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Items: 1 to 20 of 103

1.

Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia.

Brownjohn PW, Smith J, Solanki R, Lohmann E, Houlden H, Hardy J, Dietmann S, Livesey FJ.

Stem Cell Reports. 2018 Apr 10;10(4):1294-1307. doi: 10.1016/j.stemcr.2018.03.003. Epub 2018 Mar 29.

2.

Role of LRRK2 and SNCA in autosomal dominant Parkinson's disease in Turkey.

Kessler C, Atasu B, Hanagasi H, Simón-Sánchez J, Hauser AK, Pak M, Bilgic B, Erginel-Unaltuna N, Gurvit H, Gasser T, Lohmann E.

Parkinsonism Relat Disord. 2018 Mar;48:34-39. doi: 10.1016/j.parkreldis.2017.12.007. Epub 2017 Dec 9.

PMID:
29248340
3.

Mutations in TYROBP are not a common cause of dementia in a Turkish cohort.

Darwent L, Carmona S, Lohmann E, Guven G, Kun-Rodrigues C, Bilgic B, Hanagasi H, Gurvit H, Erginel-Unaltuna N, Pak M, Hardy J, Singleton A, Brás J, Guerreiro R.

Neurobiol Aging. 2017 Oct;58:240.e1-240.e3. doi: 10.1016/j.neurobiolaging.2017.06.019. Epub 2017 Jun 28.

PMID:
28716534
4.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.

Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095.

PMID:
28459997
5.

Equilibration of Micelle-Polyelectrolyte Complexes: Mechanistic Differences between Static and Annealed Charge Distributions.

Laaser JE, McGovern M, Jiang Y, Lohmann E, Reineke TM, Morse DC, Dorfman KD, Lodge TP.

J Phys Chem B. 2017 May 4;121(17):4631-4641. doi: 10.1021/acs.jpcb.7b01953. Epub 2017 Apr 25.

PMID:
28441017
6.

Needs and Requirements of Modern Biobanks on the Example of Dystonia Syndromes.

Lohmann E, Gasser T, Grundmann K.

Front Neurol. 2017 Jan 30;8:9. doi: 10.3389/fneur.2017.00009. eCollection 2017.

7.

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.

Guven G, Lohmann E, Bras J, Gibbs JR, Gurvit H, Bilgic B, Hanagasi H, Rizzu P, Heutink P, Emre M, Erginel-Unaltuna N, Just W, Hardy J, Singleton A, Guerreiro R.

PLoS One. 2016 Sep 15;11(9):e0162592. doi: 10.1371/journal.pone.0162592. eCollection 2016.

8.

Vitamin D deficiency might pose a greater risk for ApoEɛ4 non-carrier Alzheimer's disease patients.

Dursun E, Alaylıoğlu M, Bilgiç B, Hanağası H, Lohmann E, Atasoy IL, Candaş E, Araz ÖS, Önal B, Gürvit H, Yılmazer S, Gezen-Ak D.

Neurol Sci. 2016 Oct;37(10):1633-43. doi: 10.1007/s10072-016-2647-1. Epub 2016 Jun 29.

PMID:
27357856
9.

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.

Giri A, Guven G, Hanagasi H, Hauser AK, Erginul-Unaltuna N, Bilgic B, Gurvit H, Heutink P, Gasser T, Lohmann E, Simón-Sánchez J.

Tremor Other Hyperkinet Mov (N Y). 2016 Mar 16;6:363. doi: 10.7916/D81G0M12. eCollection 2016.

10.

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.

Hanagasi HA, Giri A, Kartal E, Guven G, Bilgiç B, Hauser AK, Emre M, Heutink P, Basak N, Gasser T, Simón-Sánchez J, Lohmann E.

Parkinsonism Relat Disord. 2016 Aug;29:117-20. doi: 10.1016/j.parkreldis.2016.03.001. Epub 2016 Mar 3.

PMID:
26972524
11.

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC).

Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014.

12.

The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.

Mencacci NE, R'bibo L, Bandres-Ciga S, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Batla A, Bhatia KP, Pittman AM, Hardy J, Weissbach A, Klein C, Gasser T, Lohmann E, Wood NW.

Hum Mol Genet. 2015 Sep 15;24(18):5326-9. doi: 10.1093/hmg/ddv255. Epub 2015 Jul 8.

13.

A new F-box protein 7 gene mutation causing typical Parkinson's disease.

Lohmann E, Coquel AS, Honoré A, Gurvit H, Hanagasi H, Emre M, Leutenegger AL, Drouet V, Sahbatou M, Guven G, Erginel-Unaltuna N, Deleuze JF, Lesage S, Brice A.

Mov Disord. 2015 Jul;30(8):1130-3. doi: 10.1002/mds.26266. Epub 2015 May 23.

PMID:
26010069
14.

The interleukin 1 alpha, interleukin 1 beta, interleukin 6 and alpha-2-macroglobulin serum levels in patients with early or late onset Alzheimer's disease, mild cognitive impairment or Parkinson's disease.

Dursun E, Gezen-Ak D, Hanağası H, Bilgiç B, Lohmann E, Ertan S, Atasoy İL, Alaylıoğlu M, Araz ÖS, Önal B, Gündüz A, Apaydın H, Kızıltan G, Ulutin T, Gürvit H, Yılmazer S.

J Neuroimmunol. 2015 Jun 15;283:50-7. doi: 10.1016/j.jneuroim.2015.04.014. Epub 2015 Apr 25.

PMID:
26004156
15.

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW.

Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14.

16.

Clinical variability in ataxia-telangiectasia.

Lohmann E, Krüger S, Hauser AK, Hanagasi H, Guven G, Erginel-Unaltuna N, Biskup S, Gasser T.

J Neurol. 2015 Jul;262(7):1724-7. doi: 10.1007/s00415-015-7762-z. Epub 2015 May 10.

PMID:
25957637
17.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE.

Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17.

18.

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis.

Kleinberger G, Yamanishi Y, Suárez-Calvet M, Czirr E, Lohmann E, Cuyvers E, Struyfs H, Pettkus N, Wenninger-Weinzierl A, Mazaheri F, Tahirovic S, Lleó A, Alcolea D, Fortea J, Willem M, Lammich S, Molinuevo JL, Sánchez-Valle R, Antonell A, Ramirez A, Heneka MT, Sleegers K, van der Zee J, Martin JJ, Engelborghs S, Demirtas-Tatlidede A, Zetterberg H, Van Broeckhoven C, Gurvit H, Wyss-Coray T, Hardy J, Colonna M, Haass C.

Sci Transl Med. 2014 Jul 2;6(243):243ra86. doi: 10.1126/scitranslmed.3009093.

19.

Unusual variability of PRRT2 linked phenotypes within a family.

Brueckner F, Kohl B, Puest B, Gassner S, Osseforth J, Lindenau M, Stodieck S, Biskup S, Lohmann E.

Eur J Paediatr Neurol. 2014 Jul;18(4):540-2. doi: 10.1016/j.ejpn.2014.03.012. Epub 2014 Apr 8.

PMID:
24755245
20.

The Relationship of White Matter Hyperintensities with Depressive Symptoms and Daily Living Activities in Early-Stage Alzheimer's Disease Patients.

Bilgiç B, Bayram A, Hanağasi HA, Tümaç A, Uysal P, Şentürk G, Alpsan H, Lohmann E, Gürvit H, Emre M.

Noro Psikiyatr Ars. 2013 Dec;50(4):360-363. doi: 10.4274/Npa.y6603. Epub 2013 Dec 1.

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