(Q24517877)

2

0 references

T P Links

3

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R van Eijk

4

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L A Sandkuijl

5

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A Elbaz

6

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J E Vale-Santos

7

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A R Wintzen

8

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J C van Deutekom

9

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D E Isles

Journal of Medical Genetics

10

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language of work or name

English

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publication date

January 1995

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published in

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volume

32

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issue

1

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page(s)

44-7

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cites work

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LETHAL GENES AND ANALYSIS OF DIFFERENTIATION

19 March 2017

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Refined localization of the alpha 1-subunit of the skeletal muscle L-type voltage-dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization

19 March 2017

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Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

19 March 2017

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A calcium channel mutation causing hypokalemic periodic paralysis

19 March 2017

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

19 March 2017

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Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parameters

19 March 2017

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Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family

19 March 2017

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

19 March 2017

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

19 March 2017

1 reference

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Linkage of atypical myotonia congenita to a sodium channel locus

19 March 2017

1 reference

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Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

19 March 2017

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Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

7 April 2017

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Restoration of excitation-contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA.

27 September 2017

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Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

27 September 2017

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Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.

27 September 2017

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Voltage-sensitive Ca2+ channels

27 September 2017

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Calcification within muscle fibres in the periodic paralyses.

27 September 2017

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Induction of calcium currents by the expression of the alpha 1-subunit of the dihydropyridine receptor from skeletal muscle

30 May 2018

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Permanent muscle weakness in familial hypokalaemic periodic paralysis. Clinical, radiological and pathological aspects.

30 May 2018

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Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: A delayed mutation?

30 May 2018

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

30 May 2018

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12 December 2020

Muscle fiber conduction velocity in the diagnosis of sporadic hypokalemic periodic paralysis

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12 December 2020

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

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12 December 2020

Genetic heterogeneity of familial hemiplegic migraine

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12 December 2020

Calcium activation of electrically inexcitable muscle fibers in primary hypokalemic periodic paralysis

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12 December 2020

Studies on a patient with hypokalemic familial periodic paralysis

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12 December 2020

Periodic paralysis and the sodium-potassium pump

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12 December 2020

Familial periodic paralysis: low muscle potassium permeability or high sodium permeability?

1 reference

12 December 2020