Search Results - "Schoser, B"

Principles of translational gene therapy for neuromuscular diseases by Schoser, B

“…In recent years the theoretical hope has become reality and the first hereditary neuromuscular diseases have become causally treatable. Neuromuscular diseases…”
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Self-diagnosis of a triple trouble by Schoser, B.

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“Orbiting around” the orbital myositis: clinical features, differential diagnosis and therapy by Montagnese, F., Wenninger, S., Schoser, B.

“…Orbital myositis (OM) is a rare disease whose clinical heterogeneity and different treatment options represent a diagnostic and therapeutic challenge. We aim…”
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Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis by Gutschmidt, K., Wenninger, S., Montagnese, F., Schoser, B.

“…Background Cognitive impairments in patients with myotonic dystrophy type 1 (DM1) have often been described, however, there are only few studies…”
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European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience by Ploeg, A. T., Kruijshaar, M. E., Toscano, A., Laforêt, P., Angelini, C., Lachmann, R. H., Pascual Pascual, S. I., Roberts, M., Rösler, K., Stulnig, T., Doorn, P. A., Van den Bergh, P. Y. K., Vissing, J., Schoser, B., Bembi, Bruno, Broomfield, Alexander, Boentert, Matthias, Desnuelle, Claude, Findling, Oliver, Hahn, Andreas, Díaz‐Manera, Jordi, Hundsberger, Thomas, Kornblum, Cornelia, Labarthé, Franҫois, Laforet, Pascal, Mengel, Karl‐Eugen, Mongini, Tiziana, Muller‐Felber, Wolfgang, Parenti, Giancarlo, Pijnappel, W. Pim, Preisler, Nicolai, Sacconi, Sabrina, Talim, Beril, Tardieu, Marine, Beek, Nadine A.M.E, Wenninger, Stephan

“…Background and purpose Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy (ERT) has been available since 2006. Uniform…”
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Sleep-related symptoms and sleep-disordered breathing in adult Pompe disease by Boentert, M., Karabul, N., Wenninger, S., Stubbe-Dräger, B., Mengel, E., Schoser, B., Young, P.

“…Background and purpose Respiratory muscle weakness is the major cause of early death in patients with adult Pompe disease. It first manifests as nocturnal…”
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Innovative therapeutic approaches for hereditary neuromuscular diseases by Kirschner, J, Schoser, B

“…Advances in the understanding of the genetic mechanisms and pathophysiology of neuromuscular diseases have recently led to the development of new, innovative…”
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EP 40. Gynecomastia – A sign of a neuromuscular disease? by Widmann, E, Scheßl, J, Schoser, B

“…Objective The aim of a neurological examination is to narrow down by signs and symptoms which components of the neurological system are affected. In…”
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Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale by Kooten, Harmke A., Horton, Mike C., Wenninger, Stephan, Babačić, Haris, Schoser, Benedikt, Lefeuvre, Claire, Taouagh, Najib, Laforêt, Pascal, Segovia, Sonia, Díaz‐Manera, Jordi, Claeys, Kristl G., Mongini, Tiziana, Musumeci, Olimpia, Toscano, Antonio, Hundsberger, Thomas, Brusse, Esther, Doorn, Pieter A., Ploeg, Ans T., Beek, Nadine A. M. E., Kooten, H. A, Brusse, E., Doorn, P. A, Ploeg, A. T., Beek, N. A. M. E., Wenninger, S., Babačić, H., Schoser, B., Montagnese, F., Gracia Angarita, N., Lefeuvre, C., Taouagh, N., Laforêt, P., Béhin, A., Tard, C., Campana‐Salort, E., Sacconi, S., Solé, G., Spinazzi, M., Bouhour, F., Bouibede, F., Hamroun, D., Hogrel, J. Y., Segovia, S., Díaz‐Manera, J., Claeys, K.G., Mongini, T., Musumeci, O., Toscano, A., Hundsberger, T., Horton, M. C.

“…Background and purpose The Rasch‐Built Pompe‐Specific Activity (R‐PAct) scale is a patient‐reported outcome measure specifically designed to quantify the…”
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A zebrafish model for FHL1-opathy reveals loss-of-function effects of human FHL1 mutations by Keßler, M., Kieltsch, A., Kayvanpour, E., Katus, H.A., Schoser, B., Schessl, J., Just, S., Rottbauer, W.

“…•A zebrafish model for FHL1-opathy was generated.•Human FHL1 mutations FHL1-H123Y, FHL1-C132F and FHL1-C224W were expressed in zebrafish.•The zebrafish model…”
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An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease by Kulessa, M., Weyer‐Menkhoff, I., Viergutz, L., Kornblum, C., Claeys, K. G., Schneider, I., Plöckinger, U., Young, P., Boentert, M., Vielhaber, S., Mawrin, C., Bergmann, M., Weis, J., Ziagaki, A., Stenzel, W., Deschauer, M., Nolte, D., Hahn, A., Schoser, B., Schänzer, A.

“…Aims Pompe disease is caused by pathogenic mutations in the alpha 1,4‐glucosidase (GAA) gene and in patients with late onset Pome disease (LOPD),…”
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Physiology, pathophysiology and diagnostic significance of autophagic changes in skeletal muscle tissue--towards the enigma of rimmed and round vacuoles by Schoser, B

“…Autophagic vacuoles are the morphological hallmark in a wide variety of human skeletal muscle disorders. The present review summarizes recent novel insights in…”
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Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey by Jiménez-Moreno, A.C., Raaphorst, J., Babačić, H., Wood, L., van Engelen, B., Lochmüller, H., Schoser, B., Wenninger, S.

“…•This is the first high scale survey for falls and fractures for Myotonic Dystrophy 1.•DM1 adults showed 2.3 more risk of falling than a healthy adult over 65…”
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Glycogen storage diseases of all types by Hoffmann, Georg F., Smit, P. A., Schoser, B.

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Muscle ultrasound in classic infantile and adult Pompe disease: A useful screening tool in adults but not in infants by Vill, K, Schessl, J, Teusch, V, Schroeder, S, Blaschek, A, Schoser, B, Müller-Felber, W

“…Highlights • In adults, ultrasound was visually abnormal in every clinically affected muscle. • There is no pathognomic anatomical pattern in Pompe disease. •…”
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1st FSHD European Trial Network workshop:Working towards trial readiness across Europe by Voermans, N.C., Vriens-Munoz Bravo, M., Padberg, G.W., Laforêt, P., van Alfen, N., Attarian, S., Badrising, U.A., Bugiardini, E., González, P. Camano, Carlier, R.Y., Desguerre, I., Diaz-Manera, J., Dumonceaux, J., van Engelen, B.G., Evangelista, T., Khosla, S., de Munain, A. López, van der Maarel, S.M., Mejat, A., Monforte, M., Montagnese, F., Mul, K., Oflazer, P., Porter, B., Quijano-Roy, S., Ricci, E., Sacconi, S., Sansone, V.A., Schoser, B., Statland, J., Stumpe, E., Tasca, G., Tawil, R., Turner, C., Vissing, J.

“…•The FSHD European Trial Network (FSHD ETN) will have an open membership.•There will be four working groups (WG) on clinical and genetic diagnosis (WG 1),…”
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The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): Long-term outcomes by Sansone, V.A, Brigonzi, E, Schoser, B, Villani, S, Gaeta, M, De Ambroggi, G, Bandera, F, De Ambroggi, L, Meola, G

“…Abstract Background Frequency and severity of cardiac involvement in DM2 are still controversial. The aims of our study were to determine the frequency and…”
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Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood by van Cruchten, Remco T. P., van As, Daniël, Glennon, Jeffrey C., van Engelen, Baziel G. M., ‘t Hoen, Peter A. C., Okkersen, K, Jimenez-Moreno, C, Wenninger, S, Daidj, F, Cumming, S, Littleford, R, Monckton, D G, Lochmüller, H, Catt, M, Faber, C G, Hapca, A, Donnan, P T, Gorman, G, Bassez, G, Schoser, B, Knoop, H, Treweek, S, Wansink, Derick G., Impens, Francis, Gabriels, Ralf, Claeys, Tine, Ravel-Chapuis, Aymeric, Jasmin, Bernard J., Mahon, Niamh, Nieuwenhuis, Sylvia, Martens, Lennart, Novak, Petr, Furling, Denis, Baak, Arie, Gourdon, Genevieve, MacKenzie, Alex, Martinat, Cecile, Neault, Nafisa, Roos, Andreas, Duchesne, Elise, Salz, Renee, Thompson, Rachel, Baghdoyan, Sandrine, Varghese, Anu Mary, Blom, Paul, Spendiff, Sally, Manta, Alexander

“…Abstract Background Myotonic dystrophy type 1 (DM1) is an incurable multisystem disease caused by a CTG-repeat expansion in the DM1 protein kinase ( DMPK )…”
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Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited by Schoser, B. G. H., Müller-Höcker, J., Horvath, R., Gempel, K., Pongratz, D., Lochmüller, H., Müller-Felber, W.

“…The need for clinical awareness and diagnostic precision of glycogen storage disease type 2 (GSD2) has increased, as enzyme replacement therapy has become…”
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Coenzyme Q10 deficiency and isolated myopathy by HORVATH, R, SCHNEIDERAT, P, LOCHMÜLLER, H, SCHOSER, B. G. H, GEMPEL, K, NEUEN-JACOB, E, PLÖGER, H, MÜLLER-HÖCKER, J, PONGRATZ, D. E, NAINI, A, DIMAURO, S

“…Three unrelated, sporadic patients with muscle coenzyme Q10 (CoQ10) deficiency presented at 32, 29, and 6 years of age with proximal muscle weakness and…”
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