Correspondence (letter to the editor): Macrophagic Myofasciitis

Por Stenzel, Werner, Heppner, Frank L., Goebel, Hans-Hilmar, Alten, Rieke H. E.
Publicado em 2009

Common Data Elements for Muscle Biopsy Reporting

Por Dastgir, Jahannaz, Rutkowski, Anne, Alvarez, Rachel, Cossette, Stacy A., Yan, Ke, Hoffmann, Raymond G., Sewry, Caroline, Hayashi, Yukiko K., Goebel, Hans-Hilmar, Bonnemann, Carsten, Lawlor, Michael W.
Publicado no Arch Pathol Lab Med (2015)

Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis

Por Preuße, Corinna, Allenbach, Yves, Hoffmann, Olaf, Goebel, Hans-Hilmar, Pehl, Debora, Radke, Josefine, Doeser, Alexandra, Schneider, Udo, Alten, Rieke H.E., Kallinich, Tilmann, Benveniste, Olivier, von Moers, Arpad, Schoser, Benedikt, Schara, Ulrike, Stenzel, Werner
Publicado no Acta Neuropathol Commun (2016)

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

Por 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
Publicado no Am J Hum Genet (2016)

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

Por Schessl, Joachim, Zou, Yaqun, McGrath, Meagan J., Cowling, Belinda S., Maiti, Baijayanta, Chin, Steven S., Sewry, Caroline, Battini, Roberta, Hu, Ying, Cottle, Denny L., Rosenblatt, Michael, Spruce, Lynn, Ganguly, Arupa, Kirschner, Janbernd, Judkins, Alexander R., Golden, Jeffrey A., Goebel, Hans-Hilmar, Muntoni, Francesco, Flanigan, Kevin M., Mitchell, Christina A., Bönnemann, Carsten G.
Publicado em 2008

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1

Por Schessl, Joachim, Taratuto, Ana L., Sewry, Caroline, Battini, Roberta, Chin, Steven S., Maiti, Baijayanta, Dubrovsky, Alberto L., Erro, Marcela G., Espada, Graciela, Robertella, Monica, Saccoliti, Maria, Olmos, Patricia, Bridges, Leslie R., Standring, Peter, Hu, Ying, Zou, Yaqun, Swoboda, Kathryn J., Scavina, Mena, Goebel, Hans-Hilmar, Mitchell, Christina A., Flanigan, Kevin M., Muntoni, Francesco, Bönnemann, Carsten G.
Publicado em 2009

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Por Cullup, Thomas, Kho, Ay L., Dionisi-Vici, Carlo, Brandmeier, Birgit, Smith, Frances, Urry, Zoe, Simpson, Michael A., Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan, Koerner, Christian, Hoffmann, Georg F., Wijburg, Frits A., Hoedt, Amber E. ten, Rogers, Curtis, Manchester, David, Miyata, Rie, Hayashi, Masaharu, Said, Elizabeth, Soler, Doriette, Kroisel, Peter M., Windpassinger, Christian, Filloux, Francis M., Al-Kaabi, Salwa, Hertecant, Jozef, Del Campo, Miguel, Buk, Stefan, Bodi, Istvan, Goebel, Hans-Hilmar, Sewry, Caroline A., Abbs, Stephen, Mohammed, Shehla, Josifova, Dragana, Gautel, Mathias, Jungbluth, Heinz
Publicado em 2012