Search Results - "Hinrichs, Frauke"

Flexible Powder Production for Additive Manufacturing of Refractory Metal-Based Alloys by Hinrichs, Frauke, Kauffmann, Alexander, Schliephake, Daniel, Seils, Sascha, Obert, Susanne, Ratschbacher, Karin, Allen, Melissa, Pundt, Astrid, Heilmaier, Martin

“…The quality and properties of metal powders are essential for powder metallurgical (PM) processes in general and for additive manufacturing (AM) processing…”
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The Creep and Oxidation Behaviour of Pesting-Resistant (Mo,Ti)5Si3-Containing Eutectic-Eutectoid Mo-Si-Ti Alloys by Obert, Susanne, Kauffmann, Alexander, Pretzler, Rupert, Schliephake, Daniel, Hinrichs, Frauke, Heilmaier, Martin

“…In this study we present a series of light-weight (6.24 to 6.42 g/cm3), Ti-rich Mo-Si-Ti alloys (≥40 at.% nominal Ti content) with the hitherto best…”
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Calibration of a concentration-driven nucleation mechanism for phase-field simulations of eutectic and off-eutectic compositions in AlCu-5Ag by Hinrichs, Frauke, Kellner, Michael, Hötzer, Johannes, Nestler, Britta

“…[Display omitted] The present work is an extension of the studies conducted by Kellner et al. [M. Kellner et al., Acta Materialia, vol. 182, pp 267–277,…”
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The New p.F1700L LRRK2 Variant Causes Parkinson's Disease by Extensively Increasing Kinase Activity by Borsche, Max, Pratuseviciute, Neringa, Schaake, Susen, Hinrichs, Frauke, Morel, Gabriel, Uter, Jan, Lohmann, Katja, Klein, Christine, Alessi, Dario R., Hagenah, Johann, Sammler, Esther

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Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family by Saffie Awad, Paula, Lohmann, Katja, Hirmas, Yasmin, Hinrichs, Frauke, Thomsen, Mirja, Kauffman, Marcelo, Lüth, Theresa, Trinh, Joanne, Westenberger, Ana, Chaná‐Cuevas, Pedro, Klein, Christine

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The New p. F1700L LRRK2 Variant Causes Parkinson's Disease by Extensively Increasing Kinase Activity by Borsche, Max, Pratuseviciute, Neringa, Schaake, Susen, Hinrichs, Frauke, Morel, Gabriel, Uter, Jan, Lohmann, Katja, Klein, Christine, Alessi, Dario R., Hagenah, Johann, Sammler, Esther

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A novel nitridation- and pesting-resistant Cr-Si-Mo alloy by Hinrichs, Frauke, Kauffmann, Alexander, Tirunilai, Aditya Srinivasan, Schliephake, Daniel, Beichert, Bonita, Winkens, Georg, Beck, Katharina, Ulrich, Anke Silvia, Galetz, Mathias Christian, Long, Zhongmin, Thota, Hemanth, Eggeler, Yolita, Pundt, Astrid, Heilmaier, Martin

“…Cr-13.5Si-32.2Mo (at%) solidifies as metastable σ-phase with a dendritic microstructure during arc melting. Heat treatment leads to a decomposition into a…”
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Phase Continuity, Brittle to Ductile Transition Temperature, and Creep Behavior of a Eutectic Mo–20Si–52.8Ti Alloy by Tirunilai, Aditya Srinivasan, Hinrichs, Frauke, Schliephake, Daniel, Engstler, Michael, Mücklich, Frank, Obert, Susanne, Winkens, Georg, Kauffmann, Alexander, Heilmaier, Martin

“…Mo–Si–Ti alloys, like eutectic Mo–20Si–52.8Ti (at%), have previously been intensely investigated, owing to their excellent oxidation and creep resistance. To…”
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Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B by Borsche, Max, Thomsen, Mirja, Szmulewicz, David J., Lübbers, Bente, Hinrichs, Frauke, Lockhart, Paul J., Lohmann, Katja, Helmchen, Christoph, Brüggemann, Norbert

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CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia by Tadic, Vera, Klein, Christine, Hinrichs, Frauke, Münchau, Alexander, Lohmann, Katja, Brüggemann, Norbert

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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders by Dulovic-Mahlow, Marija, Trinh, Joanne, Kandaswamy, Krishna Kumar, Braathen, Geir Julius, Di Donato, Nataliya, Rahikkala, Elisa, Beblo, Skadi, Werber, Martin, Krajka, Victor, Busk, Øyvind L., Baumann, Hauke, Al-Sannaa, Nouriya Abbas, Hinrichs, Frauke, Affan, Rabea, Navot, Nir, Al Balwi, Mohammed A., Oprea, Gabriela, Holla, Øystein L., Weiss, Maximilian E.R., Jamra, Rami A., Kahlert, Anne-Karin, Kishore, Shivendra, Tveten, Kristian, Vos, Melissa, Rolfs, Arndt, Lohmann, Katja

“…De novo variants represent a significant cause of neurodevelopmental delay and intellectual disability. A genetic basis can be identified in only half of…”
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Large‐Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes by Thomsen, Mirja, Marth, Katrin, Loens, Sebastian, Everding, Judith, Junker, Johanna, Borngräber, Friederike, Ott, Fabian, Jesús, Silvia, Gelderblom, Mathias, Odorfer, Thorsten, Kuhlenbäumer, Gregor, Kim, Han‐Joon, Schaeffer, Eva, Becktepe, Jos, Kasten, Meike, Brüggemann, Norbert, Pfister, Robert, Kollewe, Katja, Krauss, Joachim K., Lohmann, Ebba, Hinrichs, Frauke, Berg, Daniela, Jeon, Beomseok, Busch, Hauke, Altenmüller, Eckart, Mir, Pablo, Kamm, Christoph, Volkmann, Jens, Zittel, Simone, Ferbert, Andreas, Zeuner, Kirsten E., Rolfs, Arndt, Bauer, Peter, Kühn, Andrea A., Bäumer, Tobias, Klein, Christine, Lohmann, Katja

“…Background Pathogenic variants in several genes have been linked to genetic forms of isolated or combined dystonia. The phenotypic and genetic spectrum and the…”
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Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity by Dulovic‐Mahlow, Marija, König, Inke R., Trinh, Joanne, Diaw, Sokhna Haissatou, Urban, Peter P., Knappe, Evelyn, Kuhnke, Neele, Ingwersen, Lena‐Christin, Hinrichs, Frauke, Weber, Joachim, Kupnicka, Patrycja, Balck, Alexander, Delcambre, Sylvie, Vollbrandt, Tillman, Grünewald, Anne, Klein, Christine, Seibler, Philip, Lohmann, Katja

“…Objective Even though genetic predisposition has proven to be an important element in Parkinson's disease (PD) etiology, monozygotic (MZ) twins with PD…”
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Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders by Manzoor, Humera, Brüggemann, Norbert, Hussain, Hafiz Muhammad Jafar, Bäumer, Tobias, Hinrichs, Frauke, Wajid, Muhammad, Münchau, Alexander, Naz, Sadaf, Lohmann, Katja

“…Neurological disorders comprise a large group of clinically and genetically heterogeneous disorders, many of which have a genetic cause. In addition to a…”
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Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease by Chung, Sun Ju, König, Inke R., Lohmann, Katja, Hinrichs, Frauke, Kim, Juyeon, Ryu, Ho-Sung, Lee, Hyo Jeong, Kim, Kiju, Lee, Jeong Hoon, Jung, Kee Wook, Kim, Mi Jung, Kim, Mi-Jung, Kim, Young Jin, Yun, Sung-Cheol, Hong, Seung-Mo, Myung, Seung-Jae, Klein, Christine

“…Alpha-synuclein (α-Syn) immunostaining in the enteric nervous system (ENS) has been investigated to determine the role of diagnostic biomarker of Parkinson's…”
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A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members by Dulovic, Marija, Schäffer, Eva, Leypoldt, Frank, Balck, Alexander, Schaake, Susen, Hinrichs, Frauke, Kirchner, Henriette, Brüggemann, Norbert, Berg, Daniela, Lohmann, Katja

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RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia by Milovanović, Andona, Dragaševic‐Mišković, Nataša, Thomsen, Mirja, Borsche, Max, Hinrichs, Frauke, Westenberger, Ana, Klein, Christine, Brüggemann, Norbert, Branković, Marija, Marjanović, Ana, Svetel, Marina, Kostić, Vladimir S., Lohmann, Katja

“…Background The newly discovered intronic repeat expansions in the genes encoding replication factor C subunit 1 (RFC1) and fibroblast growth factor 14 (FGF14)…”
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Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia by Lohmann, Katja, Redin, Claire, Tönnies, Holger, Bressman, Susan B, Subero, Jose Ignacio Martin, Wiegers, Karin, Hinrichs, Frauke, Hellenbroich, Yorck, Rakovic, Aleksandar, Raymond, Deborah, Ozelius, Laurie J, Schwinger, Eberhard, Siebert, Reiner, Talkowski, Michael E, Saunders-Pullman, Rachel, Klein, Christine

“…Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the…”
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Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia by Pauly, Martje G., Hellenbroich, Yorck, Grundmann‐Hauser, Kathrin, Hinrichs, Frauke, Lohmann, Katja, Brüggemann, Norbert

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The role of mutations in COL6A3 in isolated dystonia by Lohmann, Katja, Schlicht, Felix, Svetel, Marina, Hinrichs, Frauke, Zittel, Simone, Graf, Julia, Lohnau, Thora, Schmidt, Alexander, Mir, Pablo, Krause, Patricia, Lang, Antony E., Jabusch, Hans-Christian, Wolters, Alexander, Kamm, Christoph, Zeuner, Kirsten E., Altenmüller, Eckart, Naz, Sadaf, Chung, Sun Ju, Kostic, Vladimir S., Münchau, Alexander, Kühn, Andrea A., Brüggemann, Norbert, Klein, Christine

“…Specific mutations in COL6A3 have recently been reported as the cause of isolated recessive dystonia, which is a rare movement disorder. In all patients, at…”
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