Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy
Tiet, M., Fernandez-Torrón, R., Bourke, J., Bettinson, K., Harris, E., Hilsden, H., Spuler, S., Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., Walter, M.C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz Manera, J., Pegoraro, E., Mendell, J.R., Bushby, K., Straub, V.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
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G.P.256
Schreiber, O, Krause, S, Thiele, S, Kiel, M, Vorgerd, M, Schmidt, J, Walter, M.C
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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P541: The impact of spinal muscular atrophies with regard to patients’ quality of life: a socio-economic analysis of a German patient cohort
Schreiber, O, Klug, C, Thiele, S, Herrmann, C, Zowe, J, Reilich, P, Nagels, K, Walter, M.C
Published in Clinical neurophysiology (01.06.2014)
Published in Clinical neurophysiology (01.06.2014)
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G.P.166
Schreiber, O, Klug, C, Thiele, S, Schorling, E, Zowe, J, Reilich, P, Nagels, K, Walter, M.C
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Evaluation of Cost Of Illness (COI) and health care burden in Spinal Muscular Atrophies (SMA)
Klug, C, Thiele, S, Herrmann, C, Zowe, J, Reilich, P, Nagels, K, Walter, M.C
Published in Journal of the neurological sciences (15.10.2013)
Published in Journal of the neurological sciences (15.10.2013)
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G.P.82
Walter, M.C, Klymiuk, N, Blutke, A, Graf, A, Krause, S, Wuensch, A, Krebs, S, Kessler, B, Zakhartchenko, V, Kurome, M, Kemter, E, Nagashima, H, Schoser, B, Herbach, N, Blum, H, Wanke, R, Aartsma-Rus, A, Lochmuller, H, Wolf, E
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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G.P.123 Identification of molecular effects of FHL1 mutations on protein assembly in reducing body myopathy
Kubny, C, Bulst, S, Levin, J, Krause, S, Schoser, B, Giese, A, Walter, M.C, Schessl, J
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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P5.53 The C224W FHL1 mutation is causing a protein aggregation disorder of muscle: Two brothers revisited
Feldkirchner, S, Walter, M.C, Kubny, C, Mueller, S, Kress, W, Hanisch, F.G, Schoser, B, Schessl, J
Published in Neuromuscular disorders : NMD (01.10.2011)
Published in Neuromuscular disorders : NMD (01.10.2011)
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P75 Muscle MRI findings in LGMD2L
Sarkozy, A, Hicks, P, Miller, J, Walter, M.C, Reilich, P, Radunovic, A, Vaidya, S.S, Lochmüller, H, Bushby, K, Straub, V
Published in Neuromuscular disorders : NMD (2011)
Published in Neuromuscular disorders : NMD (2011)
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P4.27 Muscle MRI findings in anoctaminopathy
Sarkozy, A, Hicks, D, Miller, J, Walter, M.C, Reilich, P, Lochmuller, H, Bushby, K, Straub, V
Published in Neuromuscular disorders : NMD (01.10.2010)
Published in Neuromuscular disorders : NMD (01.10.2010)
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P64 Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment
Horvath, R, Reilich, P, Krause, S, Turnbull, D.M, Trenell, M, Hollingsworth, K.G, Gorman, G.S, Czermin, B, Holinski-Feder, E, Walter, M.C, Schoser, B, Lochmüller, H
Published in Neuromuscular disorders : NMD (2011)
Published in Neuromuscular disorders : NMD (2011)
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G.P.14.12 Phenotype of three putative novel limb girdle muscular dystrophies (LGMD) – Exclusion of all known LGMD loci with microsatellite analysis
von der Hagen, M, Walter, M.C, Lochmueller, H, Bushby, K.M.D, Vorgerd, M, Huebner, A
Published in Neuromuscular disorders : NMD (01.10.2008)
Published in Neuromuscular disorders : NMD (01.10.2008)
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P63 A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy
Hicks, P, Sarkozy, A, Muelas, N, Koehler, K, Huebner, A, Hudson, G, Chinnery, P.F, Barresi, R, Eagle, M, Polvikoski, T, Bailey, G, Miller, J, Radunovic, A, Hughes, P.J, Roberts, R, Krause, S, Walter, M.C, Laval, S.H, Straub, V, Lochmüller, H, Bushby, K
Published in Neuromuscular disorders : NMD (2011)
Published in Neuromuscular disorders : NMD (2011)
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D.P.3.05 Molecular pathogenesis of hereditary inclusion body myopathies
Krause, S, Garcia-Angarita, N, Aleo, A, Hinderlich, S, Walter, M.C, Mitrani-Rosenbaum, S, Hoppe, T, Lochmuller, H
Published in Neuromuscular disorders : NMD (01.10.2008)
Published in Neuromuscular disorders : NMD (01.10.2008)
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P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family
Horvath, R, Kemp, J.P, Tuppen, H.A.L, Hudson, G, Pyle, A, Holinski-Feder, E, Abicht, A, Czermin, B, Walter, M.C, Günther-Scholz, A, Smith, P.M, McFarland, R, Chrzanowska-Lightowlers, Z.M.A, Lightowlers, R.N, Lochmüller, H, Taylor, R.W, Chinnery, P.F
Published in Neuromuscular disorders : NMD (01.03.2010)
Published in Neuromuscular disorders : NMD (01.03.2010)
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Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein
Krause, S, Göhringer, T, Walter, M C, Schoser, B G H, Reilich, P, Linn, J, Pöpperl, G E, Frölich, L, Hentschel, F, Lochmüller, H, Danek, A
Published in Clinical neuropathology (01.09.2007)
Published in Clinical neuropathology (01.09.2007)
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Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy
Moretti, A., Fonteyne, L., Giesert, F., Hoppmann, P., Meier, A. B., Bozoglu, T., Baehr, A., Schneider, C. M., Sinnecker, D., Klett, K., Fröhlich, T., Rahman, F. Abdel, Haufe, T., Sun, S., Jurisch, V., Kessler, B., Hinkel, R., Dirschinger, R., Martens, E., Jilek, C., Graf, A., Krebs, S., Santamaria, G., Kurome, M., Zakhartchenko, V., Campbell, B., Voelse, K., Wolf, A., Ziegler, T., Reichert, S., Lee, S., Flenkenthaler, F., Dorn, T., Jeremias, I., Blum, H., Dendorfer, A., Schnieke, A., Krause, S., Walter, M. C., Klymiuk, N., Laugwitz, K. L., Wolf, E., Wurst, W., Kupatt, C.
Published in Nature medicine (01.02.2020)
Published in Nature medicine (01.02.2020)
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