Kaate R. J. Vanmolkot

Author

Also Known As

K R J Vanmolkot, K. R. J. Vanmolkot, K. R.J. Vanmolkot, K. Vanmolkot, K.R.J. Vanmolkot, Kaate R J Vanmolkot, Kaate R. J. Vanmolkot, Kaate R.J. Vanmolkot, Kaate RJ Vanmolkot

Publications

2.3K

Citations

H-Index

Concepts

All Affiliations

Leiden University Medical Center Leiden University Radboud University Nijmegen Radboud University Medical Center Rijnland Ziekenhuis

About

Kaate R. J. Vanmolkot is an author at Leiden University Medical Center specializing in medicine, neurogenetics, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	1.2K
2	Neurology	9	9	797
3	Social Sciences	4	4	223
4	Molecular Genetics	2	2	405
5	Cell Biology	1	1	444

Kaate R. J. Vanmolkot

Publications

2.1K

Citations

H-Index

Page 1

	Year	Citations
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
p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad, The American Journal of Human Genetics Eec SyndromeDevelopmental BiologyGenetic DisorderGeneticsPathology	2001	376
Novel mutations in the Na<sup>+</sup>, K<sup>+</sup>‐ATPase pump gene <i>ATP1A2</i> associated with familial hemiplegic migraine and benign familial infantile convulsions Kaate R. J. Vanmolkot, E. E. Kors, Jouke‐Jan Hottenga, Annals of Neurology	2003	357
Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake Boukje de Vries, Hafsa Mamsa, Anine H Stam, Archives of Neurology	2009	145
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine Boukje de Vries, Tobias Freilinger, Kaate R. J. Vanmolkot, Neurology	2007	120
Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new <i>CACNA1A</i> mutation E. E. Kors, Atle Melberg, Kaate R. J. Vanmolkot, Neurology Neurological DisorderGeneticsSwedish FamilyEarly Onset AtaxiaEpilepsy	2004	116
Shared genetic factors in migraine and depression Amber H. van der Stam, Boukje de Vries, A. Cecile J.W. Janssens, Neurology	2010	107
The novel p.L1649Q mutation in the<i>SCN1A</i>epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies Kaate R. J. Vanmolkot, Elena Babini, Boukje de Vries, Human Mutation	2007	105
Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 <i>ATP1A2</i> mutation Kaate R. J. Vanmolkot, Hans Stroink, Jan B. Koenderink, Annals of Neurology	2006	83
Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine Kaate R. J. Vanmolkot, E. E. Kors, Ülkü Türk Börü, European Journal of Human Genetics Molecular NeuroscienceGeneticsNeurologyNeuroscienceMedicine	2006	71

Page 1