Search Results - "Bueltmann, Eva"

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects by Markus, Fenja, Kannengießer, Annika, Näder, Patricia, Atigbire, Paul, Scholten, Alexander, Vössing, Christine, Bültmann, Eva, Korenke, G Christoph, Owczarek-Lipska, Marta, Neidhardt, John

“…Heterotopia is a brain malformation caused by a failed migration of cortical neurons during development. Clinical symptoms of heterotopia vary in severity of…”
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Quantitative microstructural cerebral changes in neurofibromatosis type 1 by Bültmann, Eva, Spineli, Loukia M., Hartmann, Hans, Sander, Annette, Lanfermann, Heinrich

“…To evaluate microstructural cerebral changes in children with neurofibromatosis type 1 (NF1) based on T2 relaxation time measurements at 3Tesla. From our…”
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Mature cerebellar teratoma in adulthood by Beschorner, Rudi, Schittenhelm, Jens, Bueltmann, Eva, Ritz, Rainer, Meyermann, Richard, Mittelbronn, Michel

“…Extragonadal teratomas in adulthood are exceptionally rare and usually not located within the cerebellum. We here report on a 66‐year‐old male patient…”
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Hemodynamic reserve and high-intensity transient signals in moyamoya disease by Horn, Peter, Lanczik, Oliver, Vajkoczy, Peter, Daffertshofer, Michael, Bueltmann, Eva, Werner, Axel, Schmiedek, Peter, Hennerici, Michael

“…Moyamoya disease (MMD) as a rare obstructive cerebrovascular disease is assumed to present with ischemic symptoms due to hemodynamic compromise. However,…”
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Cerebellar Bottom of Fissure Hyperintensities in MT‐ATP6‐Associated Ataxia by Roeben, Benjamin, Bültmann, Eva, Stendel, Claudia, Synofzik, Matthis

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Eculizumab in Typical Hemolytic Uremic Syndrome (HUS) With Neurological Involvement by Pape, Lars, Hartmann, Hans, Bange, Franz Christoph, Suerbaum, Sebastian, Bueltmann, Eva, Ahlenstiel-Grunow, Thurid

“…In typical hemolytic uremic syndrome (HUS) approximately 25% of patients show central nervous system (CNS) involvement often leading to serious long-term…”
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Cerebral microstructural changes in children suffering from hemolytic uremic syndrome by Bültmann, Eva, Zapf, Antonia, Mussgnug, Hans Joachim, Kanzelmeyer, Nele, Hartmann, Hans

“…To evaluate microstructural cerebral changes in children suffering from typical hemolytic uremic syndrome (HUS) based on apparent diffusion coefficient (ADC)…”
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Convolutional Neural Network for Fully Automated Cerebellar Volumetry in Children in Comparison to Manual Segmentation and Developmental Trajectory of Cerebellar Volumes by Sobootian, Daria Juliane, Bronzlik, Paul, Spineli, Loukia M., Becker, Lena Sophie, Winther, Hinrich Boy, Bueltmann, Eva

“…The purpose of this study was to develop a fully automated and reliable volumetry of the cerebellum of children during infancy and childhood using deep…”
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Extrahepatic manifestations of progressive familial intrahepatic cholestasis syndromes: Presentation of a case series and literature review by Pfister, Eva‐Doreen, Dröge, Carola, Liebe, Roman, Stalke, Amelie, Buhl, Nicole, Ballauff, Antje, Cantz, Tobias, Bueltmann, Eva, Stindt, Jan, Luedde, Tom, Baumann, Ulrich, Keitel, Verena

“…Background and Aims Progressive familial intrahepatic cholestasis (PFIC) is a collective term for a heterogenous group of rare, inherited cholestasis…”
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Issue Cover by Pfister, Eva‐Doreen, Dröge, Carola, Liebe, Roman, Stalke, Amelie, Buhl, Nicole, Ballauff, Antje, Cantz, Tobias, Bueltmann, Eva, Stindt, Jan, Luedde, Tom, Baumann, Ulrich, Keitel, Verena

“…The cover image is based on the Review Extrahepatic manifestations of progressive familial intrahepatic cholestasis syndromes: Presentation of a case series…”
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A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10 by Owczarek-Lipska, Marta, Markus, Fenja, Bültmann, Eva, Korenke, G Christoph, Neidhardt, John

“…TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) is a rare genetic condition, caused…”
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Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy by Danhauser, Katharina, Alhaddad, Bader, Makowski, Christine, Piekutowska-Abramczuk, Dorota, Syrbe, Steffen, Gomez-Ospina, Natalia, Manning, Melanie A., Kostera-Pruszczyk, Anna, Krahn-Peper, Claudia, Berutti, Riccardo, Kovács-Nagy, Reka, Gusic, Mirjana, Graf, Elisabeth, Laugwitz, Lucia, Röblitz, Michaela, Wroblewski, Andreas, Hartmann, Hans, Das, Anibh M., Bültmann, Eva, Fang, Fang, Xu, Manting, Schatz, Ulrich A., Karall, Daniela, Zellner, Herta, Haberlandt, Edda, Feichtinger, René G., Mayr, Johannes A., Meitinger, Thomas, Prokisch, Holger, Strom, Tim M., Płoski, Rafał, Hoffmann, Georg F., Pronicki, Maciej, Bonnen, Penelope E., Morlot, Susanne, Haack, Tobias B.

“…ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases transfer ADP-ribose from NAD+ to the…”
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First results of electrode reimplantation and its hypothetical dependence from artificial brain maturation by Roßberg, Willi, Timm, Max, Matin, Farnaz, Zanoni, Alessandra, Krüger, Caroline, Giourgas, Alexandros, Bültmann, Eva, Lenarz, Thomas, Kral, Andrej, Lesinski-Schiedat, Anke

“…Background After introducing the first Cochlear Implants also in children theses are grown with electrical intracochlear stimulation and subsequent auditory…”
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Measuring in vivo cerebral maturation using age-related T 2 relaxation times at 3 T by Bültmann, Eva, Spineli, Loukia M., Hartmann, Hans, Lanfermann, Heinrich

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WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly by Bögershausen, Nina, Krawczyk, Hannah E., Jamra, Rami A., Lin, Sheng‐Jia, Yigit, Gökhan, Hüning, Irina, Polo, Anna M., Vona, Barbara, Huang, Kevin, Schmidt, Julia, Altmüller, Janine, Luppe, Johannes, Platzer, Konrad, Dörgeloh, Beate B., Busche, Andreas, Biskup, Saskia, Mendes, Marisa I., Smith, Desiree E. C., Salomons, Gajja S., Zibat, Arne, Bültmann, Eva, Nürnberg, Peter, Spielmann, Malte, Lemke, Johannes R., Li, Yun, Zenker, Martin, Varshney, Gaurav K., Hillen, Hauke S., Kratz, Christian P., Wollnik, Bernd

“…Aminoacylation of transfer RNA (tRNA) is a key step in protein biosynthesis, carried out by highly specific aminoacyl‐tRNA synthetases (ARSs). ARSs have been…”
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Age-related T2 relaxation times at 3 Tesla as a biomarker of infratentorial brain maturation by Bültmann, Eva, Spineli, Loukia M., Göhner, Friederike, Hartmann, Hans, Lanfermann, Heinrich

“…Purpose The purpose of this study was to examine age-related, infratentorial changes in T 2 relaxation times during infancy and childhood using routine MRI…”
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Neurological Manifestations of Mycoplasma pneumoniae Infection in Hospitalized Children and Their Long-Term Follow-Up by Kammer, Jessica, Ziesing, Stefan, Davila, Lukas Aguirre, Bültmann, Eva, Illsinger, Sabine, Das, Anibh M, Haffner, Dieter, Hartmann, Hans

“…Objective In this retrospective study, we aimed to assess frequency, types, and long-term outcome of neurological disease during acute Mycoplasma pneumoniae…”
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Changes of brain metabolite concentrations during maturation in different brain regions measured by chemical shift imaging by Bültmann, Eva, Nägele, Thomas, Lanfermann, Heinrich, Klose, Uwe

“…Introduction We examined the effect of maturation on the regional distribution of brain metabolite concentrations using multivoxel chemical shift imaging…”
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Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases by Graessner, Holm, Reinhard, Carola, Bäumer, Tobias, Baumgärtner, Annette, Brockmann, Knut, Brüggemann, Norbert, Bültmann, Eva, Erdmann, Jeanette, Heise, Kirstin, Höglinger, Günter, Hüning, Irina, Kaiser, Frank J, Klein, Christine, Klopstock, Thomas, Krägeloh-Mann, Ingeborg, Kraemer, Markus, Luedtke, Kerstin, Mücke, Martin, Musacchio, Thomas, Nadke, Andreas, Osmanovic, Alma, Ritter, Gabriele, Röse, Katharina, Schippers, Christopher, Schöls, Ludger, Schüle, Rebecca, Schulz, Jörg B, Sproß, Joachim, Stasch, Eveline, Wunderlich, Gilbert, Münchau, Alexander

“…In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an…”
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Does severity of cerebral MRI lesions in congenital CMV infection correlates with the outcome of cochlear implantation? by Lyutenski, Stefan, Götz, Friedrich, Giourgas, Alexandros, Majdani, Omid, Bültmann, Eva, Lanfermann, Heinrich, Lenarz, Thomas, Giesemann, Anja M.

“…The objective is to investigate whether there is a correlation between the severity of typical brain lesions in congenital cytomegalovirus (cCMV) infection and…”
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