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Items: 1 to 50 of 554

1.

Evaluation of variation in genes of the arylhydrocarbon receptor pathway for an association with multiple sclerosis.

Zorlu N, Hoffjan S, Haghikia A, Deyneko IV, Epplen JT.

J Neuroimmunol. 2019 Sep 15;334:576979. doi: 10.1016/j.jneuroim.2019.576979. Epub 2019 Jun 4.

PMID:
31181469
2.

Structural Asymmetry in the Frontal and Temporal Lobes Is Associated with PCSK6 VNTR Polymorphism.

Berretz G, Arning L, Gerding WM, Friedrich P, Fraenz C, Schlüter C, Epplen JT, Güntürkün O, Beste C, Genç E, Ocklenburg S.

Mol Neurobiol. 2019 May 21. doi: 10.1007/s12035-019-01646-1. [Epub ahead of print]

PMID:
31115778
3.

BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy.

Kropatsch R, Schmidt HM, Buttkereit P, Epplen JT, Hoffjan S.

Muscle Nerve. 2019 Apr;59(4):484-486. doi: 10.1002/mus.26394. Epub 2018 Dec 21.

PMID:
30536747
4.

TPP2 mutation associated with sterile brain inflammation mimicking MS.

Reinthaler EM, Graf E, Zrzavy T, Wieland T, Hotzy C, Kopecky C, Pferschy S, Schmied C, Leutmezer F, Keilani M, Lill CM, Hoffjan S, Epplen JT, Zettl UK, Hecker M, Deutschländer A, Meuth SG, Ahram M, Mustafa B, El-Khateeb M, Vilariño-Güell C, Sadovnick AD, Zimprich F, Tomkinson B, Strom T, Kristoferitsch W, Lassmann H, Zimprich A.

Neurol Genet. 2018 Nov 13;4(6):e285. doi: 10.1212/NXG.0000000000000285. eCollection 2018 Dec.

5.

Myelin Water Fraction Imaging Reveals Hemispheric Asymmetries in Human White Matter That Are Associated with Genetic Variation in PLP1.

Ocklenburg S, Anderson C, Gerding WM, Fraenz C, Schlüter C, Friedrich P, Raane M, Mädler B, Schlaffke L, Arning L, Epplen JT, Güntürkün O, Beste C, Genç E.

Mol Neurobiol. 2019 Jun;56(6):3999-4012. doi: 10.1007/s12035-018-1351-y. Epub 2018 Sep 21.

PMID:
30242727
6.

Neurodegeneration in the olfactory bulb and olfactory deficits in the Ccdc66 -/- mouse model for retinal degeneration.

Schreiber S, Petrasch-Parwez E, Porrmann-Kelterbaum E, Förster E, Epplen JT, Gerding WM.

IBRO Rep. 2018 Aug 24;5:43-53. doi: 10.1016/j.ibror.2018.08.004. eCollection 2018 Dec.

7.

PLP1 and CNTN1 gene variation modulates the microstructure of human white matter in the corpus callosum.

Anderson C, Gerding WM, Fraenz C, Schlüter C, Friedrich P, Raane M, Arning L, Epplen JT, Güntürkün O, Beste C, Genç E, Ocklenburg S.

Brain Struct Funct. 2018 Nov;223(8):3875-3887. doi: 10.1007/s00429-018-1729-7. Epub 2018 Aug 9.

PMID:
30094605
8.

Pathogenetic and Clinical Aspects of Anti-Neutrophil Cytoplasmic Autoantibody-Associated Vasculitides.

Lamprecht P, Kerstein A, Klapa S, Schinke S, Karsten CM, Yu X, Ehlers M, Epplen JT, Holl-Ulrich K, Wiech T, Kalies K, Lange T, Laudien M, Laskay T, Gemoll T, Schumacher U, Ullrich S, Busch H, Ibrahim S, Fischer N, Hasselbacher K, Pries R, Petersen F, Weppner G, Manz R, Humrich JY, Nieberding R, Riemekasten G, Müller A.

Front Immunol. 2018 Apr 9;9:680. doi: 10.3389/fimmu.2018.00680. eCollection 2018. Review.

9.

Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature.

Dusanic M, Dekomien G, Lücke T, Vorgerd M, Weis J, Epplen JT, Köhler C, Hoffjan S.

Mol Syndromol. 2018 Feb;9(2):100-109. doi: 10.1159/000485881. Epub 2018 Jan 24.

10.

PLP1 Gene Variation Modulates Leftward and Rightward Functional Hemispheric Asymmetries.

Ocklenburg S, Gerding WM, Raane M, Arning L, Genç E, Epplen JT, Güntürkün O, Beste C.

Mol Neurobiol. 2018 Oct;55(10):7691-7700. doi: 10.1007/s12035-018-0941-z. Epub 2018 Feb 13.

PMID:
29435918
11.

Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.

Aydin G, Dekomien G, Hoffjan S, Gerding WM, Epplen JT, Arning L.

BMC Neurol. 2018 Jan 9;18(1):3. doi: 10.1186/s12883-017-1009-9.

12.

Activation of NPY-Y2 receptors ameliorates disease pathology in the R6/2 mouse and PC12 cell models of Huntington's disease.

Fatoba O, Kloster E, Reick C, Saft C, Gold R, Epplen JT, Arning L, Ellrichmann G.

Exp Neurol. 2018 Apr;302:112-128. doi: 10.1016/j.expneurol.2018.01.001. Epub 2018 Jan 6.

PMID:
29309751
13.

Genome-wide profiling of S/MAR-based replicon contact sites.

Hagedorn C, Gogol-Döring A, Schreiber S, Epplen JT, Lipps HJ.

Nucleic Acids Res. 2017 Jul 27;45(13):7841-7854. doi: 10.1093/nar/gkx522.

14.

Prospective Evaluation of Predictive DNA Testing for Huntington's Disease in a Large German Center.

Ibisler A, Ocklenburg S, Stemmler S, Arning L, Epplen JT, Saft C, Hoffjan S.

J Genet Couns. 2017 Oct;26(5):1029-1040. doi: 10.1007/s10897-017-0085-8. Epub 2017 Mar 30.

PMID:
28361381
15.

Cognitive Control Processes and Functional Cerebral Asymmetries: Association with Variation in the Handedness-Associated Gene LRRTM1.

Beste C, Arning L, Gerding WM, Epplen JT, Mertins A, Röder MC, Bless JJ, Hugdahl K, Westerhausen R, Güntürkün O, Ocklenburg S.

Mol Neurobiol. 2018 Mar;55(3):2268-2274. doi: 10.1007/s12035-017-0485-7. Epub 2017 Mar 21.

PMID:
28321770
16.

Epigenetic regulation of lateralized fetal spinal gene expression underlies hemispheric asymmetries.

Ocklenburg S, Schmitz J, Moinfar Z, Moser D, Klose R, Lor S, Kunz G, Tegenthoff M, Faustmann P, Francks C, Epplen JT, Kumsta R, Güntürkün O.

Elife. 2017 Feb 1;6. pii: e22784. doi: 10.7554/eLife.22784.

17.

Myelin Genes and the Corpus Callosum: Proteolipid Protein 1 (PLP1) and Contactin 1 (CNTN1) Gene Variation Modulates Interhemispheric Integration.

Ocklenburg S, Gerding WM, Arning L, Genç E, Epplen JT, Güntürkün O, Beste C.

Mol Neurobiol. 2017 Dec;54(10):7908-7916. doi: 10.1007/s12035-016-0285-5. Epub 2016 Nov 18.

PMID:
27864734
18.

Left-Right Axis Differentiation and Functional Lateralization: a Haplotype in the Methyltransferase Encoding Gene SETDB2 Might Mediate Handedness in Healthy Adults.

Ocklenburg S, Arning L, Gerding WM, Hengstler JG, Epplen JT, Güntürkün O, Beste C, Akkad DA.

Mol Neurobiol. 2016 Nov;53(9):6355-6361. doi: 10.1007/s12035-015-9534-2. Epub 2015 Nov 16.

PMID:
26572639
19.

A large deletion in RPGR causes XLPRA in Weimaraner dogs.

Kropatsch R, Akkad DA, Frank M, Rosenhagen C, Altmüller J, Nürnberg P, Epplen JT, Dekomien G.

Canine Genet Epidemiol. 2016 Jul 8;3:7. doi: 10.1186/s40575-016-0037-x. eCollection 2016.

20.

A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.

Rey LK, Kohlhase J, Möllenhoff K, Dekomien G, Epplen JT, Hoffjan S.

Mol Syndromol. 2016 Apr;7(1):26-31. doi: 10.1159/000444615. Epub 2016 Mar 15.

21.

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.

Sadovnick AD, Traboulsee AL, Bernales CQ, Ross JP, Forwell AL, Yee IM, Guillot-Noel L, Fontaine B, Cournu-Rebeix I, Alcina A, Fedetz M, Izquierdo G, Matesanz F, Hilven K, Dubois B, Goris A, Astobiza I, Alloza I, Antigüedad A, Vandenbroeck K, Akkad DA, Aktas O, Blaschke P, Buttmann M, Chan A, Epplen JT, Gerdes LA, Kroner A, Kubisch C, Kümpfel T, Lohse P, Rieckmann P, Zettl UK, Zipp F, Bertram L, Lill CM, Fernandez O, Urbaneja P, Leyva L, Alvarez-Cermeño JC, Arroyo R, Garagorri AM, García-Martínez A, Villar LM, Urcelay E, Malhotra S, Montalban X, Comabella M, Berger T, Fazekas F, Reindl M, Schmied MC, Zimprich A, Vilariño-Güell C.

G3 (Bethesda). 2016 Jul 7;6(7):2073-9. doi: 10.1534/g3.116.030841.

22.

Dissociable electrophysiological subprocesses during response inhibition are differentially modulated by dopamine D1 and D2 receptors.

Beste C, Stock AK, Epplen JT, Arning L.

Eur Neuropsychopharmacol. 2016 Jun;26(6):1029-36. doi: 10.1016/j.euroneuro.2016.03.002. Epub 2016 Mar 9.

PMID:
27021648
23.

Multiple sclerosis in families: risk factors beyond known genetic polymorphisms.

Akkad DA, Lee DH, Bruch K, Haghikia A, Epplen JT, Hoffjan S, Linker RA.

Neurogenetics. 2016 Apr;17(2):131-5. doi: 10.1007/s10048-016-0474-4. Epub 2016 Feb 11.

PMID:
26865406
24.

Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.

Kastner S, Thiemann IJ, Dekomien G, Petrasch-Parwez E, Schreiber S, Akkad DA, Gerding WM, Hoffjan S, Günes S, Günes S, Bagci H, Epplen JT.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8045-53. doi: 10.1167/iovs.15-17473.

PMID:
26720455
25.

Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.

Ibisler A, Hehr U, Barth A, Koch M, Epplen JT, Hoffjan S.

Mol Syndromol. 2015 Oct;6(4):173-80. doi: 10.1159/000439414. Epub 2015 Oct 7.

26.

Genome-wide significant association with seven novel multiple sclerosis risk loci.

Lill CM, Luessi F, Alcina A, Sokolova EA, Ugidos N, de la Hera B, Guillot-Noël L, Malhotra S, Reinthaler E, Schjeide BM, Mescheriakova JY, Mashychev A, Wohlers I, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Astobiza I, Blaschke P, Boyko AN, Buttmann M, Chan A, Dörner T, Epplen JT, Favorova OO, Fedetz M, Fernández O, García-Martínez A, Gerdes LA, Graetz C, Hartung HP, Hoffjan S, Izquierdo G, Korobko DS, Kroner A, Kubisch C, Kümpfel T, Leyva L, Lohse P, Malkova NA, Montalban X, Popova EV, Rieckmann P, Rozhdestvenskii AS, Schmied C, Smagina IV, Tsareva EY, Winkelmann A, Zettl UK, Binder H, Cournu-Rebeix I, Hintzen R, Zimprich A, Comabella M, Fontaine B, Urcelay E, Vandenbroeck K, Filipenko M, Matesanz F, Zipp F, Bertram L.

J Med Genet. 2015 Dec;52(12):848-55. doi: 10.1136/jmedgenet-2015-103442. Epub 2015 Oct 16.

PMID:
26475045
27.

Homozygosity mapping and sequencing identify two genes that might contribute to pointing behavior in hunting dogs.

Akkad DA, Gerding WM, Gasser RB, Epplen JT.

Canine Genet Epidemiol. 2015 Apr 18;2:5. doi: 10.1186/s40575-015-0018-5. eCollection 2015.

28.
29.

MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.

Hoffjan S, Epplen JT, Reis A, Abou Jamra R.

Mol Syndromol. 2015 Jul;6(2):58-62. doi: 10.1159/000371399. Epub 2015 Mar 4.

30.

Combinations of susceptibility genes are associated with higher risk for multiple sclerosis and imply disease course specificity.

Akkad DA, Olischewsky A, Reiner F, Hellwig K, Esser S, Epplen JT, Curk T, Gold R, Haghikia A.

PLoS One. 2015 May 26;10(5):e0127632. doi: 10.1371/journal.pone.0127632. eCollection 2015.

31.

Molecular Genetics of Sex Identification, Breed Ancestry and Polydactyly in the Norwegian Lundehund Breed.

Kropatsch R, Melis C, Stronen AV, Jensen H, Epplen JT.

J Hered. 2015 Jul-Aug;106(4):403-6. doi: 10.1093/jhered/esv031. Epub 2015 May 20.

PMID:
25994807
32.

Association of TNFAIP3 and TNFRSF1A variation with multiple sclerosis in a German case-control cohort.

Hoffjan S, Okur A, Epplen JT, Wieczorek S, Chan A, Akkad DA.

Int J Immunogenet. 2015 Apr;42(2):106-10. doi: 10.1111/iji.12183. Epub 2015 Feb 12.

PMID:
25684197
33.

Smaller caliber renal arteries are a novel feature of uromodulin-associated kidney disease.

Prejbisz A, Sellin L, Szwench-Pietrasz E, Woznowski M, Michałowska I, Blondin D, Sajnaga D, Epplen JT, Litwin M, Dekomien G, Januszewicz M, Helmchen U, Matuszkiewicz-Rowińska J, Adamczak M, Więcek A, Januszewicz A, Rump LC.

Kidney Int. 2015 Jul;88(1):160-6. doi: 10.1038/ki.2015.2. Epub 2015 Feb 11.

PMID:
25671765
34.

Handedness and the X chromosome: the role of androgen receptor CAG-repeat length.

Arning L, Ocklenburg S, Schulz S, Ness V, Gerding WM, Hengstler JG, Falkenstein M, Epplen JT, Güntürkün O, Beste C.

Sci Rep. 2015 Feb 9;5:8325. doi: 10.1038/srep08325.

35.

Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability.

Akkad DA, Bellenberg B, Esser S, Weiler F, Epplen JT, Gold R, Lukas C, Haghikia A.

Neurogenetics. 2015 Jul;16(3):161-8. doi: 10.1007/s10048-015-0438-0. Epub 2015 Jan 27.

PMID:
25620546
36.

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

Tschentscher A, Dekomien G, Ross S, Cremer K, Kukuk GM, Epplen JT, Hoffjan S.

J Neurol Sci. 2015 Feb 15;349(1-2):105-9. doi: 10.1016/j.jns.2014.12.036. Epub 2015 Jan 3.

PMID:
25592411
37.

Numerical and structural chromosomal anomalies in undifferentiated pleomorphic sarcoma.

Becerikli M, Wieczorek S, Stricker I, Nambiar S, Rittig A, Epplen JT, Tannapfel A, Lehnhardt M, Steinstraesser L, Jacobsen F.

Anticancer Res. 2014 Dec;34(12):7119-27.

PMID:
25503139
38.

Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case-control cohort.

Stemmler S, Parwez Q, Petrasch-Parwez E, Epplen JT, Hoffjan S.

BMC Dermatol. 2014 Nov 3;14:17. doi: 10.1186/1471-5945-14-17.

39.

Analysis of polymorphisms in RIG-I-like receptor genes in German multiple sclerosis patients.

Varzari A, Bruch K, Deyneko IV, Chan A, Epplen JT, Hoffjan S.

J Neuroimmunol. 2014 Dec 15;277(1-2):140-4. doi: 10.1016/j.jneuroim.2014.09.015. Epub 2014 Sep 28.

PMID:
25288302
40.

Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening.

Handt M, Epplen A, Hoffjan S, Mese K, Epplen JT, Dekomien G.

Mol Cell Probes. 2014 Oct-Dec;28(5-6):279-83. doi: 10.1016/j.mcp.2014.08.003. Epub 2014 Aug 27.

PMID:
25171808
41.

On the relevance of the NPY2-receptor variation for modes of action cascading processes.

Beste C, Stock AK, Epplen JT, Arning L.

Neuroimage. 2014 Nov 15;102 Pt 2:558-64. doi: 10.1016/j.neuroimage.2014.08.026. Epub 2014 Aug 23.

PMID:
25157429
42.

DRD1 and DRD2 genotypes modulate processing modes of goal activation processes during action cascading.

Stock AK, Arning L, Epplen JT, Beste C.

J Neurosci. 2014 Apr 9;34(15):5335-41. doi: 10.1523/JNEUROSCI.5140-13.2014.

43.

NPY2-receptor variation modulates iconic memory processes.

Arning L, Stock AK, Kloster E, Epplen JT, Beste C.

Eur Neuropsychopharmacol. 2014 Aug;24(8):1298-302. doi: 10.1016/j.euroneuro.2014.03.003. Epub 2014 Mar 22.

PMID:
24709141
44.

Assessment of microRNA-related SNP effects in the 3' untranslated region of the IL22RA2 risk locus in multiple sclerosis.

Lill CM, Schilling M, Ansaloni S, Schröder J, Jaedicke M, Luessi F, Schjeide BM, Mashychev A, Graetz C, Akkad DA, Gerdes LA, Kroner A, Blaschke P, Hoffjan S, Winkelmann A, Dörner T, Rieckmann P, Steinhagen-Thiessen E, Lindenberger U, Chan A, Hartung HP, Aktas O, Lohse P, Buttmann M, Kümpfel T, Kubisch C, Zettl UK, Epplen JT, Zipp F, Bertram L.

Neurogenetics. 2014 May;15(2):129-34. doi: 10.1007/s10048-014-0396-y. Epub 2014 Mar 18.

PMID:
24638856
45.

The SEM6A6 locus is not associated with granulomatosis with polyangiitis or other forms of antineutrophil cytoplasmic antibody-associated vasculitides in Europeans: comment on the article by Xie et al.

Wieczorek S, Holle JU, Cohen Tervaert JW, Harper L, Moosig F, Gross WL, Epplen JT.

Arthritis Rheumatol. 2014 May;66(5):1400-1. doi: 10.1002/art.38367. No abstract available.

46.

Association of age at onset in Huntington disease with functional promoter variations in NPY and NPY2R.

Kloster E, Saft C, Akkad DA, Epplen JT, Arning L.

J Mol Med (Berl). 2014 Feb;92(2):177-84.

PMID:
24121255
47.

Clinical utility gene card for: Huntington's disease.

Saft C, Leavitt BR, Epplen JT.

Eur J Hum Genet. 2014 May;22(5). doi: 10.1038/ejhg.2013.206. Epub 2013 Oct 9. No abstract available.

48.

SOX9 duplication linked to intersex in deer.

Kropatsch R, Dekomien G, Akkad DA, Gerding WM, Petrasch-Parwez E, Young ND, Altmüller J, Nürnberg P, Gasser RB, Epplen JT.

PLoS One. 2013 Sep 6;8(9):e73734. doi: 10.1371/journal.pone.0073734. eCollection 2013.

49.

Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.

Schröder NW, Grieben U, Prokop S, Dekomien G, Epplen JT, Heppner FL, Goebel HH, Stenzel W.

Muscle Nerve. 2014 Jan;49(1):144-5. doi: 10.1002/mus.23981. Epub 2013 Dec 3. No abstract available.

PMID:
23929688
50.

FOXP2 variation modulates functional hemispheric asymmetries for speech perception.

Ocklenburg S, Arning L, Gerding WM, Epplen JT, Güntürkün O, Beste C.

Brain Lang. 2013 Sep;126(3):279-84. doi: 10.1016/j.bandl.2013.07.001. Epub 2013 Aug 2.

PMID:
23911943

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