Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient

• Autorzy: Lucchiari S. , Ulzi G. , Magri F. , Bucchia M. , Corbetta F. , Servida M. , Moggio M. , Comi G. P. , Lecchi M.
• Języki publikacji: EN

Abstrakty

EN

Słowa kluczowe

EN

clinical evaluation; CLCN1 gene; skeletal muscle; neuromuscular transmission; myotonia congenita; patient; electrophysiology; immunohistochemistry; mutagenesis

• Wydawca: -
• Czasopismo: Journal of Physiology and Pharmacology
• Rocznik: 2013
• Tom: 64
• Numer: 5
• Opis fizyczny: p.669-678,fig.,ref.

Twórcy

autor

Lucchiari S.

• Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

autor

Ulzi G.

• Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

autor

Magri F.

• Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

autor

Bucchia M.

• Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, I-20126 Milan, Italy

autor

Corbetta F.

• Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, I-20126 Milan, Italy

autor

Servida M.

• Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

autor

Moggio M.

• Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

autor

Comi G. P.

• Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

autor

Lecchi M.

• Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, I-20126 Milan, Italy