Concepedia

J. Vale-Santos

JV

Statistics

Publications

5

Citations

952

H-Index

5

Active since

1994

Affiliations

Pitié-Salpêtrière Hospital(Current)

Sorbonne Université

Inserm

Genethon (France)

Universität Ulm

J. Vale-Santos is an author at Pitié-Salpêtrière Hospital specializing in life sciences, ion channel disorders, and molecular genetics.

Publications per year

1994–2000

5

Publications

5

A calcium channel mutation causing hypokalemic periodic paralysis

K Jurkat-Rott, Frank Lehmann‐Horn, Alexis Elbaz et al. · Human Molecular Genetics · 1994 · 315 citations

, , +17

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

Karin Jurkat‐Rott, Nenad Mitrović, Chao Hang et al. · Proceedings of the National Academy of Sciences · 2000 · 265 citations

, , +17

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

B. Fontaine, J. Vale-Santos, K Jurkat-Rott et al. · Nature Genetics · 1994 · 234 citations

, , +7

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.

Alexis Elbaz, J. Vale-Santos, Karin Jurkat‐Rott et al. · PubMed · 1995 · 113 citations · Full text

, , +14

Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.

R.H. Boerman, R. A. Ophoff, Thera P. Links et al. · Journal of Medical Genetics · 1995 · 25 citations · Full text

, , +13

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