Rune R. Frants - Concepedia

Author

Rune R. Frants

Also Known As

Caroline S Fox, Frants, Rune, Gati, L.J. Meyer, Malene Kirchmann, Marjo Hiekkala, R FRANTS, R Frants, R R Frants, R. Frants

394

Publications

31.9K

Citations

H-Index

233

Concepts

All Affiliations

Leiden University Medical Center Leiden University University of Amsterdam Radboud University Nijmegen Radboud University Medical Center

About

Rune R. Frants is an author at Leiden University Medical Center specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	64	163	19K
2	Natural Sciences	18	22	1.3K
3	Health Sciences	13	14	1.2K
4	Engineering	3	3	214
5	Arts	1	1	101

Rune R. Frants

261

Publications

25.9K

Citations

H-Index

Page 1

	Year	Citations
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4 Roel A. Ophoff, Gisela M. Terwindt, Monique N. Vergouwe, Cell ChannelopathiesGenetic DisorderGeneticsNeuroscienceNeurology	1996	2.3K
Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus Alexander Kamb, Donna Shattuck-Eidens, Rosalind A. Eeles, Nature Genetics Tumor BiologyChromosome 9PGeneticsMelanomaP16 Gene	1994	847
A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy Richard J.L.F. Lemmers, Patrick J. van der Vliet, Rinse Klooster, Science Facioscapulohumeral Muscular DystrophyDevelopmental BiologyMendelian DisorderFshd PatientsGenetic Disorder	2010	756
A Cacna1a Knockin Migraine Mouse Model with Increased Susceptibility to Cortical Spreading Depression Arn M. J. M. van den Maagdenberg, Daniela Pietrobon, Tommaso Pizzorusso, Neuron PsychiatryNeurophysiologyCortical Spreading DepressionNeurotransmitterNeurology	2004	685
Localization of the gene for Cowden disease to chromosome 10q22–23 Marcel Nelen, G.W. Padberg, E Peeters, Nature Genetics Cowden DiseaseGeneticsPathogenesisPathologyMolecular Genetics	1996	669
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy Cisca Wijmenga, Jane Hewitt, Lodewijk A. Sandkuijl, Nature Genetics ChromatinMendelian DisorderGenetic DisorderGeneticsMolecular Biology	1992	662
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek, Nature Genetics Rare DiseasesDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2012	641
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy Anna Richards, Arn M. J. M. van den Maagdenberg, Joanna C. Jen, Nature Genetics Ocular DiseaseC-terminal TruncationsRetinaOphthalmologyGenetic Disorder	2007	444
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter Peter A. J. Leegwater, Gerre Vermeulen, Andrea A.M. Könst, Nature Genetics Translational BiologyDisease MechanismWhite MatterPathogenesisImmunology	2001	412
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy Petra G.M. van Overveld, Richard J F L Lemmers, Lodewijk A. Sandkuijl, Nature Genetics GeneticsMolecular BiologyDegenerative DiseaseMedicineNeurogenetics	2003	404

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