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Items: 1 to 20 of 118

1.

Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.

Forstner AJ, Fischer SB, Schenk LM, Strohmaier J, Maaser-Hecker A, Reinbold CS, Sivalingam S, Hecker J, Streit F, Degenhardt F, Witt SH, Schumacher J, Thiele H, Nürnberg P, Guzman-Parra J, Orozco Diaz G, Auburger G, Albus M, Borrmann-Hassenbach M, González MJ, Gil Flores S, Cabaleiro Fabeiro FJ, Del Río Noriega F, Perez Perez F, Haro González J, Rivas F, Mayoral F, Bauer M, Pfennig A, Reif A, Herms S, Hoffmann P, Pirooznia M, Goes FS, Rietschel M, Nöthen MM, Cichon S.

Transl Psychiatry. 2020 Feb 4;10(1):57. doi: 10.1038/s41398-020-0732-y.

2.

The RNA-Binding Protein ATXN2 is Expressed during Megakaryopoiesis and May Control Timing of Gene Expression.

Hansen M, Zeddies S, Meinders M, di Summa F, van Alphen FPJ, Hoogendijk AJ, Moore KS, Halbach M, Gutiérrez L, van den Biggelaar M, Thijssen-Timmer DC, Auburger GWJ, van den Akker E, von Lindern M, Rollmann E.

Int J Mol Sci. 2020 Jan 31;21(3). pii: E967. doi: 10.3390/ijms21030967.

3.

One‑carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2.

Almaguer-Mederos LE, Jorge-Sainz Y, Almaguer-Gotay D, Aguilera-Rodríguez R, Rodríguez-Labrada R, Velázquez-Pérez L, González-Zaldívar Y, Cuello-Almarales D, Vázquez-Mojena Y, Canales-Ochoa N, Aguiar-Santiago J, Auburger G, MacLeod P.

J Neurol Sci. 2020 Feb 15;409:116586. doi: 10.1016/j.jns.2019.116586. Epub 2019 Nov 22.

PMID:
31812845
4.

In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism.

Sen NE, Arsovic A, Meierhofer D, Brodesser S, Oberschmidt C, Canet-Pons J, Kaya ZE, Halbach MV, Gispert S, Sandhoff K, Auburger G.

Int J Mol Sci. 2019 Nov 21;20(23). pii: E5854. doi: 10.3390/ijms20235854.

5.

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders.

Andlauer TFM, Guzman-Parra J, Streit F, Strohmaier J, González MJ, Gil Flores S, Cabaleiro Fabeiro FJ, Del Río Noriega F, Perez FP, Haro González J, Orozco Diaz G, de Diego-Otero Y, Moreno-Küstner B, Auburger G, Degenhardt F, Heilmann-Heimbach S, Herms S, Hoffmann P, Frank J, Foo JC, Treutlein J, Witt SH, Cichon S, Kogevinas M; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Rivas F, Mayoral F, Müller-Myhsok B, Forstner AJ, Nöthen MM, Rietschel M.

Mol Psychiatry. 2019 Nov 11. doi: 10.1038/s41380-019-0558-2. [Epub ahead of print]

PMID:
31712721
6.

Global Proteome of LonP1+/- Mouse Embryonal Fibroblasts Reveals Impact on Respiratory Chain, but No Interdependence between Eral1 and Mitoribosomes.

Key J, Kohli A, Bárcena C, López-Otín C, Heidler J, Wittig I, Auburger G.

Int J Mol Sci. 2019 Sep 12;20(18). pii: E4523. doi: 10.3390/ijms20184523.

7.

MISTERMINATE Mechanistically Links Mitochondrial Dysfunction with Proteostasis Failure.

Wu Z, Tantray I, Lim J, Chen S, Li Y, Davis Z, Sitron C, Dong J, Gispert S, Auburger G, Brandman O, Bi X, Snyder M, Lu B.

Mol Cell. 2019 Aug 22;75(4):835-848.e8. doi: 10.1016/j.molcel.2019.06.031. Epub 2019 Aug 1.

PMID:
31378462
8.

Generation of an Atxn2-CAG100 knock-in mouse reveals N-acetylaspartate production deficit due to early Nat8l dysregulation.

Sen NE, Canet-Pons J, Halbach MV, Arsovic A, Pilatus U, Chae WH, Kaya ZE, Seidel K, Rollmann E, Mittelbronn M, Meierhofer D, De Zeeuw CI, Bosman LWJ, Gispert S, Auburger G.

Neurobiol Dis. 2019 Dec;132:104559. doi: 10.1016/j.nbd.2019.104559. Epub 2019 Jul 31.

9.

SerThr-PhosphoProteome of Brain from Aged PINK1-KO+A53T-SNCA Mice Reveals pT1928-MAP1B and pS3781-ANK2 Deficits, as Hub between Autophagy and Synapse Changes.

Auburger G, Gispert S, Torres-Odio S, Jendrach M, Brehm N, Canet-Pons J, Key J, Sen NE.

Int J Mol Sci. 2019 Jul 4;20(13). pii: E3284. doi: 10.3390/ijms20133284.

10.

Sensory neuropathy and nociception in rodent models of Parkinson's disease.

Valek L, Auburger G, Tegeder I.

Dis Model Mech. 2019 Jun 27;12(6). pii: dmm039396. doi: 10.1242/dmm.039396. Review.

11.

Age-related dysfunction of the autophago-lysosomal pathway in human endothelial cells.

Mai S, Brehm N, Auburger G, Bereiter-Hahn J, Jendrach M.

Pflugers Arch. 2019 Aug;471(8):1065-1078. doi: 10.1007/s00424-019-02288-x. Epub 2019 Jun 21.

PMID:
31222491
12.

Sleep spindles and K-complex activities are decreased in spinocerebellar ataxia type 2: relationship to memory and motor performances.

Rodríguez-Labrada R, Galicia-Polo L, Canales-Ochoa N, Voss U, Tuin I, Peña-Acosta A, Estupiñán-Rodriguez A, Medrano-Montero J, Vázquez-Mojena Y, González-Zaldivar Y, Auburger G, Velázquez-Pérez L.

Sleep Med. 2019 Aug;60:188-196. doi: 10.1016/j.sleep.2019.04.005. Epub 2019 Apr 19.

PMID:
31186215
13.

Exome sequencing in large, multiplex bipolar disorder families from Cuba.

Maaser A, Forstner AJ, Strohmaier J, Hecker J, Ludwig KU, Sivalingam S, Streit F, Degenhardt F, Witt SH, Reinbold CS, Koller AC, Raff R, Heilmann-Heimbach S, Fischer SB; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Herms S, Hoffmann P, Thiele H, Nürnberg P, Löhlein Fier H, Orozco-Díaz G, Carmenate-Naranjo D, Proenza-Barzaga N, Auburger GWJ, Andlauer TFM, Cichon S, Marcheco-Teruel B, Mors O, Rietschel M, Nöthen MM.

PLoS One. 2018 Oct 31;13(10):e0205895. doi: 10.1371/journal.pone.0205895. eCollection 2018.

14.

Ataxia telangiectasia alters the ApoB and reelin pathway.

Canet-Pons J, Schubert R, Duecker RP, Schrewe R, Wölke S, Kieslich M, Schnölzer M, Chiocchetti A, Auburger G, Zielen S, Warnken U.

Neurogenetics. 2018 Dec;19(4):237-255. doi: 10.1007/s10048-018-0557-5. Epub 2018 Oct 21.

PMID:
30343341
15.

Impaired Photic Entrainment of Spontaneous Locomotor Activity in Mice Overexpressing Human Mutant α-Synuclein.

Pfeffer M, Zimmermann Z, Gispert S, Auburger G, Korf HW, von Gall C.

Int J Mol Sci. 2018 Jun 3;19(6). pii: E1651. doi: 10.3390/ijms19061651.

16.

Progression of corticospinal tract dysfunction in pre-ataxic spinocerebellar ataxia type 2: A two-years follow-up TMS study.

Velázquez-Pérez L, Rodríguez-Labrada R, Torres-Vega R, Ortega-Sánchez R, Medrano-Montero J, González-Piña R, Vázquez-Mojena Y, Auburger G, Ziemann U.

Clin Neurophysiol. 2018 May;129(5):895-900. doi: 10.1016/j.clinph.2018.01.066. Epub 2018 Mar 15.

PMID:
29550649
17.

Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2.

Reetz K, Rodríguez-Labrada R, Dogan I, Mirzazade S, Romanzetti S, Schulz JB, Cruz-Rivas EM, Alvarez-Cuesta JA, Aguilera Rodríguez R, Gonzalez Zaldivar Y, Auburger G, Velázquez-Pérez L.

Ann Clin Transl Neurol. 2018 Jan 7;5(2):128-137. doi: 10.1002/acn3.504. eCollection 2018 Feb.

18.

Loss of mitochondrial protease ClpP protects mice from diet-induced obesity and insulin resistance.

Bhaskaran S, Pharaoh G, Ranjit R, Murphy A, Matsuzaki S, Nair BC, Forbes B, Gispert S, Auburger G, Humphries KM, Kinter M, Griffin TM, Deepa SS.

EMBO Rep. 2018 Mar;19(3). pii: e45009. doi: 10.15252/embr.201745009. Epub 2018 Feb 2.

19.

Developing the field of neurogenetics.

Müller U, Auburger G, Graeber MB, Ptacek LJ.

Neurogenetics. 2017 Dec;18(4):183-184. doi: 10.1007/s10048-017-0530-8. No abstract available.

PMID:
29164503
20.

Early corticospinal tract damage in prodromal SCA2 revealed by EEG-EMG and EMG-EMG coherence.

Velázquez-Pérez L, Tünnerhoff J, Rodríguez-Labrada R, Torres-Vega R, Ruiz-Gonzalez Y, Belardinelli P, Medrano-Montero J, Canales-Ochoa N, González-Zaldivar Y, Vazquez-Mojena Y, Auburger G, Ziemann U.

Clin Neurophysiol. 2017 Dec;128(12):2493-2502. doi: 10.1016/j.clinph.2017.10.009. Epub 2017 Oct 20.

PMID:
29101844

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