(Q43774424)

26 November 2017

title

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

1 reference

26 November 2017

1 reference

11

1 reference

26 November 2017

13

1 reference

26 November 2017

14

1 reference

26 November 2017

8

Lucia Morandi

1 reference

26 November 2017

6

Lara Colleoni

1 reference

26 November 2017

2

Dimos Kapetis

1 reference

26 November 2017

3

Paola Imbrici

1 reference

26 November 2017

1

Raffaella Brugnoni

1 reference

26 November 2017

5

Eleonora Canioni

1 reference

26 November 2017

9

Paola Cudia

1 reference

26 November 2017

Jean-François Desaphy

series ordinal

12

object named as

Jean-Francois Desaphy

1 reference

26 November 2017

Mauro Pessia

4

1 reference

26 November 2017

Nicole Kerlero de Rosbo

series ordinal

7

1 reference

26 November 2017

Nasrin Gashemi

series ordinal

10

1 reference

26 November 2017

publication date

6 June 2013

1 reference

Journal of Human Genetics

26 November 2017

published in

1 reference

26 November 2017

volume

58

1 reference

26 November 2017

issue

9

1 reference

26 November 2017

page(s)

581-587

1 reference

Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition

26 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

https://api.crossref.org/works/10.1038%2FJHG.2013.58

1 reference

7 January 2021

Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Functional and structural conservation of CBS domains from CLC chloride channels.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Novel CLCN1 mutations with unique clinical and electrophysiological consequences

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Evaluation of comparative protein modeling by MODELLER

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

GROMACS 4: Algorithms for Highly Efficient, Load-Balanced, and Scalable Molecular Simulation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

PROCHECK: a program to check the stereochemical quality of protein structures

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

RNA landscape of evolution for optimal exon and intron discrimination

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Silencer elements as possible inhibitors of pseudoexon splicing

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Myotonia levior is a chloride channel disorder.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Molecular mechanisms of ion conduction in ClC-type chloride channels: lessons from disease-causing mutations.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Residues lining the inner pore vestibule of human muscle chloride channels

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Functional study of CLC-1 mutants expressed in Xenopus oocytes reveals that a C-terminal region Thr891-Ser892-Thr893 is responsible for the effects of protein kinase C activator

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Cytoplasmic ATP-sensing domains regulate gating of skeletal muscle ClC-1 chloride channels

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Functional study of cytoplasmic loops of human skeletal muscle chloride channel, hClC-1.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.58

7 January 2021

Identifiers

DOI

10.1038/JHG.2013.58

1 reference

Dimensions Publication ID

26 November 2017

1016279748

0 references

1 reference