Rune R. Frants - Publications

Affiliations: 
1996-2009 Leiden University, Leiden, Netherlands 
Website:
https://hoogleraren.leidenuniv.nl/id/2979

253 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 Stam AH, Kothari PH, Shaikh A, Gschwendter A, Jen JC, Hodgkinson S, Hardy TA, Hayes M, Kempster PA, Kotschet KE, Bajema IM, van Duinen SG, Maat-Schieman ML, de Jong PT, de Smet MD, ... ... Frants RR, et al. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain : a Journal of Neurology. PMID 27604306 DOI: 10.1093/Brain/Aww217  1
2015 Dorobek M, van der Maarel SM, Lemmers RJ, Ryniewicz B, Kabzińska D, Frants RR, Gawel M, Walecki J, Hausmanowa-Petrusewicz I. Early-onset facioscapulohumeral muscular dystrophy type 1 with some atypical features. Journal of Child Neurology. 30: 580-7. PMID 24717985 DOI: 10.1177/0883073814528281  1
2014 de Vries B, Eising E, Broos LA, Koelewijn SC, Todorov B, Frants RR, Boer JM, Ferrari MD, Hoen PA, van den Maagdenberg AM. RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice. Cephalalgia : An International Journal of Headache. 34: 174-82. PMID 23985897 DOI: 10.1177/0333102413502736  1
2013 Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U, McArdle WL, Quaye L, Koiranen M, ... ... Frants RR, et al. Genome-wide meta-analysis identifies new susceptibility loci for migraine. Nature Genetics. 45: 912-7. PMID 23793025 DOI: 10.1038/Ng.2676  1
2013 Krom YD, Thijssen PE, Young JM, den Hamer B, Balog J, Yao Z, Maves L, Snider L, Knopp P, Zammit PS, Rijkers T, van Engelen BG, Padberg GW, Frants RR, Tawil R, et al. Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. Plos Genetics. 9: e1003415. PMID 23593020 DOI: 10.1371/journal.pgen.1003415  1
2013 de Morrée A, Flix B, Bagaric I, Wang J, van den Boogaard M, Grand Moursel L, Frants RR, Illa I, Gallardo E, Toes R, van der Maarel SM. Dysferlin regulates cell adhesion in human monocytes. The Journal of Biological Chemistry. 288: 14147-57. PMID 23558685 DOI: 10.1074/Jbc.M112.448589  1
2013 Stam AH, Weller CM, Janssens AC, Aulchenko YS, Oostra BA, Frants RR, van den Maagdenberg AM, Ferrari MD, van Duijn CM, Terwindt GM. Migraine is not associated with enhanced atherosclerosis. Cephalalgia : An International Journal of Headache. 33: 228-35. PMID 23147163 DOI: 10.1177/0333102412466966  1
2012 Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, ... ... Frants RR, et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nature Genetics. 44: 1370-4. PMID 23143600 DOI: 10.1038/ng.2454  1
2012 Freilinger T, Anttila V, de Vries B, Malik R, Kallela M, Terwindt GM, Pozo-Rosich P, Winsvold B, Nyholt DR, van Oosterhout WP, Artto V, Todt U, Hämäläinen E, Fernández-Morales J, Louter MA, ... ... Frants RR, et al. Genome-wide association analysis identifies susceptibility loci for migraine without aura. Nature Genetics. 44: 777-82. PMID 22683712 DOI: 10.1038/Ng.2307  1
2012 Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, Fuchsberger C, Tanaka T, Morris AP, Small K, Isaacs A, ... ... Frants R, et al. 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 Genetics. 8: e1002607. PMID 22479202 DOI: 10.1371/Journal.Pgen.1002607  1
2012 de Morrée A, Droog M, Grand Moursel L, Bisschop IJ, Impagliazzo A, Frants RR, Klooster R, van der Maarel SM. Self-regulated alternative splicing at the AHNAK locus. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 26: 93-103. PMID 21940993 DOI: 10.1096/Fj.11-187971  1
2012 Todorov B, Kros L, Shyti R, Plak P, Haasdijk ED, Raike RS, Frants RR, Hess EJ, Hoebeek FE, De Zeeuw CI, van den Maagdenberg AM. Purkinje cell-specific ablation of Cav2.1 channels is sufficient to cause cerebellar ataxia in mice. Cerebellum (London, England). 11: 246-58. PMID 21870131 DOI: 10.1007/S12311-011-0302-1  1
2011 de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, et al. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. American Journal of Human Genetics. 88: 796-804. PMID 21596365 DOI: 10.1016/J.Ajhg.2011.04.018  1
2011 Stam AH, Louter MA, Haan J, de Vries B, van den Maagdenberg AM, Frants RR, Ferrari MD, Terwindt GM. A long-term follow-up study of 18 patients with sporadic hemiplegic migraine. Cephalalgia : An International Journal of Headache. 31: 199-205. PMID 20974584 DOI: 10.1177/0333102410375629  1
2010 de Morrée A, Hensbergen PJ, van Haagen HHHBM, Dragan I, Deelder AM, 't Hoen PAC, Frants RR, van der Maarel SM. Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity Plos One. 5. PMID 21079765 DOI: 10.1371/journal.pone.0013854  1
2010 Van Den Maagdenberg AM, Terwindt GM, Haan J, Frants RR, Ferrari MD. Genetics of headaches. Handbook of Clinical Neurology. 97: 85-97. PMID 20816412 DOI: 10.1016/S0072-9752(10)97006-1  1
2010 Anttila V, Stefansson H, Kallela M, Todt U, Terwindt GM, Calafato MS, Nyholt DR, Dimas AS, Freilinger T, Müller-Myhsok B, Artto V, Inouye M, Alakurtti K, Kaunisto MA, Hämäläinen E, ... ... Frants RR, et al. Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nature Genetics. 42: 869-73. PMID 20802479 DOI: 10.1038/Ng.652  1
2010 Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science (New York, N.Y.). 329: 1650-3. PMID 20724583 DOI: 10.1126/Science.1189044  1
2010 de Morrée A, Hulsik DL, Impagliazzo A, van Haagen HHHBM, de Galan P, van Remoortere A, 't Hoen PAC, van Ommen GB, Frants RR, van der Maarel SM. Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling Plos One. 5. PMID 20694146 DOI: 10.1371/journal.pone.0011940  1
2010 Kaja S, Van de Ven RC, Broos LA, Frants RR, Ferrari MD, Van den Maagdenberg AM, Plomp JJ. Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice. Journal of Neurophysiology. 104: 1445-55. PMID 20631222 DOI: 10.1152/Jn.00012.2010  1
2010 Klychnikov OI, Li KW, Sidorov IA, Loos M, Spijker S, Broos LA, Frants RR, Ferrari MD, Mayboroda OA, Deelder AM, Smit AB, van den Maagdenberg AM. Quantitative cortical synapse proteomics of a transgenic migraine mouse model with mutated Ca(V)2.1 calcium channels. Proteomics. 10: 2531-5. PMID 20391530 DOI: 10.1002/pmic.200900733  1
2010 van den Berg SA, Guigas B, Bijland S, Ouwens M, Voshol PJ, Frants RR, Havekes LM, Romijn JA, van Dijk KW. High levels of dietary stearate promote adiposity and deteriorate hepatic insulin sensitivity. Nutrition & Metabolism. 7: 24. PMID 20346174 DOI: 10.1186/1743-7075-7-24  1
2010 Lemmers RJLF, van der Vliet PJ, van der Gaag KJ, Zuniga S, Frants RR, de Knijff P, van der Maarel SM. Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution American Journal of Human Genetics. 86: 364-377. PMID 20206332 DOI: 10.1016/j.ajhg.2010.01.035  1
2010 van den Maagdenberg AM, Pizzorusso T, Kaja S, Terpolilli N, Shapovalova M, Hoebeek FE, Barrett CF, Gherardini L, van de Ven RC, Todorov B, Broos LA, Tottene A, Gao Z, Fodor M, De Zeeuw CI, ... Frants RR, et al. High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice. Annals of Neurology. 67: 85-98. PMID 20186955 DOI: 10.1002/Ana.21815  1
2010 Monraats PS, Fang Y, Pons D, Pires NM, Pols HA, Zwinderman AH, de Maat MP, Doevendans PA, DeWinter RJ, Tio RA, Waltenberger J, Frants RR, Quax PH, van der Laarse A, van der Wall EE, et al. Vitamin D receptor: a new risk marker for clinical restenosis after percutaneous coronary intervention. Expert Opinion On Therapeutic Targets. 14: 243-51. PMID 20095921 DOI: 10.1517/14728220903520929  0.01
2010 Henneman P, Aulchenko YS, Frants RR, Zorkoltseva IV, Zillikens MC, Frolich M, Oostra BA, van Dijk KW, van Duijn CM. Genetic architecture of plasma adiponectin overlaps with the genetics of metabolic syndrome-related traits. Diabetes Care. 33: 908-13. PMID 20067957 DOI: 10.2337/Dc09-1385  0.01
2010 Heid IM, Henneman P, Hicks A, Coassin S, Winkler T, Aulchenko YS, Fuchsberger C, Song K, Hivert MF, Waterworth DM, Timpson NJ, Richards JB, Perry JR, Tanaka T, Amin N, ... ... Frants RR, et al. Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals. Atherosclerosis. 208: 412-20. PMID 20018283 DOI: 10.1016/J.Atherosclerosis.2009.11.035  1
2009 de Vries B, Stam AH, Kirkpatrick M, Vanmolkot KR, Koenderink JB, van den Heuvel JJ, Stunnenberg B, Goudie D, Shetty J, Jain V, van Vark J, Terwindt GM, Frants RR, Haan J, van den Maagdenberg AM, et al. Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation. Epilepsia. 50: 2503-4. PMID 19874388 DOI: 10.1111/J.1528-1167.2009.02186.X  1
2009 Klooster R, Straasheijm K, Shah B, Sowden J, Frants R, Thornton C, Tawil R, van der Maarel S. Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level. European Journal of Human Genetics : Ejhg. 17: 1615-24. PMID 19809486 DOI: 10.1038/ejhg.2009.62  1
2009 de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Human Mutation. 30: 1449-59. PMID 19728363 DOI: 10.1002/humu.21091  1
2009 Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR, Lock LF, et al. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). Plos Genetics. 5: e1000559. PMID 19593370 DOI: 10.1371/Journal.Pgen.1000559  1
2009 Stam AH, Luijckx GJ, Poll-The BT, Ginjaar IB, Frants RR, Haan J, Ferrari MD, Terwindt GM, Maagdenberg AMJMvd. Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation Journal of Neurology, Neurosurgery, and Psychiatry. 80: 1125-1129. PMID 19520699 DOI: 10.1136/Jnnp.2009.177279  1
2009 de Vries B, Frants RR, Ferrari MD, van den Maagdenberg AMJM. Molecular genetics of migraine Human Genetics. 126: 115-132. PMID 19455354 DOI: 10.1007/S00439-009-0684-Z  1
2009 Castro M, Stam A, Lemos C, Vries Bd, Vanmolkot K, Barros J, Terwindt G, Frants R, Sequeiros J, Ferrari, Pereira-Monteiro J, Maagdenberg Avd. First Mutation in the Voltage-Gated Nav1.1 Subunit Gene SCN1A with Co-Occurring Familial Hemiplegic Migraine and Epilepsy Cephalalgia. 29: 308-313. PMID 19220312 DOI: 10.1111/J.1468-2982.2008.01721.X  1
2009 de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM. Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Archives of Neurology. 66: 97-101. PMID 19139306 DOI: 10.1001/Archneurol.2008.535  1
2009 Henneman P, van der Sman-de Beer F, Moghaddam PH, Huijts P, Stalenhoef AF, Kastelein JJ, van Duijn CM, Havekes LM, Frants RR, van Dijk KW, Smelt AH. The expression of type III hyperlipoproteinemia: involvement of lipolysis genes. European Journal of Human Genetics : Ejhg. 17: 620-8. PMID 19034316 DOI: 10.1038/ejhg.2008.202  1
2009 Morrée Ad, Hulsik DL, Impagliazzo A, Haagen HHBv, Galan Pd, Remoortere Av, Hoen PAC’, Frants RR, Maarel SMvd. G.O.2 A primary sequence motif underlying calpain 3 substrate cleavage Neuromuscular Disorders. 19: 545-545. DOI: 10.1016/J.Nmd.2009.06.009  1
2008 Barrett CF, van den Maagdenberg AMJM, Frants RR, Ferrari MD. Chapter 3 Familial Hemiplegic Migraine Advances in Genetics. 63: 57-83. PMID 19185185 DOI: 10.1016/S0065-2660(08)01003-1  1
2008 de Snoo FA, Bishop DT, Bergman W, van Leeuwen I, van der Drift C, van Nieuwpoort FA, Out-Luiting CJ, Vasen HF, ter Huurne JA, Frants RR, Willemze R, Breuning MH, Gruis NA. Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 14: 7151-7. PMID 18981015 DOI: 10.1158/1078-0432.CCR-08-0403  1
2008 de Greef JC, Frants RR, van der Maarel SM. Epigenetic mechanisms of facioscapulohumeral muscular dystrophy. Mutation Research. 647: 94-102. PMID 18723032 DOI: 10.1016/j.mrfmmm.2008.07.011  1
2008 Nyholt DR, LaForge KS, Kallela M, Alakurtti K, Anttila V, Färkkilä M, Hämaläinen E, Kaprio J, Kaunisto MA, Heath AC, Montgomery GW, Göbel H, Todt U, Ferrari MD, Launer LJ, ... Frants RR, et al. A high-density association screen of 155 ion transport genes for involvement with common migraine. Human Molecular Genetics. 17: 3318-31. PMID 18676988 DOI: 10.1093/Hmg/Ddn227  1
2008 Graves TD, Imbrici P, Kors EE, Terwindt GM, Eunson LH, Frants RR, Haan J, Ferrari MD, Goadsby PJ, Hanna MG, van den Maagdenberg AM, Kullmann DM. Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2. Neurobiology of Disease. 32: 10-5. PMID 18606230 DOI: 10.1016/J.Nbd.2008.06.002  1
2008 Stam AH, Vanmolkot KRJ, Kremer HPH, Gärtner J, Brown J, Leshinsky-Silver E, Gilad R, Kors EE, Frankhuizen WS, Ginjaar HB, Haan J, Frants RR, Ferrari MD, Maagdenberg AMJMvd, Terwindt GM. CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine Clinical Genetics. 74: 481-485. PMID 18400034 DOI: 10.1111/J.1399-0004.2008.00996.X  1
2008 de Snoo FA, Hottenga JJ, Gillanders EM, Sandkuijl LA, Jones MP, Bergman W, van der Drift C, van Leeuwen I, van Mourik L, Huurne JA, Frants RR, Willemze R, Breuning MH, Trent JM, Gruis NA. Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families. European Journal of Human Genetics : Ejhg. 16: 1135-41. PMID 18398432 DOI: 10.1038/ejhg.2008.72  1
2008 Fregonese L, Stolk J, Frants RR, Veldhuisen B. Alpha-1 antitrypsin Null mutations and severity of emphysema. Respiratory Medicine. 102: 876-84. PMID 18353624 DOI: 10.1016/J.Rmed.2008.01.009  0.01
2008 Huang Y, de Morrée A, van Remoortere A, Bushby K, Frants RR, den Dunnen JT, van der Maarel SM. Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Human Molecular Genetics. 17: 1855-66. PMID 18334579 DOI: 10.1093/Hmg/Ddn081  1
2008 Kaja S, Van De Ven RC, Frants RR, Ferrari MD, Van Den Maagdenberg AM, Plomp JJ. Reduced ACh release at neuromuscular synapses of heterozygous leaner Ca(v)2.1-mutant mice. Synapse (New York, N.Y.). 62: 337-44. PMID 18293354 DOI: 10.1002/syn.20490  1
2008 Smit M, Knuff P, Frants RR, Klasen EC, Havekes LM. Familial dysbetalipoproteinemic subjects with the E3/E2 phenotype exhibit an E2 isoform with only one cysteine residue. Clinical Genetics. 32: 335-341. PMID 3690877 DOI: 10.1111/J.1399-0004.1987.Tb03298.X  1
2008 Frants RR, Pronk JC, Pals G, Defize J, Westerveld BD, Meuwissen SGM, Eriksen AW. THIRD NORDIC CONFERENCE Pepsinogen and gastric cancer Clinical Genetics. 26: 240-241. DOI: 10.1111/J.1399-0004.1984.Tb04377.X  0.01
2007 Pons D, Monraats PS, de Maat MP, Pires NM, Quax PH, van Vlijmen BJ, Rosendaal FR, Zwinderman AH, Doevendans PA, Waltenberger J, de Winter RJ, Tio RA, Frants RR, van der Laarse A, van der Wall EE, et al. The influence of established genetic variation in the haemostatic system on clinical restenosis after percutaneous coronary interventions. Thrombosis and Haemostasis. 98: 1323-8. PMID 18064331 DOI: 10.1160/Th07-04-0301  0.01
2007 Castro MJ, Stam AH, Lemos C, Barros J, Gouveia RG, Martins IP, Koenderink JB, Vanmolkot KR, Mendes AP, Frants RR, Ferrari MD, Sequeiros J, Pereira-Monteiro JM, van den Maagdenberg AM. Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine. Journal of Human Genetics. 52: 990-8. PMID 17952365 DOI: 10.1007/s10038-007-0205-7  1
2007 Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. American Journal of Human Genetics. 81: 884-94. PMID 17924332 DOI: 10.1086/521986  1
2007 Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, ... ... Frants RR, et al. C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nature Genetics. 39: 1068-70. PMID 17660820 DOI: 10.1038/Ng2082  1
2007 van de Ven RC, Hogers B, van den Maagdenberg AM, de Groot HJ, Ferrari MD, Frants RR, Poelmann RE, van der Weerd L, Kiihne SR. T(1) relaxation in in vivo mouse brain at ultra-high field. Magnetic Resonance in Medicine. 58: 390-5. PMID 17654587 DOI: 10.1002/mrm.21313  1
2007 Moen CJ, Tholens AP, Voshol PJ, de Haan W, Havekes LM, Gargalovic P, Lusis AJ, van Dyk KW, Frants RR, Hofker MH, Rensen PC. The Hyplip2 locus causes hypertriglyceridemia by decreased clearance of triglycerides. Journal of Lipid Research. 48: 2182-92. PMID 17609525 DOI: 10.1194/Jlr.M700009-Jlr200  1
2007 van de Ven RC, Kaja S, Plomp JJ, Frants RR, van den Maagdenberg AM, Ferrari MD. Genetic models of migraine. Archives of Neurology. 64: 643-6. PMID 17502463 DOI: 10.1001/Archneur.64.5.643  1
2007 Mehrotra S, Vanmolkot KR, Frants RR, van den Maagdenberg AM, Ferrari MD, MaassenVanDenBrink A. The phe-124-Cys and A-161T variants of the human 5-HT1B receptor gene are not major determinants of the clinical response to sumatriptan. Headache. 47: 711-6. PMID 17501853 DOI: 10.1111/J.1526-4610.2007.00792.X  1
2007 Vanmolkot KR, Stam AH, Raman A, Koenderink JB, de Vries B, van den Boogerd EH, van Vark J, van den Heuvel JJ, Bajaj N, Terwindt GM, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM. First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine. European Journal of Human Genetics : Ejhg. 15: 884-8. PMID 17473835 DOI: 10.1038/Sj.Ejhg.5201841  1
2007 Ricketts ML, Boekschoten MV, Kreeft AJ, Hooiveld GJ, Moen CJ, Müller M, Frants RR, Kasanmoentalib S, Post SM, Princen HM, Porter JG, Katan MB, Hofker MH, Moore DD. The cholesterol-raising factor from coffee beans, cafestol, as an agonist ligand for the farnesoid and pregnane X receptors. Molecular Endocrinology (Baltimore, Md.). 21: 1603-16. PMID 17456796 DOI: 10.1210/Me.2007-0133  1
2007 Kaja S, van de Ven RC, van Dijk JG, Verschuuren JJ, Arahata K, Frants RR, Ferrari MD, van den Maagdenberg AM, Plomp JJ. Severely impaired neuromuscular synaptic transmission causes muscle weakness in the Cacna1a-mutant mouse rolling Nagoya. The European Journal of Neuroscience. 25: 2009-20. PMID 17439489 DOI: 10.1111/J.1460-9568.2007.05438.X  1
2007 Vanmolkot KR, Babini E, de Vries B, Stam AH, Freilinger T, Terwindt GM, Norris L, Haan J, Frants RR, Ramadan NM, Ferrari MD, Pusch M, van den Maagdenberg AM, Dichgans M. The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online. Human Mutation. 28: 522. PMID 17397047 DOI: 10.1002/Humu.9486  1
2007 Kaja S, Todorov B, van de Ven RC, Ferrari MD, Frants RR, van den Maagdenberg AM, Plomp JJ. Redundancy of Cav2.1 channel accessory subunits in transmitter release at the mouse neuromuscular junction. Brain Research. 1143: 92-101. PMID 17320843 DOI: 10.1016/J.Brainres.2007.01.063  1
2007 de Snoo FA, Kroon MW, Bergman W, ter Huurne JAC, Houwing-Duistermaat JJ, van Mourik L, Snels DGCTM, Breuning MH, Willemze R, Frants RR, Gruis NA. From sporadic atypical nevi to familial melanoma: Risk analysis for melanoma in sporadic atypical nevus patients Journal of the American Academy of Dermatology. 56: 748-752. PMID 17276542 DOI: 10.1016/J.Jaad.2007.01.010  1
2007 Deak KL, Lemmers RJ, Stajich JM, Klooster R, Tawil R, Frants RR, Speer MC, van der Maarel SM, Gilbert JR. Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology. 68: 578-82. PMID 17229919 DOI: 10.1212/01.Wnl.0000254991.21818.F3  1
2007 Huang Y, Laval SH, van Remoortere A, Baudier J, Benaud C, Anderson LV, Straub V, Deelder A, Frants RR, den Dunnen JT, Bushby K, van der Maarel SM. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 21: 732-42. PMID 17185750 DOI: 10.1096/Fj.06-6628Com  1
2007 Kaja S, Ven RCGvd, Broos LAM, Frants RR, Ferrari MD, Maagdenberg AMJMvd, Plomp JJ. Characterization of acetylcholine release and the compensatory contribution of non-Cav2.1 channels at motor nerve terminals of leaner Cav2.1-mutant mice Neuroscience. 144: 1278-1287. PMID 17161543 DOI: 10.1016/J.Neuroscience.2006.11.006  1
2007 Krom YD, Pires NM, Jukema JW, de Vries MR, Frants RR, Havekes LM, van Dijk KW, Quax PH. Inhibition of neointima formation by local delivery of estrogen receptor alpha and beta specific agonists. Cardiovascular Research. 73: 217-26. PMID 17141206 DOI: 10.1016/j.cardiores.2006.10.024  1
2007 van Koningsbruggen S, Straasheijm KR, Sterrenburg E, de Graaf N, Dauwerse HG, Frants RR, van der Maarel SM. FRG1P-mediated aggregation of proteins involved in pre-mRNA processing. Chromosoma. 116: 53-64. PMID 17103222 DOI: 10.1007/s00412-006-0083-3  1
2007 van der Maarel SM, Frants RR, Padberg GW. Facioscapulohumeral muscular dystrophy. Biochimica Et Biophysica Acta. 1772: 186-94. PMID 16837171 DOI: 10.1016/j.bbadis.2006.05.009  1
2007 Henneman P, Schaap FG, Havekes LM, Rensen PC, Frants RR, van Tol A, Hattori H, Smelt AH, van Dijk KW. Plasma apoAV levels are markedly elevated in severe hypertriglyceridemia and positively correlated with the APOA5 S19W polymorphism. Atherosclerosis. 193: 129-34. PMID 16777114 DOI: 10.1016/j.atherosclerosis.2006.05.030  1
2007 Ferrari MD, Van den Maagdenberg AMJM, Frants RR, Goadsby PJ. Migraine as a Cerebral Ionopathy with Impaired Central Sensory Processing Molecular Neurology. 439-461. DOI: 10.1016/B978-012369509-3.50030-5  1
2006 Todorov B, van de Ven RC, Kaja S, Broos LA, Verbeek SJ, Plomp JJ, Ferrari MD, Frants RR, van den Maagdenberg AM. Conditional inactivation of the Cacna1a gene in transgenic mice. Genesis (New York, N.Y. : 2000). 44: 589-94. PMID 17146767 DOI: 10.1002/Dvg.20255  1
2006 Lopes LR, Peres MF, Vanmolkot KR, Tobo PR, Zukerman E, Frants RR, van den Maagdenberg AM, Moreira-Filho CA. Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families. Arquivos De Neuro-Psiquiatria. 64: 549-52. PMID 17119788  1
2006 Monraats PS, de Vries F, de Jong LW, Pons D, Sewgobind VD, Zwinderman AH, de Maat MP, 't Hart LM, Doevendans PA, de Winter RJ, Tio RA, Waltenberger J, Frants RR, van der Laarse A, van der Wall EE, et al. Inflammation and apoptosis genes and the risk of restenosis after percutaneous coronary intervention. Pharmacogenetics and Genomics. 16: 747-54. PMID 17001294 DOI: 10.1097/01.Fpc.0000220572.28585.5E  0.01
2006 Verheesen P, Roussis A, de Haard HJ, Groot AJ, Stam JC, den Dunnen JT, Frants RR, Verkleij AJ, Theo Verrips C, van der Maarel SM. Reliable and controllable antibody fragment selections from Camelid non-immune libraries for target validation. Biochimica Et Biophysica Acta. 1764: 1307-19. PMID 16872921 DOI: 10.1016/j.bbapap.2006.05.011  1
2006 De Vries B, Haan J, Frants RR, Van Den Maagdenberg AMJM, Ferrari MD. Genetic biomarkers for migraine Headache. 46: 1059-1068. PMID 16866710 DOI: 10.1111/J.1526-4610.2006.00499.X  1
2006 Vanmolkot KR, Kors EE, Turk U, Turkdogan D, Keyser A, Broos LA, Kia SK, van den Heuvel JJ, Black DF, Haan J, Frants RR, Barone V, Ferrari MD, Casari G, Koenderink JB, et al. Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine. European Journal of Human Genetics : Ejhg. 14: 555-60. PMID 16538223 DOI: 10.1038/Sj.Ejhg.5201607  1
2006 Emile Gras JC, Verkuijlen P, Frants RR, Havekes LM, van Berkel TJ, Biessen EA, van Dijk KW. Specific and efficient targeting of adenovirus vectors to macrophages: application of a fusion protein between an adenovirus-binding fragment and avidin, linked to a biotinylated oligonucleotide. The Journal of Gene Medicine. 8: 668-78. PMID 16532513 DOI: 10.1002/jgm.895  1
2006 Vanmolkot KRJ, Stroink H, Koenderink JB, Kors EE, Heuvel JJMWvd, Boogerd EHvd, Stam AH, Haan J, Vries BBAD, Terwindt GM, Frants RR, Ferrari MD, Maagdenberg AMJMvd. Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. Annals of Neurology. 59: 310-314. PMID 16437583 DOI: 10.1002/Ana.20760  1
2006 Kaja S, Van de Ven RC, Ferrari MD, Frants RR, Van den Maagdenberg AM, Plomp JJ. Compensatory contribution of Cav2.3 channels to acetylcholine release at the neuromuscular junction of tottering mice. Journal of Neurophysiology. 95: 2698-704. PMID 16381801 DOI: 10.1152/Jn.01221.2005  1
2006 Scher AI, Terwindt GM, Verschuren WM, Kruit MC, Blom HJ, Kowa H, Frants RR, van den Maagdenberg AM, van Buchem M, Ferrari MD, Launer LJ. Migraine and MTHFR C677T genotype in a population-based sample. Annals of Neurology. 59: 372-5. PMID 16365871 DOI: 10.1002/Ana.20755  1
2006 Tonini MM, Lemmers RJ, Pavanello RC, Cerqueira AM, Frants RR, van der Maarel SM, Zatz M. Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy. Human Genetics. 119: 23-8. PMID 16341710 DOI: 10.1007/s00439-005-0100-2  1
2006 Tonini MMO, Lemmers RJLF, Arashiro P, Teijlingen Cv, Lazar M, Frants RR, Maarel SMvd, Zatz M. G.P.9 07 D4Z4 repeat exchanges between chromosomes 4 and 10 in different Brazilian ethnic groups: implications for FSHD prevalence? Neuromuscular Disorders. 16: 712-713. DOI: 10.1016/J.Nmd.2006.05.221  1
2005 Monraats PS, Pires NM, Schepers A, Agema WR, Boesten LS, de Vries MR, Zwinderman AH, de Maat MP, Doevendans PA, de Winter RJ, Tio RA, Waltenberger J, 't Hart LM, Frants RR, Quax PH, et al. Tumor necrosis factor-alpha plays an important role in restenosis development. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 19: 1998-2004. PMID 16319143 DOI: 10.1096/Fj.05-4634Com  1
2005 Rana JS, Monraats PS, Zwinderman AH, de Maat MP, Kastelein JJ, Agema WR, Doevendans PA, de Winter RJ, Tio RA, Waltenberger J, Frants RR, van der Laarse A, van der Wall EE, Jukema JW. Pre-procedural levels of erythrocyte sedimentation rate (ESR) and risk of clinical restenosis in patients with percutaneous coronary intervention and coronary stent placement. Thrombosis and Haemostasis. 94: 892-4. PMID 16270652  0.01
2005 Monraats PS, Pires NM, Agema WR, Zwinderman AH, Schepers A, de Maat MP, Doevendans PA, de Winter RJ, Tio RA, Waltenberger J, Frants RR, Quax PH, van Vlijmen BJ, Atsma DE, van der Laarse A, et al. Genetic inflammatory factors predict restenosis after percutaneous coronary interventions. Circulation. 112: 2417-25. PMID 16230497 DOI: 10.1161/Circulationaha.105.536268  0.01
2005 van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, Jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM. Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. Annals of Neurology. 58: 569-76. PMID 16178028 DOI: 10.1002/Ana.20625  1
2005 Monraats PS, Rana JS, Nierman MC, Pires NM, Zwinderman AH, Kastelein JJ, Kuivenhoven JA, de Maat MP, Rittersma SZ, Schepers A, Doevendans PA, de Winter RJ, Tio RA, Frants RR, Quax PH, et al. Lipoprotein lipase gene polymorphisms and the risk of target vessel revascularization after percutaneous coronary intervention. Journal of the American College of Cardiology. 46: 1093-100. PMID 16168296 DOI: 10.1016/j.jacc.2005.05.071  0.01
2005 Stam AH, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM. Migraine: new treatment options from molecular biology. Expert Review of Neurotherapeutics. 5: 653-61. PMID 16162089 DOI: 10.1586/14737175.5.5.653  1
2005 Kreeft AJ, Moen CJA, Porter G, Kasanmoentalib S, Sverdlov R, Van Gorp PJ, Havekes LM, Frants RR, Hofker MH. Genomic analysis of the response of mouse models to high-fat feeding shows a major role of nuclear receptors in the simultaneous regulation of lipid and inflammatory genes Atherosclerosis. 182: 249-257. PMID 16159597 DOI: 10.1016/j.atherosclerosis.2005.01.049  1
2005 Kaja S, van de Ven RC, Broos LA, Veldman H, van Dijk JG, Verschuuren JJ, Frants RR, Ferrari MD, van den Maagdenberg AM, Plomp JJ. Gene dosage-dependent transmitter release changes at neuromuscular synapses of CACNA1A R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness. Neuroscience. 135: 81-95. PMID 16111830 DOI: 10.1016/J.Neuroscience.2005.04.069  1
2005 Buzhov BT, Lemmers RJ, Tournev I, van der Wielen MJ, Ishpekova B, Petkov R, Petrova J, Frants RR, Padberg GW, van der Maarel SM. Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy. Neuromuscular Disorders : Nmd. 15: 471-5. PMID 15935668 DOI: 10.1016/J.Nmd.2005.03.005  1
2005 Haan J, Kors EE, Vanmolkot KR, van den Maagdenberg AM, Frants RR, Ferrari MD. Migraine genetics: an update. Current Pain and Headache Reports. 9: 213-20. PMID 15907261 DOI: 10.1007/S11916-005-0065-9  1
2005 Callenbach PM, van den Maagdenberg AM, Frants RR, Brouwer OF. Clinical and genetic aspects of idiopathic epilepsies in childhood. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 9: 91-103. PMID 15843076 DOI: 10.1016/J.Ejpn.2004.12.005  1
2005 Huang Y, Verheesen P, Roussis A, Frankhuizen W, Ginjaar I, Haldane F, Laval S, Anderson LV, Verrips T, Frants RR, de Haard H, Bushby K, den Dunnen J, van der Maarel SM. Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display. European Journal of Human Genetics : Ejhg. 13: 721-30. PMID 15827562 DOI: 10.1038/sj.ejhg.5201414  1
2005 Rana JS, Monraats PS, Zwinderman AH, de Maat MP, Kastelein JJ, Doevendans PA, de Winter RJ, Tio RA, Frants RR, van der Laarse A, van der Wall EE, Jukema JW. Metabolic syndrome and risk of restenosis in patients undergoing percutaneous coronary intervention. Diabetes Care. 28: 873-7. PMID 15793188 DOI: 10.2337/Diacare.28.4.873  0.01
2005 Monraats PS, Rana JS, Zwinderman AH, de Maat MP, Kastelein JP, Agema WR, Doevendans PA, de Winter RJ, Tio RA, Waltenberger J, Frants RR, van der Laarse A, van der Wall EE, Jukema JW. -455G/A polymorphism and preprocedural plasma levels of fibrinogen show no association with the risk of clinical restenosis in patients with coronary stent placement. Thrombosis and Haemostasis. 93: 564-9. PMID 15735811 DOI: 10.1160/Th04-11-0708  0.01
2005 van der Maarel SM, Frants RR. The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. American Journal of Human Genetics. 76: 375-86. PMID 15674778 DOI: 10.1086/428361  1
2005 Buzhov BT, Lemmers RJ, Tournev I, Dikova C, Kremensky I, Petrova J, Frants RR, van der Maarel SM. Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments. Human Genetics. 116: 262-6. PMID 15645183 DOI: 10.1007/S00439-004-1237-0  1
2004 Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. Journal of Medical Genetics. 41: 826-36. PMID 15520407 DOI: 10.1136/Jmg.2004.019364  1
2004 Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. American Journal of Human Genetics. 75: 1124-30. PMID 15467981 DOI: 10.1086/426035  1
2004 Agema WR, Monraats PS, Zwinderman AH, De Winter RJ, Tio RA, Doevendans PA, Waltenberger J, De Maat MP, Frants RR, Atsma DE, Van Der Laarse A, Van Der Wall EE, Jukema JW. Current PTCA practice and clinical outcomes in The Netherlands: the real world in the pre-drug-eluting stent era. European Heart Journal. 25: 1163-70. PMID 15231375 DOI: 10.1016/J.Ehj.2004.05.006  0.01
2004 Lemmers RJ, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM. Somatic mosaicism in FSHD often goes undetected. Annals of Neurology. 55: 845-50. PMID 15174019 DOI: 10.1002/ana.20106  1
2004 Kors EE, Vanmolkot KR, Haan J, Frants RR, van den Maagdenberg AM, Ferrari MD. Recent findings in headache genetics. Current Opinion in Neurology. 17: 283-8. PMID 15167062 DOI: 10.1097/00019052-200406000-00008  1
2004 Lemmers RJ, Van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW, Frants RR, van der Maarel SM. Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. American Journal of Human Genetics. 75: 44-53. PMID 15154112 DOI: 10.1086/422175  1
2004 Kaunisto MA, Harno H, Vanmolkot KRJ, Gargus JJ, Sun G, Hämäläinen E, Liukkonen E, Kallela M, Maagdenberg AMJMvd, Frants RR, Färkkilä M, Palotie A, Wessman M. A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2 Neurogenetics. 5: 141-146. PMID 15133718 DOI: 10.1007/S10048-004-0178-Z  1
2004 Haan J, Kors EE, van den Maagdenberg AM, Vanmolkot KR, Terwindt GM, Frants RR, Ferrari MD. Toward a molecular genetic classification of familial hemiplegic migraine. Current Pain and Headache Reports. 8: 238-43. PMID 15115644 DOI: 10.1007/S11916-004-0058-0  1
2004 Beekman M, Posthuma D, Heijmans BT, Lakenberg N, Suchiman HE, Snieder H, de Knijff P, Frants RR, van Ommen GJ, Kluft C, Vogler GP, Slagboom PE, Boomsma DI. Combined association and linkage analysis applied to the APOE locus. Genetic Epidemiology. 26: 328-37. PMID 15095392 DOI: 10.1002/Gepi.10318  1
2004 van den Maagdenberg AM, Pietrobon D, Pizzorusso T, Kaja S, Broos LA, Cesetti T, van de Ven RC, Tottene A, van der Kaa J, Plomp JJ, Frants RR, Ferrari MD. A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression. Neuron. 41: 701-10. PMID 15003170 DOI: 10.1016/S0896-6273(04)00085-6  1
2003 van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, Bakels F, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nature Genetics. 35: 315-7. PMID 14634647 DOI: 10.1038/Ng1262  1
2003 Zuidervaart W, Velden PAvd, Hurks MH, Nieuwpoort FAv, Out-Luiting CJJ, Singh AD, Frants RR, Jager MJ, Gruis NA. Gene expression profiling identifies tumour markers potentially playing a role in uveal melanoma development. British Journal of Cancer. 89: 1914-1919. PMID 14612903 DOI: 10.1038/Sj.Bjc.6601374  1
2003 Plomp JJ, Van Den Maagdenberg AM, Ferrari MD, Frants RR, Molenaar PC. Transmitter release deficits at the neuromuscular synapse of mice with mutations in the Cav2.1 (α1A) subunit of the P/Q-type Ca2+ channel Annals of the New York Academy of Sciences. 998: 29-32. PMID 14592860 DOI: 10.1196/annals.1254.005  1
2003 Beekman M, Heijmans BT, Martin NG, Whitfield JB, Pedersen NL, DeFaire U, Snieder H, Lakenberg N, Suchiman HE, de Knijff P, Frants RR, van Ommen GJ, Kluft C, Vogler GP, Boomsma DI, et al. Evidence for a QTL on chromosome 19 influencing LDL cholesterol levels in the general population. European Journal of Human Genetics : Ejhg. 11: 845-50. PMID 14571269 DOI: 10.1038/Sj.Ejhg.5201053  1
2003 Beekman M, Heijmans BT, Martin NG, Whitfield JB, Pedersen NL, DeFaire U, Snieder H, Lakenberg N, de Knijff P, Frants RR, van Ommen GJ, Kluft C, Vogler GP, Slagboom PE, Boomsma DI. Two-locus linkage analysis applied to putative quantitative trait loci for lipoprotein(a) levels. Twin Research : the Official Journal of the International Society For Twin Studies. 6: 322-4. PMID 14511440 DOI: 10.1375/136905203322296692  1
2003 Boomsma DI, Princen HM, Frants RR, Gevers Leuven JA, Kempen HJ. Genetic analysis of indicators of cholesterol synthesis and absorption: lathosterol and phytosterols in Dutch twins and their parents. Twin Research : the Official Journal of the International Society For Twin Studies. 6: 307-14. PMID 14511438 DOI: 10.1375/136905203322296674  0.01
2003 Callenbach PM, van den Maagdenberg AM, Hottenga JJ, van den Boogerd EH, de Coo RF, Lindhout D, Frants RR, Sandkuijl LA, Brouwer OF. Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q. Epilepsia. 44: 1298-305. PMID 14510823  1
2003 Vanmolkot KR, Kors EE, Hottenga JJ, Terwindt GM, Haan J, Hoefnagels WA, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, van den Maagdenberg AM. Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Annals of Neurology. 54: 360-6. PMID 12953268 DOI: 10.1002/Ana.10674  1
2003 van der Velden PA, Zuidervaart W, Hurks MH, Pavey S, Ksander BR, Krijgsman E, Frants RR, Tensen CP, Willemze R, Jager MJ, Gruis NA. Expression profiling reveals that methylation of TIMP3 is involved in uveal melanoma development. International Journal of Cancer. 106: 472-9. PMID 12845640 DOI: 10.1002/ijc.11262  1
2003 Zhang JL, Shen DG, Zhou PK, Liu JW, Jia N, Liu H, Wang HB, Yang SX, Frants RR. [Gene diagnosis of facioscapulohumeral muscular dystrophy]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics. 20: 232-4. PMID 12778451  0.01
2003 Terwindt G, Kors E, Haan J, Vermeulen F, A VdM, Frants R, Ferrari M. Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. Headache. 43: 303-303. DOI: 10.1046/J.1526-4610.2003.03062_9.X  1
2002 van den Maagdenberg AM, Kors EE, Brunt ER, van Paesschen W, Pascual J, Ravine D, Keeling S, Vanmolkot KR, Vermeulen FL, Terwindt GM, Haan J, Frants RR, Ferrari MD. Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. Journal of Neurology. 249: 1515-9. PMID 12420090 DOI: 10.1007/S00415-002-0860-8  1
2002 Callenbach PM, Coo RFD, Vein AA, Arts WFM, Oosterwijk JC, Hageman G, Houten RT, Terwindt GM, Lindhout D, Frants RR, Brouwer OF. Benign familial infantile convulsions: a clinical study of seven Dutch families. European Journal of Paediatric Neurology. 6: 269-283. PMID 12374579 DOI: 10.1053/Ejpn.2002.0609  1
2002 Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nature Genetics. 32: 235-6. PMID 12355084 DOI: 10.1038/ng999  1
2002 Tijssen MAJ, Vergouwe MN, Dijk JGv, Rees M, Frants RR, Brown P. Major and minor form of hereditary hyperekplexia. Movement Disorders. 17: 826-830. PMID 12210885 DOI: 10.1002/Mds.10168  1
2002 Rea R, Tijssen MA, Herd C, Frants RR, Kullmann DM. Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia. The European Journal of Neuroscience. 16: 186-96. PMID 12169101 DOI: 10.1046/j.1460-9568.2002.02054.x  1
2002 Terwindt G, Kors E, Haan J, Vermeulen F, Van den Maagdenberg A, Frants R, Ferrari M. Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. Archives of Neurology. 59: 1016-8. PMID 12056940 DOI: 10.1001/Archneur.59.6.1016  1
2002 Kors EE, Van den Maagdenberg AMJM, Plomp JJ, Frants RR, Ferrari MD. Calcium channel mutations and migraine Current Opinion in Neurology. 15: 311-316. PMID 12045730 DOI: 10.1097/00019052-200206000-00014  1
2002 van Geel M, Dickson MC, Beck AF, Bolland DJ, Frants RR, van der Maarel SM, de Jong PJ, Hewitt JE. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics. 79: 210-7. PMID 11829491 DOI: 10.1006/geno.2002.6690  1
2002 van Geel M, Eichler EE, Beck AF, Shan Z, Haaf T, van der Maarel SM, Frants RR, de Jong PJ. A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes. American Journal of Human Genetics. 70: 269-78. PMID 11731935 DOI: 10.1086/338307  1
2001 Tim RW, Gilbert JR, Stajich JM, Rampersaud E, Viles KD, Tawil R, Padberg GW, Frants R, van der Maarel S, Bossen EH, Friedman AH, Pericak-Vance MA, Speer MC. Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy. Journal of Clinical Neuromuscular Disease. 3: 1-7. PMID 19078645 DOI: 10.1097/00131402-200109000-00001  1
2001 Kreeft AJ, Moen CJA, Hofker MH, Frants RR, Vreugdenhil E, Gijbels MJJ, Havekes LM, Datson NA. Identification of Differentially Regulated Genes in Mildly Hyperlipidemic ApoE3-Leiden Mice by Use of Serial Analysis of Gene Expression Arteriosclerosis, Thrombosis, and Vascular Biology. 21: 1984-1990. PMID 11742874 DOI: 10.1161/Hq1201.100265  1
2001 Leegwater PA, Vermeulen G, Könst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nature Genetics. 29: 383-8. PMID 11704758 DOI: 10.1038/ng764  1
2001 Ophoff RA, DeYoung J, Joosse M, Caffo NA, Sandkuijl LA, Terwindt GM, Haan J, Maagdenberg AMJMvd, Jen J, Baloh RW, Barilla-LaBarca M, Saccone NL, Atkinson JP, Ferrari MD, Freimer NB, ... Frants RR, et al. Hereditary Vascular Retinopathy, Cerebroretinal Vasculopathy, and Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke Map to a Single Locus on Chromosome 3p21.1-p21.3 American Journal of Human Genetics. 69: 447-453. PMID 11438888 DOI: 10.1086/321975  1
2001 Kors EE, Terwindt GM, Vermeulen FL, Fitzsimons RB, Jardine PE, Heywood P, Love S, van den Maagdenberg AM, Haan J, Frants RR, Ferrari MD. Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. Annals of Neurology. 49: 753-60. PMID 11409427 DOI: 10.1002/Ana.1031  1
2001 Beekman M, Lakenberg N, Cherny SS, de Knijff P, Kluft CC, van Ommen GJ, Vogler GP, Frants RR, Boomsma DI, Slagboom PE. A powerful and rapid approach to human genome scanning using small quantities of genomic DNA. Genetical Research. 77: 129-34. PMID 11355568 DOI: 10.1017/S001667230100492X  1
2001 Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. American Journal of Human Genetics. 68: 831-8. PMID 11254442 DOI: 10.1086/319519  1
2001 Guida S, Trettel F, Pagnutti S, Mantuano E, Tottene A, Veneziano L, Fellin T, Spadaro M, Stauderman KA, Williams ME, Volsen S, Ophoff RA, Frants RR, Jodice C, Frontali M, et al. Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. American Journal of Human Genetics. 68: 759-764. PMID 11179022 DOI: 10.1086/318804  1
2000 Vasen HFA, Gruis NA, Frants RR, Velden PAvd, Hille ETM, Bergman W. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). International Journal of Cancer. 87: 809-811. PMID 10956390 DOI: 10.1002/1097-0215(20000915)87:6<809::Aid-Ijc8>3.0.Co;2-U  1
2000 Hoffer MJV, Snieder H, Bredie SJH, Demacker PNM, Kastelein JJP, Frants RR, Stalenhoef AFH. The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia. Atherosclerosis. 151: 443-450. PMID 10924721 DOI: 10.1016/S0021-9150(99)00428-1  0.01
1999 Grewal PK, Jones A, Maconochie M, Lemmers RJF, Frants RR, Hewitt JE. Cloning of the murine unconventional myosin gene Myo9b and identification of alternative splicing. Gene. 240: 389-398. PMID 10580159 DOI: 10.1016/S0378-1119(99)00459-X  1
1999 Vergouwe MN, Tijssen MA, Peters AC, Wielaard R, Frants RR. Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. Annals of Neurology. 46: 634-8. PMID 10514101 DOI: 10.1002/1531-8249(199910)46:4<634::AID-ANA12>3.0.CO;2-9  1
1999 Van Geel M, Heather LJ, Lyle R, Hewitt JE, Frants RR, De Jong PJ. The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements Genomics. 61: 55-65. PMID 10512680 DOI: 10.1006/geno.1999.5942  1
1999 De Winther MPJ, Gijbels MJJ, Van Dijk KW, Van Gorp PJJ, Suzuki H, Kodama T, Frants RR, Havekes LM, Hofker MH. Scavenger receptor deficiency leads to more complex atherosclerotic lesions in APOE3Leiden transgenic mice Atherosclerosis. 144: 315-321. PMID 10407492 DOI: 10.1016/S0021-9150(98)00332-3  1
1999 Haan J, Terwindt GM, Maassen JA, Hart LM, Frants RR, Ferrari MD. Search for mitochondrial DNA mutations in migraine subgroups. Cephalalgia : An International Journal of Headache. 19: 20-2. PMID 10099855 DOI: 10.1111/J.1468-2982.1999.1901020.X  1
1999 Grewal PK, Geel Mv, Frants RR, Jong Pd, Hewitt JE. Recent amplification of the human FRG1 gene during primate evolution Gene. 227: 79-88. PMID 9931447 DOI: 10.1016/S0378-1119(98)00587-3  1
1999 Maarel SMvd, Deidda G, Lemmers RJLF, Bakker E, Wielen MJRvd, Sandkuijl LA, Hewitt JE, Padberg GWAM, Frants RR. A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD) Journal of Medical Genetics. 36: 823-828. DOI: 10.1136/Jmg.36.11.823  1
1999 Velden PAvd, Sandkuijl LA, Bergman W, Hille ETM, Frants RR, Gruis NA. A locus linked to p16 modifies melanoma risk in Dutch familial atypical multiple mole melanoma (FAMMM) syndrome families. Genome Research. 9: 575-580. DOI: 10.1101/Gr.9.6.575  1
1998 Terwindt G, Ophoff R, Haan J, Sandkuijl L, Frants R. Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies. Dutch Migraine Genetics Research Group. European Journal of Human Genetics. 6: 297-307. PMID 9781035 DOI: 10.1038/Sj.Ejhg.5200206  1
1998 Grewal PK, Todd LC, Maarel Svd, Frants RR, Hewitt JE. FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates Gene. 216: 13-19. PMID 9714712 DOI: 10.1016/S0378-1119(98)00334-5  1
1998 Ophoff RA, Terwindt GM, Frants RR, Ferrari MD. P/Q-type Ca2+ channel defects in migraine, ataxia and epilepsy Trends in Pharmacological Sciences. 19: 121-127. PMID 9612085 DOI: 10.1016/S0165-6147(98)01182-1  1
1998 MaassenVanDenBrink A, Vergouwe MN, Ophoff RA, Saxena PR, Ferrari MD, Frants RR. 5-HT1B receptor polymorphism and clinical response to sumatriptan. Headache. 38: 288-291. PMID 9595868 DOI: 10.1046/J.1526-4610.1998.3804288.X  1
1998 Terwindt GM, Haan J, Ophoff RA, Groenen SMA, Storimans CWJM, Lanser JBK, Roos RAC, Bleeker-Wagemakers EM, Frants RR, Ferrari MD. Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon. Brain. 121: 303-316. PMID 9549508 DOI: 10.1093/Brain/121.2.303  1
1998 Sijbrands EJG, Lombardi MP, Westendorp RGJ, Leuven JAG, Meinders AE, Laarse AVd, Frants RR, Havekes LM, Smelt AHM. Similar response to simvastatin in patients heterozygous for familial hypercholesterolemia with mRNA negative and mRNA positive mutations Atherosclerosis. 136: 247-254. PMID 9543095 DOI: 10.1016/S0021-9150(97)00216-5  1
1997 Vergouwe MN, Tijssen MAJ, Shiang R, Dijk JGv, Shahwan SA, Ophoff RA, Frants RR. Hyperekplexia-like syndromes without mutations in the GLRA1 gene Clinical Neurology and Neurosurgery. 99: 172-178. PMID 9350397 DOI: 10.1016/S0303-8467(97)00022-X  1
1997 Ophoff RA, Terwindt GM, Vergouwe MN, Frants RR, Ferrari MD. Involvement of a Ca 2+ channel gene in familial hemiplegic migraine and migraine with and without aura Headache. 37: 479-485. PMID 9329229 DOI: 10.1046/J.1526-4610.1997.3708479.X  1
1997 Terwindt GM, Haan J, Ophoff RA, Frants RR, Ferrari MD. The quest for migraine genes Current Opinion in Neurology. 10: 221-225. PMID 9229129 DOI: 10.1097/00019052-199706000-00009  1
1997 Grewal PK, Deutekom JCTv, Mills KA, Lemmers RJLF, Mathews KD, Frants RR, Hewitt JE. The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8. Mammalian Genome. 8: 394-398. PMID 9166581 DOI: 10.1007/S003359900454  1
1997 Jong MC, Ree JHv, Dahlmans VEH, Frants RR, Hofker MH, Havekes LM. Reduced very-low-density lipoprotein fractional catabolic rate in apolipoprotein C1-deficient mice Biochemical Journal. 321: 445-450. PMID 9020879 DOI: 10.1042/Bj3210445  1
1997 Tacken PJ, Zee Avd, Dijk KWv, Frants RR, Havekes LM, Hofker MH. 4.P.316 Generation of very low density lipoprotein receptor overexpressing mice Atherosclerosis. 134: 362-363. DOI: 10.1016/S0021-9150(97)89844-9  1
1997 Winther MPJd, Gijbels MJJ, Dijk KWv, Gorp PJJv, Kodama T, Frants RR, Havekes LM, Hofker MH. 1.P.80 Atherosclerosis in scavenger receptor deficient APOE3Leiden transgenic mice Atherosclerosis. 134: 33. DOI: 10.1016/S0021-9150(97)88259-7  1
1996 Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Mohrenweiser H, Litt M, Hofker MH, Haan J, Ferrari MD, Frants RR. A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group. European Journal of Human Genetics : Ejhg. 4: 321-8. PMID 9043864 DOI: 10.1159/000472226  1
1996 Sijbrands EJG, Westendorp RGJ, Hoffer MJV, Frants RR, Meinders AE, Souverijn JHM, Leuven JAG, Laarse AVd, Havekes LM, Smelt AHM. Effect of apolipoprotein E and insulin resistance on VLDL particles in combined hyperlipidemic patients Atherosclerosis. 126: 197-205. PMID 8902145 DOI: 10.1016/0021-9150(96)05901-1  1
1996 Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, ... Frants RR, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 87: 543-52. PMID 8898206 DOI: 10.1016/S0092-8674(00)81373-2  1
1996 Kremer H, Kuyt LP, van den Helm B, van Reen M, Leunissen JA, Hamel BC, Jansen C, Mariman EC, Frants RR, Padberg GW. Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family. Human Molecular Genetics. 5: 1367-71. PMID 8872479 DOI: 10.1093/Hmg/5.9.1367  1
1996 Hoffer MJV, Niththyananthan S, Naoumova RP, Kibirige MS, Frants RR, Havekes LM, Thompson GR. Apolipoprotein E1-Hammersmith (Lys146 → Asn;Arg147 → Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia Atherosclerosis. 124: 183-189. PMID 8830931 DOI: 10.1016/0021-9150(96)05819-4  1
1996 Hoffer MJV, Bredie SJH, Boomsma DI, Reymer PWA, Kastelein JJP, Knijff Pd, Demacker PNM, Stalenhoef AFH, Havekes LM, Frants RR. The lipoprotein lipase (Asn291 → Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia Atherosclerosis. 119: 159-167. PMID 8808493 DOI: 10.1016/0021-9150(95)05641-6  1
1996 Terwindt GM, Ophoff RA, Haan J, Frants RR, Ferrari MD. Familial hemiplegic migraine: A clinical comparison of families linked and unlinked to chromosome 19 Cephalalgia. 16: 153-155. PMID 8734765 DOI: 10.1046/J.1468-2982.1996.1603153.X  1
1996 Tupler R, Berardinelli A, Barbierato L, Frants R, Hewitt JE, Lanzi G, Maraschio P, Tiepolo L. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. Journal of Medical Genetics. 33: 366-370. PMID 8733044 DOI: 10.1136/Jmg.33.5.366  1
1996 Jong MC, Dahlmans VEH, Van Gorp PJJ, Breuer ML, Mol MJTM, Van der Zee A, Frants RR, Hofker MH, Havekes LM. Both lipolysis and hepatic uptake of VLDL are impaired in transgenic mice coexpressing human apolipoprotein E*3Leiden and human apolipoprotein C1 Arteriosclerosis, Thrombosis, and Vascular Biology. 16: 934-940. PMID 8696956 DOI: 10.1161/01.ATV.16.8.934  1
1996 Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nature Genetics. 13: 114-6. PMID 8673088 DOI: 10.1038/Ng0596-114  1
1995 Wielaard R, Bornebroek M, Ophoff RA, Winter-Warnars HAO, Scheltens P, Frants RR, Ferrari MD, Haan J. A four-generation Dutch family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), linked to chromosome 19p13. Clinical Neurology and Neurosurgery. 97: 307-313. PMID 8599897 DOI: 10.1016/0303-8467(95)00068-U  1
1995 Camp GV, Coucke P, Balemans W, Velzen DV, Bilt CVD, Laer LV, Smith RJH, Fukushima K, Padberg GW, Frants RR, Heyning PVD, Smith SD, Huizing EH, Willems PJ. Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15 Human Molecular Genetics. 4: 2159-2163. PMID 8589696 DOI: 10.1093/Hmg/4.11.2159  1
1995 van Ree JH, van den Broek WJAA, Dahlmans VEH, Wieringa B, Frants RR, Havekes LM, Hofker MH. Variability in cholesterol content in serum and aortic tissue in apolipoprotein E-deficient mice is comparable in inbred (129/Sv) and outbred (mixed 129/Sv and C57BL/6) mice Atherosclerosis. 118: 165-167. PMID 8579626 DOI: 10.1016/0021-9150(95)05602-S  1
1995 May A, Ophoff RA, Terwindt GM, Urban C, Eijk Rv, Haan J, Diener HC, Lindhout D, Frants RR, Sandkuijl LA, Ferrari MD. Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura. Human Genetics. 96: 604-608. PMID 8530012 DOI: 10.1007/Bf00197420  1
1995 Van Ree JH, Hofker MH, Van den Broek JAA, Van Deursen JMA, Van der Boom H, Frants RR, Wieringa B, Havekes LM. Increased response to cholesterol feeding in apolipoprotein C1-deficient mice Biochemical Journal. 305: 905-911. PMID 7848292 DOI: 10.1042/Bj3050905  1
1995 Van Ree JH, Van Den Broek WJJA, Van Der Zee A, Dahlmans VEH, Wieringa B, Frants RR, Havekes LM, Hofker MH. Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: Effects on mRNA expression levels of gene cluster members Human Molecular Genetics. 4: 1403-1409. PMID 7581381 DOI: 10.1093/Hmg/4.8.1403  1
1995 Dijk KWv, Steketee K, Havekes L, Frants R, Hofker M. Genomic and cDNA cloning of a novel mouse lipoxygenase gene Biochimica Et Biophysica Acta. 1259: 4-8. PMID 7492614 DOI: 10.1016/0005-2760(95)00158-9  0.01
1994 Hennis BC, Frants RR, Bakker E, Vossen RHAM, Van der Poort EW, Blonden LA, Cox S, Khan PM, Spurr NK, Kluft C. Evidence for the absence of intron H of the histidine-rich glycoprotein (HRG) gene: Genetic mapping and in situ localization of HRG to chromosome 3q28-q29 Genomics. 19: 195-197. PMID 8188234 DOI: 10.1006/Geno.1994.1046  1
1994 Deutekom JCTv, Bruyn RPM, Boom Nvd, Sandkuijl LA, Padberg GW, Frants RR. Pure hereditary spastic paraparesis: an exclusion map covering more than 40% of the autosomal genome. Human Genetics. 93: 408-414. PMID 8168811 DOI: 10.1007/Bf00201665  1
1994 Vlijmen BJMV, Maagdenberg AMJMVD, Gijbels MJJ, Boom HVD, Hogenesch H, Frants RR, Hofker MH, Havekes LM. Diet-induced hyperlipoproteinemia and atherosclerosis in apolipoprotein E3-Leiden transgenic mice. Journal of Clinical Investigation. 93: 1403-1410. PMID 8163645 DOI: 10.1172/Jci117117  1
1994 Zhao S, Maagdenberg AMJMVd, Vroom TFFP, Hooft FMV, Leuven JAG, Havekes LM, Frants RR, Laarse AVD, Smelt AHM. Lipoprotein Profiles in a Family with Two Mutants of Apolipoprotein E: Possible Association with Hypertriglyceridaemia but Not with Dysbetalipoproteinaemia Clinical Science. 86: 323-329. PMID 8156744 DOI: 10.1042/Cs0860323  1
1994 Brouwer OF, Padberg GW, Wijmenga C, Frants RR. Facioscapulohumeral muscular dystrophy in early childhood. Archives of Neurology. 51: 387-94. PMID 8155016 DOI: 10.1001/Archneur.1994.00540160085011  1
1994 Frijns CJ, Van Deutekom J, Frants RR, Jennekens FG. Dominant congenital benign spinal muscular atrophy. Muscle & Nerve. 17: 192-7. PMID 8114789 DOI: 10.1002/Mus.880170210  0.08
1994 Coucke P, Camp GV, Djoyodiharjo B, Smith SD, Frants RR, Padberg GW, Darby JK, Huizing EH, Cremers CWRJ, Kimberling WJ, Oostra BA, Heyning PHVD, Willems PJ. Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. The New England Journal of Medicine. 331: 425-431. PMID 8035838 DOI: 10.1056/Nejm199408183310702  1
1994 Haan J, Terwindt GM, Bos PLJM, Ophoff RA, Frants RR, Ferrari MD. Familial hemiplegic migraine in the Netherlands Clinical Neurology and Neurosurgery. 96: 244-249. PMID 7988094 DOI: 10.1016/0303-8467(94)90076-0  1
1994 Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis NA, Ding W, Hussey C, Tran T, Miki Y, Weaver-Feldhaus J, McClure M, Aitken JF, Anderson DE, Bergman W, Frants R, et al. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus Nature Genetics. 8: 22-26. PMID 7987388 DOI: 10.1038/Ng0994-22  1
1994 Hewitt JE, Lyle R, Clark LN, Valleley EM, Wright TJ, Wijmenga C, van Deutekom JC, Francis F, Sharpe PT, Hofker M. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Human Molecular Genetics. 3: 1287-95. PMID 7987304 DOI: 10.1093/Hmg/3.8.1287  1
1994 Ophoff RA, Eijk Rv, Sandkuijl LA, Terwindt GM, Grubben CPM, Haan J, Lindhout D, Ferrari MD, Frants RR. Genetic heterogeneity of familial hemiplegic migraine. Genomics. 22: 21-26. PMID 7959770 DOI: 10.1006/Geno.1994.1340  1
1994 Zhao SP, Smelt AH, Maagdenberg AMVd, Tol AV, Vroom TF, Leuven JAG, Frants RR, Havekes LM, Laarse AVd, Hooft FMV'. Plasma lipoproteins in familial dysbetalipoproteinemia associated with apolipoproteins E2(Arg158-->Cys), E3-Leiden, and E2(Lys146-->Gln), and effects of treatment with simvastatin. Arteriosclerosis, Thrombosis, and Vascular Biology. 14: 1705-1716. PMID 7947593 DOI: 10.1161/01.Atv.14.11.1705  1
1994 Cacurri S, Deidda G, Piazzo N, Novelletto A, La Cesa I, Servidei S, Galluzzi G, Wijmenga C, Frants RR, Felicetti L. Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD). Human Genetics. 94: 367-74. PMID 7927331 DOI: 10.1007/Bf00201595  1
1994 Sijbrands EJG, Westendorp RGJ, Hoffer MJV, Havekes LM, Frants RR, Meinders AE, Frölich M, Smelt AHM. Effect of insulin resistance, apoE2 allele, and smoking on combined hyperlipidemia. Arteriosclerosis, Thrombosis, and Vascular Biology. 14: 1576-1580. PMID 7918307 DOI: 10.1161/01.Atv.14.10.1576  1
1994 Wijmenga C, van Deutekom JC, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR. Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions. Genomics. 19: 21-6. PMID 7910579 DOI: 10.1006/Geno.1994.1006  1
1994 van Ree JH, van den Broek WJAA, Dahlmans VEH, Groot PHE, Vidgeon-Hart M, Frants RR, Wieringa B, Havekes LM, Hofker MH. Diet-induced hypercholesterolemia and atherosclerosis in heterozygous apolipoprotein E-deficient mice Atherosclerosis. 111: 25-37. PMID 7840811 DOI: 10.1016/0021-9150(94)90188-0  1
1994 Knijff Pd, Maagdenberg AMJMvd, Frants RR, Havekes LM. Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels Human Mutation. 4: 178-194. PMID 7833947 DOI: 10.1002/Humu.1380040303  1
1994 Hazan J, Fontaine B, Bruyn RPM, Lamy C, Deutekom JCTv, Rime C, Dürr A, Melkl J, Lyon-Caen O, Agid Y, Munnich A, Padberg GW, Recondo Jd, Frants RR, Brice A, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p Human Molecular Genetics. 3: 1569-1573. PMID 7833913 DOI: 10.1093/Hmg/3.9.1569  1
1994 Bergman W, Gruis NA, Sandkuijl LA, Frants RR. Genetics Of Seven Dutch Familial Atypical Multiple Mole-Melanoma Syndrome Families : A Review Of Linkage Results Including Chromosomes 1 And 9 Journal of Investigative Dermatology. 103. DOI: 10.1038/Jid.1994.22  1
1994 Ree JHV, Wieringa B, Frants RR, Havekes LM, Hofker MH. Molecular genetics of lipid transport in mice; involvement ofApoe-c1-c2 genes Atherosclerosis. 109: 171-172. DOI: 10.1016/0021-9150(94)93692-7  1
1993 Mulder M, Smelt AHM, Zhao SP, Frants RR, Havekes LM. Treatment of E2E2 homozygous familial dysbetalipoproteinemic subjects with gemfibrozil does not enhance the binding of their d < 1.019 lipoprotein fraction to the low-density lipoprotein receptor. Metabolism-Clinical and Experimental. 42: 327-333. PMID 8487651 DOI: 10.1016/0026-0495(93)90082-Y  1
1993 Knijff Pd, Boomsma DI, Wit Ed, Kempen HJM, Leuven JAG, Frants RR, Havekes LM. The effect of the apolipoprotein E phenotype on plasma lipids is not influenced by environmental variability: results of a Dutch twin study Human Genetics. 91: 268-272. PMID 8478009 DOI: 10.1007/Bf00218269  1
1993 Lombardi P, Mulder M, Wit Ed, Berkel TJCv, Frants RR, Havekes LM. Low-density lipoproteins are degraded in HepG2 cells with low efficiency. Biochemical Journal. 290: 509-514. PMID 8452540 DOI: 10.1042/Bj2900509  1
1993 Upadhyaya M, Jardine P, Maynard J, Farnham J, Sarfarazi M, Wijmenga C, Hewitt JE, Frants R, Harper PS, Lunt PW. Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements. Human Molecular Genetics. 2: 981-7. PMID 8364581 DOI: 10.1093/Hmg/2.7.981  1
1993 Bruyn RPM, Deutekom Jv, Frants RR, Padberg GW. Hereditary spastic paraparesis: Clinical and genetic data from a large Dutch family Clinical Neurology and Neurosurgery. 95: 125-129. PMID 8344010 DOI: 10.1016/0303-8467(93)90006-3  1
1993 Top B, Zee Avd, Havekes LM, Hooft FMv', Frants RR. Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis. Human Genetics. 91: 480-484. PMID 8314561 DOI: 10.1007/Bf00217776  1
1993 Peters DJM, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, Eijk Rv, Nørby S, Constantinou-Deltas CD, Pierides A, Briessenden JE, Frants RR, Ommen G-Bv, Breuning MH. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease Nature Genetics. 5: 359-362. PMID 8298643 DOI: 10.1038/Ng1293-359  1
1993 Hoffer MJV, Eck MMv, Havekes LM, Hofker MH, Frants RR. The mouse apolipoprotein C1 gene: structure and expression. Genomics. 18: 37-42. PMID 8276416 DOI: 10.1006/Geno.1993.1424  1
1993 Wijmenga C, Wright TJ, Baan MJ, Padberg GW, Williamson R, van Ommen GJ, Hewitt JE, Hofker MH, Frants RR. Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region. Human Molecular Genetics. 2: 1667-72. PMID 8268920 DOI: 10.1093/Hmg/2.10.1667  1
1993 Cobben JM, Scheffer H, De Visser M, Osinga J, Frants R, van der Steege G, Wijmenga C, ten Kate LP, van Ommen GJ, Buys CH. Linkage and apparent heterogeneity in proximal spinal muscular atrophies. Neuromuscular Disorders : Nmd. 3: 327-33. PMID 8268730 DOI: 10.1016/0960-8966(93)90026-G  1
1993 Wijmenga C, Frants RR, Hewitt JE, van Deutekom JC, van Geel M, Wright TJ, Padberg GW, Hofker MH, van Ommen GJ. Molecular genetics of facioscapulohumeral muscular dystrophy. Neuromuscular Disorders : Nmd. 3: 487-91. PMID 8186699  1
1993 Lombardi P, Hoffer MJV, Top B, Wit Ed, Leuven JAG, Frants RR, Havekes LM. An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, internalization defective receptor Atherosclerosis. 104: 117-128. PMID 8141835 DOI: 10.1016/0021-9150(93)90182-T  1
1993 Wijmenga C, Winokur ST, Padberg GW, Skraastad MI, Altherr MR, Wasmuth JJ, Murray JC, Hofker MH, Frants RR. The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus. Human Genetics. 92: 198-203. PMID 8103757 DOI: 10.1007/Bf00219692  1
1993 Weiffenbach B, Dubois J, Storvick D, Tawil R, Jacobsen SJ, Gilbert J, Wijmenga C, Mendell JR, Winokur S, Altherr MR, Schultz P, Olandt S, Frants RR, Pericak-Vance MA, Griggs RC. Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events Nature Genetics. 4: 165-169. PMID 8102297 DOI: 10.1038/Ng0693-165  1
1993 Brouwer OF, Wijmenga C, Frants RR, Padberg GW. Facioscapulohumeral muscular dystrophy: the impact of genetic research. Clinical Neurology and Neurosurgery. 95: 9-21. PMID 8095870 DOI: 10.1016/0303-8467(93)90086-V  1
1993 Wright TJ, Wijmenga C, Clark LN, Frants RR, Williamson R, Hewitt JE. Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. Human Molecular Genetics. 2: 1673-8. PMID 7903581 DOI: 10.1093/Hmg/2.10.1673  1
1993 Hoffer MJV, Eck MMv, Havekes LM, Hofker MH, Frants RR. Structure and expression of the mouse apolipoprotein C2 gene. Genomics. 17: 45-51. PMID 7691714 DOI: 10.1006/Geno.1993.1281  1
1993 Boomsma DI, Hennis BC, Wees AGMV, Frants RR, Kluft C. A parent-twin study of plasma levels of histidine-rich glycoprotein (HRG) Thrombosis and Haemostasis. 70: 848-851. DOI: 10.1055/S-0038-1649681  1
1992 Top B, Uitterlinden AG, Zee Avd, Kastelein JJP, Leuven JAG, Havekes LM, Frants RR. Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis. Human Genetics. 89: 561-565. PMID 1634234 DOI: 10.1007/Bf00219185  1
1992 Mulder M, Lombardi P, Jansen H, Berkel TJCv, Frants RR, Havekes LM. Heparan sulphate proteoglycans are involved in the lipoprotein lipase-mediated enhancement of the cellular binding of very low density and low density lipoproteins. Biochemical and Biophysical Research Communications. 185: 582-587. PMID 1610351 DOI: 10.1016/0006-291X(92)91664-C  1
1992 Vermeer BJ, Frants RR, Havekes LM. Familial Dysbetalipoproteinemia: A Genetically Heterogeneous Disease Caused by Mutations of the Ligand Apolipoprotein E Journal of Investigative Dermatology. 98. PMID 1588125 DOI: 10.1111/1523-1747.Ep12462212  1
1992 Wijmenga C, Deaven L, Frants RR. Dinucleotide repeat polymorphism adjacent to the ANT1 gene on 4q35. Nucleic Acids Research. 20: 1161. PMID 1549496 DOI: 10.1093/Nar/20.5.1161  1
1992 Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nature Genetics. 2: 26-30. PMID 1363881 DOI: 10.1038/Ng0992-26  1
1992 Gruis NA, Bavinck JNB, Steijlen PM, Schroeff JGVD, Haeringen AV, Happle R, Mariman E, Beersum SECV, Uitto J, Vermeer BJ, Frants RR. Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds. Journal of Investigative Dermatology. 99: 528-530. PMID 1358979 DOI: 10.1111/1523-1747.Ep12658066  1
1992 de Knijff P, de Bart AC, Frants RR, Havekes LM, Kluft C. Fibrinogen genes and peripheral arterial disease. Lancet (London, England). 340: 63. PMID 1351651 DOI: 10.1016/0140-6736(92)92485-X  1
1991 Knijff Pd, Kaptein A, Boomsma DI, Princen HMG, Frants RR, Havekes L. Apolipoprotein E polymorphism affects plasma levels of lipoprotein(a) Atherosclerosis. 90: 169-174. PMID 1836947 DOI: 10.1016/0021-9150(91)90111-F  0.01
1991 Top B, Boorn Nvd, Zee Avd, Havekes LM, Frants RR. Detection of allele-specific transcripts by the polymerase chain reaction (AST-PCR) Biochemical and Biophysical Research Communications. 178: 1319-1325. PMID 1714719 DOI: 10.1016/0006-291X(91)91038-E  1
1991 Groot PC, Mager WH, Frants RR. Interpretation of polymorphic DNA patterns in the human α-amylase multigene family Genomics. 10: 779-785. PMID 1679752 DOI: 10.1016/0888-7543(91)90463-O  1
1990 Kniiff PD, Stalenhoef AFH, Mol MJTM, Leuven JAG, Smit J, Erkelens DW, Schouten J, Frants RR, Havekes LM. Influence of apo E polymorphism on the response to simvastatin treatment in patients with heterozygous familial hypercholesterolemia Atherosclerosis. 83: 89-97. PMID 2390138 DOI: 10.1016/0021-9150(90)90134-5  1
1990 Lombardi P, Wit ED, Frants RR, Havekes LM. Characterisation of the LDL receptor in Epstein-Barr virus transformed lymphocytes. Biochimica Et Biophysica Acta. 1044: 127-132. PMID 2160281 DOI: 10.1016/0005-2760(90)90227-O  1
1990 Wijmenga C, Frants RR, Brouwer OF, van der Klift HM, Khan PM, Padberg GW. Facioscapulohumeral muscular dystrophy gene in Dutch families is not linked to markers for familial adenomatous polyposis on the long arm of chromosome 5 Journal of the Neurological Sciences. 95: 225-229. PMID 2157824 DOI: 10.1016/0022-510X(90)90245-I  1
1990 Groot PC, Mager WH, Henriquez NV, Pronk JC, Arwert F, Planta RJ, Eriksson AW, Frants RR. Evolution of the human α-amylase multigene family through unequal, homologous, and inter- and intrachromosomal crossovers Genomics. 8: 97-105. PMID 2081604 DOI: 10.1016/0888-7543(90)90230-R  1
1990 Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet (London, England). 336: 651-3. PMID 1975852 DOI: 10.1016/0140-6736(90)92148-B  1
1990 Eyk RV, Chan L, Top B, Stalenhoef AFH, Havekes LM, Frants RR. An additional MspI RFLP at the human hepatic lipase (HL) gene locus. Nucleic Acids Research. 18: 3110-3110. PMID 1693423 DOI: 10.1093/Nar/18.10.3110  1
1989 Groot PC, Bleeker MJ, Pronk JC, Arwert F, Mager WH, Planta RJ, Eriksson AW, Frants RR. The human alpha-amylase multigene family consists of haplotypes with variable numbers of genes. Genomics. 5: 29-42. PMID 2788608 DOI: 10.1016/0888-7543(89)90083-9  1
1989 Hofker MH, Nukiwa T, Paassen HMBv, Nelen M, Kramps JA, Klasen EC, Frants RR, Crystal RG. A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen. Human Genetics. 81: 264-268. PMID 2784123 DOI: 10.1007/Bf00279001  1
1989 Bebelman JP, Evers MPJ, Zelle B, Bank R, Pronk JC, Meuwissen SGM, Mager WH, Planta RJ, Eriksson AW, Frants RR. Family and population studies on the human pepsinogen A multigene family. Human Genetics. 82: 142-146. PMID 2566575 DOI: 10.1007/Bf00284047  1
1989 van Haeringen A, Bergman W, Nelen MR, van der Kooij-Meijs E, Hendrikse I, Wijnen JT, Khan PM, Klasen EC, Frants RR. Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in dutch families Genomics. 5: 61-64. PMID 2504660 DOI: 10.1016/0888-7543(89)90086-4  1
1989 Grout PC, Mager WH, Frants RR, Meisler MH, Samuelson LC. The human amylase-encoding genes amy2 and amy3 are identical to AMY2A and AMY2B Gene. 85: 567-568. PMID 2483397 DOI: 10.1016/0378-1119(89)90454-X  1
1988 Groot PC, Bleeker MJ, Pronk JC, Arwert F, Mager WH, Planta RJ, Eriksson AW, Frants RR. Human pancreatic amylase is encoded by two different genes Nucleic Acids Research. 16: 4724-4724. PMID 3260028 DOI: 10.1093/Nar/16.10.4724  1
1988 Pals G, Eriksson AW, Pronk JC, Frants RR, Klinkenberg-Knol EC, Bosma A, Westerveld BD, Taggart RT, Samloff IM, Meuwissen SGM. Differential expression of pepsinogen isozymogens in a patient with Barrett esophagus Clinical Genetics. 34: 90-97. PMID 3191614 DOI: 10.1111/j.1399-0004.1988.tb02842.x  1
1988 Pronk JC, Frants RR, Crusius B, Eriksson AW, Wolf Fd, Boucher CAB, Bakker M, Goudsmit J. No predictive value of GC phenotypes for HIV infection and progression to AIDS Human Genetics. 80: 181-182. PMID 3169742 DOI: 10.1007/Bf00702864  0.01
1988 Havekes LM, Knijff Pd, Smit M, Frants RR. The effect of apolipoprotein E allele substitutions on plasma lipid and apolipoprotein levels. Advances in Experimental Medicine and Biology. 243: 87-93. PMID 3066188 DOI: 10.1007/978-1-4613-0733-4_12  1
1988 Hofker MH, Nelen M, Klasen EC, Nukiwa T, Curiel D, Crystal RG, Frants RR. Cloning and characterization of an α1-antitrypsin like gene 12 kb downstream of the genuine α1-antitrypsin gene Biochemical and Biophysical Research Communications. 155: 634-642. PMID 2901833 DOI: 10.1016/S0006-291X(88)80542-4  1
1988 Evers MPJ, Zelle B, Bebelman JP, Pronk JC, Mager WH, Planta RJ, Eriksson AW, Frants RR. Cloning and sequencing of rhesus monkey pepsinogen A cDNA. Gene. 65: 179-185. PMID 2900796 DOI: 10.1016/0378-1119(88)90454-4  1
1986 Arwert F, Porck HJ, Fràter-Schröder M, Brahe C, Geurts van Kessel A, Westerveld A, Meera Khan P, Zang K, Frants RR, Kortbeek HT. Assignment of human transcobalamin II (TC2) to chromosome 22 using somatic cell hybrids and monosomic meningioma cells. Human Genetics. 74: 378-81. PMID 3466852 DOI: 10.1007/Bf00280489  1
1986 Festen HP, Tuynman HA, Défize J, Pals G, Frants RR, Straub JP, Meuwissen SG. Effect of single and repeated doses of oral omeprazole on gastric acid and pepsin secretion and fasting serum gastrin and serum pepsinogen I levels. Digestive Diseases and Sciences. 31: 561-6. PMID 3086061 DOI: 10.1007/BF01318685  1
1985 Défize J, Pals G, Frants RR, Westerveld BD, Festen HM, Pronk JC, Meuwissen SGM, Eriksson AW. The influence of omeprazole on the synthesis and secretion of pepsinogen in isolated rabbit gastric glands. Biochemical Pharmacology. 34: 3693-3699. PMID 2996557 DOI: 10.1016/0006-2952(85)90233-3  0.01
1985 Defize J, Arwert F, Kortbeek H, Frants RR, Meuwissen SGM, Eriksson AW. Pepsinogen synthesis in monolayer culture of human and rabbit gastric mucosal cells. Virchows Archiv B Cell Pathology Including Molecular Pathology. 49: 225-230. PMID 2865845 DOI: 10.1007/Bf02912099  0.01
1984 Pronk JC, Jansen WJ, Pronk A, Pol CFAMvd, Frants RR, Eriksson AW. Salivary protein polymorphism in Kenya: evidence for a new AMY1 allele. Human Heredity. 34: 212-216. PMID 6207099 DOI: 10.1159/000153465  0.01
1981 Saari KM, Solja J, Häkli J, Seppänen S, Tiilikainen A, Koskimies S, Eriksson A, Frants R. Genetic Background of Acute Anterior Uveitis American Journal of Ophthalmology. 91: 711-720. PMID 6972700 DOI: 10.1016/0002-9394(81)90003-9  0.01
1980 Frants RR, Eriksson AW. A New Unstable PI M Variant of a1-Antitrypsin in a Finnish Isolate Human Heredity. 30: 333-342. PMID 6971248 DOI: 10.1159/000153154  0.01
1980 Carter CL, Chung CS, Walter H, Veerraju P, Hilling M, Panich V, Bumrungtrakul P, Jitjai C, Kamolmatayakul S, Khoprasert B, Klaisuvan C, Kongmuang U, Maneechai P, Pornpatkul M, Ruengrairatanaroje P, ... ... Frants RR, et al. Subject Index, Vol. 30, 1980 Human Heredity. 30: 389-391. DOI: 10.1159/000153166  0.01
1980 Carter CL, Chung CS, Walter H, Veerraju P, Hilling M, Panich V, Bumrungtrakul P, Jitjai C, Kamolmatayakul S, Khoprasert B, Klaisuvan C, Kongmuang U, Maneechai P, Pornpatkul M, Ruengrairatanaroje P, ... ... Frants RR, et al. Contents, Vol. 30, 1980 Human Heredity. 30. DOI: 10.1159/000153153  0.01
1979 Joenje H, Frants RR, Arwert F, de Bruin GJ, Kostense PJ, van de Kamp JJ, de Koning J, Eriksson AW. Erythrocyte superoxide dismutase deficiency in Fanconi's anaemia established by two independent methods of assay. Scandinavian Journal of Clinical and Laboratory Investigation. 39: 759-64. PMID 394299 DOI: 10.1080/00365517909108168  1
1978 Joenje H, Eriksson AW, Frants RR, Arwert F, Houwen B. Erythrocyte superoxide-dismutase deficiency in Fanconi's anaemia. The Lancet. 311: 204-204. PMID 74622 DOI: 10.1016/S0140-6736(78)90632-3  0.01
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