224th ENMC International Workshop: Tập 28 Số 1 - Trang 87-99 - 2018
Yves Allenbach, Andrew L. Mammen, Olivier Benveniste, Werner Stenzel, Anthony A. Amato, Audrey Aussey, Jan De Bleecker, Ingrid de Groot, Marjolein Visser, Hans H. Goebel, B. Hervier, Norina Fischer, David Hilton‐Jones, Janine A. Lamb, Ingrid E. Lundberg, Tahseen Mozaffar, Ichizo Nishino, Alan Pestronk, Ulrike Schara, Werner Stenzelr
229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017 Tập 28 Số 8 - Trang 702-710 - 2018
Volker Straub, Alexander Peter Murphy, Bjarne Udd, C. Angelini, Ségolène Aymé, Carsten Bönneman, Marianne de Visser, Ada Hamosh, Laura Jacobs, Nina Khizanishvili, Madelon Kroneman, Pascal Laflorêt, A. St. J. Murphy, Vincenzo Nigro, Laura Rufibach, Anna Sárközy, Shaun Swanepoel, Ivan Torrente, Andoni Urtizberea, John Vissing, Maggie C. Walter
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations Tập 16 Số 9-10 - Trang 571-582 - 2006
C. Jiménez-Mallebrera, Maria Antonietta Maioli, Jihee Kim, S. Brown, Lucy Feng, Anne Katrin Lampe, Kate Bushby, Debbie Hicks, Kevin M. Flanigan, Carsten G. Bönnemann, Caroline A. Sewry, Francesco Muntoni
Deficiency of mitochondrial ATP synthase of nuclear genetic origin Tập 16 Số 12 - Trang 821-829 - 2006
Wolfgang Sperl, Pavel Ješina, J Zeman, Johannes A. Mayr, L. DeMeirleir, R. Vancoster, Andrea Pı́cková, Hana Hansı́ková, H Houst'ková, Zdeněk Krejčík, Johannes Koch, Joél Smet, Wolfgang Muss, Elisabeth Holme, J Houštěk