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ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
Imbrici, P; Maggi, L; Mangiatordi, G F; Dinardo, M M; Altamura, C; Brugnoni, R; Alberga, D; Pinter, G Lauria; Ricci, G; Siciliano, G; Micheli, R; Annicchiarico, G; Lattanzi, G; Nicolotti, O; Morandi, L; Bernasconi, P; Desaphy, J-F; Mantegazza, R; Camerino, D Conte.
Affiliation
  • Imbrici P; Department of Pharmacy - Drug Sciences, University of Bari, Bari, Italy.
  • Maggi L; Neuroimmunology and Neuromuscular Diseases Unit, IRCCS Fondazione Istituto Neurologico 'Carlo Besta', Milano, Italy.
  • Mangiatordi GF; Department of Pharmacy - Drug Sciences, University of Bari, Bari, Italy.
  • Dinardo MM; Department of Pharmacy - Drug Sciences, University of Bari, Bari, Italy.
  • Altamura C; Department of Pharmacy - Drug Sciences, University of Bari, Bari, Italy.
  • Brugnoni R; Neuroimmunology and Neuromuscular Diseases Unit, IRCCS Fondazione Istituto Neurologico 'Carlo Besta', Milano, Italy.
  • Alberga D; Department of Physics 'M. Merlin', INFN and TIRES, University of Bari, Bari, Italy.
  • Pinter GL; Neuroalgology and Headache Unit, IRCCS Fondazione Istituto Neurologico 'Carlo Besta', Milano, Italy.
  • Ricci G; Department of Clinical and Experimental Medicine, Section of Neurology, University of Pisa, Pisa, Italy.
  • Siciliano G; Department of Clinical and Experimental Medicine, Section of Neurology, University of Pisa, Pisa, Italy.
  • Micheli R; Unit of Child Neurology and Psychiatry, Spedali Civili, Brescia, Italy.
  • Annicchiarico G; Regional Coordination for Rare Diseases, A. Re. S. Puglia, Bari, Italy.
  • Lattanzi G; Department of Physics 'M. Merlin', INFN and TIRES, University of Bari, Bari, Italy.
  • Nicolotti O; Department of Pharmacy - Drug Sciences, University of Bari, Bari, Italy.
  • Morandi L; Neuroimmunology and Neuromuscular Diseases Unit, IRCCS Fondazione Istituto Neurologico 'Carlo Besta', Milano, Italy.
  • Bernasconi P; Neuroimmunology and Neuromuscular Diseases Unit, IRCCS Fondazione Istituto Neurologico 'Carlo Besta', Milano, Italy.
  • Desaphy JF; Department of Pharmacy - Drug Sciences, University of Bari, Bari, Italy.
  • Mantegazza R; Neuroimmunology and Neuromuscular Diseases Unit, IRCCS Fondazione Istituto Neurologico 'Carlo Besta', Milano, Italy.
  • Camerino DC; Department of Pharmacy - Drug Sciences, University of Bari, Bari, Italy.
J Physiol ; 593(18): 4181-99, 2015 Sep 15.
Article in En | MEDLINE | ID: mdl-26096614
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chloride Channels / Mutation / Myotonia Congenita Type of study: Prognostic_studies Limits: Adult / Aged / Child / Female / Humans / Male / Middle aged Language: En Journal: J Physiol Year: 2015 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chloride Channels / Mutation / Myotonia Congenita Type of study: Prognostic_studies Limits: Adult / Aged / Child / Female / Humans / Male / Middle aged Language: En Journal: J Physiol Year: 2015 Document type: Article