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Items: 16

1.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

Florian RT, Kraft F, Leitão E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kühnel T, Schröder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B; FAME consortium, LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C.

Nat Commun. 2019 Oct 29;10(1):4919. doi: 10.1038/s41467-019-12763-9.

2.

Metabolomics Profile in Depression: A Pooled Analysis of 230 Metabolic Markers in 5283 Cases With Depression and 10,145 Controls.

Bot M, Milaneschi Y, Al-Shehri T, Amin N, Garmaeva S, Onderwater GLJ, Pool R, Thesing CS, Vijfhuizen LS, Vogelzangs N, Arts ICW, Demirkan A, van Duijn C, van Greevenbroek M, van der Kallen CJH, Köhler S, Ligthart L, van den Maagdenberg AMJM, Mook-Kanamori DO, de Mutsert R, Tiemeier H, Schram MT, Stehouwer CDA, Terwindt GM, Willems van Dijk K, Fu J, Zhernakova A, Beekman M, Slagboom PE, Boomsma DI, Penninx BWJH; BBMRI-NL Metabolomics Consortium.

Biol Psychiatry. 2020 Mar 1;87(5):409-418. doi: 10.1016/j.biopsych.2019.08.016. Epub 2019 Aug 29.

PMID:
31635762
3.

Search for Early Pancreatic Cancer Blood Biomarkers in Five European Prospective Population Biobanks Using Metabolomics.

Fest J, Vijfhuizen LS, Goeman JJ, Veth O, Joensuu A, Perola M, Männistö S, Ness-Jensen E, Hveem K, Haller T, Tonisson N, Mikkel K, Metspalu A, van Duijn CM, Ikram A, Stricker BH, Ruiter R, van Eijck CHJ, van Ommen GB, ʼt Hoen PAC.

Endocrinology. 2019 Jul 1;160(7):1731-1742. doi: 10.1210/en.2019-00165.

4.

Large-scale plasma metabolome analysis reveals alterations in HDL metabolism in migraine.

Onderwater GLJ, Ligthart L, Bot M, Demirkan A, Fu J, van der Kallen CJH, Vijfhuizen LS, Pool R, Liu J, Vanmolkot FHM, Beekman M, Wen KX, Amin N, Thesing CS, Pijpers JA, Kies DA, Zielman R, de Boer I, van Greevenbroek MMJ, Arts ICW, Milaneschi Y, Schram MT, Dagnelie PC, Franke L, Ikram MA, Ferrari MD, Goeman JJ, Slagboom PE, Wijmenga C, Stehouwer CDA, Boomsma DI, van Duijn CM, Penninx BW, 't Hoen PAC, Terwindt GM, van den Maagdenberg AMJM; BBMRI Metabolomics Consortium.

Neurology. 2019 Apr 16;92(16):e1899-e1911. doi: 10.1212/WNL.0000000000007313. Epub 2019 Apr 3.

5.

Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation.

Pelzer N, Haan J, Stam AH, Vijfhuizen LS, Koelewijn SC, Smagge A, de Vries B, Ferrari MD, van den Maagdenberg AMJM, Terwindt GM.

Neurology. 2018 Feb 13;90(7):e575-e582. doi: 10.1212/WNL.0000000000004966. Epub 2018 Jan 17.

PMID:
29343472
6.

δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy.

van Rootselaar AF, Groffen AJ, de Vries B, Callenbach PMC, Santen GWE, Koelewijn S, Vijfhuizen LS, Buijink A, Tijssen MAJ, van den Maagdenberg AMJM.

Neurology. 2017 Dec 5;89(23):2341-2350. doi: 10.1212/WNL.0000000000004709. Epub 2017 Nov 10.

PMID:
29127138
7.

Identifying a gene expression signature of cluster headache in blood.

Eising E, Pelzer N, Vijfhuizen LS, Vries B, Ferrari MD, 't Hoen PA, Terwindt GM, van den Maagdenberg AM.

Sci Rep. 2017 Jan 11;7:40218. doi: 10.1038/srep40218.

8.

Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation.

Pelzer N, Blom DE, Stam AH, Vijfhuizen LS, Hageman A, van Vliet JA, Ferrari MD, van den Maagdenberg A, Haan J, Terwindt GM.

Cephalalgia. 2017 Jul;37(8):737-755. doi: 10.1177/0333102416651284. Epub 2016 May 24.

PMID:
27226003
9.

Cortical Spreading Depression Causes Unique Dysregulation of Inflammatory Pathways in a Transgenic Mouse Model of Migraine.

Eising E, Shyti R, 't Hoen PAC, Vijfhuizen LS, Huisman SMH, Broos LAM, Mahfouz A, Reinders MJT, Ferrari MD, Tolner EA, de Vries B, van den Maagdenberg AMJM.

Mol Neurobiol. 2017 May;54(4):2986-2996. doi: 10.1007/s12035-015-9681-5. Epub 2016 Mar 31.

10.

Gene co-expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS-based study using the Allen Human Brain Atlas.

Eising E, Huisman SMH, Mahfouz A, Vijfhuizen LS, Anttila V, Winsvold BS, Kurth T, Ikram MA, Freilinger T, Kaprio J, Boomsma DI, van Duijn CM, Järvelin MR, Zwart JA, Quaye L, Strachan DP, Kubisch C, Dichgans M, Davey Smith G, Stefansson K, Palotie A, Chasman DI, Ferrari MD, Terwindt GM, de Vries B, Nyholt DR, Lelieveldt BPF, van den Maagdenberg AMJM, Reinders MJT.

Hum Genet. 2016 Apr;135(4):425-439. doi: 10.1007/s00439-016-1638-x. Epub 2016 Feb 22.

11.

Gene-based pleiotropy across migraine with aura and migraine without aura patient groups.

Zhao H, Eising E, de Vries B, Vijfhuizen LS; International Headache Genetics Consortium, Anttila V, Winsvold BS, Kurth T, Stefansson H, Kallela M, Malik R, Stam AH, Ikram MA, Ligthart L, Freilinger T, Alexander M, Müller-Myhsok B, Schreiber S, Meitinger T, Aromas A, Eriksson JG, Boomsma DI, van Duijn CM, Zwart JA, Quaye L, Kubisch C, Dichgans M, Wessman M, Stefansson K, Chasman DI, Palotie A, Martin NG, Montgomery GW, Ferrari MD, Terwindt GM, van den Maagdenberg AM, Nyholt DR.

Cephalalgia. 2016 Jun;36(7):648-57. doi: 10.1177/0333102415591497. Epub 2015 Dec 8.

12.

Gene-expression and in vitro function of mesenchymal stromal cells are affected in juvenile myelomonocytic leukemia.

Calkoen FG, Vervat C, Eising E, Vijfhuizen LS, 't Hoen PB, van den Heuvel-Eibrink MM, Egeler RM, van Tol MJ, Ball LM.

Haematologica. 2015 Nov;100(11):1434-41. doi: 10.3324/haematol.2015.126938. Epub 2015 Aug 20.

13.

Despite differential gene expression profiles pediatric MDS derived mesenchymal stromal cells display functionality in vitro.

Calkoen FG, Vervat C, van Pel M, de Haas V, Vijfhuizen LS, Eising E, Kroes WG, 't Hoen PA, van den Heuvel-Eibrink MM, Egeler RM, van Tol MJ, Ball LM.

Stem Cell Res. 2015 Mar;14(2):198-210. doi: 10.1016/j.scr.2015.01.006. Epub 2015 Jan 28.

14.

Systematic re-evaluation of genes from candidate gene association studies in migraine using a large genome-wide association data set.

de Vries B, Anttila V, Freilinger T, Wessman M, Kaunisto MA, Kallela M, Artto V, Vijfhuizen LS, Göbel H, Dichgans M, Kubisch C, Ferrari MD, Palotie A, Terwindt GM, van den Maagdenberg AM; International Headache Genetics Consortium.

Cephalalgia. 2016 Jun;36(7):604-14. doi: 10.1177/0333102414566820. Epub 2015 Jan 29.

PMID:
25633374
15.

Cluster headache and the hypocretin receptor 2 reconsidered: a genetic association study and meta-analysis.

Weller CM, Wilbrink LA, Houwing-Duistermaat JJ, Koelewijn SC, Vijfhuizen LS, Haan J, Ferrari MD, Terwindt GM, van den Maagdenberg AM, de Vries B.

Cephalalgia. 2015 Aug;35(9):741-7. doi: 10.1177/0333102414557839. Epub 2014 Nov 14.

PMID:
25398231
16.

PRRT2 and hemiplegic migraine: a complex association.

Pelzer N, de Vries B, Kamphorst JT, Vijfhuizen LS, Ferrari MD, Haan J, van den Maagdenberg AM, Terwindt GM.

Neurology. 2014 Jul 15;83(3):288-90. doi: 10.1212/WNL.0000000000000590. Epub 2014 Jun 13. No abstract available.

PMID:
24928127

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