Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

Por Reunert, Janine, Wentzell, Rüdiger, Walter, Michael, Jakubiczka, Sibylle, Zenker, Martin, Brune, Thomas, Rust, Stephan, Marquardt, Thorsten
Publicado em 2012

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening()

Por Reunert, Janine, Fobker, Manfred, Kannenberg, Frank, Du Chesne, Ingrid, Plate, Maria, Wellhausen, Judith, Rust, Stephan, Marquardt, Thorsten
Publicado no EBioMedicine (2015)

Characterization of Cholesterol Homeostasis in Telomerase-immortalized Tangier Disease Fibroblasts Reveals Marked Phenotype Variability

Por Kannenberg, Frank, Gorzelniak, Kerstin, Jäger, Kathrin, Fobker, Manfred, Rust, Stephan, Repa, Joyce, Roth, Mike, Björkhem, Ingemar, Walter, Michael
Publicado em 2013

Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase‐congenital disorders of glycosylation (MA...

Por Kemme, Lisa, Grüneberg, Marianne, Reunert, Janine, Rust, Stephan, Park, Julien, Westermann, Cordula, Wada, Yoshinao, Schwartz, Oliver, Marquardt, Thorsten
Publicado no JIMD Rep (2021)

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

Por Marquardt, Thorsten, Bzduch, Vladimir, Hogrebe, Max, Rust, Stephan, Reunert, Janine, Grüneberg, Marianne, Park, Julien, Callewaert, Nico, Lachmann, Robin, Wada, Yoshinao, Engel, Thomas
Publicado no Mol Genet Metab Rep (2020)

Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report

Por Belkheir, Aziza Miriam, Reunert, Janine, Elpers, Christiane, van den Heuvel, Lambert, Rodenburg, Richard, Seelhöfer, Anja, Rust, Stephan, Jeibmann, Astrid, Frosch, Michael, Marquardt, Thorsten
Publicado no Front Neurol (2021)

News on Clinical Details and Treatment in PGM1-CDG

Por Schrapers, Esther, Tegtmeyer, Laura C., Simic-Schleicher, Gunter, Debus, Volker, Reunert, Janine, Balbach, Sebastian, Klingel, Karin, Du Chesne, Ingrid, Seelhöfer, Anja, Fobker, Manfred, Marquardt, Thorsten, Rust, Stephan
Publicado no JIMD Rep (2015)

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

Por Park, Julien H, Elpers, Christiane, Reunert, Janine, McCormick, Michael L, Mohr, Julia, Biskup, Saskia, Schwartz, Oliver, Rust, Stephan, Grüneberg, Marianne, Seelhöfer, Anja, Schara, Ulrike, Boltshauser, Eugen, Spitz, Douglas R, Marquardt, Thorsten
Publicado no Brain (2019)

Serotonin transporter gene methylation is associated with hippocampal gray matter volume

Por Dannlowski, Udo, Kugel, Harald, Redlich, Ronny, Halik, Adriane, Schneider, Ilona, Opel, Nils, Grotegerd, Dominik, Schwarte, Kathrin, Schettler, Christiane, Ambrée, Oliver, Rust, Stephan, Domschke, Katharina, Arolt, Volker, Heindel, Walter, Baune, Bernhard T., Suslow, Thomas, Zhang, Weiqi, Hohoff, Christa
Publicado no Hum Brain Mapp (2014)

N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency

Por Park, Julien H, Mealer, Robert G, Elias, Abdallah F, Hoffmann, Susanne, Grüneberg, Marianne, Biskup, Saskia, Fobker, Manfred, Haven, Jaclyn, Mangels, Ute, Reunert, Janine, Rust, Stephan, Schoof, Jonathan, Schwanke, Corbin, Smoller, Jordan W, Cummings, Richard D, Marquardt, Thorsten
Publicado no J Inherit Metab Dis (2020)

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

Por Nolting, Kristine, Park, Julien H., Tegtmeyer, Laura C., Zühlsdorf, Andrea, Grüneberg, Marianne, Rust, Stephan, Reunert, Janine, Du Chesne, Ingrid, Debus, Volker, Schulze-Bahr, Eric, Baxter, Robert C., Wada, Yoshinao, Thiel, Christian, van Schaftingen, Emile, Fingerhut, Ralph, Marquardt, Thorsten
Publicado no Mol Genet Metab Rep (2017)

Genome-Wide Mapping of Susceptibility to Coronary Artery Disease Identifies a Novel Replicated Locus on Chromosome 17

Por Farrall, Martin, Green, Fiona R, Peden, John F, Olsson, Per G, Clarke, Robert, Hellenius, Mai-Lis, Rust, Stephan, Lagercrantz, Jacob, Franzosi, Maria Grazia, Schulte, Helmut, Carey, Alisoun, Olsson, Gunnar, Assmann, Gerd, Tognoni, Gianni, Collins, Rory, Hamsten, Anders, Watkins, Hugh
Publicado em 2006

CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

Por Arjona, Francisco J., de Baaij, Jeroen H. F., Schlingmann, Karl P., Lameris, Anke L. L., van Wijk, Erwin, Flik, Gert, Regele, Sabrina, Korenke, G. Christoph, Neophytou, Birgit, Rust, Stephan, Reintjes, Nadine, Konrad, Martin, Bindels, René J. M., Hoenderop, Joost G. J.
Publicado em 2014

Human ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindred

Por Remaley, Alan T., Rust, Stephan, Rosier, Marie, Knapper, Cathy, Naudin, Laurent, Broccardo, Cyril, Peterson, Katherine M., Koch, Christine, Arnould, Isabelle, Prades, Catherine, Duverger, Nicholas, Funke, Harald, Assman, Gerd, Dinger, Maria, Dean, Michael, Chimini, Giovanna, Santamarina-Fojo, Silvia, Fredrickson, Donald S., Denefle, Patrice, Brewer, H. Bryan
Publicado em 1999

Association of Serotonin Transporter Gene AluJb Methylation with Major Depression, Amygdala Responsiveness, 5-HTTLPR/rs25531 Polymorphism, and Stress

Por Schneider, Ilona, Kugel, Harald, Redlich, Ronny, Grotegerd, Dominik, Bürger, Christian, Bürkner, Paul-Christian, Opel, Nils, Dohm, Katharina, Zaremba, Dario, Meinert, Susanne, Schröder, Nina, Straßburg, Anna Milena, Schwarte, Kathrin, Schettler, Christiane, Ambrée, Oliver, Rust, Stephan, Domschke, Katharina, Arolt, Volker, Heindel, Walter, Baune, Bernhard T, Zhang, Weiqi, Dannlowski, Udo, Hohoff, Christa
Publicado no Neuropsychopharmacology (2018)

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Por Park, Julien H., Hogrebe, Max, Grüneberg, Marianne, DuChesne, Ingrid, von der Heiden, Ava L., Reunert, Janine, Schlingmann, Karl P., Boycott, Kym M., Beaulieu, Chandree L., Mhanni, Aziz A., Innes, A. Micheil, Hörtnagel, Konstanze, Biskup, Saskia, Gleixner, Eva M., Kurlemann, Gerhard, Fiedler, Barbara, Omran, Heymut, Rutsch, Frank, Wada, Yoshinao, Tsiakas, Konstantinos, Santer, René, Nebert, Daniel W., Rust, Stephan, Marquardt, Thorsten
Publicado no Am J Hum Genet (2015)

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Por Schlingmann, Karl P., Ruminska, Justyna, Kaufmann, Martin, Dursun, Ismail, Patti, Monica, Kranz, Birgitta, Pronicka, Ewa, Ciara, Elzbieta, Akcay, Teoman, Bulus, Derya, Cornelissen, Elisabeth A.M., Gawlik, Aneta, Sikora, Przemysław, Patzer, Ludwig, Galiano, Matthias, Boyadzhiev, Veselin, Dumic, Miroslav, Vivante, Asaf, Kleta, Robert, Dekel, Benjamin, Levtchenko, Elena, Bindels, René J., Rust, Stephan, Forster, Ian C., Hernando, Nati, Jones, Glenville, Wagner, Carsten A., Konrad, Martin
Publicado no J Am Soc Nephrol (2016)

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Por Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique, Timal, Sharita, Reunert, Janine, Rust, Stephan, Pérez, Belén, Vicogne, Dorothée, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel, Pérez-Cerdá, Celia, Medrano, Celia, Arnoldy, Andrea, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A.W., Holleboom, Adriaan G., Nassogne, Marie-Cécile, Sokal, Etienne, Salomon, Jody, van den Bogaart, Geert, Drenth, Joost P.H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert, Foulquier, François, Marquardt, Thorsten, Lefeber, Dirk J.
Publicado no Am J Hum Genet (2016)