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Best matches for Kuhlenbäumer G:

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia. Shalash AS et al. Neurol Genet. (2017)

Gut microbiota in Parkinson disease in a northern German cohort. Hopfner F et al. Brain Res. (2017)

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. EuroEPINOMICS-RES Consortium. et al. Am J Hum Genet. (2014)

Search results

Items: 1 to 20 of 124

1.

Parkinson disease genetics: too early to predict progression?

Kuhlenbäumer G, Berg D.

Nat Rev Neurol. 2019 Nov;15(11):625-626. doi: 10.1038/s41582-019-0264-3. No abstract available.

PMID:
31534210
2.

Use of β2-adrenoreceptor agonist and antagonist drugs and risk of Parkinson disease.

Hopfner F, Wod M, Höglinger GU, Blaabjerg M, Rösler TW, Kuhlenbäumer G, Christensen K, Deuschl G, Pottegård A.

Neurology. 2019 Jul 9;93(2):e135-e142. doi: 10.1212/WNL.0000000000007694. Epub 2019 May 24.

PMID:
31127070
3.

No association between Parkinson disease and autoantibodies against NMDA-type glutamate receptors.

Hopfner F, Müller SH, Steppat D, Miller J, Schmidt N, Wandinger KP, Leypoldt F, Berg D, Franke A, Lieb W, Tittmann L, Balzer-Geldsetzer M, Baudrexel S, Dodel R, Hilker-Roggendorf R, Kalbe E, Kassubek J, Klockgether T, Liepelt-Scarfone I, Mollenhauer B, Neuser P, Reetz K, Riedel O, Schulte C, Schulz JB, Spottke A, Storch A, Trenkwalder C, Wittchen HU, Witt K, Wüllner U, Deuschl G, Kuhlenbäumer G.

Transl Neurodegener. 2019 Apr 3;8:11. doi: 10.1186/s40035-019-0153-0. eCollection 2019.

4.

Role of ANO3 mutations in dystonia: A large-scale mutational screening study.

Olschewski L, Jesús S, Kim HJ, Tunc S, Löns S, Junker J, Zeuner KE, Kühn AA, Kuhlenbäumer G, Schäffer E, Berg D, Kasten M, Ferbert A, Altenmüller E, Brüggemann N, Bauer P, Rolfs A, Jeon B, Bäumer T, Mir P, Klein C, Lohmann K.

Parkinsonism Relat Disord. 2019 May;62:196-200. doi: 10.1016/j.parkreldis.2018.12.030. Epub 2019 Jan 2.

PMID:
30712998
5.

Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting.

Chauhan G, Adams HHH, Satizabal CL, Bis JC, Teumer A, Sargurupremraj M, Hofer E, Trompet S, Hilal S, Smith AV, Jian X, Malik R, Traylor M, Pulit SL, Amouyel P, Mazoyer B, Zhu YC, Kaffashian S, Schilling S, Beecham GW, Montine TJ, Schellenberg GD, Kjartansson O, Guðnason V, Knopman DS, Griswold ME, Windham BG, Gottesman RF, Mosley TH, Schmidt R, Saba Y, Schmidt H, Takeuchi F, Yamaguchi S, Nabika T, Kato N, Rajan KB, Aggarwal NT, De Jager PL, Evans DA, Psaty BM, Rotter JI, Rice K, Lopez OL, Liao J, Chen C, Cheng CY, Wong TY, Ikram MK, van der Lee SJ, Amin N, Chouraki V, DeStefano AL, Aparicio HJ, Romero JR, Maillard P, DeCarli C, Wardlaw JM, Hernández MDCV, Luciano M, Liewald D, Deary IJ, Starr JM, Bastin ME, Muñoz Maniega S, Slagboom PE, Beekman M, Deelen J, Uh HW, Lemmens R, Brodaty H, Wright MJ, Ames D, Boncoraglio GB, Hopewell JC, Beecham AH, Blanton SH, Wright CB, Sacco RL, Wen W, Thalamuthu A, Armstrong NJ, Chong E, Schofield PR, Kwok JB, van der Grond J, Stott DJ, Ford I, Jukema JW, Vernooij MW, Hofman A, Uitterlinden AG, van der Lugt A, Wittfeld K, Grabe HJ, Hosten N, von Sarnowski B, Völker U, Levi C, Jimenez-Conde J, Sharma P, Sudlow CLM, Rosand J, Woo D, Cole JW, Meschia JF, Slowik A, Thijs V, Lindgren A, Melander O, Grewal RP, Rundek T, Rexrode K, Rothwell PM, Arnett DK, Jern C, Johnson JA, Benavente OR, Wasssertheil-Smoller S, Lee JM, Wong Q, Mitchell BD, Rich SS, McArdle PF, Geerlings MI, van der Graaf Y, de Bakker PIW, Asselbergs FW, Srikanth V, Thomson R, McWhirter R, Moran C, Callisaya M, Phan T, Rutten-Jacobs LCA, Bevan S, Tzourio C, Mather KA, Sachdev PS, van Duijn CM, Worrall BB, Dichgans M, Kittner SJ, Markus HS, Ikram MA, Fornage M, Launer LJ, Seshadri S, Longstreth WT Jr, Debette S; Stroke Genetics Network (SiGN), the International Stroke Genetics Consortium (ISGC), METASTROKE, Alzheimer's Disease Genetics Consortium (ADGC), and the Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.

Neurology. 2019 Jan 16. pii: 10.1212/WNL.0000000000006851. doi: 10.1212/WNL.0000000000006851. [Epub ahead of print]

6.

K-variant BCHE and pesticide exposure: Gene-environment interactions in a case-control study of Parkinson's disease in Egypt.

Rösler TW, Salama M, Shalash AS, Khedr EM, El-Tantawy A, Fawi G, El-Motayam A, El-Seidy E, El-Sherif M, El-Gamal M, Moharram M, El-Kattan M, Abdel-Naby M, Ashour S, Müller U, Dempfle A, Kuhlenbäumer G, Höglinger GU.

Sci Rep. 2018 Nov 8;8(1):16525. doi: 10.1038/s41598-018-35003-4.

7.

Genetic predisposition in anti-LGI1 and anti-NMDA receptor encephalitis.

Mueller SH, Färber A, Prüss H, Melzer N, Golombeck KS, Kümpfel T, Thaler F, Elisak M, Lewerenz J, Kaufmann M, Sühs KW, Ringelstein M, Kellinghaus C, Bien CG, Kraft A, Zettl UK, Ehrlich S, Handreka R, Rostásy K, Then Bergh F, Faiss JH, Lieb W, Franke A, Kuhlenbäumer G, Wandinger KP, Leypoldt F; German Network for Research on Autoimmune Encephalitis (GENERATE).

Ann Neurol. 2018 Apr;83(4):863-869. doi: 10.1002/ana.25216.

PMID:
29572931
8.

[Genetics of tremor].

Kuhlenbäumer G, Hopfner F.

Nervenarzt. 2018 Apr;89(4):416-422. doi: 10.1007/s00115-017-0478-9. Review. German.

PMID:
29327099
9.

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia.

Shalash AS, Rösler TW, Müller SH, Salama M, Deuschl G, Müller U, Opladen T, Petersen BS, Franke A, Hopfner F, Kuhlenbäumer G, Höglinger GU.

Neurol Genet. 2017 Nov 1;3(6):e197. doi: 10.1212/NXG.0000000000000197. eCollection 2017 Dec.

10.

Gut microbiota in Parkinson disease in a northern German cohort.

Hopfner F, Künstner A, Müller SH, Künzel S, Zeuner KE, Margraf NG, Deuschl G, Baines JF, Kuhlenbäumer G.

Brain Res. 2017 Jul 15;1667:41-45. doi: 10.1016/j.brainres.2017.04.019. Epub 2017 May 12.

PMID:
28506555
11.

Topography of essential tremor.

Chen W, Hopfner F, Szymczak S, Granert O, Müller SH, Kuhlenbäumer G, Deuschl G.

Parkinsonism Relat Disord. 2017 Jul;40:58-63. doi: 10.1016/j.parkreldis.2017.04.012. Epub 2017 Apr 20.

PMID:
28442304
12.

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

EuroEPINOMICS-RES Consortium. Electronic address: euroepinomics-RES@ua.ac.be; Epilepsy Phenome/Genome Project; Epi4K Consortium; EuroEPINOMICS-RES Consortium.

Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.012. No abstract available.

13.

Genome-wide association study in essential tremor identifies three new loci.

Müller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, Clark LN, Tittmann L, Soto-Ortolaza AI, Klebe S, Hallett M, Schneider SA, Hodgkinson CA, Lieb W, Wszolek ZK, Pendziwiat M, Lorenzo-Betancor O, Poewe W, Ortega-Cubero S, Seppi K, Rajput A, Hussl A, Rajput AH, Berg D, Dion PA, Wurster I, Shulman JM, Srulijes K, Haubenberger D, Pastor P, Vilariño-Güell C, Postuma RB, Bernard G, Ladwig KH, Dupré N, Jankovic J, Strauch K, Panisset M, Winkelmann J, Testa CM, Reischl E, Zeuner KE, Ross OA, Arzberger T, Chouinard S, Deuschl G, Louis ED, Kuhlenbäumer G, Rouleau GA.

Brain. 2016 Dec;139(Pt 12):3163-3169. Epub 2016 Oct 20.

14.

Knowledge gaps and research recommendations for essential tremor.

Hopfner F, Haubenberger D, Galpern WR, Gwinn K, Van't Veer A, White S, Bhatia K, Adler CH, Eidelberg D, Ondo W, Stebbins GT, Tanner CM, Helmich RC, Lenz FA, Sillitoe RV, Vaillancourt D, Vitek JL, Louis ED, Shill HA, Frosch MP, Foroud T, Kuhlenbäumer G, Singleton A, Testa CM, Hallett M, Elble R, Deuschl G.

Parkinsonism Relat Disord. 2016 Dec;33:27-35. doi: 10.1016/j.parkreldis.2016.10.002. Epub 2016 Oct 4. Review.

15.

Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.

Verdura E, Hervé D, Bergametti F, Jacquet C, Morvan T, Prieto-Morin C, Mackowiak A, Manchon E, Hosseini H, Cordonnier C, Girard-Buttaz I, Rosenstingl S, Hagel C, Kuhlenbaümer G, Leca-Radu E, Goux D, Fleming L, Van Agtmael T, Chabriat H, Chapon F, Tournier-Lasserve E.

Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19.

PMID:
27666438
16.

Early- and late-onset essential tremor patients represent clinically distinct subgroups.

Hopfner F, Ahlf A, Lorenz D, Klebe S, Zeuner KE, Kuhlenbäumer G, Deuschl G.

Mov Disord. 2016 Oct;31(10):1560-1566. doi: 10.1002/mds.26708.

PMID:
27384030
17.

Early-onset parkinsonism due to compound heterozygous POLG mutations.

Rempe T, Kuhlenbäumer G, Krüger S, Biskup S, Matschke J, Hagel C, Deuschl G, van Eimeren T.

Parkinsonism Relat Disord. 2016 Aug;29:135-7. doi: 10.1016/j.parkreldis.2016.04.020. Epub 2016 Apr 27. No abstract available.

PMID:
27185166
18.

Alpha synuclein and crystallin expression in human lens in Parkinson's disease.

Klettner A, Richert E, Kuhlenbäumer G, Nölle B, Bhatia KP, Deuschl G, Roider J, Schneider SA.

Mov Disord. 2016 Apr;31(4):600-1. doi: 10.1002/mds.26557. Epub 2016 Feb 16. Review. No abstract available.

PMID:
26880170
19.

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

Klein KM, Pendziwiat M, Cohen R, Appenzeller S, de Kovel CG, Rosenow F, Koeleman BP, Kuhlenbäumer G, Sheintuch L, Veksler R, Friedman A, Afawi Z, Helbig I.

J Neurol. 2016 Jan;263(1):11-6. doi: 10.1007/s00415-015-7921-2. Epub 2015 Oct 12.

PMID:
26459092
20.

Validation of the QUEST for German-speaking countries.

Hopfner F, Nebel A, Lyons KE, Tröster AI, Kuhlenbäumer G, Deuschl G, Martinez-Martin P.

Int J Neurosci. 2016;126(2):127-34. doi: 10.3109/00207454.2015.1077241. Epub 2015 Aug 25.

PMID:
26327253

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