Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

Challenging AQP4 druggability for NMO-IgG antibody binding using molecular dynamics and molecular interaction fields

(2015) Giuseppe Felice Mangiatordi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita

(2015) Mauro Lo Monaco et al.   CLINICAL NEUROPHYSIOLOGY

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation

(2015) P. Imbrici et al.   JOURNAL OF PHYSIOLOGY-LONDON

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

(2015) Simona Portaro et al.   NEUROMOLECULAR MEDICINE

ClC-1 chloride channels: state-of-the-art research and future challenges

(2015) Paola Imbrici et al.   Frontiers in Cellular Neuroscience

Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies

(2015) Karen Joan Suetterlin et al.   JAMA Neurology

A new gating site in human aquaporin-4: Insights from molecular dynamics simulations

(2014) Domenico Alberga et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

I–J loop involvement in the pharmacological profile of CLC-K channels expressed in Xenopus oocytes

(2014) Antonella Gradogna et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Muscle channelopathies

(2014) Karen Suetterlin et al.   CURRENT OPINION IN NEUROLOGY

Electrophysiological Characteristics of Six Mutations in hClC-1 of Korean Patients with Myotonia Congenita

(2014) Kotdaji Ha et al.   MOLECULES AND CELLS

Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia

(2014) A. Furby et al.   NEUROMUSCULAR DISORDERS

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

(2013) Jean-François Desaphy et al.   EXPERIMENTAL NEUROLOGY

Nondystrophic myotonia: Challenges and future directions

(2013) Jaya R. Trivedi et al.   EXPERIMENTAL NEUROLOGY

Modifiers of heart and muscle function: where genetics meets physiology

(2013) Kayleigh A. Swaggart et al.   EXPERIMENTAL PHYSIOLOGY

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

(2013) Raffaella Brugnoni et al.   JOURNAL OF HUMAN GENETICS

CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel

(2013) Daniela Skálová et al.   PLoS One

Molecular determinants of common gating of a ClC chloride channel

(2013) Brett Bennetts et al.   Nature Communications

Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita

(2012) Sebastian Weinberger et al.   JOURNAL OF PHYSIOLOGY-LONDON

Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients

(2012) Gianna Ulzi et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

(2012) O. Raheem et al.   NEUROLOGY

Genetic modifiers of neurological disease

(2011) Jennifer A Kearney   CURRENT OPINION IN GENETICS & DEVELOPMENT

Inter-subunit communication and fast gate integrity are important for common gating in hClC-1

(2010) Jennie M. Cederholm et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

(2010) Miriam H. Meisler et al.   JOURNAL OF PHYSIOLOGY-LONDON

Neurological channelopathies: new insights into disease mechanisms and ion channel function

(2010) Dimitri M. Kullmann et al.   JOURNAL OF PHYSIOLOGY-LONDON

Structure of a Eukaryotic CLC Transporter Defines an Intermediate State in the Transport Cycle

(2010) Liang Feng et al.   SCIENCE

The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments

(2009) S. A. Bustin et al.   CLINICAL CHEMISTRY