Search Results - "Schoser, B. G."

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…”
Get full text

Matrix metalloproteinases in inflammatory myopathies: enhanced immunoreactivity near atrophic myofibers by Schoser, B. G. H., Blottner, D., Stuerenburg, H.-J.

“…Objectives– To further examine the role of proteolytic enzyme expression of matrix metalloproteinases (MMP) and T‐cell markers in inflammatory myopathies and…”
Get full text

Serum levels of matrix metalloproteinases-2 and -9 and their tissue inhibitors in inflammatory neuromuscular disorders by Hurnaus, S, Mueller-Felber, W, Pongratz, D, Schoser, B G H

“…We monitored serum levels of matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) before and during intravenously applied immunoglobulin (IVIG)…”
Get more information

Molecular biomarkers monitoring human skeletal muscle fibres and microvasculature following long‐term bed rest with and without countermeasures by Salanova, M., Schiffl, G., Püttmann, B., Schoser, B. G., Blottner, D.

“…The cellular mechanisms of human skeletal muscle adaptation to disuse are largely unknown. The aim of this study was to determine the morphological and…”
Get full text

Matrix metalloproteinases MMP-2, MMP-7 and MMP-9 in denervated human muscle by Schoser, Benedikt G. H, Blottner, D

“…PROTEOLYTIC enzyme expression was studied by matrix metalloproteinases (MMP) immunoreactivity (-IR) in muscle biopsies from patients with amyotrophic lateral…”
Get full text

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,…”
Get full text

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…”
Get full text

Sudden cardiac death in myotonic dystrophy type 2 by SCHOSER, B. G. H, RICKER, K, SCHNEIDER-GOLD, C, HENGSTENBERG, C, DÜRRE, J, BÜLTMANN, B, KRESS, W, DAY, J. W, RANUM, L. P. W

“…Medical records and follow-up data were reviewed in 297 genetically proven myotonic dystrophy type 2 (DM2) patients. Patients were selected by the criteria of…”
Get full text

Autoimmune hyperthyroidism in multiple sclerosis under treatment with glatiramer acetate - a case report by Heesen, C., Gbadamosi, J., Schoser, B.-G.-H., Pöhlau, D.

Get full text

Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene by Horváth, R, Lochmüller, H, Hoeltzenbein, M, Müller-Höcker, J, Schoser, B G, Pongratz, D, Jaksch, M

Get full text

Cerebral hyperperfusion injury after percutaneous transluminal angioplasty of extracranial arteries by SCHOSER, B. G. H, HEESEN, C, ECKERT, B, THIE, A

Get full text

A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy by Horváth, R, Lochmüller, H, Scharfe, C, Do, B H, Oefner, P J, Müller-Höcker, J, Schoser, B G, Pongratz, D, Auer, D P, Jaksch, M

Get full text

Outcome and effect of pregnancy in myotonic dystrophy type 2 by RUDNIK-SCHÖNEBORN, S, SCHNEIDER-GOLD, C, RAABE, U, KRESS, W, ZERRES, K, SCHOSER, B. G. H

“…The authors reviewed the obstetric histories of 42 women of 37 families with myotonic dystrophy type 2 (DM2). Nine women (21%) had the first symptoms during…”
Get full text

McLeod myopathy revisited: more neurogenic and less benign by Hewer, Ekkehard, Danek, Adrian, Schoser, Benedikt G., Miranda, Marcelo, Reichard, Ross, Castiglioni, Claudia, Oechsner, Matthias, Goebel, Hans H., Heppner, Frank L., Jung, Hans H.

“…The X-linked McLeod neuroacanthocytosis syndrome (MLS) has originally been denoted as ‘benign’ McLeod myopathy. We assessed the clinical findings and the…”
Get full text

CD95-mediated apoptosis and DNA fragmentation in MS by Heesen, C., Georghiu, S., Gbadamosi, J., Schoser, B. G. H.

“…Objective– To investigate possible associations of soluble CD95 (sCD95) serum levels and DNA defragmentation with different MS disease stages and activities…”
Get full text

Mutations in the acid α-glucosidase gene (M. Pompe) in a patient with an unusual phenotype by ANNESER, J. M. H, PONGRATZ, D. E, PODSKARBI, T, SHIN, Y. S, SCHOSER, B. G. H

“…Glycogenosis type II (Pompe disease) is a lysosomal storage disease caused by deficiency of acid alpha-glucosidase (acid maltase). The disease is autosomal…”
Get full text

A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation by VORGERD, M, RICKER, K, ZIEMSSEN, F, KRESS, W, GOEBEL, H. H, NIX, W. A, KUBISCH, C, SCHOSER, B. G. H, MORTIER, W

“…To determine the cause of sporadic rippling muscle disease (RMD) in a 24-year-old patient. RMD is a rare myopathy characterized by percussion-induced rapid…”
Get full text

The impact of raised intracranial pressure on cerebral venous hemodynamics : a prospective venous transcranial Doppler ultrasonography study by SCHOSER, B. G. H, RIEMENSCHNEIDER, N, HANSEN, H. C

“…The effect of increased intracranial pressure (ICP) on cerebral venous blood flow has been the subject of very few clinical and experimental studies. The…”
Get full text

Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein by 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

“…Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD, MIM 167320) is a recently identified autosomal dominant disorder due to…”
Get more information

Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease by Van den Bergh, P Y K, Gérard, J M, Elosegi, J A, Manto, M U, Kubisch, C, Schoser, B G H

“…Rippling muscle disease (RMD) is a rare muscle disorder characterised by muscle stiffness, exercise induced myalgia, and cramp-like sensations. It is…”
Get full text