Author details

Full Name

Rune R Frants

Affiliation

ORCID

Career Start Year

1975

Papers

408

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
27604306	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.	Brain	2016
24717985	Early-onset facioscapulohumeral muscular dystrophy type 1 with some atypical features.	Journal of Child Neurology	2015
23985897	RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice.	Cephalalgia	2014
23147163	Migraine is not associated with enhanced atherosclerosis.	Cephalalgia	2013
23793025	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Nat Genet	2013
23593020	Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.	PLoS Genet	2013
23558685	Dysferlin regulates cell adhesion in human monocytes.	Journal of Biological Chemistry	2013
21940993	Self-regulated alternative splicing at the AHNAK locus.	FASEB Journal	2012
22479202	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	PLoS Genet	2012
22683712	Genome-wide association analysis identifies susceptibility loci for migraine without aura.	Nat Genet	2012
23143600	Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.	Nat Genet	2012
22238593	A genome-wide association search for type 2 diabetes genes in African Americans.	PLoS One	2012
21870131	Purkinje cell-specific ablation of Cav2.1 channels is sufficient to cause cerebellar ataxia in mice.	Cerebellum	2012
21596365	Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.	Am J Hum Genet	2011
20974584	A long-term follow-up study of 18 patients with sporadic hemiplegic migraine.	Cephalalgia	2011
20631222	Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice.	J Neurophysiol	2010
21079765	Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity.	PLoS One	2010
20802479	Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.	Nat Genet	2010
20694146	Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.	PLoS One	2010
20975055	Clinical features of facioscapulohumeral muscular dystrophy 2.	Neurology	2010
20724583	A unifying genetic model for facioscapulohumeral muscular dystrophy.	Science	2010
20816412	Genetics of headaches.	Handb Clin Neurol	2010
20180344	[Facioscapulohumeral muscular dystrophy].	Nederlands Tijdschrift voor Tandheelkunde	2010
20391530	Quantitative cortical synapse proteomics of a transgenic migraine mouse model with mutated Ca(V)2.1 calcium channels.	Proteomics	2010
20081858	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Nat Genet	2010
20346174	High levels of dietary stearate promote adiposity and deteriorate hepatic insulin sensitivity.	Nutrition and Metabolism	2010
20071666	Shared genetic factors in migraine and depression: evidence from a genetic isolate.	Neurology	2010
20206332	Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.	American Journal of Human Genetics	2010
20067957	Genetic architecture of plasma adiponectin overlaps with the genetics of metabolic syndrome-related traits.	Diabetes Care	2010
19875384	TREX1 gene variant in neuropsychiatric systemic lupus erythematosus.	Ann Rheum Dis	2010
20585974	Insulin-resistance and metabolic syndrome are related to executive function in women in a large family-based study.	Eur J Epidemiol	2010
19912464	Menopause impacts the relation of plasma adiponectin levels with the metabolic syndrome.	J Intern Med	2010
20095921	Vitamin D receptor: a new risk marker for clinical restenosis after percutaneous coronary intervention.	Expert Opin Ther Targets	2010
20018283	Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.	Atherosclerosis	2010
20186955	High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice.	Ann Neurol	2010
19809486	Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.	European Journal of Human Genetics	2009
19593370	Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).	PLoS Genet	2009
19139306	Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.	Arch Neurol	2009
19220312	First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy.	Cephalalgia	2009
19034316	The expression of type III hyperlipoproteinemia: involvement of lipolysis genes.	Eur J Hum Genet	2009
19728363	Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.	Human Mutation	2009
19520699	Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation.	J Neurol Neurosurg Psychiatry	2009
19455354	Molecular genetics of migraine.	Hum Genet	2009
19874388	Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation.	Epilepsia	2009
18353624	Alpha-1 antitrypsin Null mutations and severity of emphysema.	Respiratory Medicine	2008
19185185	Familial hemiplegic migraine.	Adv Genet	2008
18028456	Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.	Clin Genet	2008
18676988	A high-density association screen of 155 ion transport genes for involvement with common migraine.	Hum Mol Genet	2008
18981015	Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families.	Clinical Cancer Research	2008
18293354	Reduced ACh release at neuromuscular synapses of heterozygous leaner Ca(v)2.1-mutant mice.	Synapse	2008