgenetics
650 0 4 _aMyotonia Congenita
_xgenetics
650 0 4 _aPatch-Clamp Techniques
650 0 4 _aYoung Adult
700 1 _aLecchi, Marzia
700 1 _aSansone, Valeria
700 1 _aRedaelli, Elisa
700 1 _aCorti, Eleonora
700 1 _aSaccomanno, Domenica
700 1 _aPagliarani, Serena
700 1 _aCorti, Stefania
700 1 _aMagri, Francesca
700 1 _aRaimondi, Monika
700 1 _aD'Angelo, Grazia
700 1 _aModoni, Anna
700 1 _aBresolin, Nereo
700 1 _aMeola, Giovanni
700 1 _aWanke, Enzo
700 1 _aComi, Giacomo P
700 1 _aLucchiari, Sabrina
773 0 _tJournal of the neurological sciences
_gvol. 318
_gno. 1-2
_gp. 65-71
856 4 0 _uhttps://doi.org/10.1016/j.jns.2012.03.024
_zAvailable from publisher's website
999 _c21719881
_d21719881