(Q24673082)

English

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families

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scholarly article

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Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families (English)

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hypokalemic periodic paralysis

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based on heuristic

inferred from title

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author name string

A Elbaz

1

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J Vale-Santos

2

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K Jurkat-Rott

3

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P Lapie

4

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R A Ophoff

5

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B Bady

6

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T P Links

7

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C Piussan

8

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A Vila

9

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N Monnier

10

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language of work or name

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publication date

February 1995

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American Journal of Human Genetics

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56

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374-80

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2

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Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

A novel SCN4A mutation causing myotonia aggravated by cold and potassium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

A calcium channel mutation causing hypokalemic periodic paralysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

The 1993-94 Généthon human genetic linkage map

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

Primary structure of the receptor for calcium channel blockers from skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

The genomic structure of the human skeletal muscle sodium channel gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

7 April 2017

On estimating the relation between blood group and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

28 September 2017

Mutation of human short tandem repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

28 September 2017

Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

28 September 2017

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

28 September 2017

Auxiliary subunits of voltage-gated ion channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

28 September 2017

DNA polymorphism and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

28 September 2017

A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

28 September 2017

A second-generation linkage map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

28 September 2017

Suppression of sodium channel function in differentiating C2 muscle cells stably overexpressing rat androgen receptors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

28 September 2017

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

28 September 2017

Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

30 May 2018

Functional expression of sodium channel mutations identified in families with periodic paralysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801148

30 May 2018

Structure and function of voltage-gated ion channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/7847370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/7847370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families

1 reference

https://pubmed.ncbi.nlm.nih.gov/7847370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families

1 reference

https://pubmed.ncbi.nlm.nih.gov/7847370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7847370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/7847370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Schisis-association

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320560406

7 January 2021

based on heuristic

inferred from DOI database lookup

CNS anomalies and the midline as a "developmental field"

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320560406

7 January 2021

based on heuristic

inferred from DOI database lookup

Caudal deficiency and asplenia anomalies in sibs

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320560406

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked laterality sequence: situs inversus, complex cardiac defects, splenic defects.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320560406

7 January 2021

based on heuristic

inferred from DOI database lookup

Ectopia cordis, midline defects and chromosome abnormalities: An epidemiologic perspective

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320560406

7 January 2021

based on heuristic

inferred from DOI database lookup

Polyasplenia, caudal deficiency, and agenesis of the corpus callosum

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320560406

7 January 2021

based on heuristic

inferred from DOI database lookup

Value of clinical analysis in epidemiological research: The Spanish registry experience

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320560406

7 January 2021

based on heuristic

inferred from DOI database lookup

Segmentation anomalies of the vertebras and ribs: a developmental field defect: epidemiologic evidence

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320560406

7 January 2021

based on heuristic

inferred from DOI database lookup

Developmental field defects and associations: epidemiological evidence of their relationship

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320560406

7 January 2021

based on heuristic

inferred from DOI database lookup

New case of axial mesodermal dysplasia sequence: epidemiologic evidence of a single entity

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320560406

7 January 2021

based on heuristic

inferred from DOI database lookup

Spina bifida and hypospadias: a non random association or an X-linked recessive condition?

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320560406

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/AJMG.1320560406

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