Lewy pathology in Parkinson’s disease consists of crowded organelles and lipid membranes
Shahmoradian, Sarah H., Lewis, Amanda J., Genoud, Christel, Hench, Jürgen, Moors, Tim E., Navarro, Paula P., Castaño-Díez, Daniel, Schweighauser, Gabriel, Graff-Meyer, Alexandra, Goldie, Kenneth N., Sütterlin, Rosmarie, Huisman, Evelien, Ingrassia, Angela, Gier, Yvonne de, Rozemuller, Annemieke J. M., Wang, Jing, Paepe, Anne De, Erny, Johannes, Staempfli, Andreas, Hoernschemeyer, Joerg, Großerüschkamp, Frederik, Niedieker, Daniel, El-Mashtoly, Samir F., Quadri, Marialuisa, Van IJcken, Wilfred F. J., Bonifati, Vincenzo, Gerwert, Klaus, Bohrmann, Bernd, Frank, Stephan, Britschgi, Markus, Stahlberg, Henning, Van de Berg, Wilma D. J., Lauer, Matthias E.
Published in Nature neuroscience (01.07.2019)
Published in Nature neuroscience (01.07.2019)
Get full text
Journal Article
Reference Values for Echocardiographic Assessment of the Diameter of the Aortic Root and Ascending Aorta Spanning All Age Categories
Campens, Laurence, MD, Demulier, Laurent, MD, De Groote, Katya, MD, Vandekerckhove, Kristof, MD, De Wolf, Daniël, MD, PhD, Roman, Mary J., MD, Devereux, Richard B., MD, De Paepe, Anne, MD, PhD, De Backer, Julie, MD, PhD
Published in The American journal of cardiology (15.09.2014)
Published in The American journal of cardiology (15.09.2014)
Get full text
Journal Article
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures
Cassatella, Daniele, Howard, Sasha R, Acierno, James S, Xu, Cheng, Papadakis, Georgios E, Santoni, Federico A, Dwyer, Andrew A, Santini, Sara, Sykiotis, Gerasimos P, Chambion, Caroline, Meylan, Jenny, Marino, Laura, Favre, Lucie, Li, Jiankang, Liu, Xuanzhu, Zhang, Jianguo, Bouloux, Pierre-Marc, Geyter, Christian De, Paepe, Anne De, Dhillo, Waljit S, Ferrara, Jean-Marc, Hauschild, Michael, Lang-Muritano, Mariarosaria, Lemke, Johannes R, Flück, Christa, Nemeth, Attila, Phan-Hug, Franziska, Pignatelli, Duarte, Popovic, Vera, Pekic, Sandra, Quinton, Richard, Szinnai, Gabor, l’Allemand, Dagmar, Konrad, Daniel, Sharif, Saba, Iyidir, Özlem Turhan, Stevenson, Brian J, Yang, Huanming, Dunkel, Leo, Pitteloud, Nelly
Published in European journal of endocrinology (01.04.2018)
Published in European journal of endocrinology (01.04.2018)
Get full text
Journal Article
Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers–Danlos syndrome
De Wandele, Inge, MSc, PT, Rombaut, Lies, PhD, PT, Leybaert, Luc, PhD, MD, Van de Borne, Philippe, PhD, MD, De Backer, Tine, PhD, MD, Malfait, Fransiska, PhD, MD, De Paepe, Anne, PhD, MD, Calders, Patrick, PhD
Published in Seminars in arthritis and rheumatism (01.08.2014)
Published in Seminars in arthritis and rheumatism (01.08.2014)
Get full text
Journal Article
Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder
Malfait, Fransiska, Kariminejad, Ariana, Van Damme, Tim, Gauche, Caroline, Syx, Delfien, Merhi-Soussi, Faten, Gulberti, Sandrine, Symoens, Sofie, Vanhauwaert, Suzanne, Willaert, Andy, Bozorgmehr, Bita, Kariminejad, Mohamad Hasan, Ebrahimiadib, Nazanin, Hausser, Ingrid, Huysseune, Ann, Fournel-Gigleux, Sylvie, De Paepe, Anne
Published in American journal of human genetics (06.06.2013)
Published in American journal of human genetics (06.06.2013)
Get full text
Journal Article
In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
CARMIGNAC, Virginie, THEVENON, Julien, RENARD, Marjolijn, PLAUCHU, Henri, PLESSIS, Ghislaine, DE BACKER, Julie, CHILD, Anne, ARNO, Gavin, DUPLOMB, Laurence, CALLIER, Patrick, ARAL, Bernard, VABRES, Pierre, ADES, Lesley, GIGOT, Nadege, ARBUSTINI, Eloisa, GRASSO, Maurizia, ROBINSON, Peter N, GOIZET, Cyril, BAUMANN, Clarisse, DI ROCCO, Maja, DEL POZO, Jaime Sanchez, HUET, Frédéric, JONDEAU, Guillaume, CALLEWAERT, Bert, COLLOD-BEROUD, Gwenaelle, BEROUD, Christophe, AMIEL, Jeanne, CORMIER-DAIRE, Valérie, RIVIERE, Jean-Baptiste, BOILEAU, Catherine, DE PAEPE, Anne, FAIVRE, Laurence, JULIA, Sophie, THAUVIN-ROBINET, Christel, GUENEAU, Lucie, COURCET, Jean-Benoit, LOPEZ, Estelle, HOLMAN, Katherine
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
Get full text
Journal Article
Application of Imaging Techniques to Cases of Drug-Induced Crystal Nephropathy in Preclinical Studies
Lenz, Barbara, Brink, Andreas, Siam, Monira, De Paepe, Anne, Bassett, Simon, Eichinger-Chapelon, Anne, Maliver, Pierre, Neff, Rachel, Niederhauser, Urs, Steinhuber, Bernd, Zurbach, Raphael, Singer, Thomas, Funk, Christoph, Schuler, Franz, Albassam, Mudher, Schadt, Simone
Published in Toxicological sciences (01.06.2018)
Published in Toxicological sciences (01.06.2018)
Get full text
Journal Article
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
Acke, Frederic R., Malfait, Fransiska, Vanakker, Olivier M., Steyaert, Wouter, De Leeneer, Kim, Mortier, Geert, Dhooge, Ingeborg, De Paepe, Anne, De Leenheer, Els M.R., Coucke, Paul J.
Published in Molecular genetics and metabolism (01.11.2014)
Published in Molecular genetics and metabolism (01.11.2014)
Get full text
Journal Article
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
Dietz, Harry C, Loeys, Bart L, Chen, Junji, Neptune, Enid R, Judge, Daniel P, Podowski, Megan, Holm, Tammy, Meyers, Jennifer, Leitch, Carmen C, Katsanis, Nicholas, Sharifi, Neda, Xu, F Lauren, Myers, Loretha A, Spevak, Philip J, Cameron, Duke E, Backer, Julie De, Hellemans, Jan, Chen, Yan, Davis, Elaine C, Webb, Catherine L, Kress, Wolfram, Coucke, Paul, Rifkin, Daniel B, De Paepe, Anne M
Published in Nature genetics (01.03.2005)
Published in Nature genetics (01.03.2005)
Get full text
Journal Article
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
Vandesompele, Jo, Verschueren, Kristin, Savarirayan, Ravi, Costa, Teresa, Huylebroeck, Danny, Mortier, Geert R, Willaert, Andy, Preobrazhenska, Olena, Janssens, Katrien, Vermeulen, Stefan J T, Naeyaert, Jean-Marie, Hul, Wim Van, Coucke, Paul J, Paepe, Anne De, Menten, Bjorn, Hellemans, Jan, Debeer, Philippe, Verdonk, Peter C M, Vanhoenacker, Filip, Speleman, Frank, Roy, Nadine Van
Published in Nature genetics (01.11.2004)
Published in Nature genetics (01.11.2004)
Get full text
Journal Article
A Miniaturized Extruder to Prototype Amorphous Solid Dispersions: Selection of Plasticizers for Hot Melt Extrusion
Lauer, Matthias E, Maurer, Reto, Paepe, Anne T De, Stillhart, Cordula, Jacob, Laurence, James, Rajesh, Kojima, Yuki, Rietmann, Rene, Kissling, Tom, van den Ende, Joost A, Schwarz, Sabine, Grassmann, Olaf, Page, Susanne
Published in Pharmaceutics (19.05.2018)
Published in Pharmaceutics (19.05.2018)
Get full text
Journal Article
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype
Swinnen, Freya K R, Coucke, Paul J, De Paepe, Anne M, Symoens, Sofie, Malfait, Fransiska, Gentile, Filomena V, Sangiorgi, Luca, D'Eufemia, Patrizia, Celli, Mauro, Garretsen, Ton J T M, Cremers, Cor W R J, Dhooge, Ingeborg J M, De Leenheer, Els M R
Published in Orphanet journal of rare diseases (29.12.2011)
Published in Orphanet journal of rare diseases (29.12.2011)
Get full text
Journal Article
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
Hadj-Rabia, Smail, Callewaert, Bert L, Bourrat, Emmanuelle, Kempers, Marlies, Plomp, Astrid S, Layet, Valerie, Bartholdi, Deborah, Renard, Marjolijn, De Backer, Julie, Malfait, Fransiska, Vanakker, Olivier M, Coucke, Paul J, De Paepe, Anne M, Bodemer, Christine
Published in Orphanet journal of rare diseases (25.02.2013)
Published in Orphanet journal of rare diseases (25.02.2013)
Get full text
Journal Article
Aberrant methylation of candidate tumor suppressor genes in neuroblastoma
Hoebeeck, Jasmien, Michels, Evi, Pattyn, Filip, Combaret, Valérie, Vermeulen, Joëlle, Yigit, Nurten, Hoyoux, Claire, Laureys, Geneviève, Paepe, Anne De, Speleman, Frank, Vandesompele, Jo
Published in Cancer letters (18.01.2009)
Published in Cancer letters (18.01.2009)
Get full text
Journal Article
FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation
De Baere, Elfride, Beysen, Diane, Oley, Christine, Lorenz, Birgit, Cocquet, Julie, De Sutter, Paul, Devriendt, Koen, Dixon, Michael, Fellous, Marc, Fryns, Jean-Pierre, Garza, Arturo, Jonsrud, Christoffer, Koivisto, Pasi A., Krause, Amanda, Leroy, Bart P., Meire, Françoise, Plomp, Astrid, Van Maldergem, Lionel, De Paepe, Anne, Veitia, Reiner, Messiaen, Ludwine
Published in American journal of human genetics (01.02.2003)
Published in American journal of human genetics (01.02.2003)
Get full text
Journal Article
Osteogenesis imperfecta
Marini, Joan C., Forlino, Antonella, Bächinger, Hans Peter, Bishop, Nick J., Byers, Peter H., Paepe, Anne De, Fassier, Francois, Fratzl-Zelman, Nadja, Kozloff, Kenneth M., Krakow, Deborah, Montpetit, Kathleen, Semler, Oliver
Published in Nature reviews. Disease primers (18.08.2017)
Published in Nature reviews. Disease primers (18.08.2017)
Get full text
Journal Article
A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum
Le Saux, Olivier, Beck, Konstanze, Sachsinger, Christine, Silvestri, Chiara, Treiber, Carina, Göring, Harald H.H., Johnson, Eric W., De Paepe, Anne, Pope, F. Michael, Pasquali-Ronchetti, Ivonne, Bercovitch, Lionel, Terry, Sharon, Boyd, Charles D.
Published in American journal of human genetics (01.10.2001)
Published in American journal of human genetics (01.10.2001)
Get full text
Journal Article
Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene
Colige, Alain, Nuytinck, Lieve, Hausser, Ingrid, van Essen, Anthonie J., Thiry, Marc, Herens, Christian, Adès, Lesley C., Malfait, Fransiska, Paepe, Anne De, Franck, Peter, Wolff, Gerhard, Oosterwijk, Jan C., Sillevis Smitt, J.H., Lapière, Charles M., Nusgens, Betty V.
Published in Journal of investigative dermatology (01.10.2004)
Published in Journal of investigative dermatology (01.10.2004)
Get full text
Journal Article
Web Resource
The revised Ghent nosology for the Marfan syndrome
Loeys, Bart L, Dietz, Harry C, Braverman, Alan C, Callewaert, Bert L, De Backer, Julie, Devereux, Richard B, Hilhorst-Hofstee, Yvonne, Jondeau, Guillaume, Faivre, Laurence, Milewicz, Dianna M, Pyeritz, Reed E, Sponseller, Paul D, Wordsworth, Paul, De Paepe, Anne M
Published in Journal of medical genetics (01.07.2010)
Published in Journal of medical genetics (01.07.2010)
Get full text
Journal Article