Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome von Schottmann, Gudrun, Martínez Almudéver, Carmen, Knop, Julia C M, Suk, Eun Kyung, Meyer, Zianka, Kohlhase, Jürgen, Himmelreich, Nastassja, Kühnisch, Jirko, Ott, Claus-Eric, Seifert, Wenke

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MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis von Schottmann, Gudrun, Wagner, Christiane, Seifert, Franziska, Stenzel, Werner, Schuelke, Markus

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Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis von Gusic, Mirjana, Schottmann, Gudrun, Feichtinger, René G., Du, Chen, Scholz, Caroline, Wagner, Matias, Mayr, Johannes A., Lee, Chae-Young, Yépez, Vicente A., Lorenz, Norbert, Morales-Gonzalez, Susanne, Panneman, Daan M., Rötig, Agnès, Rodenburg, Richard J.T., Wortmann, Saskia B., Prokisch, Holger, Schuelke, Markus

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Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures von Knierim, Ellen, Hirata, Hiromi, Wolf, Nicole I., Morales-Gonzalez, Susanne, Schottmann, Gudrun, Tanaka, Yu, Rudnik-Schöneborn, Sabine, Orgeur, Mickael, Zerres, Klaus, Vogt, Stefanie, van Riesen, Anne, Gill, Esther, Seifert, Franziska, Zwirner, Angelika, Kirschner, Janbernd, Goebel, Hans Hilmar, Hübner, Christoph, Stricker, Sigmar, Meierhofer, David, Stenzel, Werner, Schuelke, Markus

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Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein–associated neurodegeneration von Dusek, Petr, Mekle, Ralf, Skowronska, Marta, Acosta‐Cabronero, Julio, Huelnhagen, Till, Robinson, Simon Daniel, Schubert, Florian, Deschauer, Marcus, Els, Antje, Ittermann, Bernd, Schottmann, Gudrun, Madai, Vince I., Paul, Friedemann, Klopstock, Thomas, Kmiec, Tomasz, Niendorf, Thoralf, Wuerfel, Jens, Schneider, Susanne A.

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A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene von Schottmann, Gudrun, Sarpong, Akosua, Lorenz, Carmen, Weinhold, Natalie, Gill, Esther, Teschner, Lisa, Ferdinandusse, Sacha, Wanders, Ronald J. A., Prigione, Alessandro, Schuelke, Markus

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TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies von Powell, Christopher A., Kopajtich, Robert, D’Souza, Aaron R., Rorbach, Joanna, Kremer, Laura S., Husain, Ralf A., Dallabona, Cristina, Donnini, Claudia, Alston, Charlotte L., Griffin, Helen, Pyle, Angela, Chinnery, Patrick F., Strom, Tim M., Meitinger, Thomas, Rodenburg, Richard J., Schottmann, Gudrun, Schuelke, Markus, Romain, Nadine, Haller, Ronald G., Ferrero, Ileana, Haack, Tobias B., Taylor, Robert W., Prokisch, Holger, Minczuk, Michal

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Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia von Schottmann, Gudrun, Picker-Minh, Sylvie, Schwarz, Jana Marie, Gill, Esther, Rodenburg, Richard J T, Stenzel, Werner, Kaindl, Angela M, Schuelke, Markus

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Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy von Schottmann, Gudrun, Jungbluth, Heinz, Schara, Ulrike, Knierim, Ellen, Morales Gonzalez, Susanne, Gill, Esther, Seifert, Franziska, Norwood, Fiona, Deshpande, Charu, von Au, Katja, Schuelke, Markus, Senderek, Jan

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Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening von Haack, Tobias B., Gorza, Matteo, Danhauser, Katharina, Mayr, Johannes A., Haberberger, Birgit, Wieland, Thomas, Kremer, Laura, Strecker, Valentina, Graf, Elisabeth, Memari, Yasin, Ahting, Uwe, Kopajtich, Robert, Wortmann, Saskia B., Rodenburg, Richard J., Kotzaeridou, Urania, Hoffmann, Georg F., Sperl, Wolfgang, Wittig, Ilka, Wilichowski, Ekkehard, Schottmann, Gudrun, Schuelke, Markus, Plecko, Barbara, Stephani, Ulrich, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger, Freisinger, Peter

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Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome von Horn, Denise, Schottmann, Gudrun, Meinecke, Peter

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Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects von Straussberg, Rachel, Schottmann, Gudrun, Sadeh, Menachem, Gill, Esther, Seifert, Franziska, Halevy, Ayelet, Qassem, Kaiyal, Rendu, John, van der Ven, Peter F. M., Stenzel, Werner, Schuelke, Markus

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Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement von Haack, Tobias B., Jackson, Christopher B., Murayama, Kei, Kremer, Laura S., Schaller, André, Kotzaeridou, Urania, Vries, Maaike C., Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Thomas, Graf, Elisabeth, Freisinger, Peter, Eggimann, Sandra, Ohtake, Akira, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Sauer, Sascha, Memari, Yasin, Kolb‐Kokocinski, Anja, Durbin, Richard, Hasselmann, Oswald, Cremer, Kirsten, Albrecht, Beate, Wieczorek, Dagmar, Engels, Hartmut, Hahn, Dagmar, Zink, Alexander M., Alston, Charlotte L., Taylor, Robert W., Rodenburg, Richard J., Trollmann, Regina, Sperl, Wolfgang, Strom, Tim M., Hoffmann, Georg F., Mayr, Johannes A., Meitinger, Thomas, Bolognini, Ramona, Schuelke, Markus, Nuoffer, Jean‐Marc, Kölker, Stefan, Prokisch, Holger, Klopstock, Thomas

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Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy von Schottmann, Gudrun, Seelow, Dominik, Seifert, Franziska, Morales-Gonzalez, Susanne, Gill, Esther, von Au, Katja, von Moers, Arpad, Stenzel, Werner, Schuelke, Markus

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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective? von Repp, Birgit M, Mastantuono, Elisa, Alston, Charlotte L, Schiff, Manuel, Haack, Tobias B, Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert JM, Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus FM, Moroni, Isabella, Smet, Joél, Mayr, Johannes A, Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W, Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia

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Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening von Haack, Tobias B, Gorza, Matteo, Danhauser, Katharina, Mayr, Johannes A, Haberberger, Birgit, Wieland, Thomas, Kremer, Laura, Strecker, Valentina, Graf, Elisabeth, Memari, Yasin, Ahting, Uwe, Kopajtich, Robert, Wortmann, Saskia B, Rodenburg, Richard J, Kotzaeridou, Urania, Hoffmann, Georg F, Sperl, Wolfgang, Wittig, Ilka, Wilichowski, Ekkehard, Schottmann, Gudrun, Schuelke, Markus, Plecko, Barbara, Stephani, Ulrich, Strom, Tim M, Meitinger, Thomas, Prokisch, Holger, Freisinger, Peter

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Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac involvement von Haack, Tobias B., Jackson, Christopher B., Murayama, Kei, Kremer, Laura S., Schaller, André, Kotzaeridou, Urania, de Vries, Maaike C., Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Thomas, Graf, Elisabeth, Freisinger, Peter, Eggimann, Sandra, Ohtake, Akira, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Sauer, Sascha, Memari, Yasin, Kolb‐Kokocinski, Anja, Durbin, Richard, Hasselmann, Oswald, Cremer, Kirsten, Albrecht, Beate, Wieczorek, Dagmar, Engels, Hartmut, Hahn, Dagmar, Zink, Alexander M., Alston, Charlotte L., Taylor, Robert W., Rodenburg, Richard J., Trollmann, Regina, Sperl, Wolfgang, Strom, Tim M., Hoffmann, Georg F., Mayr, Johannes A., Meitinger, Thomas, Bolognini, Ramona, Schuelke, Markus, Nuoffer, Jean‐Marc, Kölker, Stefan, Prokisch, Holger, Klopstock, Thomas

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Brain Iron and Metabolic Abnormalities in C19orf12 Mutation Carriers: A 7.0 Tesla MRI Study in Mitochondrial Membrane Protein–Associated Neurodegeneration von Dusek, Petr, Mekle, Ralf, Skowronska, Marta, Acosta‐Cabronero, Julio, Huelnhagen, Till, Robinson, Simon Daniel, Schubert, Florian, Deschauer, Marcus, Els, Antje, Ittermann, Bernd, Schottmann, Gudrun, Madai, Vince I, Paul, Friedemann, Klopstock, Thomas, Kmiec, Tomasz, Niendorf, Thoralf, Wuerfel, Jens, Schneider, Susanne A

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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? von Repp, Birgit M, Mastantuono, Elisa, Alston, Charlotte L, Schiff, Manuel, Haack, Tobias B, Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert JM, Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus FM, Moroni, Isabella, Smet, Joél, Mayr, Johannes A, Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W, Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia

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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? von Repp, Birgit M, Mastantuono, Elisa, Alston, Charlotte L, Schiff, Manuel, Haack, Tobias B, Rotig, Agnes, Ardissone, Anna, Lombes, Anne, Catarino, Claudia B, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M, Wittig, Ilka, Scurr, Ingrid, Coo, Irenaeus F. M. de, Moroni, Isabella, Smet, Joel, Mayr, Johannes A, Dai, Lifang, Meirleir, Linda de, Schülke, Markus, Zeviani, Massimo, Morscher, Raphael J, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Coster, Rudy van, Strecker, Valentina, Taylor, Robert W, Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia

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