(Q34639658)

3 August 2017

title

Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations (English)

1 reference

3 August 2017

7

Rosa Vargas-Poussou

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Lionel Rostaing

6

object named as

Lionel Rostaing

1 reference

3 August 2017

Stanislas Faguer

1

1 reference

3 August 2017

Dominique Chauveau

2

1 reference

3 August 2017

Pascal Cintas

3

1 reference

3 August 2017

Ivan Tack

4

1 reference

3 August 2017

Olivier Cointault

5

1 reference

3 August 2017

Rosa Vargas-Poussou

7

1 reference

3 August 2017

David Ribes

8

1 reference

3 August 2017

publication date

28 October 2010

1 reference

Clinical Journal of the American Society of Nephrology

3 August 2017

published in

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3 August 2017

volume

6

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3 August 2017

issue

2

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3 August 2017

page(s)

355-360

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Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

Function and regulation of claudins in the thick ascending limb of Henle

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

Molecular determinants of magnesium homeostasis: insights from human disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

Mechanism of hypokalemia in magnesium deficiency.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

Renal localization and function of the tight junction protein, claudin-19.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

The primary periodic paralyses: diagnosis, pathogenesis and treatment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

Tight junctions in Schwann cells of peripheral myelinated axons: a lesson from claudin-19-deficient mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

In vivo and in vitro functional characterization of Andersen's syndrome mutations.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

The apical and basal environments of the retinal pigment epithelium regulate the maturation of tight junctions during development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

Primary gene structure and expression studies of rodent paracellin-1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

Claudin function in the thick ascending limb of Henle's loop.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052226

Muscle fiber conduction velocity in arg1239his mutation in hypokalemic periodic paralysis

26 October 2018

1 reference

12 December 2020

Exercise test in muscle channelopathies and other muscle disorders

1 reference

12 December 2020

The exercise test in periodic paralysis

1 reference

12 December 2020

The muscle fiber conduction velocity and power spectra in familial hypokalemic periodic paralysis

1 reference

12 December 2020

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

1 reference

12 December 2020

Electromyography guides toward subgroups of mutations in muscle channelopathies.

1 reference

12 December 2020

Identifiers

DOI

10.2215/CJN.02870310

1 reference

3 August 2017

1 reference

3 August 2017

1 reference