Search Results - "Bulst, S" :: K.UTB vyhledávací portál

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P

by Walter, M. C., Reilich, P., Huebner, A., Fischer, D., Schröder, R., Vorgerd, M., Kress, W., Born, C., Schoser, B. G., Krause, K. H., Klutzny, U., Bulst, S., Frey, J. R., Lochmüller, H.
Published in Brain (London, England : 1878) (01.06.2007)

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Novel TPM3 mutation in a family with cap myopathy and review of the literature

by Schreckenbach, T, Schröder, J.M, Voit, T, Abicht, A, Neuen-Jacob, E, Roos, A, Bulst, S, Kuhl, C, Schulz, J.B, Weis, J, Claeys, K.G
Published in Neuromuscular disorders : NMD (01.02.2014)

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G.P.123 Identification of molecular effects of FHL1 mutations on protein assembly in reducing body myopathy

by 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)

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G.P.3.13 Supplementation studies in primary human muscle cells with mtDNA depletion caused by mutations in the DGUOK and POLG1 genes

by Bulst, S, Abicht, A, Thirion, C, Lochmüller, H, Horvath, R
Published in Neuromuscular disorders : NMD (01.10.2008)

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Multi-Gene Panel Analysis in the Primary Diagnosis of Limb-Girdle Muscular Dystrophy

by Mayer, V., Bulst, S., Nissen, A., Kleinle, S., Becker, K., Walter, M. C., Benet-Pagès, A., Abicht, A.
Published in Neuropediatrics (20.04.2016)

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In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

by Bulst, Stefanie, Abicht, Angela, Holinski-Feder, Elke, Müller-Ziermann, Solvig, Koehler, Udo, Thirion, Christian, Walter, Maggie C., Stewart, Joanna D., Chinnery, Patrick F., Lochmüller, Hanns, Horvath, Rita
Published in Human molecular genetics (01.05.2009)

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Congenital Myasthenic Syndromes: Efficiency and Pitfalls of Phenotype-Based Gene Panel Testing

by Feder, L., Nissen, A., Bulst, S., Dusl, M., Senderek, J., Walter, M. C., Schara, U., Della, Marina A., Kölbel, Heike, Lochmüller, H., Benet-Pagès, A., Abicht, A.
Published in Neuropediatrics (20.04.2016)

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Evaluation of the therapeutic potential of carbonic anhydrase inhibitors in two animal models of dystrophin deficient muscular dystrophy

by Giacomotto, Jean, Pertl, Cordula, Borrel, Caroline, Walter, Maggie C., Bulst, Stefanie, Johnsen, Bob, Baillie, David L., Lochmüller, Hanns, Thirion, Christian, Ségalat, Laurent
Published in Human molecular genetics (01.11.2009)

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Divergent Molecular Effects of Desmin Mutations on Protein Assembly in Myofibrillar Myopathy

by Levin, Johannes, Bulst, Stefanie, Thirion, Christian, Schmidt, Felix, Bötzel, Kai, Krause, Sabine, Pertl, Cordula, Kretzschmar, Hans, Walter, Maggie C, Giese, Armin, Lochmüller, Hanns
Published in Journal of neuropathology and experimental neurology (01.04.2010)

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Supplementation studies with dAMP/dGMP in primary cultures of human myoblasts and myotubes of patients with mitochondrial DNA depletion caused by mutations in the DGUOK and POLG1 genes

by Bulst, S, Abicht, A, Lochmüller, H, Horvath, R
Published in Klinische Neurophysiologie (13.03.2009)

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Scapuloperoneal syndrome type kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Commentary

by WALTER, M. C, REILICH, P, KLUTZNY, U, BULST, S, FREY, J. R, LOCHMÜLLER, H, LAING, Nigel G, BLOCK, B, HUEBNER, A, FISCHER, D, SCHRÖDER, R, VORGERD, M, KRESS, W, BORN, C, SCHOSER, B. G, KRAUSE, K. H
Published in Brain (London, England : 1878) (2007)

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