Publications
2023
- Aust, E., Graupner, S.-T., Günther, R., Linse, K., Joos, M., Grosskreutz, J., Prudlo, J., Pannasch, S., Hermann, A., 2023a. Impairment of oculomotor functions in patients with early to advanced amyotrophic lateral sclerosis. Journal of neurology. https://doi.org/10.1007/s00415-023-11957-y. Pubmed 37713127
- Aust, E., Günther, R., Hermann, A., Linse, K., 2023b. Psychologically guided group meetings for family caregivers of ALS patients [Psychologisch geleitete Gruppentreffen für Angehörige von ALS-Patient*innen]. Fortschritte der Neurologie-Psychiatrie.https://doi.org/10.1055/a-2156-9013. Pubmed 37931648
- Boentert, M., Hermann, A., Großkreutz, J., 2023. Amyotrophic Lateral Sclerosis: Advances and Prospects. Journal of clinical medicine 12. https://doi.org/10.3390/jcm12155055. Pubmed 37568457
- Chemla, A., Arena, G., Onal, G., Walter, J., Berenguer-Escuder, C., Grossmann, D., Grünewald, A., Schwamborn, J.C., Krüger, R., 2023a. Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson‘s disease patients carrying the heterozygous mutations c.815G A (p.R272Q) or c.1348C T (p.R450C) in the RHOT1 gene encoding Miro1. Stem cell research 71, 103145. https://doi.org/10.1016/j.scr.2023.103145. Pubmed 37364399
- Chemla, A., Arena, G., Saraiva, C., Berenguer-Escuder, C., Grossmann, D., Grünewald, A., Klein, C., Seibler, P., Schwamborn, J.C., Krüger, R., 2023b. Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson‘s disease patients carrying the heterozygous mutations c.1290A G (p.T351A) or c.2067A G (p.T610A) in the RHOT1 gene encoding Miro1. Stem cell research 69, 103085. https://doi.org/10.1016/j.scr.2023.103085. Pubmed 37003181
- Dash, B.P., Hermann, A., 2023. Combination of novel RNA sequencing and sophisticated network modeling to reveal a common denominator in amyotrophic lateral sclerosis? Neural regeneration research 18, 2403–2405. https://doi.org/10.4103/1673-5374.371364. Pubmed 37282469
- Dieter, M., Kevin, P., Tobias, V., Andreas, H., Lorenz, N., Kathrin, K., Nikolaus, K., Juergen, B., Jan, R., Adrian, D., 2023. Polysomnographic findings in the ultra-rare McLeod syndrome: further documentation of sleep apnea as possible feature. Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine. https://doi.org/10.5664/jcsm.10854. Pubmed 37811906
- Efendic, F., Krohn, S., Murua Escobar, H., Venkateswaran, S., Bennett, S.A.L., Hermann, A., Frech, M.J., 2023. Generation of the human iPSC lines AKOSi011-A carrying the mutation p.Pro65Ser/p.Asp35T and AKOSi012-A, carrying the mutation p.Tyr231His, derived from FAHN patient fibroblasts. Stem cell research 71, 103178. https://doi.org/10.1016/j.scr.2023.103178. Pubmed 37573804
- Freigang, M., Langner, S., Hermann, A., Günther, R., 2023. Impaired diaphragmatic motility in treatment-naive adult patients with spinal muscular atrophy improved during nusinersen treatment. Muscle & nerve 68, 278–285. https://doi.org/10.1002/mus.27938. Pubmed 37466180
- Glaß, H., Jonitz-Heincke, A., Petters, J., Lukas, J., Bader, R., Hermann, A., 2023. Corrosion Products from Metallic Implants Induce ROS and Cell Death in Human Motoneurons In Vitro. Journal of functional biomaterials 14. https://doi.org/10.3390/jfb14080392. Pubmed 37623637
- Grossmann, D., Malburg, N., Glaß, H., Weeren, V., Sondermann, V., Pfeiffer, J.F., Petters, J., Lukas, J., Seibler, P., Klein, C., Grünewald, A., Hermann, A., 2023. Mitochondria-Endoplasmic Reticulum Contact Sites Dynamics and Calcium Homeostasis Are Differentially Disrupted in PINK1-PD or PRKN-PD Neurons. Movement disorders : official journal of the Movement Disorder Society 38, 1822–1836. https://doi.org/10.1002/mds.29525. Pubmed 37449534
- Hartmann, C., Herling, L., Hartmann, A., Köckritz, V., Fuellen, G., Walter, M., Hermann, A., 2023. Systematic estimation of biological age of in vitro cell culture systems by an age-associated marker panel. Frontiers in aging 4, 1129107. https://doi.org/10.3389/fragi.2023.1129107. Pubmed 36873743
- Heinrich, F., Cordts, I., Günther, R., Stolte, B., Zeller, D., Schröter, C., Weyen, U., Regensburger, M., Wolf, J., Schneider, I., Hermann, A., Metelmann, M., Kohl, Z., Linker, R.A., Koch, J.C., Radelfahr, F., Schönfelder, E., Gardt, P., Mohajer-Peseschkian, T., Osmanovic, A., Klopstock, T., Dorst, J., Ludolph, A.C., Schöffski, O., Boentert, M., Hagenacker, T., Deschauer, M., Lingor, P., Petri, S., Schreiber-Katz, O., 2023. Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany. Journal of neurology 270, 4922–4938. https://doi.org/10.1007/s00415-023-11811-1. Pubmed 37356024
- Herrmann, A., Meyer, A.K., Braunschweig, L., Wagenfuehr, L., Markert, F., Kolitsch, D., Vukicevic, V., Hartmann, C., Siebert, M., Ehrhart-Bornstein, M., Hermann, A., Storch, A., 2023. Notch is Not Involved in Physioxia-Mediated Stem Cell Maintenance in Midbrain Neural Stem Cells. International journal of stem cells 16, 293–303. https://doi.org/10.15283/ijsc22168. Pubmed 37105558
- Kandhavivorn, W., Glaß, H., Herrmannsdörfer, T., Böckers, T.M., Uhlarz, M., Gronemann, J., Funk, R.H.W., Pietzsch, J., Pal, A., Hermann, A., 2023. Restoring Axonal Organelle Motility and Regeneration in Cultured FUS-ALS Motoneurons through Magnetic Field Stimulation Suggests an Alternative Therapeutic Approach. Cells 12.https://doi.org/10.3390/cells12111502. Pubmed 37296623
- Lukas, J., 2023. State-of-the-Art Molecular Genetics and Genomics in Germany. International journal of molecular sciences 24. https://doi.org/10.3390/ijms241814096. Pubmed 37762398
- Malnar Črnigoj, M., Čerček, U., Yin, X., Ho, M.T., Repic Lampret, B., Neumann, M., Hermann, A., Rouleau, G., Suter, B., Mayr, M., Rogelj, B., 2023. Phenylalanine-tRNA aminoacylation is compromised by ALS/FTD-associated C9orf72 C4G2 repeat RNA. Nature communications 14, 5764. https://doi.org/10.1038/s41467-023-41511-3. Pubmed 37717009
- Massih, B., Veh, A., Schenke, M., Mungwa, S., Seeger, B., Selvaraj, B.T., Chandran, S., Reinhardt, P., Sterneckert, J., Hermann, A., Sendtner, M., Lüningschrör, P., 2023. A 3D cell culture system for bioengineering human neuromuscular junctions to model ALS. Frontiers in cell and developmental biology 11, 996952. https://doi.org/10.3389/fcell.2023.996952. Pubmed 36866276
- Meyer, T., Salkic, E., Grehl, T., Weyen, U., Kettemann, D., Weydt, P., Günther, R., Lingor, P., Koch, J.C., Petri, S., Hermann, A., Prudlo, J., Großkreutz, J., Baum, P., Boentert, M., Metelmann, M., Norden, J., Cordts, I., Weishaupt, J.H., Dorst, J., Ludolph, A., Koc, Y., Walter, B., Münch, C., Spittel, S., Dreger, M., Maier, A., Körtvélyessy, P., 2023. Performance of serum neurofilament light chain in a wide spectrum of clinical courses of amyotrophic lateral sclerosis-a cross-sectional multicenter study. European journal of neurology 30, 1600–1610. https://doi.org/10.1111/ene.15773. Pubmed 36899448
- Monticelli, M., Hay Mele, B., Allocca, M., Liguori, L., Lukas, J., Monti, M.C., Morretta, E., Cubellis, M.V., Andreotti, G., 2023. Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease. International journal of molecular sciences 24. https://doi.org/10.3390/ijms24021095. Pubmed 36674610
- Peikert, K., Danek, A., 2023. VPS13 Forum Proceedings: XK, XK-Related and VPS13 Proteins in Membrane Lipid Dynamics. Contact (Thousand Oaks (Ventura County, Calif.)) 6, 25152564231156994. https://doi.org/10.1177/25152564231156994. Pubmed 37366410
- Peikert, K., Dobson-Stone, C., Rampoldi, L., Miltenberger-Miltenyi, G., Neiman, A., Camilli, P. de, Hermann, A., Walker, R.H., Monaco, A.P., Danek, A., 1993. GeneReviews®: VPS13A Disease. Seattle (WA). Pubmed 20301561
- Pereira, S.L., Grossmann, D., Delcambre, S., Hermann, A., Grünewald, A., 2023. Novel insights into Parkin-mediated mitochondrial dysfunction and neuroinflammation in Parkinson‘s disease. Current opinion in neurobiology 80, 102720. https://doi.org/10.1016/j.conb.2023.102720. Pubmed 37023495
- Petri, S., Grehl, T., Grosskreutz, J., Hecht, M., Hermann, A., Jesse, S., Lingor, P., Löscher, W., Maier, A., Schoser, B., Weber, M., Ludolph, A.C., 2023. Guideline „Motor neuron diseases“ of the German Society of Neurology (Deutsche Gesellschaft für Neurologie). Neurological research and practice 5, 25. . https://doi.org/10.1186/s42466-023-00251-x. Pubmed 37316950
- Ruf, W.P., Boros, M., Freischmidt, A., Brenner, D., Grozdanov, V., Meirelles, J. de, Meyer, T., Grehl, T., Petri, S., Grosskreutz, J., Weyen, U., Guenther, R., Regensburger, M., Hagenacker, T., Koch, J.C., Emmer, A., Roediger, A., Steinbach, R., Wolf, J., Weishaupt, J.H., Lingor, P., Deschauer, M., Cordts, I., Klopstock, T., Reilich, P., Schoeberl, F., Schrank, B., Zeller, D., Hermann, A., Knehr, A., Günther, K., Dorst, J., Schuster, J., Siebert, R., Ludolph, A.C., Müller, K., 2023. Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis. Brain communications 5, fcad152. . https://doi.org/10.1093/braincomms/fcad152. Pubmed 37223130
- Szewczyk, B., Günther, R., Japtok, J., Frech, M.J., Naumann, M., Lee, H.O., Hermann, A., 2023. FUS ALS neurons activate major stress pathways and reduce translation as an early protective mechanism against neurodegeneration. Cell reports 42, 112025. https://doi.org/10.1016/j.celrep.2023.112025. Pubmed 36696267
- Tröger, J., Baltes, J., Baykara, E., Kasper, E., Kring, M., Linz, N., Robin, J., Schäfer, S., Schneider, A., Hermann, A., 2023. PROSA-a multicenter prospective observational study to develop low-burden digital speech biomarkers in ALS and FTD. Amyotrophic lateral sclerosis & frontotemporal degeneration, 1–10. https://doi.org/10.1080/21678421.2023.2239312. Pubmed 37516990
- Vidovic, M., Müschen, L.H., Brakemeier, S., Machetanz, G., Naumann, M., Castro-Gomez, S., 2023. Current State and Future Directions in the Diagnosis of Amyotrophic Lateral Sclerosis. Cells 12. https://doi.org/10.3390/cells12050736. Pubmed 36899872
- Walker, R.H., Peikert, K., Jung, H.H., Hermann, A., Danek, A., 2023. Neuroacanthocytosis Syndromes: The Clinical Perspective. Contact 6, 25152564231210339. https://doi.org/10.1177/25152564231210339. Pubmed 38090146
- Walter, U., Sobiella, G., Prudlo, J., Batchakaschvili, M., Böhmert, J., Storch, A., Hermann, A., 2023. Ultrasonic detection of vagus, accessory, and phrenic nerve atrophy in amyotrophic lateral sclerosis: Relation to impairment and mortality. European journal of neurology. https://doi.org/10.1111/ene.16127. Pubmed 37933884
- Yeh, Y.-T., Sona, C., Yan, X., Li, Y., Pathak, A., McDermott, M.I., Xie, Z., Liu, L., Arunagiri, A., Wang, Y., Cazenave-Gassiot, A., Ghosh, A., Meyenn, F. von, Kumarasamy, S., Najjar, S.M., Jia, S., Wenk, M.R., Traynor-Kaplan, A., Arvan, P., Barg, S., Bankaitis, V.A., Poy, M.N., 2023. Restoration of PITPNA in Type 2 diabetic human islets reverses pancreatic beta-cell dysfunction. Nature communications 14, 4250. https://doi.org/10.1038/s41467-023-39978-1. Pubmed 37460527
- Zhu, X., Huang, B., Zhao, F., Lian, J., He, L., Zhang, Y., Ji, L., Zhang, J., Yan, X., Zeng, T., Ma, C., Liang, Y., Zhang, C., Lin, J., 2023. p38-mediated FOXN3 phosphorylation modulates lung inflammation and injury through the NF-κB signaling pathway. Nucleic acids research 51, 2195–2214. https://doi.org/10.1093/nar/gkad057. Pubmed 36794705
- Zimyanin, V.L., Pielka, A.-M., Glaß, H., Japtok, J., Großmann, D., Martin, M., Deussen, A., Szewczyk, B., Deppmann, C., Zunder, E., Andersen, P.M., Boeckers, T.M., Sterneckert, J., Redemann, S., Storch, A., Hermann, A., 2023. Live Cell Imaging of ATP Levels Reveals Metabolic Compartmentalization within Motoneurons and Early Metabolic Changes in FUS ALS Motoneurons. Cells 12. https://doi.org/10.3390/cells12101352. Pubmed 37408187
2022
Hermann A, Tarakdjian GN, Temp AGM, Kasper E, Machts J, Kaufmann J, Vielhaber S, Prudlo J, Cole JH, Teipel S, Dyrba M.
Cognitive and behavioral but not motor impairment increases brain age in amyotrophic lateral sclerosis
Brain Communications, fcac239
Dash BP, Freischmidt A, Weishaupt JH, Hermann A.
Downstream Effects of Mutations in SOD1 and TARDBP Converge on Gene Expression Impairment in Patient-Derived Motor Neurons.
Int J Mol Sci. 2022 Aug 25;23(17):9652.
Günther R, Pal A, Williams C, Zimyanin VL, Liehr M, von Neubeck C, Krause M, Parab MG, Petri S, Kalmbach N, Marklund SL, Sterneckert J, Munch Andersen P, Wegner F, Gilthorpe JD, Hermann A.
Alteration of Mitochondrial Integrity as Upstream Event in the Pathophysiology of SOD1-ALS.
Cells. 2022 Apr 6;11(7):1246. IF 7.2
Freigang M, Steinacker P, Wurster CD, Schreiber-Katz O, Osmanovic A, Petri S, Koch JC, Rostásy K, Huss A, Tumani H, Winter B, Falkenburger B, Ludolph AC, Otto M, Hermann A*, Günther R*.
Glial fibrillary acidic protein in cerebrospinal fluid of patients with spinal muscular atrophy.
Ann Clin Transl Neurol. 2022 Sep;9(9):1437-1448. *contributed equally
Aust E, Linse K, Graupner ST, Joos M, Liebscher D, Grosskreutz J, Prudlo J, Meyer T, Günther R, Pannasch S, Hermann A.
Quality of life and mental health in the locked-in-state-differences between patients with amyotrophic lateral sclerosis and their next of kin.
J Neurol. 2022 Jul 6. doi: 10.1007/s00415-022-11238-0.
Hermann W, Langner S, Freigang M, Fischer S, Storch A, Günther R, Hermann A.
Affection of Respiratory Muscles in ALS and SMA.
J Clin Med. 2022 Feb 22;11(5):1163
Schmitz-Peiffer H, Aust E, Linse K, Rueger W, Joos M, Löhle M, Storch A, Hermann A.
Motor-Independent Cognitive Testing in Motor Degenerative Diseases.
J Clin Med. 2022 Feb 3;11(3):814.
Linse K, Aust E, Günther R, Hermann A.
Caregivers' View of Socio-Medical Care in the Terminal Phase of Amyotrophic Lateral Sclerosis-How Can We Improve Holistic Care in ALS?
J Clin Med. 2022 Jan 4;11(1):254.
Jin M, Akgün K, Ziemssen T, Kipp M, Günther R, Hermann A.
Interleukin-17 and Th17 Lymphocytes Directly Impair Motoneuron Survival of Wildtype and FUS-ALS Mutant Human iPSCs.
Int J Mol Sci. 2021 Jul 27;22(15):8042.
Peikert K, Glaß H, Federti E, Matte A, Pelzl L, Akgün K, Ziemssen T, Ordemann R, Lang F, Patients TNFTRFN, De Franceschi L, Hermann A.
Targeting Lyn Kinase in Chorea-Acanthocytosis: A Translational Treatment Approach in a Rare Disease.
J Pers Med. 2021 May 10;11(5):392. (IF: 4.945)
Freigang M, Steinacker P, Wurster CD, Schreiber-Katz O, Osmanovic A, Petri S, Koch JC, Rostásy K, Falkenburger B, Ludolph AC, Otto M, Hermann A*, Günther R*.
Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy.
Orphanet J Rare Dis. 2021 Jul 28;16(1):330. doi: 10.1186/s13023-021-01961-8. *contributed equally
Jäger K, Mensch J, Grimmig ME, Neuner B, Gorzelniak K, Türkmen S, Demuth I, Hartmann A, Hartmann C, Wittig F, Sporbert A, Hermann A, Fuellen G, Möller S, Walter M.
A conserved long-distance telomeric silencing mechanism suppresses mTOR signaling in aging human fibroblasts.
Sci Adv. 2022 Aug 19;8(33):eabk2814.
Temp AGM, Kasper E, Machts J, Vielhaber S, Teipel S, Hermann A,Prudlo J.
Cognitive reserve protects ALS-typical cognitive domains: A longitudinal study.
Ann Clin Transl Neurol. 2022 Aug;9(8):1212-1223..
Efendic F, Völkner C, Krohn S, Murua Escobar H, Venkateswaran S, Bennett S, Hermann A,Frech MJ.
Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg.
Stem Cell Res. 2022 Aug;63:102863.
Renger R, Morin JA, Lemaitre R, Ruer-Gruss M, Jülicher F, Hermann A, Grill SW.
Co-condensation of proteins with single- and double-stranded DNA.
Proc Natl Acad Sci U S A. 2022 Mar 8;119(10):e2107871119.
Feifei L, Richter A, Runge J, Keiler J, Hermann A, Kipp M, Joost S.
Spontaneous Hind Limb Paralysis Due to Acute Precursor B Cell Leukemia in RAG1-deficient Mice.
J Mol Neurosci. 2022 May 18. doi: 10.1007/s12031-022-02025-7.
Recktenwald SM, Lopes MGM, Peter S, Hof S, Simionato G, Peikert K, Hermann A, Danek A, van Bentum K, Eichler H, Wagner C, Quint S, Kaestner L.
Erysense, a Lab-on-a-Chip-Based Point-of-Care Device to Evaluate Red Blood Cell Flow Properties With Multiple Clinical Applications
Front Physiol. 2022 Apr 27;13:884690.
Reichel F, Kräter M, Peikert K, Glaß H, Rosendahl P, Herbig M, Rivera Prieto A, Kihm A, Bosman G, Kaestner L, Hermann A, Guck J.
Changes in Blood Cell Deformability in Chorea-Acanthocytosis and Effects of Treatment With Dasatinib or Lithium.
Front Physiol. 2022 Apr 4;13:852946.
Fink A, Hermann A, Günster C, Doblhammer G.
Influenza Vaccination in Patients With Dementia and Parkinson's Disease.
Dtsch Arztebl Int. 2022 Feb 4;119(5):66-67.
Temp AGM, Naumann M, Hermann A,Glaß H.
Applied Bayesian Approaches for Research in Motor Neuron Disease.
Front Neurol. 2022 Mar 24;13:796777.
Witzel S, Maier A, Steinbach R, Grosskreutz J, Koch JC, Sarikidi A, Petri S, Günther R, Wolf J, Hermann A,Prudlo J, Cordts I, Lingor P, Löscher WN, Kohl Z, Hagenacker T, Ruckes C, Koch B, Spittel S, Günther K, Michels S, Dorst J, Meyer T, Ludolph AC; German Motor Neuron Disease Network (MND-NET).
Safety and Effectiveness of Long-term Intravenous Administration of Edaravone for Treatment of Patients With Amyotrophic Lateral Sclerosis.
JAMA Neurol. 2022 Jan 10. doi: 10.1001/jamaneurol.2021.4893.
Pantoom S, Hules L, Schöll C, Petrosyan A, Monticelli M, Pospech J, Cubellis MV, Hermann A, Lukas J.
Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol.
Int J Mol Sci. 2022 Mar 24;23(7):3536.
Schlüßler R, Kim K, Nötzel M, Taubenberger A, Abuhattum S, Beck T, Müller P, Maharana S, Cojoc G, Girardo S, Hermann A, Alberti S, Guck J.
Correlative all-optical quantification of mass density and mechanics of sub-cellular compartments with fluorescence specificity.
Elife. 2022 Jan 10;11:e68490. doi: 10.7554/eLife.68490.
Liedtke M, Völkner C, Hermann A, Frech MJ.
Impact of Organelle Transport Deficits on Mitophagy and Autophagy in Niemann-Pick Disease Type C.
Cells. 2022 Feb 1;11(3):507.
Völkner C, Pantoom S, Liedtke M, Lukas J, Hermann A, Frech MJ.
Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems.
Cells. 2022 Jan 18;11(3):319.
Löhle M, Mangone G, Hermann W, Hausbrand D, Wolz M, Mende J, Reichmann H, Hermann A, Corvol JC, Storch A.
Functional MAOB Gene Intron 13 Polymorphism Predicts Dyskinesia in Parkinson's Disease.
Parkinsons Dis. 2022 Jan 20;2022:5597503.
Federti E, Matte A, Riccardi V, Peikert K, Alper SL, Danek A, Walker RH, Siciliano A, Iatcenko I, Hermann A, De Franceschi L.
Adaptative Up-Regulation of PRX2 and PRX5 Expression Characterizes Brain from a Mouse Model of Chorea-Acanthocytosis.
Antioxidants (Basel). 2021 Dec 29;11(1):76.
Binz C, Osmanovic A, Thomas NH, Stolte B, Freigang M, Cordts I, Griep R, Uzelac Z, Wurster CD, Kamm C, Siegler HA, Wieselmann G, Hermann A, Lingor P, Deschauer M, Ludolph AC, Meyer T, Günther R, Hagenacker T, Petri S, Schreiber-Katz O.
Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy.
Ann Clin Transl Neurol. 2022 Mar;9(3):351-362.
Hartung T, Rhein M, Kalmbach N, Thau-Habermann N, Naujock M, Müschen L, Frieling H, Sterneckert J, Hermann A, Wegner F, Petri S.
Methylation and Expression of Mutant FUS in Motor Neurons Differentiated From Induced Pluripotent Stem Cells From ALS Patients.
Front Cell Dev Biol. 2021 Nov 19;9:774751. doi: 10.3389/fcell.2021.774751.
Temp AGM, Kasper E, Vielhaber S, Machts J, Hermann A, Teipel S, Prudlo J.
Loss of "insight" into behavioral changes in ALS: Differences across cognitive profiles.
Brain Behav. 2021 Dec 2:e2439. doi: 10.1002/brb3.2439.
Pantoom S, Pomorski A, Huth K,Hund C,Petters J, Krężel A, Hermann A, Lukas J.
Direct Interaction of ATP7B and LC3B Proteins Suggests a Cooperative Role of Copper Transportation and Autophagy.
Cells. 2021 Nov 10;10(11):3118. doi: 10.3390/cells10113118.
Peikert K, Hermann A, Danek A.
XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease.
Transfus Med Hemother. 2022 Jan 25;49(1):4-12.
Verma S, Pantoom S, Petters J, Pandey AK, Hermann A, Lukas J.
A molecular genetics view on Mucopolysaccharidosis Type II.
Mutat Res Rev Mutat Res. 2021 Jul-Dec;788:108392. doi: 10.1016/j.mrrev.2021.108392.
Hartmann A, Hartmann C, Secci R, Hermann A, Fuellen G, Walter M.
Ranking Biomarkers of Aging by Citation Profiling and Effort Scoring.
Front Genet. 2021 May 21;12:686320.
2021
Jung HH, Danek A, Walker RH, Frey BM, Peikert K. McLeod Neuroacanthocytosis Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. 2004 Dec 3 [updated 2021 Sep 16].
Jin M, Akgün K, Ziemssen T, Kipp M, Günther R, Hermann A.
Interleukin-17 and Th17 Lymphocytes Directly Impair Motoneuron Survival of Wildtype and FUS-ALS
Mutant Human iPSCs. Int J Mol Sci. 2021 Jul 27;22(15):8042. doi: 10.3390/ijms22158042. PMID: 34360808. Free Full Text
Quick S, Heidrich FM, Winkler MV, Winkler AH, Ibrahim K, Linke A, Speiser U, Grabmaier U, Buhmann C, Marxreiter F, Saft C, Danek A, Hermann A, Peikert K.
Cardiac manifestation is evident in chorea-acanthocytosis but different from McLeod syndrome.
Parkinsonism Relat Disord. 2021 Jul;88:90-95. doi: 10.1016/j.parkreldis.2021.05.015. Epub 2021 May 24. PMID: 34153885.
Hartmann A, Hartmann C, Secci R, Hermann A, Fuellen G, Walter M.
Ranking Biomarkers of Aging by Citation Profiling and Effort Scoring.
Front Genet. 2021 May 21;12:686320. doi: 10.3389/fgene.2021.686320. PMID: 34093670; PMCID: PMC8176216. Free Full Text
Darras A, Peikert K, Rabe A, Yaya F, Simionato G, John T, Dasanna AK, Buvalyy S, Geisel J, Hermann A, Fedosov DA, Danek A, Wagner C, Kaestner L. Acanthocyte Sedimentation Rate as a Diagnostic Biomarker for Neuroacanthocytosis Syndromes: Experimental Evidence and Physical Justification.
Cells. April 2021; 10(4):788. doi: 10.3390/cells10040788 Free Full Text
Peikert K, Glaß H, Federti E, Matte A, Pelzl L, Akgün K, Ziemssen T, Ordemann R, Lang F, The Network for Translational Research for
Neuroacanthocytosis Patients, De Franceschi L, Hermann A.
Targeting Lyn Kinase in Chorea-Acanthocytosis: A Translational Treatment Approach in a Rare Disease.
J. Pers. Med. 2021, 11, 392. doi: 10.3390/jpm11050392 Free Full Text
Peikert K, Federti E, Matte A, Constantin G, Pietronigro EC, Fabene PF, Defilippi P, Turco E, Del Gallo F, Pucci P, Amoresano A, Illiano A, Cozzolino F,
Monti M, Garello F, Terreno E, Alper SL, Glaß H, Pelzl L, Akgün K, Ziemssen T, Ordemann R, Lang F, Brunati AM, Tibaldi E, Andolfo I, Iolascon A, Bertini G,
Buffelli M, Zancanaro C, Lorenzetto E, Siciliano A, Bonifacio M, Danek A, Walker RH, Hermann A, De Franceschi L.
Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis.
Acta Neuropathol Commun. 2021 May 3;9(1):81. doi: 10.1186/s40478-021-01181-y. PMID: 33941276; PMCID: PMC8091687. Free Full Text
Rabe A, Kihm A, Darras A, Peikert K, Simionato G, Dasanna AK, Glaß H, Geisel J, Quint S, Danek A, Wagner C, Fedosov DA, Hermann A, Kaestner L.
The Erythrocyte Sedimentation Rate and Its Relation to Cell Shape and Rigidity of Red Blood Cells from Chorea-Acanthocytosis Patients in an Off-Label Treatment with Dasatinib.
Biomolecules 2021, 11, 727. doi: 10.3390/biom11050727 Free Full Text
Tripathi P, Guo H, Dreser A, Yamoah A, Sechi A, Jesse CM, Katona I, Doukas P, Nikolin S, Ernst S, Aronica E, Glaß H, Hermann A, Steinbusch H, Feller AC, Bergmann M, Jaarsma D, Weis J, Goswami A.
Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation.
Cell Death Dis. 2021 May 10;12(5):466. doi: 10.1038/s41419-021-03710-y. PMID: 33972508; PMCID: PMC8110809. Free Full Text
Freischmidt A, Goswami A, Limm K, Zimyanin VL, Demestre M, Glaß H, Holzmann K, Helferich AM, Brockmann SJ, Tripathi P, Yamoah A, Poser I, Oefner PJ, Böckers TM, Aronica E, Ludolph AC, Andersen PM, Hermann A, Weis J, Reinders J, Danzer KM, Weishaupt JH.
A serum microRNA sequence reveals fragile X protein pathology in amyotrophic lateral sclerosis.
Brain. 2021 May 7;144(4):1214-1229. doi:10.1093/brain/awab018. PMID: 33871026; PMCID: PMC8105042. Free Full Text
Peters S, Kuespert S, Wirkert E, Heydn R, Jurek B, Johannesen S, Hsam O, Korte S, Ludwig FT, Mecklenburg L, Mrowetz H, Altendorfer B, Poupardin R, Petri S, Thal DR, Hermann A, Weishaupt JH, Weis J, Aksoylu IS, Lewandowski SA, Aigner L, Bruun TH, Bogdahn U.
Reconditioning the Neurogenic Niche of Adult Non-human Primates by Antisense Oligonucleotide-Mediated Attenuation of TGFβ Signaling.
Neurotherapeutics. 2021 Apr 15. doi: 10.1007/s13311-021-01045-2. Epub ahead of print. PMID: 33860461. Free Full Text
Kutschenko A, Staege S, Grütz K, Glaß H, Kalmbach N, Gschwendtberger T, Henkel LM, Heine J, Grünewald A, Hermann A, Seibler P, Wegner F.
Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons.
Int J Mol Sci. 2021 Mar 30;22(7):3565. doi: 10.3390/ijms22073565. PMID: 33808167; PMCID: PMC8037318. Free Full Text
Hölzer HT, Boschann F, Hennermann JB, Hahn G, Hermann A, von der Hagen M, Tüngler V.
Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis.
J Neurol. 2021 Mar 9. doi: 10.1007/s00415-021-10492-y. Epub ahead of print. PMID: 33751187. Free Full Text
Seifert A, Drechsler H, Japtok J, Korten T, Diez S, Hermann A.
The ALS-Associated FUS (P525L) Variant Does Not Directly Interfere with Microtubule-Dependent Kinesin-1 Motility.
Int J Mol Sci. 2021 Feb 28;22(5):2422. doi:10.3390/ijms22052422. PMID: 33670886; PMCID: PMC7957795. Free Full Text
Pal A, Kretner B, Abo-Rady M, Glaβ H, Dash BP, Naumann M, Japtok J, Kreiter N, Dhingra A, Heutink P, Böckers TM, Günther R, Sterneckert J, Hermann A.
Concomitant gain and loss of function pathomechanisms in C9ORF72 amyotrophic lateral sclerosis.
Life Sci Alliance. 2021 Feb 22;4(4):e202000764. doi:10.26508/lsa.202000764. PMID: 33619157; PMCID: PMC7918691. Free Full Text
Szewczyk B, Günther R, Sterneckert J, Petri S, Wegner F, Hermann A.
FUS Is Not Mislocalized in Spinal Motor Neurons Derived From Human Induced Pluripotent Stem Cells of Main Non-FUS ALS Subtypes.
J Neuropathol Exp Neurol. 2021 Jan 15:nlaa154. doi: 10.1093/jnen/nlaa154. Epub ahead of print. PMID: 33448295. Free Full Text
Völkner C, Liedtke M, Hermann A, Frech MJ.
Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1.
Int J Mol Sci. 2021 Jan 12;22(2):710. doi: 10.3390/ijms22020710. PMID: 33445799; PMCID: PMC7828283. Free Full Text
Loewenbrück KF, Werner R, Günther R, Dittrich M, Klingenberger R, Reichmann H, Storch A, Hermann A.
One nerve suffices: A clinically guided nerve ultrasound protocol for the differentiation of multifocal motor neuropathy (MMN) and amyotrophic lateral sclerosis (ALS).
J Neurol. 2020 Dec 23. doi: 10.1007/s00415-020-10323-6. Epub ahead of print. PMID: 33355881. Free Full Text
Beyer L, Günther R, Koch JC, Klebe S, Hagenacker T, Lingor P, Biesalski AS, Hermann A, Nabers A, Gold R, Tönges L, Gerwert K.
TDP-43 as structure-based biomarker in amyotrophic lateral sclerosis.
Ann Clin Transl Neurol. 2021 Jan;8(1):271-277. doi: 10.1002/acn3.51256. Epub 2020 Dec 2. PMID: 33263951;
PMCID: PMC7818221. Free Full Text
2020
Petters J, Völkner C, Krohn S, Murua Escobar H, Bullerdiek J, Reuner U, Frech MJ, Hermann A, Lukas J.
Generation of two induced pluripotent stem cell lines from a female adult homozygous for the Wilson disease associated ATP7B variant p.H1069Q (AKOSi008-A) and a healthy control (AKOSi009-A).
Stem Cell Res. 2020 Nov 5;49:102079. doi: 10.1016/j.scr.2020.102079. Epub ahead of print. PMID:33197697. Free Full Text
Völkner C, Liedtke M, Petters J, Huth K, Knuebel G, Murua Escobar H, Bullerdiek J, Lukas J, Hermann A, Frech MJ.
Generation of an iPSC line (AKOSi006-A) from fibroblasts of a NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system. Stem Cell Res. 2020 Oct 16;49:102056. doi:10.1016/j.scr.2020.102056. Epub ahead of print. PMID: 33099109. Free Full Text
Jürs AV, Völkner C, Liedtke M, Huth K, Lukas J, Hermann A, Frech MJ.
Oxidative Stress and Alterations in the Antioxidative Defense System in Neuronal Cells Derived from NPC1 Patient-Specific Induced Pluripotent Stem Cells.
Int J Mol Sci. 2020 Oct 16;21(20):7667. doi: 10.3390/ijms21207667. PMID: 33081384; PMCID: PMC7593914. Free Full Text
Fauser M, Weselek G, Hauptmann C, Markert F, Gerlach M, Hermann A, Storch A.
Catecholaminergic Innervation of Periventricular Neurogenic Regions of the Developing Mouse Brain.
Front Neuroanat. 2020 Sep 23;14:558435. doi: 10.3389/fnana.2020.558435. PMID: 33071762; PMCID: PMC7538673. Free Full Text
Dash BP, Naumann M, Sterneckert J, Hermann A.
Genome Wide Analysis Points towards Subtype-Specific Diseases in Different Genetic Forms of Amyotrophic Lateral Sclerosis.
Int J Mol Sci. 2020 Sep 21;21(18):6938. doi: 10.3390/ijms21186938. PMID: 32967368; PMCID: PMC7555318. Free Full Text
Peikert K, Akgün K, Beste C, Ziemssen T, Buhmann C, Danek A, Hermann A.
Neurofilament light chain in serum is significantly increased in chorea-acanthocytosis.
Parkinsonism Relat Disord. 2020 Sep 7;80:28-31. doi: 10.1016/j.parkreldis.2020.09.004. Epub ahead of print. PMID: 32932025.
Dorst J, Schuster J, Dreyhaupt J, Witzel S, Weishaupt JH, Kassubek J, Weiland U, Petri S, Meyer T, Grehl T, Hermann A, Jordan B, Grosskreutz J, Zeller D, Boentert M, Schrank B, Prudlo J, Winkler AS, Gorbulev S, Roselli F, Dupuis L, Otto M, Ludolph AC.
Effect of high-caloric nutrition on serum neurofilament light chain levels in amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry. 2020 Sep;91(9):1007-1009. doi: 10.1136/jnnp-2020-323372. Epub 2020 Aug 11. PMID: 32788256.
Naumann M, Laubenthal J, Hermann A.
Fused in sarcoma-amyotrophic lateral sclerosis as a novel member of DNA single strand break diseases with pure
neurological phenotypes.
Neural Regen Res. 2021 Jan;16(1):110-112. doi: 10.4103/1673-5374.286963 PMID: 32788458. Free Full Text
Frank A, Peikert K, Linn J, Brandt MD, Hermann A.
MDS criteria for the diagnosis of progressive supranuclear palsy overemphasize Richardson syndrome.
Ann Clin Transl Neurol. 2020 Jul 31. doi: 10.1002/acn3.51065. Epub ahead of print. PMID: 32735745. Free Full Text
Gläser A, Hammerl F, Gräler MH, Coldewey SM, Völkner C, Frech MJ, Yang F, Luo J, Tönnies E, von Bohlen Und Halbach O, Brandt N, Heimes D, Neßlauer AM, Korenke GC, Owczarek-Lipska M, Neidhardt J, Rolfs A, Wree A, Witt M, Bräuer AU.
Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.
Int J Mol Sci. 2020 Jun 24;21(12):4502. doi: 10.3390/ijms21124502. PMID: 32599915; PMCID: PMC7352403. Free Full Text
Berenguer-Escuder C, Grossmann D, Antony P, Arena G, Wasner K, Massart F, Jarazo J, Walter J, Schwamborn JC, Grünewald A, Krüger R.
Impaired mitochondrial-endoplasmic reticulum interaction and mitophagy in Miro1-mutant neurons in Parkinson's disease. Hum Mol Genet. 2020 May 28;29(8):1353-1364. doi: 10.1093/hmg/ddaa066. PMID: 32280985; PMCID: PMC7254851. Free Full Text
Rach C, Lukas J, Müller R, Sendler M, Simon P, Salloch S.
Involving Patient Groups in Drug Research: A Systematic Review of Reasons.
Patient Prefer Adherence. 2020 Mar 12;14:587-597. doi: 10.2147/PPA.S232499. PMID: 32210544; PMCID: PMC7075437. Free Full Text
Weselek G, Keiner S, Fauser M, Wagenführ L, Müller J, Kaltschmidt B, Brandt MD, Gerlach M, Redecker C, Hermann A, Storch A.
Norepinephrine is a negative regulator of the adult periventricular neural stem cell niche.
Stem Cells. 2020 May 30. doi: 10.1002/stem.3232. Epub ahead of print. PMID: 32473039. Free Full Text
Meyer T, Kettemann D, Maier A, Grehl T, Weyen U, Grosskreutz J, Steinbach R, Norden J, George A, Hermann A, Guenther R, Petri S, Schreiber-Katz O, Dorst J, Ludolph AC, Walter B, Münch C, Spittel S.
Symptomatic pharmacotherapy in ALS: data analysis from a platform-based medication management programme.
J Neurol Neurosurg Psychiatry. 2020 Apr 21. pii: jnnp-2020-322938. doi: 10.1136/jnnp-2020-322938. [Epub ahead of print] PubMed PMID: 32317400. Free Full Text
Keller S, Polanski WH, Enzensperger C, Reichmann H, Hermann A, Gille G.
9-Methyl-β-carboline inhibits monoamine oxidase activity and stimulates the expression of neurotrophic factors by astrocytes.
J Neural Transm (Vienna). 2020 Apr 13. doi: 10.1007/s00702-020-02189-9. [Epub ahead of print] PubMed PMID:32285253. Free Full Text
Jin M, Günther R, Akgün K, Hermann A, Ziemssen T.
Peripheral proinflammatory Th1/Th17 immune cell shift is linked to disease severity in amyotrophic lateral sclerosis.
Sci Rep. 2020 Apr 3;10(1):5941. doi: 10.1038/s41598-020-62756-8. PubMed PMID: 32246039; PubMed Central PMCID: PMC7125229. Free Full Text
Hagenacker T, Wurster CD, Günther R, Schreiber-Katz O, Osmanovic A, Petri S, Weiler M, Ziegler A, Kuttler J, Koch JC, Schneider I, Wunderlich G, Schloss N, Lehmann HC, Cordts I, Deschauer M, Lingor P, Kamm C, Stolte B, Pietruck L, Totzeck A, Kizina K, Mönninghoff C, von Velsen O, Ose C, Reichmann H, Forsting M, Pechmann A, Kirschner J, Ludolph AC, Hermann A, Kleinschnitz C.
Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study.
Lancet Neurol. 2020 Apr;19(4):317-325. doi:10.1016/S1474-4422(20)30037-5. PubMed PMID: 32199097.
Glaß H, Neumann P, Pal A, Reinhardt P, Storch A, Sterneckert J, Hermann A.
Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis.
Int. J. Mol. Sci. 2020 March 5, 21(5), 1797; doi: 10.3390/ijms21051797 Free Full Text
Abo-Rady M, Kalmbach N, Pal A, Schludi C, Janosch A, Richter T, Freitag P, Bickle M, Kahlert AK, Petri S, Stefanov S, Glass H, Staege S, Just W, Bhatnagar R, Edbauer D, Hermann A, Wegner F, Sterneckert JL.
Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins.
Stem Cell Reports. 2020 Feb 5. pii: S2213-6711(20)30031-X. doi: 10.1016/j.stemcr.2020.01.010. [Epub ahead of print] PubMed PMID: 32084385. Free Full Text
Seemann S, Ernst M, Cimmaruta C, Struckmann S, Cozma C, Koczan D, Knospe AM, Haake LR, Citro V, Bräuer AU, Andreotti G, Cubellis MV, Fuellen G, Hermann A, Giese AK, Rolfs A, Lukas J.
Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease.
Biochem J. 2020 Jan 31;477(2):359-380. doi: 10.1042/BCJ20190513. PubMed PMID: 31899485. Free Full Text
Petters J, Cimmaruta C, Iwanov K, Chang ML, Völkner C, Knuebel G, Escobar HM, Frech MJ, Hermann A, Rolfs A, Lukas J.
Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson
disease.
Stem Cell Res. 2020 Jan 27;43:101708. doi: 10.1016/j.scr.2020.101708. [Epub ahead of print] PubMed PMID: 32028086.Free Full Text
Lukas J, Cimmaruta C, Liguori L, Pantoom S, Iwanov K, Petters J, Hund C, Bunschkowski M, Hermann A, Cubellis MV, Rolfs A.
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Int. J. Mol. Sci. 2020, 21(3), 956; doi: 10.3390/ijms21030956 Free Full Text
Kuta R, Larochelle N, Fernandez M, Pal A, Minotti S, Tibshirani M, St Louis K, Gentil BJ, Nalbantoglu JN, Hermann A, Durham HD.
Depending on the stress, histone deacetylase inhibitors act as heat shock protein co-inducers in motor neurons and potentiate arimoclomol, exerting neuroprotection through multiple mechanisms in ALS models.
Cell Stress Chaperones. 2020 Jan 3. doi: 10.1007/s12192-019-01064-1. [Epub ahead of print] PubMed PMID: 31900865. Free Full Text
2019
Srimasorn S, Kirsch M, Hallmeyer-Ellgner S, Lindemann D, Storch A, Hermann A.
Increased Neuronal Differentiation Efficiency in High Cell Density-Derived Induced Pluripotent Stem Cells.
Stem Cells Int. 2019 Dec 4;2019:2018784. doi: 10.1155/2019/2018784. eCollection 2019. PubMed PMID: 31871463; PubMed Central
PMCID: PMC6913159. Free Full Text
Rabenstein M, Murr N, Hermann A, Rolfs A, Frech MJ.
Alteration of GABAergic Input Precedes Neurodegeneration of Cerebellar Purkinje Cells of NPC1-Deficient Mice.
Int J Mol Sci, 2019, doi: 10.3390/ijms20246288. Free Full Text
Srimasorn S, Kirsch M, Hallmeyer-Ellgner S, Lindemann D, Storch A, Hermann A.
Increased Neuronal Differentiation Efficiency in High Cell Density-Derived Induced Pluripotent Stem Cells.
Stem Cells International, 2019, Article ID 2018784. doi: 10.1155/2019/2018784. Free Full Text
Nihei Y, Mori K, Werner G, Arzberger T, Zhou Q, Khosravi B, Japtok J, Hermann A, Sommacal A, Weber M; German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance, Kamp F, Nuscher B, Edbauer D, Haass C.
Poly-glycine-alanine exacerbates C9orf72 repeat expansion-mediated DNA damage via sequestration of phosphorylated ATM and loss of nuclear hnRNPA3.
Acta Neuropathol. 2019 Oct 23. doi: 10.1007/s00401-019-02082-0. [Epub ahead of print] PubMed PMID: 31642962. Free Full Text
Naumann M, Peikert K, Günther R, van der Kooi AJ, Aronica E, Hübers A, Danel V, Corcia P, Pan-Montojo F, Cirak S, Haliloglu G, Ludolph AC, Goswami A, Andersen PM, Prudlo J, Wegner F, Van Damme P, Weishaupt JH, Hermann A.
Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.
Ann Clin Transl Neurol. 2019 Nov 4. doi: 10.1002/acn3.50930. [Epub ahead of print] PubMed PMID: 31682085. Free Full Text
Günther R, Wurster CD, Cordts I, Koch JC, Kamm C, Petzold D, Aust E, Deschauer M, Lingor P, Ludolph AC, Hermann A.
Patient-Reported Prevalence of Non-motor Symptoms Is Low in Adult Patients Suffering From 5q Spinal Muscular Atrophy.
Front Neurol. 2019 Nov 1. doi: 0.3389/fneur.2019.01098 Free Fullt Text
Völkner C, Peter F, Liedtke M, Kronbach S, Lindner I, Murua Escobar H, Cimmaruta C, Lukas J, Hermann A, Frech MJ.
Generation of the Niemann–Pick type C2 patient-derived iPSC line AKOSi001-A.
Stem Cell Research, 2019 Oct 15, 41. doi: 10.1016/j.scr.2019.101606. Free Full Text
Feng X, Cozma C, Pantoom S, Hund C, Iwanov K, Petters J, Völkner C, Bauer C, Vogel F, Bauer P, Weiss FU, Lerch MM, Knospe AM, Hermann A, Frech MJ, Luo J, Rolfs A, Lukas J.
Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test.
Int J Mol Sci. 2019 Oct 19;20(20). pii: E5185. doi: 10.3390/ijms20205185. PMID: 31635081 Free Full Text
Suckau O, Gross I, Schrötter S, Yang F, Luo J, Wree A, Chun J, Baska D, Baumgart J, Kano K, Aoki J, Bräuer AU.
LPA(1) , LPA(2) , LPA(4) , and LPA(6) receptor expression during mouse brain development.
Dev Dyn. 2019 May;248(5):375-395. doi: 10.1002/dvdy.23. Epub 2019 Mar 27. PubMed PMID: 30847983. Free Full Text
Wurster CD, Günther R, Steinacker P, Dreyhaupt J, Wollinsky K, Uzelac Z, Witzel S, Kocak T, Winter B, Koch JC, Lingor P, Petri S, Ludolph AC, Hermann A, Otto M.
Neurochemical markers in CSF of adolescent and adult SMA patients undergoing nusinersen treatment. Ther Adv Neurol Disord. 2019 May 10;12:1756286419846058. doi: 10.1177/1756286419846058. eCollection 2019. PubMed
PMID: 31205491; PubMed Central PMCID: PMC6535708. Free Full Text
Peikert K, Naumann M, Günther R, Wegner F, Hermann A.
Off-Label Treatment of 4 Amyotrophic Lateral Sclerosis Patients With 4-Aminopyridine.
J Clin Pharmacol. 2019 Apr 30. doi: 10.1002/jcph.1437. Free Full Text
Lukas J, Hermann A, Giese AK.
Silent but significant - A synonymous SNV alters prognosis in Pompe disease. EBioMedicine. 2019 May;43:20-21. doi:10.1016/j.ebiom.2019.04.015. PubMed PMID: 30982766; PubMed
Central PMCID: PMC6562060. Free Full Text
Lukas J, Pospech J, Oppermann C, Hund C, Iwanov K, Pantoom S, Petters J, Frech M, Seemann S, Thiel FG, Modenbach JM, Bolsmann R, de Freitas Chama L, Kraatz F, El-Hage F, Gronbach M, Klein A, Müller R, Salloch S, Weiss FU, Simon P, Wagh P, Klemenz A, Krüger E, Mayerle J, Delcea M, Kragl U, Beller M, Rolfs A, Lerch MM, Sendler M.
Role of endoplasmic reticulum stress and protein misfolding in disorders of the liver and pancreas.
Advances in Medical Sciences, Epub 2019 Apr 09; doi: 10.1016/j.advms.2019.03.004
Lingor P, Weber M, Camu W, Friede T, Hilgers R, Leha A, Neuwirth C, Günther R, Benatar M, Kuzma-Kozakiewicz M, Bidner H, Blankenstein C, Frontini R, Ludolph AC, Koch JC and the ROCK-ALS Investigators
ROCK-ALS: Protocol for a Randomized, Placebo-Controlled, Double-Blind Phase IIa Trial of Safety, Tolerability and Efficacy of the Rho Kinase (ROCK) Inhibitor Fasudil in Amyotrophic Lateral Sclerosis.
Front Neurol 2019 Mar 27. doi: 10.3389/fneur.2019.00293 Free Full Text
Dorst J, Chen L, Rosenbohm A,Dreyhaupt J, Hübers A, Schuster J, Weishaupt JH, Kassubek J, Gess B, Meyer T, Weyen U, Hermann A, Winkler J, Grehl T, Hagenacker T, Lingor P, Koch JC, Sperfeld A,
Petri S, Großkreutz J, Metelmann M, Wolf J, Winkler AS, Klopstock T, Boentert M, Johannesen S, Storch A, Schrank B, Zeller D, Liu X, Tang L, Fan DS, Ludolph AC.
Prognostic factors in ALS: a comparison between Germany and China.
Journal of Neurology 2019 Mar 19 doi: 10.1007/s00415-019-09290-4 Free Full Text
Yang F, Guan Y, Feng X, Rolfs A, Schlüter H, Luo J.
Proteomics of the corpus callosum to identify novel factors involved in hypomyelinated Niemann-Pick Type C disease mice.
Mol Brain. 2019 Mar 11;12(1):17. doi: 10.1186/s13041-019-0440-9. Free Full Text
Suckau O, Gross I, Schrötter S, Yang F, Luo J, Wree A, Chun J, Baska D, Baumgart J, Kano K, Aoki J, Bräuer AU.
LPA1 , LPA2 , LPA4 , and LPA6 receptor expression during mouse brain development.
Dev Dyn. 2019 Mar 8. doi: 10.1002/dvdy.23.
Peikert K, Gerber J, Winzer S, Schäfer J, Reichmann H, Hermann A.
Palatal Tremor with Progressive Ataxia Secondary to A Dural Arteriovenous Fistula.
Movement Disorders Clinical Practice. 2019 Mar 18. doi: 10.1002/mdc3.12750 Free Full Text
Martinez-Macias MI, Moore D AQ, Green RL, Gomez-Herreros F, Naumann M, Hermann A, Van Damme P, Hafezparast M, Caldecott KW.
FUS (fused in sarcoma) is a component of the cellular response to topoisomerase I–induced DNA breakage and transcriptional stress. Life Science Alliance. 2019 Feb 26. doi: 10.26508/lsa.201800222 Free Full Text
Winter B, Guenther R, Ludolph AC, Hermann A, Otto M, Wurster CD.
Neurofilaments and tau in CSF in an infant with SMA type 1 treated with nusinersen.
JNNP 2019 doi: 10.1136/jnnp-2018-320033
Walter MC, Dräger B, Günther R, Hermann A, Hagenacker T, Kleinschnitz C, Löscher W, Meyer T, Schrank B, Schwersenz I, Wurster CD, Ludolph AC, Kirschner J.
Treatment evaluation in patients with 5q-associated spinal muscular atrophy : Real-world experience.
Nervenarzt. 2019 Jan 7. doi: 10.1007/s00115-018-0653-7
2018
Günther R, Neuwirth C, Koch JC, Lingor P, Braun N, Untucht R, Petzold D, Weber M, Hermann A.
Motor Unit Number Index (MUNIX) of hand muscles is a disease biomarker for adult spinal muscular atrophy.
Clin Neurophysiol. 2018 Nov 24. pii: S1388-2457(18)31356-7.
Pal A, Glaß H, Naumann M, Kreiter N, Japtok J, Sczech R, Hermann A. High content organelle trafficking enables disease state profiling as powerful tool for disease modelling.Sci Data. 2018 Nov 13;5:180241. doi: 10.1038/sdata.2018.241.
Rabenstein M, Peter F, Rolfs A, Frech MJ.
Impact of Reduced Cerebellar EAAT Expression on Purkinje Cell Firing Pattern of NPC1-deficient Mice.
Sci Rep. 2018 Feb 20;8(1):3318. doi: 10.1038/s41598-018-21805-z.
Lenders M, Neußer LP, Rudnicki M, Nordbeck P, Canaan-Kühl S, Nowak A, Cybulla M, Schmitz B, Lukas J, Wanner C, Brand SM, Brand E.
Dose-Dependent Effect of Enzyme Replacement Therapy on Neutralizing Antidrug Antibody Titers and Clinical Outcome in Patients with Fabry Disease.
J Am Soc Nephrol. 2018 Dec;29(12):2879-2889. doi: 10.1681/ASN.2018070740. Epub 2018 Nov 1.
Qiao L, Yang E, Luo J, Lin J, Yan X.
Altered myelination in the Niemann-Pick type C1 mutant mouse.
Histol Histopathol. 2018 Dec;33(12):1311-1321. doi: 10.14670/HH-18-017. Epub 2018 Jun 29.
Feng X, Bader BM, Yang F, Segura M, Schultz L, Schröder OH, Rolfs A, Luo J.
Improvement of impaired electrical activity in NPC1 mutant cortical neurons upon DHPG stimulation detected by micro-electrode array.
Brain Res. 2018 Sep 1;1694:87-93. doi: 10.1016/j.brainres.2018.05.009. Epub 2018 May 16.
Yang F, Feng X, Rolfs A, Luo J.
Lovastatin promotes myelin formation in NPC1 mutant oligodendrocytes.
J Neurol Sci. 2018 Mar 15;386:56-63. doi: 10.1016/j.jns.2018.01.015. Epub 2018 Jan 12
Yan X, Wang Z, Bishop CA, Weitkunat K, Feng X, Tarbier M, Luo J, Friedländer MR, Burkhardt R, Klaus S, Willnow TE, Poy MN.
Control of hepatic gluconeogenesis by Argonaute2.
Mol Metab. 2018 Oct 9. pii: S2212-8778(18)30794-4. doi: 10.1016/j.molmet.2018.10.003.
Glaß, H; Pal, A; Reinhardt, P; Sterneckert, J; Wegner, F; Storch, A; Hermann, A.
Defective mitochondrial and lysosomal trafficking in chorea-acanthocytosis is independent of Src-kinase signaling.
Mol. Cell. Neurosci., 2018 Aug 3. pii: S1044-7431(18)30132-5. doi: 10.1016/j.mcn.2018.08.002
Kreiter N, Pal A, Lojewski X, Corcia P, Naujock M, Reinhardt P, Sterneckert J, Petri, S, Wegner F, Storch A and Hermann A.
Age-dependent neurodegeneration and organelle transport deficiencies in mutant TDP43 patient-derived neurons are independent of TDP43 aggregation.
Neurobiol Dis. 2018 Apr 6;115:167-181
Günther R, Schrempf W, Hähner A, Hummel T, Wolz M, Storch A, Hermann A.
Impairment in respiratory function contributes to olfactory impairment in Amyotrophic Lateral Sclerosis.
Front Neurol. 2018 Feb 26;9:79.
Naumann M, Pal A, Goswami A, Lojewski X, Japtok J, Vehlow A, Naujock M, Günther R, Jin M, Stanslowski N, Reinhardt P, Sterneckert J, Frickenhaus M, Pan-Montojo F, Storkebaum E, Poser I, Freischmidt A, Weishaupt JH, Holzmann K, Troost D, Ludolph AC, Boeckers TM, Liebau S, Petri S, Cordes N, Hyman A, Wegner F, Grill S, Weis J, Storch A, Hermann A.
Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and aggregation formation.
Nature Communucations (2018), 9:335. DOI: 10.1038/s41467-017-02299-1
Ludolph AC, Schuster J, Dorst J, Dupuis L, Dreyhaupt J, Weishaupt JH, Kassubek J, Weiland U, Petri S, Meyer T, Grosskreutz J, Schrank B, Boentert M, Emmer A, Hermann A, Zeller D, Prudlo J, Winkler AS, Grehl T, Heneka MT, Wollebæk Johannesen S, Göricke B; RAS-ALS Study Group.
Safety and efficacy of rasagiline as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomised, double-blind, parallel-group, placebo-controlled, phase 2 trial.
Lancet Neurol. 2018 Aug;17(8):681-688. doi: 10.1016/S1474-4422(18)30176-5
Andersen PM, Kuzma-Kozakiewicz M, Keller J, Aho-Oezhan HEA, Ciecwierska K, Szejko N, Vázquez C, Böhm S, Badura-Lotter G, Meyer T, Petri S, Linse K, Hermann A, Semb O, Stenberg E, Nackberg S, Dorst J, Uttner I, Häggström AC, Ludolph AC, Lulé D.
Therapeutic decisions in ALS patients: cross-cultural differences and clinical implications.
J Neurol. 2018 Jul;265(7):1600-1606. doi: 10.1007/s00415-018-8861-4.
Marrone L, Poser I, Casci I, Japtok J, Reinhardt P, Janosch A, Andree C, Lee HO, Moebius C, Kroener E, Reinhardt L, Cicardi ME, Hackmann K, Klink B, Poletti A, Alberti S, Bickle M, Hermann A, Pandey U, Hyman AA, Sterneckert JL.
Novel isogenic FUS-eGFP iPSC reporter lines enable quantification of FUS stress granule pathology that is rescued by drugs inducing autophagy.
Stem Cell Reports. 2018 Jan 17. pii: S2213-6711(17)30566-0. doi: 10.1016/j.stemcr.2017.12.018
Linse K*, Aust E*, Joos M, Hermann A.
Communication Matters - Pitfalls and Promise of Hightech Communication Devices in Palliative Care of Severely Physically Disabled Patients With Amyotrophic Lateral Sclerosis.
Front Neurol. 2018 Jul 27;9:603. doi: 10.3389/fneur.2018.00603.*contributed equally
Nötzel M, Rosso G, Möllmert S, Seifert A, Schlüßler R, Kim K, Hermann A*, Guck J*.
Axonal Transport, Phase-Separated Compartments, and Neuron Mechanics - A New Approach to Investigate Neurodegenerative Diseases.
Front Cell Neurosci. 2018 Oct 9;12:358. doi: 10.3389/fncel.2018.00358. eCollection 2018. *contributed equally
Lang F, Pelzl L, Hauser S, Hermann A, Stournaras C, Schöls L.
To die or not to die SGK1-sensitive ORAI/STIM in cell survival.
Cell Calcium. 2018 May 3;74:29-34. doi: 10.1016/j.ceca.2018.05.001
Bräuer S, Zimyanin V, Hermann A.
Prion-like properties of disease-relevant proteins in amyotrophic lateral sclerosis.
J Neural Transm (Vienna). 2018 Feb 8. doi: 10.1007/s00702-018-1851-y.
Brockmann SJ, Freischmidt A, Oeckl P, Müller K, Ponna SK, Helferich AM, Paone C, Reinders J, Kojer K, Orth M, Jokela M, Auranen M, Udd B, Hermann A, Danzer KM, Lichtner P, Walther P, Ludolph AC, Andersen PM, Otto M, Kursula P, Just S, Weishaupt JH.
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.
Hum Mol Genet. 2018 Jan 5. doi: 10.1093/hmg/ddx436.
Peikert K, Hermann A, editors.
Proceedings of the ninth international meeting on neuroacanthocyosis syndromes; 2018 March 23–25; Dresden, Germany.
Tremor Other Hyperkinet Mov. 2018; 8. doi: 10.7916/D8ZC9KCW
Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk AE, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys KG, Schrank B, Sperfeld AD, Hübers A, Otto M, Dorst J, Meitinger T, Strom TM, Andersen PM, Ludolph AC, Weishaupt JH; German ALS network MND-NET.
Comprehensive analysis of the mutation spectrum in 301 German ALS families.
J Neurol Neurosurg Psychiatry. 2018 Apr 12. pii: jnnp-2017-317611. doi: 10.1136/jnnp-2017-317611
Collaborators: Weyen U, Hermann A, Regensburger M, Winkler J, Linker R, Winner B, Hagenacker T, Koch JC, Lingor P, Göricke B, Zierz S, Jordan B, Baum P, Wolf J, Winkler A, Young P, Bogdahn U, Prudlo J, Kassubek J, Danzer K.
Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D; German ALS network MND-NET , Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH.
Hot-spot KIF5A mutations cause familial ALS.
BRAIN 2018 Jan 12. doi: 10.1093/brain/awx370
Collaborators: Weyen U, Hermann A, Hagenacker T, Koch JC, Lingor P, Göricke B, Zierz S, Baum P, Wolf J, Winkler A, Young P, Bogdahn U, Prudlo J, Kassubek J.