Search Results - "WALTER, C. M"

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy by HICKS, Debbie, SARKOZY, Anna, BAILEY, Geraldine, MILLER, James, RADUNOVIC, Aleksander, HUGHES, Paul J, ROBERT, Richard, KRAUSE, Sabine, WALTER, Maggie C, LAVAL, Steven H, STRAUB, Volker, LOCHMÜLLER, Hanns, MUELAS, Nuria, BUSHBY, Kate, KÖEHLER, Katrin, HUEBNER, Angela, HUDSON, Gavin, CHINNERY, Patrick F, BARRESI, Rita, EAGLE, Michelle, POLVIKOSKI, Tuomo

“…The limb-girdle muscular dystrophies are a group of disorders with wide genetic and clinical heterogeneity. Recently, mutations in the ANO5 gene, which encodes…”
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High-dose immunoglobulin therapy in sporadic inclusion body myositis : a double-blind, placebo-controlled study by WALTER, M. C, LOCHMÜLLER, H, TOEPFER, M, SCHLOTTER, B, REILICH, P, SCHRÖDER, M, MÜLLER-FELBER, W, PONGRATZ, D

“…Sporadic inclusion body myositis (s-IBM) is an acquired inflammatory muscle disease of unknown cause. In general, s-IBM presents with slowly progressive,…”
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Creatine monohydrate in muscular dystrophies : A double-blind, placebo-controlled clinical study by WALTER, M. C, LOCHMÜLLER, H, REILICH, P, KLOPSTOCK, T, HUBER, R, HARTARD, M, HENNIG, M, PONGRATZ, D, MÜLLER-FELBER, W

“…The authors assessed the safety and efficacy of creatine monohydrate (Cr) in various types of muscular dystrophies in a double-blind, crossover trial…”
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Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue by Hicks, D., Lampe, A. K., Laval, S. H., Allamand, V., Jimenez-Mallebrera, C., Walter, M. C., Muntoni, F., Quijano-Roy, S., Richard, P., Straub, V., Lochmüller, H., Bushby, K. M. D.

“…Mutations in COL6A1, COL6A2 and COL6A3, the genes which encode the extra-cellular matrix component collagen VI, lead to Bethlem myopathy and Ullrich congenital…”
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Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy by 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.

“…Frameshift mutations in the DMD gene, encoding dystrophin, cause Duchenne muscular dystrophy (DMD), leading to terminal muscle and heart failure in patients…”
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GNE protein expression and subcellular distribution are unaltered in HIBM by KRAUSE, S, ALEO, A, HINDERLICH, S, MERLINI, L, TOURNEV, I, WALTER, M. C, ARGOV, Z, MITRANI-ROSENBAUM, S, LOCHMÜLLER, H

“…Mutations in GNE encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) cause hereditary inclusion body myopathy (HIBM). To define the…”
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Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDS by FISCHER, Dirk, WALTER, Maggie C, URBACH, Horst, SCHRÖDER, Rolf, KESPER, Kristina, PETERSEN, Jens A, AURINO, Stefania, NIGRO, Vincenzo, KUBISCH, Christian, MEINDL, Thomas, LOCHMÜLLER, Hanns, WILHELM, Kai

“…Mutations in the fukutin-related protein (FKRP) have recently been demonstrated to cause limb girdle muscular dystrophy type 2I (LGMD2I), one of the most…”
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Clinical consequences of bone bruise around the knee by Vincken, Patrice W J, Ter Braak, Bert P M, van Erkel, Arian R, Coerkamp, Emile G, Mallens, Walter M C, Bloem, Johan L

“…The aim of this study is to evaluate the relation between bone bruise and (peri-)articular derangement and to assess the impact of bone bruise on presentation…”
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Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes by MERLINI, L, GOODING, R, LOCHMÜLLER, H, MÜLLER-FELBER, W, WALTER, M. C, ANGELICHEVA, D, TALIM, B, HALLMAYER, J, KALAYDJIEVA, L

“…To describe three Gypsy families with Marinesco-Sjögren syndrome (MSS), demyelinating neuropathy, and recurrent episodes of myoglobinuria in five of the six…”
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Effectiveness of MR imaging in selection of patients for arthroscopy of the knee by Vincken, Patrice W J, ter Braak, Bert P M, van Erkell, Arian R, de Rooy, Theo P W, Mallens, Walter M C, Post, Wendy, Bloem, Johan L

“…To determine the effectiveness of magnetic resonance (MR) imaging in the appropriate identification of those patients with a high clinical suspicion of…”
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Pregnancy outcome in Charcot–Marie–Tooth disease: results of the CMT‐NET cohort study in Germany by Rudnik‐Schöneborn, S., Thiele, S., Walter, M. C., Reinecke, L., Sereda, M., Schöneborn, R., Elbracht, M.

“…Background and purpose Systematic research on the effect of Charcot–Marie–Tooth (CMT) disease on the outcome of pregnancy and conversely the effect of…”
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MR imaging: effectiveness and costs at triage of patients with nonacute knee symptoms by Vincken, Patrice W J, ter Braak, Albert P M, van Erkel, Arian R, Coerkamp, Emile G, de Rooy, Theo P W, de Lange, Sam, Mallens, Walter M C, Coene, L Napoleon J E M, Bloem, Rolf M, van Luijt, Peter A, van den Hout, Wilbert B, van Houwelingen, Hans C, Bloem, Johan L

“…To prospectively evaluate the cost and effectiveness of magnetic resonance (MR) imaging performed to exclude the need for arthroscopy in patients with nonacute…”
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FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients by Walter, M C, Petersen, J A, Stucka, R, Fischer, D, Schröder, R, Vorgerd, M, Schroers, A, Schreiber, H, Hanemann, C O, Knirsch, U, Rosenbohm, A, Huebner, A, Barisic, N, Horvath, R, Komoly, S, Reilich, P, Müller-Felber, W, Pongratz, D, Müller, J S, Auerswald, E A, Lochmüller, H

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Pre-prandial vs. post-prandial capillary glucose measurements as targets for repaglinide dose titration in people with diet-treated or metformin-treated Type 2 diabetes: a randomized controlled clinical trial by Gerstein, H. C., Garon, J., Joyce, C., Rolfe, A., Walter, C. M.

“…Objective  Repaglinide is an oral anti‐diabetic agent that has a short duration of action, and is suitable for preventing post‐prandial rises in glucose…”
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Risk genes in myopathies and mitochondrial diseases by Stendel, C, Walter, M C, Klopstock, T

“…Myopathies and mitochondrial diseases pose a major challenge in diagnosis due to the multitude of different entities and - in the case of mitochondriopathies -…”
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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy by Horvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Anders, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Gittan, Jayakar, Parul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Çoku, Jorida, Günther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmüller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar, DiMauro, Salvatore

“…Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling…”
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Classification of ultraviolet irradiated mouse skin histological stages by bimodal spectroscopy: multiple excitation autofluorescence and diffuse reflectance by Amouroux, Marine, Di´az-Ayil, Gilberto, Blondel, Walter C. P. M, Bourg-Heckly, Genevie ve, Leroux, Agne s, Guillemin, Franc¸ois

“…Histopathological analysis and optical spectroscopy were used to discriminate several histological stages of UV-irradiated mouse skin. At different times…”
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The Clinical Outcome Study for dysferlinopathy: An international multicenter study by Harris, Elizabeth, Bladen, Catherine L, Mayhew, Anna, James, Meredith, Bettinson, Karen, Moore, Ursula, Smith, Fiona E, Rufibach, Laura, Cnaan, Avital, Bharucha-Goebel, Diana X, Blamire, Andrew M, Bravver, Elena, Carlier, Pierre G, Day, John W, Díaz-Manera, Jordi, Eagle, Michelle, Grieben, Ulrike, Harms, Matthew, Jones, Kristi J, Lochmüller, Hanns, Mendell, Jerry R, Mori-Yoshimura, Madoka, Paradas, Carmen, Pegoraro, Elena, Pestronk, Alan, Salort-Campana, Emmanuelle, Schreiber-Katz, Olivia, Semplicini, Claudio, Spuler, Simone, Stojkovic, Tanya, Straub, Volker, Takeda, Shin'ich, Rocha, Carolina Tesi, Walter, M C, Bushby, Kate

“…To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy. The Clinical Outcome Study…”
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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 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.

“…In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large,…”
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A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B by Todorova, A, Halliger-Keller, B, Walter, M C, Dabauvalle, M-C, Lochmüller, H, Müller, C R

“…[...]cDNA from leukocytes showed two transcription products, one normal and one larger, demonstrating that some abnormal splicing had occurred. Notably,…”
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