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Areas of investigation/research focus

Publications

Failure to Validate Associations Between Variants on 12p13 and Ischemic Stroke.

The International Stroke Genetics Consortium and the Wellcome Trust Case-Control Consortium 2, N Engl J Med. 2010 Apr 22;362(16):1547-50.

Verbal Memory Impairment in Subcortical Ischemic Vascular Disease: A descriptive Analysis in CADASIL.

Epelbaum S, Benisty S, Reyes S, O’Sullivan M, Jouvent E, Düring M, Opherk C, Hernandez K, Kurtz A, Viswanathan A, Bousser MG, Dichgans M, Chabriat HC, Neurobiol Aging. 2010 Feb 9. [Epub ahead of print]

Genome-wide associaton study identifies variants at CLU and PICALM associated with Alzheimer’s disease.

Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere M, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, van der Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JSK, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Dayn P, von Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O’Donovan M, Owen MJ & Williams J, Nat Genet 2009;41(10):1088-93

A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke.

Gudbjartsson DF, Holm H, Gretarsdottir S, Thorleifsson G, Walters GB, Thorgeirsson G, Gulcher J, Mathiesen EB, NjølstadI, Nyrnes A, Wilsgaard T, Hald EM, Hveem K, Stoltenberg C, Kucera G, Stubblefield T, Carter S, Roden D, Ng MCY, Baum L, So WY, Wong KS, Chan JCN, Gieger C, Wichmann HE, Gschwendtner A, Dichgans M, Kuhlenbäumer G, Berger K, Ringelstein EB, Bevan S, Markus HS, Kostulas K, Hillert J, Sveinbjörnsdóttir S, Valdimarsson EM, Løchen ML, Ma RCW, Darbar D, Kong A, Arnar DO, Thorsteinsdottir U & Stefansson K, Nat Genet 2009;41(8):876-8

Variant in the sequence of the LINGO1 confers risk of essential tremor.

Stefansson H, Steinberg S, Petursson H, Gustafsson O, Jonsdottir GA, Palsson ST, Jonsson T, Saemundsdottir J, Bjornsdottir G, Böttcher Y, Thorlacius T, Haubenberger D,Zimprich A, Auff E, Hotzy C, Testa CM, Miyatake LA, Rosen AR, Asmus F, Schöls L, Dichgans M, Jakobsson F, Benedikz J, Thorsteinsdottir U, Gulcher G, Kong A, Stefansson K, Nat Genet 2009;41(4):504

CADASIL

Chabriat* HC, Joutel A*, Dichgans M*. Tournier-Lasserve E, Bousser MG, Lancet Neurol (joint co-authors) 2009;8(7):643-53

CADASIL Mutations Enhance Spontaneous Multimerization of Notch3

Opherk C, Düring M, Peters N, Karpinska A, Rosner S, Schneider E, Badr B, Giese A, Dichgans M, Hum Mol Genet 2009; 18(15):2761-7

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain.

Monet-Leprêtre M, Bardot B, Lemaire B, Domenga V, Godin O, Dichgans M, Tournier-Lasserve E, Cohen-Tannoudji M, Chabriat H, Joutel A, Brain 2009;132(Pt 6):1601-12

Sequence Variants on Chromosome 9p21.3 confer Risk of Atherosclerotic Stroke.

Gschwendtner A, Bevan S, Cole, JW, Plourde A, Matarin M, Ross-Adams H, Meitinger T, Wichman E, Mitchell BD, Furie K, Slowik A, Rich SS, Syme PD, MacLeod MJ, Meschia JF, Rosand J, Kittner SJ, Markus HS, Müller-Myhsok B, Dichgans M, on behalf of the International Stroke Genetics Consortium, Ann Neurol 2009;65(5):531-9

Hippocampal volume is an independent predictor of cognitive performance in CADASIL.

O’Sullivan M, Ngo E, Viswanathan A, Jouvent E, Gschwendtner A, Saemann P, Duering M, Pachai C, Bousser MG, Chabriat HC, Dichgans M, Neurobiol Aging 2009;30(6):890-97

Donepezil in Patients with Subcortical Vascular Cognitive Impairment: a randomised double-blind trial in CADASIL

Dichgans M, Markus HS, Salloway S, Verkkoniemi A, Moline M, Wang Q, Posner H, Chabriat H, Lancet Neurol 2008;7(4):310-8

Heritability of MRI lesion volume in CADASIL: evidence for genetic modifiers.

Opherk C, Peters N, Holtmannspötter M, Gschwendtner A, Müller-Myhsok B, Dichgans M, Stroke 2006;37(11):2684-2689

Genetics of Ischaemic Stroke.

Dichgans M, Lancet Neurol  2007;6(2):149-161

Truncations in the Carboxyl-terminus of Human 3'-5' DNA Exonuclease TREX1 Cause Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy.

Richards A, van den Maagdenberg A, Jen J, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-LaBarca M-L, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KRJ, de Vries B, Wan J, Kane MJ, Mamsa H, Schafer R, Stam AH, Haan J, de Jong TVM, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RB, Ferrari MD, Atkinson JP, Nat Genet 2007;39(9):1068-1070

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

Dichgans M*, Freilinger F*, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari M, Herzog J, van den Maagdenberg AMJM, Pusch M,  Strom TM, Lancet 2005;366:371-377

The pattern of cognitive performance in CADASIL: A monogenic condition leading to subcortical ischemic vascular dementia.

Peters N, Opherk C, Danek A, Ballard C, Herzog J, Dichgans M, Am J Psychiatry 2005;162:2078-2085

Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients.

Opherk C, Peters N, Herzog J, Luedtke R, Dichgans M,  Brain 2004;127:2533-2539

The phenotypic spectrum of CADASIL: clinical findings in 102 cases.

Dichgans M, Mayer M, Uttner I, Brüning R, Müller-Höcker J, Rungger G, Ebke M, Klockgether T, Gasser T, Ann Neurol 1998;44:731-739