Resultados de procura - Wilichowski, Ekkehard

Rearrangements of Human Mitochondrial DNA (mtDNA): New Insights into the Regulation of mtDNA Copy Number and Gene Expression por Tang, Yingying, Schon, Eric A., Wilichowski, Ekkehard, Vazquez-Memije, Martel E., Davidson, Edgar, King, Michael P.

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Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome) por Brinckmann, Anja, Weiss, Claudia, Wilbert, Friederike, von Moers, Arpad, Zwirner, Angelika, Stoltenburg-Didinger, Gisela, Wilichowski, Ekkehard, Schuelke, Markus

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Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation por Auber, Bernd, Bruemmer, Verena, Zoll, Barbara, Burfeind, Peter, Boehm, Detlef, Liehr, Thomas, Brockmann, Knut, Wilichowski, Ekkehard, Argyriou, Loukas, Bartels, Iris

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Functional Consequences of Mitochondrial DNA Deletions in Human Skin Fibroblasts: Increased Contractile Strength in Collagen Lattices Is Due to Oxidative Stress-Induced Lysyl Oxida... por Majora, Marc, Wittkampf, Tanja, Schuermann, Bianca, Schneider, Maren, Franke, Susanne, Grether-Beck, Susanne, Wilichowski, Ekkehard, Bernerd, Françoise, Schroeder, Peter, Krutmann, Jean

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Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy por Reinert, Marie-Christine, Pacheu-Grau, David, Catarino, Claudia B., Klopstock, Thomas, Ohlenbusch, Andreas, Schittkowski, Michael, Wilichowski, Ekkehard, Rehling, Peter, Brockmann, Knut

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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... por 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

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Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes por 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

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

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

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

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

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Making sense of missense variants in TTN-related congenital myopathies por 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

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Developing Standardized Corticosteroid Treatment for Duchenne Muscular Dystrophy por 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.

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

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Paralog Studies Augment Gene Discovery: DDX and DHX Genes por 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.

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Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial por Guglieri, Michela, Bushby, Kate, McDermott, Michael P., Hart, Kimberly A., Tawil, Rabi, Martens, William B., Herr, Barbara E., McColl, Elaine, Speed, Chris, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M., Eagle, Michelle, Brown, Mary W., Willis, Tracey, Griggs, Robert C., Straub, Volker, van Ruiten, Henriette, Childs, Anne-Marie, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Maggi, Lorenzo, Baranello, Giovanni, Butterfield, Russell J., Horrocks, I. A., Roper, Helen, Alhaswani, Zoya, Flanigan, Kevin M., Kuntz, Nancy L., Manzur, Adnan, Darras, Basil T., Kang, Peter B., Morrison, Leslie, Krzesniak-Swinarska, Monika, Mah, Jean K., Mongini, Tiziana E., Ricci, Federica, von der Hagen, Maja, Finkel, Richard S., O’Reardon, Kathleen, Wicklund, Matthew, Kumar, Ashutosh, McDonald, Craig M., Han, Jay J., Joyce, Nanette, Henricson, Erik K., Schara-Schmidt, Ulrike, Gangfuss, Andrea, Wilichowski, Ekkehard, Barohn, Richard J., Statland, Jeffrey M., Campbell, Craig, Vita, Giuseppe, Vita, Gian Luca, Howard, James F., Hughes, Imelda, McMillan, Hugh J., Pegoraro, Elena, Bello, Luca, Burnette, W. Bryan, Thangarajh, Mathula, Chang, Taeun

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