(Q36953843)

17 August 2017

Non-dystrophic myotonia: prospective study of objective and patient reported outcomes (English)

1 reference

17 August 2017

16

Michael G Hanna

1 reference

17 August 2017

Jaya R Trivedi

1

1 reference

17 August 2017

Brian Bundy

2

1 reference

17 August 2017

Jeffrey Statland

3

1 reference

17 August 2017

Mohammad Salajegheh

4

1 reference

17 August 2017

Dipa Raja Rayan

5

1 reference

17 August 2017

Shannon L Venance

6

1 reference

17 August 2017

Yunxia Wang

7

1 reference

17 August 2017

Doreen Fialho

8

1 reference

17 August 2017

Emma Matthews

9

1 reference

17 August 2017

James Cleland

10

1 reference

17 August 2017

Nina Gorham

11

1 reference

17 August 2017

Laura Herbelin

12

1 reference

17 August 2017

Stephen Cannon

13

1 reference

17 August 2017

Anthony Amato

14

1 reference

17 August 2017

Robert C Griggs

15

1 reference

17 August 2017

Richard J Barohn

17

1 reference

17 August 2017

CINCH Consortium

18

1 reference

17 August 2017

language of work or name

English

0 references

publication date

13 June 2013

1 reference

17 August 2017

1 reference

17 August 2017

136

1 reference

17 August 2017

Pt 7

1 reference

17 August 2017

2189-2200

1 reference

Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

A quantitative measure of handgrip myotonia in non-dystrophic myotonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Measuring quality of life impairment in skeletal muscle channelopathies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

An interactive voice response diary for patients with non-dystrophic myotonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Pregnancy in women with myotonia congenita

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Construction and validation of a quality of life questionnaire for neuromuscular disease (INQoL).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Pathomechanisms in channelopathies of skeletal muscle and brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Phenotypic variability in myotonia congenita

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Correlating phenotype and genotype in the periodic paralyses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Myotonic dystrophy type 2 and related myotonic disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Channelopathies: the nondystrophic myotonias and periodic paralyses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Duchenne-Becker muscular dystrophy and the nondystrophic myotonias. Paradigms for loss of function and change of function of gene products

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Genetics and Physiology of the Myotonic Muscle Disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

AAEE minimonograph #27: differential diagnosis of myotonic syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Population frequencies of inherited neuromuscular diseases—A world survey

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

The MOS 36-ltem Short-Form Health Survey (SF-36)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Linkage of atypical myotonia congenita to a sodium channel locus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Myotonia in colchicine myoneuropathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Acetazolamide-responsive myotonia congenita.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Role of disease severity, illness perceptions, and mood on quality of life in muscle disease

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Familial cramp due to potassium-aggravated myotonia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692030

Balance in elderly patients: the "get-up and go" test

4 September 2018

1 reference

12 December 2020

The exercise test in periodic paralysis

1 reference

12 December 2020

Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. The FSH DY Group

1 reference

12 December 2020

Electrical myotonia of rabbit skeletal muscles by HMG-CoA reductase inhibitors

1 reference

12 December 2020

Myotonia fluctuans. A third type of muscle sodium channel disease

1 reference

12 December 2020

Fluctuating clinical myotonia and weakness from Thomsen's disease occurring only during pregnancies

1 reference

12 December 2020

Electromyography guides toward subgroups of mutations in muscle channelopathies.

1 reference

12 December 2020

Cold extends electromyography distinction between ion channel mutations causing myotonia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Clofibrate-induced myotonia in rats

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWT133

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

23771340

1 reference