Rearrangements of Human Mitochondrial DNA (mtDNA): New Insights into the Regulation of mtDNA Copy Number and Gene Expression

door Tang, Yingying, Schon, Eric A., Wilichowski, Ekkehard, Vazquez-Memije, Martel E., Davidson, Edgar, King, Michael P.
Gepubliceerd in 2000

Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome)

door Brinckmann, Anja, Weiss, Claudia, Wilbert, Friederike, von Moers, Arpad, Zwirner, Angelika, Stoltenburg-Didinger, Gisela, Wilichowski, Ekkehard, Schuelke, Markus
Gepubliceerd in 2010

Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

door Auber, Bernd, Bruemmer, Verena, Zoll, Barbara, Burfeind, Peter, Boehm, Detlef, Liehr, Thomas, Brockmann, Knut, Wilichowski, Ekkehard, Argyriou, Loukas, Bartels, Iris
Gepubliceerd in 2009

Functional Consequences of Mitochondrial DNA Deletions in Human Skin Fibroblasts : Increased Contractile Strength in Collagen Lattices Is Due to Oxidative Stress-Induced Lysyl Oxid...

door Majora, Marc, Wittkampf, Tanja, Schuermann, Bianca, Schneider, Maren, Franke, Susanne, Grether-Beck, Susanne, Wilichowski, Ekkehard, Bernerd, Françoise, Schroeder, Peter, Krutmann, Jean
Gepubliceerd in 2009

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

door Reinert, Marie-Christine, Pacheu-Grau, David, Catarino, Claudia B., Klopstock, Thomas, Ohlenbusch, Andreas, Schittkowski, Michael, Wilichowski, Ekkehard, Rehling, Peter, Brockmann, Knut
Gepubliceerd in Orphanet J Rare Dis (2021)

Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, dou...

door Dittrich, Sven, Graf, Erika, Trollmann, Regina, Neudorf, Ulrich, Schara, Ulrike, Heilmann, Antje, von der Hagen, Maja, Stiller, Brigitte, Kirschner, Janbernd, Pozza, Robert Dalla, Müller-Felber, Wolfgang, Weiss, Katja, von Au, Katja, Khalil, Markus, Motz, Reinald, Korenke, Christoph, Lange, Martina, Wilichowski, Ekkehard, Pattathu, Joseph, Ebinger, Friedrich, Wiechmann, Nicola, Schröder, Rolf
Gepubliceerd in Orphanet J Rare Dis (2019)

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

door Yap, Zheng Yie, Park, Yo Han, Wortmann, Saskia B., Gunning, Adam C., Ezer, Shlomit, Lee, Sukyeong, Duraine, Lita, Wilichowski, Ekkehard, Wilson, Kate, Mayr, Johannes A., Wagner, Matias, Li, Hong, Kini, Usha, Black, Emily Davis, Monaghan, Kristin G., Lupski, James R., Ellard, Sian, Westphal, Dominik S., Harel, Tamar, Yoon, Wan Hee
Gepubliceerd in Genome Med (2021)

Survival among Children with “Lethal” Congenital Contracture Syndrome 11 Caused by Novel Mutations in the Gliomedin Gene (GLDN)

door Wambach, Jennifer A., Stettner, Georg M., Haack, Tobias B., Writzl, Karin, Škofljanec, Andreja, Maver, Aleš, Munell, Francina, Ossowski, Stephan, Bosio, Mattia, Wegner, Daniel J., Shinawi, Marwan, Baldridge, Dustin, Alhaddad, Bader, Strom, Tim M., Grange, Dorothy K., Wilichowski, Ekkehard, Troxell, Robin, Collins, James, Warner, Barbara B., Schmidt, Robert E., Pestronk, Alan, Cole, F. Sessions, Steinfeld, Robert
Gepubliceerd in Hum Mutat (2017)

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

door Huemer, Martina, Karall, Daniela, Schossig, Anna, Abdenur, Jose E., Jasmi, Fatma Al, Biagosch, Caroline, Distelmaier, Felix, Freisinger, Peter, Graham, Brett H., Haack, Tobias B., Hauser, Natalie, Hertecant, Jozef, Ebrahimi-Fakhari, Darius, Konstantopoulou, Vassiliki, Leydiker, Karen, Lourenco, Charles M., Scholl-Bürgi, Sabine, Wilichowski, Ekkehard, Wolf, Nicole I., Wortmann, Saskia B., Taylor, Robert W., Mayr, Johannes A., Bonnen, Penelope E., Sperl, Wolfgang, Prokisch, Holger, McFarland, Robert
Gepubliceerd in J Inherit Metab Dis (2015)

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series

door Villar-Quiles, Rocio N., von der Hagen, Maja, Métay, Corinne, Gonzalez, Victoria, Donkervoort, Sandra, Bertini, Enrico, Castiglioni, Claudia, Chaigne, Denys, Colomer, Jaume, Cuadrado, Maria Luz, de Visser, Marianne, Desguerre, Isabelle, Eymard, Bruno, Goemans, Nathalie, Kaindl, Angela, Lagrue, Emmanuelle, Lütschg, Jürg, Malfatti, Edoardo, Mayer, Michèle, Merlini, Luciano, Orlikowski, David, Reuner, Ulrike, Salih, Mustafa A., Schlotter-Weigel, Beate, Stoetter, Mechthild, Straub, Volker, Topaloglu, Haluk, Urtizberea, J. Andoni, van der Kooi, Anneke, Wilichowski, Ekkehard, Romero, Norma B., Fardeau, Michel, Bönnemann, Carsten G., Estournet, Brigitte, Richard, Pascale, Quijano-Roy, Susana, Schara, Ulrike, Ferreiro, Ana
Gepubliceerd in Neurology (2020)

Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

door Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, OÖzge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardier, Brigitte, Hogue, Jacob S., Longman, Cheryl, Eymard, Bruno, Frydman, Moshe, Kang, Peter B., Klinge, Lars, Kolski, Hanna, Lochmüller, Hans, Magy, Laurent, Manel, Véronique, Mayer, Michèle, Mercuri, Eugenio, North, Kathryn N., Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, de Visser, Marianne, Wilichowski, Ekkehard, Winer, John, Nowak, Kristen, Laing, Nigel G., Winder, Tom L., Monnier, Nicole, Clarke, Nigel F., Pelin, Katarina, Grönholm, Mikaela, Wallgren-Pettersson, Carina
Gepubliceerd in 2014

Making sense of missense variants in TTN-related congenital myopathies

door Rees, Martin, Nikoopour, Roksana, Fukuzawa, Atsushi, Kho, Ay Lin, Fernandez-Garcia, Miguel A., Wraige, Elizabeth, Bodi, Istvan, Deshpande, Charu, Özdemir, Özkan, Daimagüler, Hülya-Sevcan, Pfuhl, Mark, Holt, Mark, Brandmeier, Birgit, Grover, Sarah, Fluss, Joël, Longman, Cheryl, Farrugia, Maria Elena, Matthews, Emma, Hanna, Michael, Muntoni, Francesco, Sarkozy, Anna, Phadke, Rahul, Quinlivan, Ros, Oates, Emily C., Schröder, Rolf, Thiel, Christian, Reimann, Jens, Voermans, Nicol, Erasmus, Corrie, Kamsteeg, Erik-Jan, Konersman, Chaminda, Grosmann, Carla, McKee, Shane, Tirupathi, Sandya, Moore, Steven A., Wilichowski, Ekkehard, Hobbiebrunken, Elke, Dekomien, Gabriele, Richard, Isabelle, Van den Bergh, Peter, Domínguez-González, Cristina, Cirak, Sebahattin, Ferreiro, Ana, Jungbluth, Heinz, Gautel, Mathias
Gepubliceerd in Acta Neuropathol (2021)

Developing Standardized Corticosteroid Treatment for Duchenne Muscular Dystrophy

door Guglieri, Michela, Bushby, Kate, McDermott, Michael P., Hart, Kimberly A., Tawil, Rabi, Martens, William B., Herr, Barbara E., McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M., Eagle, Michele, Brown, Mary W., Willis, Tracey, Hirtz, Deborah, Shieh, Perry B., Straub, Volker, Childs, Anne-Marie, Ciafaloni, Emma, Butterfield, Russell J., Horrocks, Iain, Spinty, Stefan, Flanigan, Kevin M., Kuntz, Nancy L., Baranello, Giovanni, Roper, Helen, Morrison, Leslie, Mah, Jean K., Manzur, Adnan Y., McDonald, Craig M., Schara, Ulrike, von der Hagen, Maja, Barohn, Richard J., Campbell, Craig, Darras, Basil T., Finkel, Richard S., Vita, Giuseppe, Hughes, Imelda, Mongini, Tiziana, Pegoraro, Elena, Wicklund, Matthew, Wilichowski, Ekkehard, Burnette, W. Bryan, Howard, James F., McMillan, Hugh J., Thangarajh, Mathula, Griggs, Robert C.
Gepubliceerd in Contemp Clin Trials (2017)

A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial

door Crow, Rebecca A., Hart, Kimberly A., McDermott, Michael P., Tawil, Rabi, Martens, William B., Herr, Barbara E., McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M., Eagle, Michele, Brown, Mary W., Hirtz, Deborah, Lochmuller, Hanns, Straub, Volker, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Childs, Anne-Marie, Manzur, Adnan Y., Morandi, Lucia, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Flanigan, Kevin M., Kuntz, Nancy L., Mah, Jean K., Morrison, Leslie, Darras, Basil T., von der Hagen, Maja, Schara, Ulrike, Wilichowski, Ekkehard, Mongini, Tiziana, McDonald, Craig M., Vita, Giuseppe, Barohn, Richard J., Finkel, Richard S., Wicklund, Matthew, McMillan, Hugh J., Hughes, Imelda, Pegoraro, Elena, Bryan Burnette, W., Howard, James F., Thangarajh, Mathula, Campbell, Craig, Griggs, Robert C., Bushby, Kate, Guglieri, Michela
Gepubliceerd in Trials (2018)

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

door Paine, Ingrid, Posey, Jennifer E., Grochowski, Christopher M., Jhangiani, Shalini N., Rosenheck, Sarah, Kleyner, Robert, Marmorale, Taylor, Yoon, Margaret, Wang, Kai, Robison, Reid, Cappuccio, Gerarda, Pinelli, Michele, Magli, Adriano, Coban Akdemir, Zeynep, Hui, Joannie, Yeung, Wai Lan, Wong, Bibiana K.Y., Ortega, Lucia, Bekheirnia, Mir Reza, Bierhals, Tatjana, Hempel, Maja, Johannsen, Jessika, Santer, René, Aktas, Dilek, Alikasifoglu, Mehmet, Bozdogan, Sevcan, Aydin, Hatip, Karaca, Ender, Bayram, Yavuz, Ityel, Hadas, Dorschner, Michael, White, Janson J., Wilichowski, Ekkehard, Wortmann, Saskia B., Casella, Erasmo B., Kitajima, Joao Paulo, Kok, Fernando, Monteiro, Fabiola, Muzny, Donna M., Bamshad, Michael, Gibbs, Richard A., Sutton, V. Reid, Van Esch, Hilde, Brunetti-Pierri, Nicola, Hildebrandt, Friedhelm, Brautbar, Ariel, Van den Veyver, Ignatia B., Glass, Ian, Lessel, Davor, Lyon, Gholson J., Lupski, James R.
Gepubliceerd in Am J Hum Genet (2019)