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282 results on '"Böttcher, Tobias"'

1. At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

Author

Guatibonza Moreno, Pilar, Pardo, Luba M., Pereira, Catarina, Schroeder, Sabine, Vagiri, Deepthi, Almeida, Ligia S., Juaristi, Carlos, Hosny, Heba, Loh, Clarice C. Y., Leubauer, Anika, Torres Morales, Galina, Oppermann, Sebastian, Iurașcu, Marius-Ionuț, Fischer, Steffen, Steinicke, Tara-Marisa, Viceconte, Nikenza, Cozma, Claudia, Kandaswamy, Krishna Kumar, Pinto Basto, Jorge, Böttcher, Tobias, Bauer, Peter, and Bertoli-Avella, Aida

Published
2023
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4. An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

Author

Almeida, Ligia S., Pereira, Catarina, Aanicai, Ruxandra, Schröder, Sabine, Bochinski, Tomasz, Kaune, Anett, Urzi, Alice, Spohr, Tania C. L. S., Viceconte, Nikenza, Oppermann, Sebastian, Alasel, Mohammed, Ebadat, Saeedeh, Iftikhar, Sana, Jasinge, Eresha, Elsayed, Solaf M., Tomoum, Hoda, Marzouk, Iman, Jalan, Anil B., Cerkauskaite, Agne, Cerkauskiene, Rimante, Tkemaladze, Tinatin, Nadeem, Anjum Muhammad, El Din Mahmoud, Iman Gamal, Mossad, Fawzia Amer, Kamel, Mona, Selim, Laila Abdel, Cheema, Huma Arshad, Paknia, Omid, Cozma, Claudia, Juaristi-Manrique, Carlos, Guatibonza-Moreno, Pilar, Böttcher, Tobias, Vogel, Florian, Pinto-Basto, Jorge, Bertoli-Avella, Aida, and Bauer, Peter

Published
2022
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7. Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study

Author

Curado, Filipa, primary, Rösner, Sabine, additional, Zielke, Susanne, additional, Westphal, Gina, additional, Grittner, Ulrike, additional, Skrahina, Volha, additional, Alasel, Mohammed, additional, Malik, Ahmad Mehmood, additional, Beetz, Christian, additional, Böttcher, Tobias, additional, Barel, Gal, additional, Sah, Ashish Prasad, additional, Dinur, Tama, additional, Anjum, Nadeem, additional, Ichraf, Quidad, additional, Kriouile, Yamna, additional, Hadipour, Zahra, additional, Hadipour, Fatemeh, additional, Revel-Vilk, Shoshana, additional, Cozma, Claudia, additional, Hartkamp, Jörg, additional, Cheema, Huma, additional, Zimran, Ari, additional, Bauer, Peter, additional, and Rolfs, Arndt, additional

Published
2023
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8. Quantifying symmetric exchange in ultrathin ferromagnetic films with chirality

Author

Böttcher, Tobias, primary, Suraj, T. S., additional, Chen, Xiaoye, additional, Sinha, Banibrato, additional, Tan, Hui Ru, additional, Tan, Hang Khume, additional, Laskowski, Robert, additional, Hillebrands, Burkard, additional, Kostylev, Mikhail, additional, Khoo, Khoong Hong, additional, Soumyanarayanan, Anjan, additional, and Pirro, Philipp, additional

Published
2023
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9. At a glance:the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

Author

Guatibonza Moreno, Pilar, Pardo, Luba M., Pereira, Catarina, Schroeder, Sabine, Vagiri, Deepthi, Almeida, Ligia S., Juaristi, Carlos, Hosny, Heba, Loh, Clarice C.Y., Leubauer, Anika, Torres Morales, Galina, Oppermann, Sebastian, Iurașcu, Marius Ionuț, Fischer, Steffen, Steinicke, Tara Marisa, Viceconte, Nikenza, Cozma, Claudia, Kandaswamy, Krishna Kumar, Pinto Basto, Jorge, Böttcher, Tobias, Bauer, Peter, Bertoli-Avella, Aida, Guatibonza Moreno, Pilar, Pardo, Luba M., Pereira, Catarina, Schroeder, Sabine, Vagiri, Deepthi, Almeida, Ligia S., Juaristi, Carlos, Hosny, Heba, Loh, Clarice C.Y., Leubauer, Anika, Torres Morales, Galina, Oppermann, Sebastian, Iurașcu, Marius Ionuț, Fischer, Steffen, Steinicke, Tara Marisa, Viceconte, Nikenza, Cozma, Claudia, Kandaswamy, Krishna Kumar, Pinto Basto, Jorge, Böttcher, Tobias, Bauer, Peter, and Bertoli-Avella, Aida

Abstract

Niemann-Pick type C1 disease (NPC1 [OMIM 257220]) is a rare and severe autosomal recessive disorder, characterized by a multitude of neurovisceral clinical manifestations and a fatal outcome with no effective treatment to date. Aiming to gain insights into the genetic aspects of the disease, clinical, genetic, and biomarker PPCS data from 602 patients referred from 47 countries and diagnosed with NPC1 in our laboratory were analyzed. Patients’ clinical data were dissected using Human Phenotype Ontology (HPO) terms, and genotype–phenotype analysis was performed. The median age at diagnosis was 10.6 years (range 0–64.5 years), with 287 unique pathogenic/likely pathogenic (P/LP) variants identified, expanding NPC1 allelic heterogeneity. Importantly, 73 P/LP variants were previously unpublished. The most frequent variants detected were: c.3019C > G, p.(P1007A), c.3104C > T, p.(A1035V), and c.2861C > T, p.(S954L). Loss of function (LoF) variants were significantly associated with earlier age at diagnosis, highly increased biomarker levels, and a visceral phenotype (abnormal abdomen and liver morphology). On the other hand, the variants p.(P1007A) and p.(S954L) were significantly associated with later age at diagnosis (p < 0.001) and mildly elevated biomarker levels (p ≤ 0.002), consistent with the juvenile/adult form of NPC1. In addition, p.(I1061T), p.(S954L), and p.(A1035V) were associated with abnormality of eye movements (vertical supranuclear gaze palsy, p ≤ 0.05). We describe the largest and most heterogenous cohort of NPC1 patients published to date. Our results suggest that besides its utility in variant classification, the biomarker PPCS might serve to indicate disease severity/progression. In addition, we establish new genotype–phenotype relationships for “frequent” NPC1 variants.

Published
2023

11. How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years

Author

Strunk, Daniel, primary, Becker, Jana, additional, Veltkamp, Roland, additional, Meuth, Sven G., additional, Bauer, Peter, additional, Böttcher, Tobias, additional, Rolfs, Arndt, additional, Schwitalla, Jan Claudius, additional, and Kraemer, Markus, additional

Published
2022
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12. Synthesis and crystal structures of extremely bulky phosphinoamido and phosphinoamino germanium(II) chloride complexes

Author

Böttcher Tobias and Jones Cameron

Subjects
bulky amide, germanium, germylene, low-coordinate, x-ray crystallography, Chemistry, QD1-999
Abstract

Reaction of an extremely bulky potassium amide complex, KL† (L†=[Ar†(PPh2)N]-, Ar†=C6H2{C(H)Ph2}2Pri-2,6,4), with GeCl2·dioxane afforded low yields of the phosphinoamido and phosphinoamino germanium(II) chloride complexes, [GeCl2(κ1-P-L†GeCl)] and [GeCl2(κ1-P-L†H)], respectively. The X-ray crystal structures, and limited spectroscopic data, for the complexes are reported. Both complexes represent rare examples of phosphine adducts of GeCl2.

Published
2015
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15. OP033: An integrated multiomic panel as an excellent tool for the genetic diagnosis of metabolic diseases: Our first 3,720 patients

Author

Almeida, Ligia, primary, Pereira, Catarina, additional, Aanicai, Ruxandra, additional, Schröder, Sabine, additional, Bochinski, Tomasz, additional, Kaune, Anett, additional, Gustke, Franziska, additional, Viceconte, Nikenza, additional, Oppermann, Sebastian, additional, Brüsehafer, Katja, additional, Böttcher, Tobias, additional, Vogel, Florian, additional, Basto, Jorge Pinto, additional, Bauer, Peter, additional, and Bertoli-Avella, Aida, additional

Published
2022
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16. Enhanced thermally-activated skyrmion diffusion in synthetic antiferromagnetic systems with tunable effective topological charge

Author

Dohi, Takaaki, Weißenhofer, Markus, Kerber, Nico, Kammerbauer, Fabian, Ge, Yuqing, Raab, Klaus, Zàzvorka, Jakub, Syskaki, Maria-Andromachi, Shahee, Aga, Ruhwedel, Moritz, Böttcher, Tobias, Pirro, Philipp, Jakob, Gerhard, Nowak, Ulrich, and Kläui, Mathias

Subjects
Condensed Matter - Materials Science, Materials Science (cond-mat.mtrl-sci), FOS: Physical sciences, Condensed Matter::Mesoscopic Systems and Quantum Hall Effect
Abstract

Magnetic skyrmions, topologically-stabilized spin textures that emerge in particular magnetic systems, have attracted attention due to a variety of electromagnetic responses that are governed by the topology. A well-studied effect of topology on the deterministic and drift motion under a nonequilibrium excitation is the so-called skyrmion Hall effect. For stochastic diffusive motion, the effect of topology is expected to have a drastically stronger impact, but the predicted even qualitative impact has not been demonstrated. The required tuning of the topology to achieve zero effective topological charge can be achieved using antiferromagnetic skyrmions. However, the diffusive motion has previously not been observed due to strong pinning in ferrimagnets and intrinsic antiferromagnets. Here we demonstrate enhanced thermally-activated diffusive motion of skyrmions in a specifically designed synthetic antiferromagnet where the topology can be tuned. Suppressing the effective topological charge for synthetic antiferromagnetic skyrmions leads to a more than 10 times enhanced diffusion coefficient as compared to ferromagnetic skyrmions. By varying the topology, we can not only demonstrate the topology-dependence of the diffusion coefficient but also enable ultimately energy-efficient unconventional computing that is actively making use of the stochasticity.

Published
2022
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20. Robust formation of nanoscale magnetic skyrmions in easy-plane anisotropy thin film multilayers with low damping

Author

Flacke, Luis, primary, Ahrens, Valentin, additional, Mendisch, Simon, additional, Körber, Lukas, additional, Böttcher, Tobias, additional, Meidinger, Elisabeth, additional, Yaqoob, Misbah, additional, Müller, Manuel, additional, Liensberger, Lukas, additional, Kákay, Attila, additional, Becherer, Markus, additional, Pirro, Philipp, additional, Althammer, Matthias, additional, Geprägs, Stephan, additional, Huebl, Hans, additional, Gross, Rudolf, additional, and Weiler, Mathias, additional

Published
2021
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23. Headache as a symptom at stroke onset in 4,431 young ischaemic stroke patients. Results from the “stroke in young fabry patients (SIFAP1) study”

Author

Kropp, Peter, Holzhausen, Martin, Kolodny, Edwin, Becker, Ulf, Dichgans, Martin, Diez-Tejedor, Exuperio, Enzinger, Christian, Fazekas, Franz, Fuentes, Blanca, Karpinska, Anna, Meyer, Wolfgang, Tanislav, Christian, Böttcher, Tobias, Rolfs, Arndt, and Stroke in Young Fabry Patients (sifap) Investigators

Published
2013
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28. Heisenberg Exchange and Dzyaloshinskii-Moriya Interaction in Ultrathin CoFeB Single and Multilayers

Author

Böttcher, Tobias, Lee, Kyujoon, Heussner, Frank, Jaiswal, Samridh, Jakob, Gerhard, Kläui, Mathias, Hillebrands, Burkard, Brächer, Thomas, and Pirro, Philipp

Subjects
Condensed Matter - Materials Science, Condensed Matter::Materials Science, Condensed Matter - Mesoscale and Nanoscale Physics, Mesoscale and Nanoscale Physics (cond-mat.mes-hall), Materials Science (cond-mat.mtrl-sci), FOS: Physical sciences, Condensed Matter::Strongly Correlated Electrons
Abstract

We present results of the analysis of Brillouin Light Scattering (BLS) measurements of spin waves performed on ultrathin single and multirepeat CoFeB layers with adjacent heavy metal layers. From a detailed study of the spin-wave dispersion relation, we independently extract the Heisenberg exchange interaction (also referred to as symmetric exchange interaction), the Dzyaloshinskii-Moriya interaction (DMI, also referred to as antisymmetric exchange interaction), and the anisotropy field. We find a large DMI in CoFeB thin films adjacent to a Pt layer and nearly vanishing DMI for CoFeB films adjacent to a W layer. Furthermore, the residual influence of the dipolar interaction on the dispersion relation and on the evaluation of the Heisenberg exchange parameter is demonstrated. In addition, an experimental analysis of the DMI on the spin-wave lifetime is presented. All these parameters play a crucial role in designing skyrmionic or spin-orbitronic devices., Comment: 10 pages, 7 figures

Published
2020
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32. Acute Cerebrovascular Disease in the Young: The Stroke in Young Fabry Patients Study

Author

Rolfs, Arndt, Fazekas, Franz, Grittner, Ulrike, Dichgans, Martin, Martus, Peter, Holzhausen, Martin, Böttcher, Tobias, Heuschmann, Peter U., Tatlisumak, Turgut, Tanislav, Christian, Jungehulsing, Gerhard J., Giese, Anne-Katrin, Putaala, Jukaa, Huber, Roman, Bodechtel, Ulf, Lichy, Christoph, Enzinger, Christian, Schmidt, Reinhold, Hennerici, Michael G., Kaps, Manfred, Kessler, Christof, Lackner, Karl, Paschke, Eduard, Meyer, Wolfgang, Mascher, Hermann, Riess, Olaf, Kolodny, Edwin, Norrving, Bo, Rolfs, A, Ginsberg, M, Hennerici, MG, Kessler, C, Kolodny, E, Martus, P, Norrving, B, Ringelstein, EB, Rothwell, PM, Venables, G, Bornstein, N, deDeyn, P, Dichgans, M, Fazekas, F, Markus, H, Rie, O, Biedermann, C, Böttcher, T, Brüderlein, K, Burmeister, J, Federow, I, König, F, Makowei, G, Niemann, D, Rolfs, A, Rösner, S, Zielke, S, Grittner, U, Martus, P, Holzhausen, M, Fazekas, F, Enzinger, C, Schmidt, R, Ropele, S, Windisch, M, Sterner, E, Bodamer, O, Fellgiebel, A, Hillen, U, Jonas, L, Kampmann, C, Kropp, P, Lackner, K, Laue, M, Mascher, H, Meyer, W, Paschke, E, Weidemann, F, Berrouschot, J, Stoll, A, Rokicha, A, Sternitzky, C, Thomä, M, DeDeyn, PP, Sheorajpanday, R, De Brabander, I, Yperzeele, L, Brouns, R, Oschmann, P, Pott, M, Schultes, K, Schultze, C, Hirsekorn, J, Jungehulsing, GJ, Villringer, A, Schmidt, W, Liman, T, Nowe, T, Ebinger, M, Wille, A, Loui, H, Objartel, A, übelacker, A, Mette, R, Jegzentis, K, Nabavi, DG, Crome, O, Bahr, D, Ebke, M, Platte, B, Kleinen, C, Mermolja Gunther, K, Heide, W, Pape, O, Hanssen, JR, Stangenberg, D, Klingelhofer, J, Schmidt, B, Schwarz, S, Schwarze, J, Frandlih, L, Iwanow, J, Steinbach, I, Krieger, D, Boysen, G, Leth Jeppesen, L, Petersen, A, Reichmann, H, Becker, U, Dzialkowski, I, Hentschel, H, Lautenschlager, C, Hanso, H, Gahn, G, Ziemssen, T, Fleischer, K, Sehr, B, McCabe, DJH, Tobin, O, Kinsella, J, Murphy, RP, Jander, S, Hartung, HP, Siebler, M, Bottcher, C, Kohne, A, Platzen, J, Brosig, TC, Rothhammer, V, Henseler, C, Neumann-Haefelin, T, Singer, OC, Ermis, U, dos Santos, IMRM, Schuhmann, C, van de Loo, S, Kaps, M, Allendorfer, J, Tanislav, C, Brandtner, M, Muir, K, Dani, K, MacDougall, N, Smith, W, Rowe, A, Welch, A, Fazekas, F, Schrotter, G, Krenn, U, Horner, S, Pendl, B, Pluta-Fuerst, A, Trummer, U, Kessler, C, Chatzopoulos, M, v Sarnowski, Bettina, Schminke, Ulf, Link, T, Khaw, A, Nieber, E, Zierz, S, Muller, T, Wegener, N, Wartenberg, K, Gaul, C, Richter, D, Rosenkranz, M, Krützelmann, AC, Hoppe, J, Choe, CU, Narr, S, Magnus, TU, Thomalla, G, Leypoldt, F, Otto, D, Lichy, C, Hacke, W, Barrows, RJ, Tatlisumak, T, Putaala, J, Curtze, S, Metso, M, Willeit, J, Furtner, M, Spiegel, M, Knoflach, MH, Prantl, B, Witte, OW, Brämer, D, Günther, A, Prell, T, Herzau, C, Aurich, K, Deuschl, G, Wodarg, F, Zimmermann, P, Eschenfelder, CC, Levsen, M, Weber, JR, Marecek, SM, Schneider, D, Michalski, D, Kloppig, W, Küppers-Tiedt, L, Schneider, M, Schulz, A, Matzen, P, Weise, C, Hobohm, C, Meier, H, Langos, R, Urban, D, Gerhardt, I, Thijs, V, Lemmens, R, Marcelis, E, Hulsbosch, C, Aichner, F, Haring, HP, Bach, E, Machado Candido, J, e Silva, AA, Lourenco, M, de Sousa, AIM, Derex, L, Cho, TH, Díez-Tejedor, E, Fuentes, B, Martínez-Sanchez, P, Pérez-Guevara, MI, Hamer, H, Metz, A, Hallenberger, K, Müller, P, Baron, P, Bersano, A, Gattinoni, M, Vella, N, Mallia, M, Jauss, M, Adam, L, Heidler, F, Gube, C, Kiszka, M, Dichgans, M, Karpinska, A, Mewald, Y, Straub, V, Dörr, A, Zollver, A, Ringelstein, EB, Schilling, M, Borchert, A, Preuth, N, Duning, T, Kuhlenbäumer, G, Schulte, D, Rothwell, PM, Marquardt, L, Schlachetzki, F, Boy, S, Mädl, J, Ertl, GM, Fehm, NPR, Stadler, C, Benecke, R, Dudesek, A, Kolbaske, S, Lardurner, G, Sulzer, C, Zerbs, A, Lilek, S, Walleczek, AM, Sinadinowska, D, Janelidze, M, Beridze, M, Lobjanidze, N, Dzagnidze, A, Melms, A, Horber, K, Fink, I, Liske, B, Ludolph, AC, Huber, R, Knauer, K, Hendrich, C, Raubold, S, Czlonkowska, A, Baranowska, A, Blazejewska-Hyzorek, B, Lang, W, Kristoferitsch, W, Ferrari, J, Ulrich, E, Flamm-Horak, A, Lischka-Lindner, A, Schreiber, W, Demarin, V, Tranjec, Z, Bosner-Puretic, M, Jurašić, MJ, Basic Kes, V, Budisic, M, and Kopacevic, L

Published
2013
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40. Borane Adducts of Aromatic Phosphorus Heterocycles: Synthesis, Crystallographic Characterization and Reactivity of a Phosphinine‐B(C6F5)3 Lewis Pair.

Author

Lin, Jinxiong, Wossidlo., Friedrich, Coles, Nathan T., Weber, Manuela, Steinhauer, Simon, Böttcher, Tobias, and Müller, Christian

Subjects
LEWIS pairs (Chemistry), BORANES, LEWIS basicity, ETHYNYL benzene, HETEROCYCLIC compounds, PHOSPHORUS
Abstract

A phosphinine‐borane adduct of a Me3Si‐functionalized phosphinine and the Lewis acid B(C6F5)3 has been synthesized and characterized crystallographically for the first time. The reaction strongly depends on the nature of the substituents in the α‐position of the phosphorus heterocycle. In contrast, the reaction of B2H6 with various substituted phosphinines leads to an equilibrium between the starting materials and the phosphinine–borane adducts that is determined by the Lewis basicity of the phosphinine. The novel phosphinine borane adduct (6‐B(C6F5)3) shows rapid and facile insertion and [4+2] cycloaddition reactivity towards phenylacetylene. A hitherto unknown dihydro‐1‐phosphabarrelene is formed with styrene. The reaction with an ester provides a new, facile and selective route to 1‐R‐phosphininium salts. These salts then undergo a [4+2] cycloaddition in the presence of Me3Si−C≡CH and styrene to cleanly form unprecedented derivatives of 1‐R‐phosphabarrelenium salts. [ABSTRACT FROM AUTHOR]

Published
2022
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46. Cations and Anions of Dibenzo[a,e]pentalene and Reduction of a Dibenzo[a,e]pentalenophane.

Author

Hermann, Mathias, Böttcher, Tobias, Schorpp, Marcel, Richert, Sabine, Wassy, Daniel, Krossing, Ingo, and Esser, Birgit

Abstract

Dibenzo[a,e]pentalene (DBP) is a non‐alternant conjugated hydrocarbon with antiaromatic character and ambipolar electrochemical behavior. Upon both reduction and oxidation, it becomes aromatic. We herein study the chemical oxidation and reduction of a planar DBP derivative and a bent DBP‐phane. The molecular structures of its planar dication, cation radical and anion radical in the solid state demonstrate the gained aromaticity through bond length equalization, which is supported by nucleus independent chemical shift‐calculations. EPR spectra on the cation radical confirm the spin delocalization over the DBP framework. A similar delocalization was not possible in the reduced bent DBP‐phane, which stabilized itself by proton abstraction from a solvent molecule upon reduction. This is the first report on structures of a DBP cation radical and dication in the solid state and of a reduced bent DBP derivative. Our study provides valuable insight into the charged species of DBP for its application as semiconductor. [ABSTRACT FROM AUTHOR]

Published
2021
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50. Abstract WMP46: Genetic Coding Variation in Young Stroke With Dolichoectasia

Author

Thijs, Vincent, primary, Grittner, Ulrike, additional, Giese, Anne-Katrin, additional, Böttcher, Tobias, additional, Enzinger, Christian, additional, McCabe, Dominick, additional, Putaala, Jukka, additional, Martus, Peter, additional, Norrving, Bo, additional, Fazekas, Franz, additional, Tatlisumak, Turgut, additional, and Rolfs, Arndt, additional

Published
2018
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