Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations
Rajab, Anna, Straub, Volker, McCann, Liza J, Seelow, Dominik, Varon, Raymonda, Barresi, Rita, Schulze, Anne, Lucke, Barbara, Lützkendorf, Susanne, Karbasiyan, Mohsen, Bachmann, Sebastian, Spuler, Simone, Schuelke, Markus
Published in PLoS genetics (01.03.2010)
Published in PLoS genetics (01.03.2010)
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Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Logan, Clare V, Lucke, Barbara, Pottinger, Caroline, Abdelhamed, Zakia A, Parry, David A, Szymanska, Katarzyna, Diggle, Christine P, van Riesen, Anne, Morgan, Joanne E, Markham, Grace, Ellis, Ian, Manzur, Adnan Y, Markham, Alexander F, Shires, Mike, Helliwell, Tim, Scoto, Mariacristina, Hübner, Christoph, Bonthron, David T, Taylor, Graham R, Sheridan, Eamonn, Muntoni, Francesco, Carr, Ian M, Schuelke, Markus, Johnson, Colin A
Published in Nature genetics (01.12.2011)
Published in Nature genetics (01.12.2011)
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Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)
Kaps, Reinhard, Sperling, Karl, Reis, André, Müller, Dietmar, Cruz, Norberto Sotelo, Olins, Donald E, Lucke, Barbara, Karl, Hartmut, Lindner, Tom H, Herrmann, Harald, Olins, Ada L, Ware, Russell E, Hoffmann, Katrin, Aznar, Justo, Vayá, Amparo, Dreger, Christine K, Shultz, Leonard D
Published in Nature genetics (01.08.2002)
Published in Nature genetics (01.08.2002)
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Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil
Knierim, Ellen, Leisle, Lilia, Wagner, Christiane, Weschke, Bernhard, Lucke, Barbara, Bohner, Georg, Dreier, Jens P, Schuelke, Markus
Published in Stroke (1970) (01.02.2011)
Published in Stroke (1970) (01.02.2011)
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Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
Lucke, Barbara, Leonhardt-Horti, Hajnalka, Wienker, Thomas F, Diers, Alexander, Bertini, Enrico, Ouvrier, Robert, Van Maldergem, Lionel, Pfeufer, Arne, Hübner, Christoph, Schuelke, Markus, Adams, Coleen, Sendtner, Michael, Zerres, Klaus, Rossi, Rainer, Wilmshurst, Jo M, Muntoni, Francesco, Rudnik-Schöneborn, Sabine, Grohmann, Katja, Hoffmann, Katrin
Published in Nature genetics (01.09.2001)
Published in Nature genetics (01.09.2001)
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Recurrent Stroke Due to a Novel Voltage Sensor Mutation in Ca v 2.1 Responds to Verapamil
Knierim, Ellen, Leisle, Lilia, Wagner, Christiane, Weschke, Bernhard, Lucke, Barbara, Bohner, Georg, Dreier, Jens P., Schuelke, Markus
Published in Stroke (1970) (01.02.2011)
Published in Stroke (1970) (01.02.2011)
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Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations: e1000874
Rajab, Anna, Straub, Volker, McCann, Liza J, Seelow, Dominik, Varon, Raymonda, Barresi, Rita, Schulze, Anne, Lucke, Barbara, Lützkendorf, Susanne, Karbasiyan, Mohsen, Bachmann, Sebastian, Spuler, Simone, Schuelke, Markus
Published in PLoS genetics (01.03.2010)
Published in PLoS genetics (01.03.2010)
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Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system
Janssen, Antoon J. M., Schuelke, Markus, Smeitink, Jan A. M., Trijbels, Frans J. M., Sengers, Rob C. A., Lucke, Barbara, Wintjes, Liesbeth T. M., Morava, Eva, van Engelen, Baziel G. M., Smits, Bart W., Hol, Frans A., Siers, Marloes H., Ter Laak, Henk, van der Knaap, Marjo S., Van Spronsen, Francjan J., Rodenburg, Richard J. T., van den Heuvel, Lambert P.
Published in Annals of neurology (01.04.2008)
Published in Annals of neurology (01.04.2008)
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A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany
Hoffmann, Katrin, Planitz, Christian, Rüschendorf, Franz, Müller-Myhsok, Bertram, Stassen, Hans H, Lucke, Barbara, Mattheisen, Manuel, Stumvoll, Michael, Bochmann, Rolf, Zschornack, Martin, Wienker, Thomas F, Nürnberg, Peter, Reis, André, Luft, Friedrich C, Lindner, Tom H
Published in Journal of hypertension (01.05.2009)
Published in Journal of hypertension (01.05.2009)
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De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease
Brinckmann, Anja, Rüther, Klaus, Williamson, Kathleen, Lorenz, Birgit, Lucke, Barbara, Nürnberg, Peter, Trijbels, Frans, Janssen, Antoon, Schuelke, Markus
Published in Journal of molecular medicine (Berlin, Germany) (01.02.2007)
Published in Journal of molecular medicine (Berlin, Germany) (01.02.2007)
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De novo double mutation in PAX6 and mtDNA tRNA Lys associated with atypical aniridia and mitochondrial disease
Brinckmann, Anja, Rüther, Klaus, Williamson, Kathleen, Lorenz, Birgit, Lucke, Barbara, Nürnberg, Peter, Trijbels, Frans, Janssen, Antoon, Schuelke, Markus
Published in Journal of molecular medicine (Berlin, Germany) (01.02.2007)
Published in Journal of molecular medicine (Berlin, Germany) (01.02.2007)
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De novo double mutation in PAX6 and mtDNA tRNALys associated with atypical aniridia and mitochondrial disease
BRINCKMANN, Anja, RÜTHER, Klaus, WILLIAMSON, Kathleen, LORENZ, Birgit, LUCKE, Barbara, NÜRNBERG, Peter, TRIJBELS, Frans, JANSSEN, Antoon, SCHUELKE, Markus
Published in Journal of molecular medicine (Berlin, Germany) (2007)
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Published in Journal of molecular medicine (Berlin, Germany) (2007)
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Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2–q34.2 by total genome search for linkage
Wolf, Matthias T. F., Zalewski, Isabella, Martin, Félix Claverie, Ruf, Rainer, Müller, Dominik, Hennies, Hans C., Schwarz, Stella, Panther, Franziska, Attanasio, Massimo, Acosta, Hilaria G., Imm, Anita, Lucke, Barbara, Utsch, Boris, Otto, Edgar, Nurnberg, Peter, Nieto, Victor Garcia, Hildebrandt, Friedhelm
Published in Nephrology, dialysis, transplantation (01.05.2005)
Published in Nephrology, dialysis, transplantation (01.05.2005)
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A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2
RUF, Rainer G, WOLF, Matthias T. F, LENNERT, Thomas, FUCHSHUBER, Arno, NURNBERG, Peter, HILDEBRANDT, Friedhelm, HENNIES, Hans C, LUCKE, Barbara, ZINN, Christina, VARNHOLT, Verena, LICHTENBERGER, Anne, PASCH, Andreas, IMM, Anita, BRIESE, Sonia
Published in Journal of the American Society of Nephrology (01.06.2003)
Published in Journal of the American Society of Nephrology (01.06.2003)
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Mutations in the gene encoding immunoglobulin [mu]-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
Grohmann, Katja, Schuelke, Markus, Diers, Alexander, Hoffmann, Katrin, Lucke, Barbara, Adams, Coleen, Bertini, Enrico, Leonhardt-Horti, Hajnalka, Muntoni, Francesco, Ouvrier, Robert, Pfeufer, Arne, Rossi, Rainer, Lionel Van Maldergem, Wilmshurst, Jo M
Published in Nature genetics (01.09.2001)
Published in Nature genetics (01.09.2001)
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Mutations in the gene encoding immunoglobulin k-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
Grohmann, Katja, Schuelke, Markus, Diers, Alexander, Hoffmann, Katrin, Lucke, Barbara, Adams, Coleen, Bertini, Enrico, Leonhardt-Horti, Hajnalka, Muntoni, Francesco, Ouvrier, Robert, Pfeufer, Arne, Rossi, Rainer, Van Maldergem, Lionel, Wilmshurst, Jo M, Wienker, Thomas F, Sendtner, Michael, Rudnik-Schoeneborn, Sabine, Zerres, Klaus, Huebner, Christoph
Published in Nature genetics (01.09.2001)
Published in Nature genetics (01.09.2001)
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