Identification and Functional Characterization ofCLCN1Mutations Found in Nondystrophic Myotonia Patients

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

(2014) Gianna Ulzi et al.   MOLECULAR BIOLOGY REPORTS

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

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

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2

(2012) Rosanna Cardani et al.   JOURNAL OF NEUROLOGY

A new explanation for recessive myotonia congenita: Exon deletions and duplications in CLCN1

(2012) D. L. Raja Rayan et al.   NEUROLOGY

GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl− Channel Auxiliary Subunit

(2012) Elena Jeworutzki et al.   NEURON

Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita

(2011) Anna Modoni et al.   JOURNAL OF CLINICAL NEUROPHYSIOLOGY

Myotonia associated with caveolin-3 mutation

(2011) Margherita Milone et al.   MUSCLE & NERVE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Sodium channelopathies of skeletal muscle result from gain or loss of function

(2010) Karin Jurkat-Rott et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Chloride channelopathies

(2009) Rosa Planells-Cases et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment

(2009) E. Matthews et al.   BRAIN

Redefining the clinical phenotypes of non-dystrophic myotonic syndromes

(2009) J Trip et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

(2008) Thomas J. Jentsch   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia

(2008) Jeroen Trip et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1

(2007) Hinni Papponen et al.   MUSCLE & NERVE