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Publikationsliste (Auswahl)

2020

A flexible workflow for simulating transcranial electric stimulation in healthy and lesioned brains. Kalloch B, Bazin PL, Villringer A, Sehm B, Hlawitschka M. PLoS One. 2020 May 14;15(5):e0228119. doi: 10.1371/journal.pone.0228119. eCollection 2020. PMID: 32407389

The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in MT-ATP6 Mutations? Urban DL, Scholle LM, Wagner M, Ludolph AC, Rosenbohm A. Diseases. 2020 Jun 9;8(2):E19. doi: 10.3390/diseases8020019. PMID: 32527054

Exon skipping in Duchenne Muscle dystrophy due to a silent p.Ser443= mutation in the DMD gene. Raj Joshi P, Sarangerel J, Munkhbayar R, Gläser D, Zierz S. J Clin Neurosci. 2020 Apr 19. pii: S0967-5868(20)30389-1. doi: 10.1016/j.jocn.2020.04.065

Myalgia in 30 Patients with Suspected Myopathy. Lehmann Urban D, Lehmann E, Motlagh Scholle L, Kraya T.Int J Environ Res Public Health. 2020 Apr 6;17(7). pii: E2502. doi: 10.3390/ijerph17072502 

Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.Joshi PR, Zierz S., Molecules. 2020 Apr 13;25(8). pii: E1784. doi: 10.3390/molecules25081784. Review.

Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant. Joshi PR, Baty K, Hopton S, Cordts I, Falkous G, Schoser B, Blakely EL, Taylor RW, Deschauer M. Neuromuscul Disord. 2020 Mar 5. pii: S0960-8966(20)30061-4. doi: 10.1016/j.nmd.2020.02.020. 

Heteroplasmy and Copy Number in the Common m.3243A>G Mutation-A Post-Mortem Genotype-Phenotype Analysis. Scholle LM, Zierz S., Mawrin C, Wickenhauser C, Urban DL. Genes (Basel). 2020 Feb 18;11(2). pii: E212. doi: 10.3390/genes11020212

McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients. Joshi PR, Deschauer M, Zierz S. Biomedicines. 2020 Feb 15;8(2). pii: E33. doi: 10.3390/biomedicines8020033.

Basilar artery thrombosis during sexual intercourse. Posa A, Mueller T, Ungurs O, Kornhuber M, Zierz S., J Clin Neurosci. 2020 Apr;74:238-240. doi: 10.1016/j.jocn.2020.01.071.

Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation. Lehmann Urban D, Motlagh Scholle L, Alt K, Ludolph AC, Rosenbaum A. Diagnostics (Basel). 2020 Jan 26;10(2). pii: E68. doi: 10.3390/diagnostics10020068.

2019

Aggressive systemic mastocytosis: a diagnostic challenge in a patient with myotonic dystrophy type 2: a case report. Tran CLH, Jaekel N, Bauer M, Emmer A, Wickenhauser C, Al-Ali HK. Ann Hematol. 2019 Dec;98(12):2825-2827. doi: 10.1007/s00277-019-03828-2.

Response: Late-onset Pompe disease manifests in the brain. Schneider I, Hensel O, Zierz S. Mol Genet Metab Rep. 2019 Oct 16;21:100516. doi: 10.1016/j.ymgmr.2019.100516. eCollection 2019 Dec. No abstract available. 

Anodal Transcranial Direct Current Stimulation Over S1 Differentially Modulates Proprioceptive Accuracy in Young and Old Adults. Muffel T, Kirsch F, Shih PC, Kalloch B, Schaumberg S, Villringer A, Sehm B. Front Aging Neurosci. 2019 Sep 26;11:264. doi: 10.3389/fnagi.2019.00264. 

White matter lesions in treated late onset Pompe disease are not different to matched controls. Schneider I, Hensel O, Zierz S. Mol Genet Metab. 2019 Jun;127(2):128-131. doi: 10.1016/j.ymgme.2019.05.007

Myositis in Lewis rats induced by the superantigen Staphylococcal enterotoxin A.Emmer A, Abobarin-Adeagbo A, Posa A, Jordan B, Delank KS, Staege MS, Surov A, Zierz S, Kornhuber ME.Mol Biol Rep. 2019 Aug;46(4):4085-4094. doi: 10.1007/s11033-019-04858-9.

Predicting the Response to Non-invasive Brain Stimulation in Stroke. Ovadia-Caro S, Khalil AA, Sehm B, Villringer A, Nikulin VV, Nazarova M. Front Neurol. 2019 Apr 2;10:302. doi: 10.3389/fneur.2019.00302.

Comparison of visual and auditory emotion recognition in patients with cerebellar and Parkinson´s disease. Adamaszek M, D'Agata F, Steele CJ,Sehm B, Schoppe C, Strecker K, Woldag H, Hummelsheim H, Kirkby KC. Soc Neurosci. 2019 Apr;14(2):195-207. doi: 10.1080/17470919.2018.1434089 

Kinematic profiles suggest differential control processes involved in bilateral in-phase and anti-phase movements. Shih PC, Steele CJ, Nikulin V, Villringer A, Sehm B. Sci Rep. 2019 Mar 1;9(1):3273. doi: 10.1038/s41598-019-40295-1.

Semi-automated generation of individual computational models of the human head and torso from MR images. Kalloch B, Bode J, Kozlov M, Pampel A, Hlawitschka M, Sehm B, Villringer A, Möller HE, Bazin PL. Magn Reson Med. 2019 Mar;81(3):2090-2105. doi: 10.1002/mrm.2750

Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency. Motlagh Scholle L, Lehmann D, Joshi PR, Zierz S. Int J Mol Sci. 2019 Mar 20;20(6). pii: E1400. doi: 10.3390/ijms20061400.

Phenotype of carniteine palmitoyltransferase II (CPT) deficiency: A questionnaire-based survey. Joshi PR, Deschauer M, Zierz S. J Clin Neurosci. 2019 Jan;59:32-36. doi: 10.1016/j.jocn.2018.11.023  

2018

Lack of activation of the S113L variant of carnitine palmitoyltransfersase II by cardiolipin. Motlagh Scholle L, Thaele A, Beckers M, Meinhardt B, Zierz S. J Bioenerg Biomembr. 2018 Dec;50(6):461-466. doi: 10.1007/s10863-018-9781-9.

Home-based balance training using Wii Fit™: a pilot randomised controlled trial with mobile older stroke survivors. Golla A, Müller T, Wohlfarth K, Jahn P, Mattukat K, Mau W. Pilot Feasibility Stud. 2018 Aug 25;4:143. doi: 10.1186/s40814-018-0334-0

The p.S85C-mutation in MATR3 impairs stress granule formation in Matrin-3 myopathy. Mensch A, Meinhardt B, Bley N, Hüttelmaier S, Schneider I, Stoltenburg-Didinger G, Kraya T, Müller T, Zierz S. Exp Neurol. 2018 Aug;306:222-231. doi: 10.1016/j.expneurol.2018.05.012

Dopaminergic modulation of hemodynamic signal variability and the functional connectome during cognitive performance. Alavash M, Lim SJ, Thiel C, sehm B, Deserno L, Obleser J. Neuroimage. 2018 May 15;172:341-356. doi: 10.1016/j.neuroimage.2018.01.048 

Treatment of adult idiopathic inflammatory myopathies with conventional immunosuppressive drugs : Results of a retrospective study. Keyßer G, Zierz S, Kornhuber M. Z Rheumatol. 2019 Mar;78(2):183-189. doi: 10.1007/s00393-018-0471-0.

Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease. Hensel O, Schneider I, Wieprecht M, Kraya T, Zierz S. Orphanet J Rare Dis. 2018 Apr 13;13(1):57. doi: 10.1186/s13023-018-0794-6.

Hyperglycemia-related central pontine demyelinization after a binge-eating attack in a patient with type-2 diabetes: a case report. Pliquett RU, Noll A, Ibe R, Katz A, Ackmann C, Schreiber A, Girndt M. BMC Endocr Disord. 2018 Mar 12;18(1):18. doi: 10.1186/s12902-018-0245-3.

Genetic Determinants of Antibody Levels in Cerebrospinal Fluid in Multiple Sclerosis: Possible Links to Endogenous Retroviruses. Emmer A, Brütting C, Kornhuber M, Staege MS. Int J Mol Sci. 2018 Mar 9;19(3). pii: E786. doi: 10.3390/ijms19030786.

High-altitude cerebral edema or acute demyelinating encephalomyelitis in the Himalayas. Hensel O, Niroula P, Paudel R, Sherpa T, Kraya T, Presek P, Zierz S. Neurol Clin Pract. 2018 Feb;8(1):77-78. doi: 10.1212/CPJ.0000000000000416 

Frequency of Headache in Mitochondrial Disorders: A Response. Kraya T, Zierz S. Headache. 2018 Feb;58(2):315-316. doi: 10.1111/head.13253. 

Foodborne botulism due to ingestion of home-canned green beans: two case reports. Hellmich D, Wartenberg KE, Zierz S, Mueller TJ. J Med Case Rep. 2018 Jan 4;12(1):1. doi: 10.1186/s13256-017-1523-9.

Prevalence of Headache in Patients With Mitochondrial Disease: A Cross-Sectional Study. Kraya T, Deschauer M, Joshi PR, Zierz S, Gaul C. Headache. 2018 Jan;58(1):45-52. doi: 10.1111/head.13219.

FGF-21 as a Potential Biomarker for Mitochondrial Diseases. Scholle LM, Lehmann D, Deschauer M, Kraya T, Zierz S. Curr Med Chem. 2018;25(18):2070-2081. doi: 10.2174/092986732566618011109433