NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
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
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration
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
Published in Brain (London, England : 1878) (01.01.2020)
Published in Brain (London, England : 1878) (01.01.2020)
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Journal Article
Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism
Corda, Heike, Kummer, Sebastian, Welters, Alena, Teig, Norbert, Klee, Dirk, Mayatepek, Ertan, Meissner, Thomas
Published in Orphanet journal of rare diseases (02.06.2017)
Published in Orphanet journal of rare diseases (02.06.2017)
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Journal Article
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
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
Published in American journal of human genetics (06.02.2020)
Published in American journal of human genetics (06.02.2020)
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Journal Article
Fluorescence optical imaging and musculoskeletal ultrasonography in juvenile idiopathic polyarticular disease before and during antirheumatic treatment - a multicenter non-interventional diagnostic evaluation
Klein, Ariane, Just, Georg Werner, Werner, Stephanie Gabriele, Oommen, Prasad T, Minden, Kirsten, Becker, Ingrid, Langer, Hans-Eckhard, Klee, Dirk, Horneff, Gerd
Published in Arthritis research & therapy (30.06.2017)
Published in Arthritis research & therapy (30.06.2017)
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Journal Article
“shortCardiac” — An open-source framework for fast and standardized assessment of cardiac function
Radke, Karl Ludger, Hußmann, Janina, Röwer, Lena, Voit, Dirk, Frahm, Jens, Antoch, Gerald, Klee, Dirk, Pillekamp, Frank, Wittsack, Hans-Jörg
Published in SoftwareX (01.07.2023)
Published in SoftwareX (01.07.2023)
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Journal Article
Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders
Münch, Juliane, Prasuhn, Jannik, Laugwitz, Lucia, Fung, Cheuk-Wing, Chung, Brian H.-Y., Bellusci, Marcello, Mayatepek, Ertan, Klee, Dirk, Distelmaier, Felix
Published in Antioxidants (14.03.2023)
Published in Antioxidants (14.03.2023)
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Journal Article
Deep Learning-Based Post-Processing of Real-Time MRI to Assess and Quantify Dynamic Wrist Movement in Health and Disease
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
Published in Diagnostics (Basel) (11.06.2021)
Published in Diagnostics (Basel) (11.06.2021)
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Journal Article
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum
Danhauser, Katharina, Haack, Tobias B., Alhaddad, Bader, Melcher, Marlen, Seibt, Annette, Strom, Tim M., Meitinger, Thomas, Klee, Dirk, Mayatepek, Ertan, Prokisch, Holger, Distelmaier, Felix
Published in Metabolic brain disease (01.06.2016)
Published in Metabolic brain disease (01.06.2016)
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Journal Article
Brown-Vialetto-Van Laere Syndrome: A Riboflavin-Unresponsive Patient With a Novel Mutation in the C20orf54 Gene
Koy, Anne, MD, Pillekamp, Frank, MD, Hoehn, Thomas, MD, Waterham, Hans, PhD, Klee, Dirk, MD, Mayatepek, Ertan, MD, Assmann, Birgit, MD
Published in Pediatric neurology (01.06.2012)
Published in Pediatric neurology (01.06.2012)
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Journal Article
Crossed cerebellar diaschisis after status epilepticus in a young child
Koy, Anne, Klee, Dirk, Weber, Artur-Aron, Karenfort, Michael, Mayatepek, Ertan
Published in Neuropediatrics (01.04.2012)
Published in Neuropediatrics (01.04.2012)
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Journal Article
Classical homocystinuria presenting with transient basal ganglia pathology and dystonia
Averdunk, Luisa, Thimm, Eva, Klee, Dirk, Haack, Tobias B., Distelmaier, Felix
Published in Journal of inherited metabolic disease (01.11.2023)
Published in Journal of inherited metabolic disease (01.11.2023)
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Journal Article
MATR3 haploinsufficiency and early-onset neurodegeneration
Zech, Michael, Seibt, Annette, Zumbaum, Barbara, Klee, Dirk, Meitinger, Thomas, Winkelmann, Juliane, Mayatepek, Ertan, Wagner, Matias, Distelmaier, Felix
Published in Brain (London, England : 1878) (22.10.2021)
Published in Brain (London, England : 1878) (22.10.2021)
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Journal Article
RANBP2 mutation mimicking viral encephalitis
Averdunk, Luisa, Klee, Dirk, Wieczorek, Dagmar, Haack, Tobias B, Distelmaier, Felix
Published in Neuropediatrics (01.08.2022)
Published in Neuropediatrics (01.08.2022)
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Journal Article
Real-time MRI: a new tool of radiologic imaging in small children
Hirsch, Franz Wolfgang, Frahm, Jens, Sorge, Ina, Klee, Dirk, Prenzel, Freerk, Krause, Matthias, Lacher, Martin, Voit, Dirk, Gräfe, Daniel
Published in European journal of pediatrics (01.08.2023)
Published in European journal of pediatrics (01.08.2023)
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Journal Article
Spirometry‐based reconstruction of real‐time cardiac MRI: Motion control and quantification of heart–lung interactions
Röwer, Lena Maria, Uelwer, Tobias, Hußmann, Janina, Malik, Halima, Eichinger, Monika, Voit, Dirk, Wielpütz, Mark Oliver, Frahm, Jens, Harmeling, Stefan, Klee, Dirk, Pillekamp, Frank
Published in Magnetic resonance in medicine (01.11.2021)
Published in Magnetic resonance in medicine (01.11.2021)
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Journal Article
Dynamic assessment of scapholunate ligament status by real-time magnetic resonance imaging: an exploratory clinical study
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
Published in Skeletal radiology (01.04.2024)
Published in Skeletal radiology (01.04.2024)
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Journal Article
Comparison of cardiac volumetry using real-time MRI during free-breathing with standard cine MRI during breath-hold in children
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
Published in Pediatric radiology (01.07.2022)
Published in Pediatric radiology (01.07.2022)
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Journal Article
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
Röwer, Lena Maria, Radke, Karl Ludger, Hußmann, Janina, Malik, Halima, Eichinger, Monika, Voit, Dirk, Wielpütz, Mark Oliver, Frahm, Jens, Klee, Dirk, Pillekamp, Frank
Published in Pediatric radiology (01.12.2023)
Published in Pediatric radiology (01.12.2023)
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