Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy

Por SCHNEIDER, ILKA, STOLTENBURG, GISELA, DESCHAUER, MARCUS, WINTERHOLLER, MARTIN, HANISCH, FRANK
Publicado em 2014

Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle

Por Campbell, Georgia, Krishnan, Kim J., Deschauer, Marcus, Taylor, Robert W., Turnbull, Doug M.
Publicado em 2014

Oculopharyngeal muscular dystrophy as a rare cause of dysphagia

Por Werling, Sarah, Schrank, Bertold, Eckardt, Alexander J., Hauburger, Anja, Deschauer, Marcus, Müller, Michaela
Publicado no Ann Gastroenterol (2015)

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation

Por Pyle, Angela, Taylor, Robert W, Durham, Steve E, Deschauer, Marcus, Schaefer, Andrew M, Samuels, David C, Chinnery, Patrick F
Publicado em 2007

A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease

Por Lehmann, Diana, Schubert, Kathrin, Joshi, Pushpa R., Baty, Karen, Blakely, Emma L., Zierz, Stephan, Taylor, Robert W., Deschauer, Marcus
Publicado no Neuromuscul Disord (2015)

Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions

Por Lehmann, Diana, Kornhuber, Malte E., Clajus, Carolina, Alston, Charlotte L., Wienke, Andreas, Deschauer, Marcus, Taylor, Robert W., Zierz, Stephan
Publicado no Neurol Genet (2016)

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

Por Larsen, Mirjam, Rost, Simone, El Hajj, Nady, Ferbert, Andreas, Deschauer, Marcus, Walter, Maggie C, Schoser, Benedikt, Tacik, Pawel, Kress, Wolfram, Müller, Clemens R
Publicado no Eur J Hum Genet (2015)

B1-insensitive T2 mapping of healthy thigh muscles using a T2-prepared 3D TSE sequence

Por Klupp, Elisabeth, Weidlich, Dominik, Schlaeger, Sarah, Baum, Thomas, Cervantes, Barbara, Deschauer, Marcus, Kooijman, Hendrik, Rummeny, Ernst J., Zimmer, Claus, Kirschke, Jan S., Karampinos, Dimitrios C.
Publicado no PLoS One (2017)

Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

Por Karabul, Nesrin, Skudlarek, Anika, Berndt, Janine, Kornblum, Cornelia, Kley, Rudolf A., Wenninger, Stephan, Tiling, Nikolaus, Mengel, Eugen, Plöckinger, Ursula, Vorgerd, Matthias, Deschauer, Marcus, Schoser, Benedikt, Hanisch, Frank
Publicado no JIMD Rep (2014)

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

Por Lehmann, Diana, Schubert, Kathrin, Joshi, Pushpa R, Hardy, Steven A, Tuppen, Helen A L, Baty, Karen, Blakely, Emma L, Bamberg, Christian, Zierz, Stephan, Deschauer, Marcus, Taylor, Robert W
Publicado no Eur J Hum Genet (2015)

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial

Por Walter, Maggie C, Reilich, Peter, Thiele, Simone, Schessl, Joachim, Schreiber, Herbert, Reiners, Karlheinz, Kress, Wolfram, Müller-Reible, Clemens, Vorgerd, Matthias, Urban, Peter, Schrank, Bertold, Deschauer, Marcus, Schlotter-Weigel, Beate, Kohnen, Ralf, Lochmüller, Hanns
Publicado em 2013

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

Por Lukacs, Zoltan, Nieves Cobos, Paulina, Wenninger, Stephan, Willis, Tracey A., Guglieri, Michela, Roberts, Marc, Quinlivan, Rosaline, Hilton-Jones, David, Evangelista, Teresinha, Zierz, Stephan, Schlotter-Weigel, Beate, Walter, Maggie C., Reilich, Peter, Klopstock, Thomas, Deschauer, Marcus, Straub, Volker, Müller-Felber, Wolfgang, Schoser, Benedikt
Publicado no Neurology (2016)

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Por Semmler, Anna-Lena, Sacconi, Sabrina, Bach, J Elisa, Liebe, Claus, Bürmann, Jan, Kley, Rudolf A, Ferbert, Andreas, Anderheiden, Roland, Van den Bergh, Peter, Martin, Jean-Jacques, De Jonghe, Peter, Neuen-Jacob, Eva, Müller, Oliver, Deschauer, Marcus, Bergmann, Markus, Schröder, J Michael, Vorgerd, Matthias, Schulz, Jörg B, Weis, Joachim, Kress, Wolfram, Claeys, Kristl G
Publicado no Orphanet J Rare Dis (2014)

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Por Pitceathly, Robert D. S., Smith, Conrad, Fratter, Carl, Alston, Charlotte L., He, Langping, Craig, Kate, Blakely, Emma L., Evans, Julie C., Taylor, John, Shabbir, Zarfishan, Deschauer, Marcus, Pohl, Ute, Roberts, Mark E., Jackson, Matthew C., Halfpenny, Christopher A., Turnpenny, Peter D., Lunt, Peter W., Hanna, Michael G., Schaefer, Andrew M., McFarland, Robert, Horvath, Rita, Chinnery, Patrick F., Turnbull, Douglass M., Poulton, Joanna, Taylor, Robert W., Gorman, Gráinne S.
Publicado em 2012