Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 390

1.

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.

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 MLC, de Jong PTVM, de Smet MD, de Wolff-Rouendaal D, Dijkman G, Pelzer N, Kolar GR, Schmidt RE, Lacey J, Joseph D, Fintak DR, Grand MG, Brunt EM, Liapis H, Hajj-Ali RA, Kruit MC, van Buchem MA, Dichgans M, Frants RR, van den Maagdenberg AMJM, Haan J, Baloh RW, Atkinson JP, Terwindt GM, Ferrari MD.

Brain. 2016 Nov 1;139(11):2909-2922. doi: 10.1093/brain/aww217. No abstract available.

2.

Early-onset facioscapulohumeral muscular dystrophy type 1 with some atypical features.

Dorobek M, van der Maarel SM, Lemmers RJ, Ryniewicz B, Kabzińska D, Frants RR, Gawel M, Walecki J, Hausmanowa-Petrusewicz I.

J Child Neurol. 2015 Apr;30(5):580-7. doi: 10.1177/0883073814528281. Epub 2014 Apr 9.

PMID:
24717985
3.

RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice.

de Vries B, Eising E, Broos LA, Koelewijn SC, Todorov B, Frants RR, Boer JM, Ferrari MD, Hoen PA, van den Maagdenberg AM.

Cephalalgia. 2014 Mar;34(3):174-82. doi: 10.1177/0333102413502736. Epub 2013 Aug 28.

PMID:
23985897
4.

Genome-wide meta-analysis identifies new susceptibility loci for migraine.

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, Ikram MA, Lehtimäki T, Stam AH, Ligthart L, Wedenoja J, Dunham I, Neale BM, Palta P, Hamalainen E, Schürks M, Rose LM, Buring JE, Ridker PM, Steinberg S, Stefansson H, Jakobsson F, Lawlor DA, Evans DM, Ring SM, Färkkilä M, Artto V, Kaunisto MA, Freilinger T, Schoenen J, Frants RR, Pelzer N, Weller CM, Zielman R, Heath AC, Madden PAF, Montgomery GW, Martin NG, Borck G, Göbel H, Heinze A, Heinze-Kuhn K, Williams FMK, Hartikainen AL, Pouta A, van den Ende J, Uitterlinden AG, Hofman A, Amin N, Hottenga JJ, Vink JM, Heikkilä K, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann HE, Aromaa A, Eriksson JG, Traynor B, Trabzuni D; North American Brain Expression Consortium; UK Brain Expression Consortium, Rossin E, Lage K, Jacobs SBR, Gibbs JR, Birney E, Kaprio J, Penninx BW, Boomsma DI, van Duijn C, Raitakari O, Jarvelin MR, Zwart JA, Cherkas L, Strachan DP, Kubisch C, Ferrari MD, van den Maagdenberg AMJM, Dichgans M, Wessman M, Smith GD, Stefansson K, Daly MJ, Nyholt DR, Chasman D, Palotie A.

Nat Genet. 2013 Aug;45(8):912-917. doi: 10.1038/ng.2676. Epub 2013 Jun 23.

5.

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.

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, Tapscott SJ, van der Maarel SM.

PLoS Genet. 2013 Apr;9(4):e1003415. doi: 10.1371/journal.pgen.1003415. Epub 2013 Apr 4.

6.

Dysferlin regulates cell adhesion in human monocytes.

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.

J Biol Chem. 2013 May 17;288(20):14147-57. doi: 10.1074/jbc.M112.448589. Epub 2013 Apr 4.

7.

Migraine is not associated with enhanced atherosclerosis.

Stam AH, Weller CM, Janssens AC, Aulchenko YS, Oostra BA, Frants RR, van den Maagdenberg AM, Ferrari MD, van Duijn CM, Terwindt GM.

Cephalalgia. 2013 Mar;33(4):228-35. doi: 10.1177/0333102412466966. Epub 2012 Nov 12.

PMID:
23147163
8.

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

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, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.

Nat Genet. 2012 Dec;44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11.

9.

Genome-wide association analysis identifies susceptibility loci for migraine without aura.

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, Kaunisto MA, Schoenen J, Raitakari O, Lehtimäki T, Vila-Pueyo M, Göbel H, Wichmann E, Sintas C, Uitterlinden AG, Hofman A, Rivadeneira F, Heinze A, Tronvik E, van Duijn CM, Kaprio J, Cormand B, Wessman M, Frants RR, Meitinger T, Müller-Myhsok B, Zwart JA, Färkkilä M, Macaya A, Ferrari MD, Kubisch C, Palotie A, Dichgans M, van den Maagdenberg AM; International Headache Genetics Consortium.

Nat Genet. 2012 Jun 10;44(7):777-82. doi: 10.1038/ng.2307.

10.

Self-regulated alternative splicing at the AHNAK locus.

de Morrée A, Droog M, Grand Moursel L, Bisschop IJ, Impagliazzo A, Frants RR, Klooster R, van der Maarel SM.

FASEB J. 2012 Jan;26(1):93-103. doi: 10.1096/fj.11-187971. Epub 2011 Sep 22.

PMID:
21940993
11.

Purkinje cell-specific ablation of Cav2.1 channels is sufficient to cause cerebellar ataxia in mice.

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.

Cerebellum. 2012 Mar;11(1):246-58. doi: 10.1007/s12311-011-0302-1.

12.

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

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, Smeets DFCM, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJD, van den Elsen PJ, Weemaes CM, van der Maarel SM.

Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018. Epub 2011 May 19.

13.

Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity.

de Morrée A, Hensbergen PJ, van Haagen HH, Dragan I, Deelder AM, 't Hoen PA, Frants RR, van der Maarel SM.

PLoS One. 2010 Nov 5;5(11):e13854. doi: 10.1371/journal.pone.0013854.

14.

Clinical features of facioscapulohumeral muscular dystrophy 2.

de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R.

Neurology. 2010 Oct 26;75(17):1548-54. doi: 10.1212/WNL.0b013e3181f96175.

15.

A long-term follow-up study of 18 patients with sporadic hemiplegic migraine.

Stam AH, Louter MA, Haan J, de Vries B, van den Maagdenberg AM, Frants RR, Ferrari MD, Terwindt GM.

Cephalalgia. 2011 Jan;31(2):199-205. doi: 10.1177/0333102410375629. Epub 2010 Jul 2.

PMID:
20974584
16.

Genetics of headaches.

Van Den Maagdenberg AM, Terwindt GM, Haan J, Frants RR, Ferrari MD.

Handb Clin Neurol. 2010;97:85-97. doi: 10.1016/S0072-9752(10)97006-1.

PMID:
20816412
17.

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

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, de Vries B, Stam AH, Weller CM, Heinze A, Heinze-Kuhn K, Goebel I, Borck G, Göbel H, Steinberg S, Wolf C, Björnsson A, Gudmundsson G, Kirchmann M, Hauge A, Werge T, Schoenen J, Eriksson JG, Hagen K, Stovner L, Wichmann HE, Meitinger T, Alexander M, Moebus S, Schreiber S, Aulchenko YS, Breteler MM, Uitterlinden AG, Hofman A, van Duijn CM, Tikka-Kleemola P, Vepsäläinen S, Lucae S, Tozzi F, Muglia P, Barrett J, Kaprio J, Färkkilä M, Peltonen L, Stefansson K, Zwart JA, Ferrari MD, Olesen J, Daly M, Wessman M, van den Maagdenberg AM, Dichgans M, Kubisch C, Dermitzakis ET, Frants RR, Palotie A; International Headache Genetics Consortium.

Nat Genet. 2010 Oct;42(10):869-73. doi: 10.1038/ng.652. Epub 2010 Aug 29.

18.

A unifying genetic model for facioscapulohumeral muscular dystrophy.

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.

Science. 2010 Sep 24;329(5999):1650-3. doi: 10.1126/science.1189044. Epub 2010 Aug 19.

19.

Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.

de Morrée A, Lutje Hulsik D, Impagliazzo A, van Haagen HH, de Galan P, van Remoortere A, 't Hoen PA, van Ommen GB, Frants RR, van der Maarel SM.

PLoS One. 2010 Aug 4;5(8):e11940. doi: 10.1371/journal.pone.0011940.

20.

Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice.

Kaja S, Van de Ven RC, Broos LA, Frants RR, Ferrari MD, Van den Maagdenberg AM, Plomp JJ.

J Neurophysiol. 2010 Sep;104(3):1445-55. doi: 10.1152/jn.00012.2010. Epub 2010 Jul 14.

Supplemental Content

Loading ...
Support Center