Search Results - "Klee, Dirk"

Gadolinium Brain Deposition after Macrocyclic Gadolinium Administration: A Pediatric Case-Control Study by Tibussek, Daniel, Rademacher, Christin, Caspers, Julian, Turowski, Bernd, Schaper, Jörg, Antoch, Gerald, Klee, Dirk

“…Purpose To determine whether signal intensity (SI) in T1 sequences as a potential indicator of gadolinium deposition increases after repeated administration of…”
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NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood by Kremer, Laura S., Danhauser, Katharina, Herebian, Diran, Petkovic Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Seibt, Annette, Müller-Felber, Wolfgang, Haack, Tobias B., Płoski, Rafał, Lohmeier, Klaus, Schneider, Dominik, Klee, Dirk, Rokicki, Dariusz, Mayatepek, Ertan, Strom, Tim M., Meitinger, Thomas, Klopstock, Thomas, Pronicka, Ewa, Mayr, Johannes A., Baric, Ivo, Distelmaier, Felix, Prokisch, Holger

“…To safeguard the cell from the accumulation of potentially harmful metabolic intermediates, specific repair mechanisms have evolved. APOA1BP, now renamed NAXE,…”
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Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration by Fagerberg, Christina R, Taylor, Adrian, Distelmaier, Felix, Schrøder, Henrik D, Kibæk, Maria, Wieczorek, Dagmar, Tarnopolsky, Mark, Brady, Lauren, Larsen, Martin J, Jamra, Rami A, Seibt, Annette, Hejbøl, Eva Kildall, Gade, Else, Markovic, Ljubo, Klee, Dirk, Nagy, Peter, Rouse, Nicholas, Agarwal, Prasoon, Dolinsky, Vernon W, Bakovic, Marica

“…Cerebral choline metabolism is crucial for normal brain function, and its homoeostasis depends on carrier-mediated transport. Here, we report on four…”
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Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism by Corda, Heike, Kummer, Sebastian, Welters, Alena, Teig, Norbert, Klee, Dirk, Mayatepek, Ertan, Meissner, Thomas

“…Treatment of severe diffuse congenital hyperinsulinism (CHI) without sufficient response to diazoxide is complicated by the lack of approved drugs. Therefore,…”
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Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities by Wagner, Matias, Skorobogatko, Yuliya, Pode-Shakked, Ben, Powell, Cynthia M., Alhaddad, Bader, Seibt, Annette, Barel, Ortal, Heimer, Gali, Hoffmann, Chen, Demmer, Laurie A., Perilla-Young, Yezmin, Remke, Marc, Wieczorek, Dagmar, Navaratnarajah, Tharsini, Lichtner, Peter, Klee, Dirk, Shamseldin, Hanan E., Al Mutairi, Fuad, Mayatepek, Ertan, Strom, Tim, Meitinger, Thomas, Alkuraya, Fowzan S., Anikster, Yair, Saltiel, Alan R., Distelmaier, Felix

“…Ral (Ras-like) GTPases play an important role in the control of cell migration and have been implicated in Ras-mediated tumorigenicity. Recently, variants in…”
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Fluorescence optical imaging and musculoskeletal ultrasonography in juvenile idiopathic polyarticular disease before and during antirheumatic treatment - a multicenter non-interventional diagnostic evaluation by Klein, Ariane, Just, Georg Werner, Werner, Stephanie Gabriele, Oommen, Prasad T, Minden, Kirsten, Becker, Ingrid, Langer, Hans-Eckhard, Klee, Dirk, Horneff, Gerd

“…Valid detection of inflamed joints is essential for correct classification, therapeutic decisions, prognosis and assessment of treatment efficacy in juvenile…”
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“shortCardiac” — An open-source framework for fast and standardized assessment of cardiac function by Radke, Karl Ludger, Hußmann, Janina, Röwer, Lena, Voit, Dirk, Frahm, Jens, Antoch, Gerald, Klee, Dirk, Pillekamp, Frank, Wittsack, Hans-Jörg

“…In medicine, especially in radiology, artificial intelligence has sparked a growing interest in automated systems, image analysis, and acquisition…”
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Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders by Münch, Juliane, Prasuhn, Jannik, Laugwitz, Lucia, Fung, Cheuk-Wing, Chung, Brian H.-Y., Bellusci, Marcello, Mayatepek, Ertan, Klee, Dirk, Distelmaier, Felix

“…Coenzyme Q10 (CoQ10) is an endogenously synthesized lipid molecule. It is best known for its role as a cofactor within the mitochondrial respiratory chain…”
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Deep Learning-Based Post-Processing of Real-Time MRI to Assess and Quantify Dynamic Wrist Movement in Health and Disease by Radke, Karl Ludger, Wollschläger, Lena Marie, Nebelung, Sven, Abrar, Daniel Benjamin, Schleich, Christoph, Boschheidgen, Matthias, Frenken, Miriam, Schock, Justus, Klee, Dirk, Frahm, Jens, Antoch, Gerald, Thelen, Simon, Wittsack, Hans-Jörg, Müller-Lutz, Anja

“…While morphologic magnetic resonance imaging (MRI) is the imaging modality of choice for the evaluation of ligamentous wrist injuries, it is merely static and…”
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EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum by Danhauser, Katharina, Haack, Tobias B., Alhaddad, Bader, Melcher, Marlen, Seibt, Annette, Strom, Tim M., Meitinger, Thomas, Klee, Dirk, Mayatepek, Ertan, Prokisch, Holger, Distelmaier, Felix

“…Mitochondrial aminoacyl tRNA synthetases are essential for organelle protein synthesis. Genetic defects affecting the function of these enzymes may cause…”
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Brown-Vialetto-Van Laere Syndrome: A Riboflavin-Unresponsive Patient With a Novel Mutation in the C20orf54 Gene by Koy, Anne, MD, Pillekamp, Frank, MD, Hoehn, Thomas, MD, Waterham, Hans, PhD, Klee, Dirk, MD, Mayatepek, Ertan, MD, Assmann, Birgit, MD

“…Abstract Brown-Vialetto-Van Laere syndrome (Online Mendelian Inheritance in Man number 211530) is a neurodegenerative disorder characterized by pontobulbar…”
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Crossed cerebellar diaschisis after status epilepticus in a young child by Koy, Anne, Klee, Dirk, Weber, Artur-Aron, Karenfort, Michael, Mayatepek, Ertan

“…We report on a 3.8-year-old girl who was born preterm. Due to a posthemorrhagic hydrocephalus she had a ventriculoperitoneal shunt. Magnetic resonance imaging…”
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Classical homocystinuria presenting with transient basal ganglia pathology and dystonia by Averdunk, Luisa, Thimm, Eva, Klee, Dirk, Haack, Tobias B., Distelmaier, Felix

“…Abstract Classical homocystinuria is caused by pathogenic variants in the CBS gene leading to a deficiency of the vitamin B6‐dependent enzyme cystathionine…”
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MATR3 haploinsufficiency and early-onset neurodegeneration by Zech, Michael, Seibt, Annette, Zumbaum, Barbara, Klee, Dirk, Meitinger, Thomas, Winkelmann, Juliane, Mayatepek, Ertan, Wagner, Matias, Distelmaier, Felix

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Real-time MRI: a new tool of radiologic imaging in small children by Hirsch, Franz Wolfgang, Frahm, Jens, Sorge, Ina, Klee, Dirk, Prenzel, Freerk, Krause, Matthias, Lacher, Martin, Voit, Dirk, Gräfe, Daniel

“…Real-time MRI (rt-MRI) in children is a new imaging technique that combines the advantages of US — at frame rates of up to 50 images per second — with the…”
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Spirometry‐based reconstruction of real‐time cardiac MRI: Motion control and quantification of heart–lung interactions by Röwer, Lena Maria, Uelwer, Tobias, Hußmann, Janina, Malik, Halima, Eichinger, Monika, Voit, Dirk, Wielpütz, Mark Oliver, Frahm, Jens, Harmeling, Stefan, Klee, Dirk, Pillekamp, Frank

“…Purpose To test the feasibility of cardiac real‐time MRI in combination with retrospective gating by MR‐compatible spirometry, to improve motion control, and…”
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Dynamic assessment of scapholunate ligament status by real-time magnetic resonance imaging: an exploratory clinical study by Wilms, Lena Marie, Radke, Karl Ludger, Abrar, Daniel Benjamin, Frahm, Jens, Voit, Dirk, Thelen, Simon, Klee, Dirk, Grunz, Jan-Peter, Müller-Lutz, Anja, Nebelung, Sven

“…Objective Clinical-standard MRI is the imaging modality of choice for the wrist, yet limited to static evaluation, thereby potentially missing dynamic…”
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Comparison of cardiac volumetry using real-time MRI during free-breathing with standard cine MRI during breath-hold in children by Röwer, Lena Maria, Radke, Karl Ludger, Hußmann, Janina, Malik, Halima, Uelwer, Tobias, Voit, Dirk, Frahm, Jens, Wittsack, Hans-Joerg, Harmeling, Stefan, Pillekamp, Frank, Klee, Dirk

“…Background Cardiac real-time magnetic resonance imaging (RT-MRI) provides high-quality images even during free-breathing. Difficulties in post-processing…”
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First experience with real-time magnetic resonance imaging-based investigation of respiratory influence on cardiac function in pediatric congenital heart disease patients with chronic right ventricular volume overload by Röwer, Lena Maria, Radke, Karl Ludger, Hußmann, Janina, Malik, Halima, Eichinger, Monika, Voit, Dirk, Wielpütz, Mark Oliver, Frahm, Jens, Klee, Dirk, Pillekamp, Frank

“…Background Congenital heart disease (CHD) is often associated with chronic right ventricular (RV) volume overload. Real-time magnetic resonance imaging (MRI)…”
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Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration by Preising, Markus N., Görg, Boris, Friedburg, Christoph, Qvartskhava, Natalia, Budde, Birgit S., Bonus, Michele, Toliat, Mohammad R., Pfleger, Christopher, Altmüller, Janine, Herebian, Diran, Beyer, Mila, Zöllner, Helge J., Wittsack, Hans-Jörg, Schaper, Jörg, Klee, Dirk, Zechner, Ulrich, Nürnberg, Peter, Schipper, Jörg, Schnitzler, Alfons, Gohlke, Holger, Lorenz, Birgit, Häussinger, Dieter, Bolz, Hanno J.

“…ABSTRACT We previously reported that inactivation of the transmembrane taurine transporter (TauT or solute carrier 6a6) causes early retinal degeneration in…”
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