Search Results - "Bittner, R E"

Spectroscopic Investigation of the Effect of Microstructure and Energetic Offset on the Nature of Interfacial Charge Transfer States in Polymer: Fullerene Blends by Dimitrov, S. D, Azzouzi, M, Wu, J, Yao, J, Dong, Y, Tuladhar, P. Shakya, Schroeder, B. C, Bittner, E. R, McCulloch, I, Nelson, J, Durrant, J. R

“…Despite performance improvements of organic photovoltaics, the mechanism of photoinduced electron–hole separation at organic donor–acceptor interfaces remains…”
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A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy by Bader, Ingrid, Freilinger, M, Landauer, F, Waldmüller, S, Mueller-Felber, W, Rauscher, C, Sperl, W, Bittner, R. E, Schmidt, W. M, Mayr, J. A

“…Abstract Background Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7 -related skeletal myopathies are extremely rare, and the vast…”
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Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene by HAUBENBERGER, D, BITTNER, R. E, RAUCH-SHORNY, S, ZIMPRICH, F, MANNHALTER, C, WAGNER, L, MINEVA, I, VASS, K, AUFF, E, ZIMPRICH, A

“…Mutations in the valosin-containing protein (VCP) on chromosome 9p13-p12 were recently found to be associated with hereditary inclusion body myopathy, Paget…”
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Recruitment of bone-marrow-derived cells by skeletal and cardiac muscle in adult dystrophic mdx mice by Bittner, R E, Schöfer, C, Weipoltshammer, K, Ivanova, S, Streubel, B, Hauser, E, Freilinger, M, Höger, H, Elbe-Bürger, A, Wachtler, F

“…It is commonly accepted, that regenerative capacity of striated muscle is confined to skeletal muscle by activation of satellite cells that normally reside…”
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Isolated cytochrome c oxidase deficiency as a cause of MELAS by Rossmanith, W, Freilinger, M, Roka, J, Raffelsberger, T, Moser-Thier, K, Prayer, D, Bernert, G, Bittner, R E

“…MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is one of the more common mitochondrial encephalomyopathies. About 80%…”
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Pompe disease in Austria: clinical, genetic and epidemiological aspects by Löscher, W. N., Huemer, M., Stulnig, T. M., Simschitz, P., Iglseder, S., Eggers, C., Moser, H., Möslinger, D., Freilinger, M., Lagler, F., Grinzinger, S., Reichhardt, M., Bittner, R. E., Schmidt, W. M., Lex, U., Brunner-Krainz, M., Quasthoff, S., Wanschitz, J. V.

“…In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Austria. Paediatric and neuromuscular centres were contacted…”
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Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome by Auer-Grumbach, M, Fischer, C, Papić, L, John, E, Plecko, B, Bittner, R E, Bernert, G, Pieber, T R, Miltenberger, G, Schwarz, R, Windpassinger, C, Grill, F, Timmerman, V, Speicher, M R, Janecke, A R

“…Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) is often characterised by an infantile disease onset and a severe phenotype. Mutations in the…”
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Direct Visualization of the Dystrophin Network on Skeletal Muscle Fiber Membrane by Straub, Volker, Bittner, Reginald E., Léger, Jean J., Voit, Thomas

“…Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene locus, is expressed on the muscle fiber surface. One key to further understanding…”
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Left ventricular non-compaction in a patient with becker's muscular dystrophy by Stöllberger, C., Finsterer, J., Blazek, G., Bittner, R. E.

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Lactate stress test in the diagnosis of mitochondrial myopathy by Finsterer, J, Shorny, S, Capek, J, Cerny-Zacharias, C, Pelzl, B, Messner, R, Bittner, R.E, Mamoli, B

“…The aim of the study was to determine the sensitivity and specificity of the lactate stress test in the detection of mitochondrial myopathies. Thirty one…”
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Cardiac involvement in Becker's muscular dystrophy, necessitating heart transplantation, 6 years before apparent skeletal muscle involvement by Finsterer, J, Bittner, R.E, Grimm, M

“…In Becker's muscular dystrophy cardiac abnormalities usually occur after onset of neuromuscular symptoms. We describe a Becker muscular dystrophy patient in…”
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Effects of oral creatine supplementation in a patient with MELAS phenotype and associated nephropathy by Barisic, N, Bernert, G, Ipsiroglu, O, Stromberger, C, Müller, T, Gruber, S, Prayer, D, Moser, E, Bittner, R E, Stöckler-Ipsiroglu, S

“…An 18-year-old male patient with MELAS phenotype and 2 previous episodes of cerebral stroke, recurrent seizures and nephropathy, was treated with creatine…”
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Dystrophin deficient mdx muscle is not prone to MH susceptibility: an in vitro study by Mader, N, Gilly, H, Bittner, R E

“…The association between malignant hyperthermia (MH) and neuromuscular disorders is controversial. An association between MH and Duchenne muscular dystrophy, a…”
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Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse by Grewal, Prabhjit K, Hewitt, Jane E, Holzfeind, Paul J, Bittner, Reginald E

“…Spontaneous and engineered mouse mutants have facilitated our understanding of the pathogenesis of muscular dystrophy and they provide models for the…”
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Cerebrospinal fluid filtration and immunoglobulins in multifocal motor neuropathy by Finsterer, J, Schwerer, B, Bittner, R E, Mamoli, B

“…Cerebrospinal fluid (CSF) filtration has been shown to be of benefit in chronic inflammatory, demyelinating polyneuropathy, but has not been applied to…”
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The Cis−Trans Isomerization of 1,2,5,6-Tetrasilacycloocta-3,7-dienes:  Analysis by Mechanistic Probes and Density Functional Theory by Zhang, Lei, Borysenko, Christopher W, Albright, Thomas A, Bittner, Eric R, Lee, T. Randall

“…A series of alkyl- and aryl-substituted derivatives of cis,cis-1,2,5,6-tetrasilacycloocta-3,7-diene were prepared. Isomerization of these compounds to the…”
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Histomorphometric studies in patients with facial palsy treated by functional muscle transplantation: new aspects for the surgical concept by Frey, M, Happak, W, Girsch, W, Bittner, R E, Gruber, H

“…Whenever it was possible, muscle and nerve biopsies were performed in patients with irreversible, unilateral facial palsy treated by cross-face nerve grafting…”
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MAP1B Is Required for Axon Guidance and Is Involved in the Development of the Central and Peripheral Nervous System by Meixner, Arabella, Haverkamp, Silke, Wässle, Heinz, Führer, Susanne, Thalhammer, Johann, Kropf, Nina, Bittner, Reginald E., Lassmann, Hans, Wiche, Gerhard, Propst, Friedrich

“…Microtubule-associated proteins such as MAP1B have long been suspected to play an important role in neuronal differentiation, but proof has been lacking…”
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Angina for 14 years by Stöllberger, C, Finsterer, J, Bittner, R E

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Glomerular expression of dystroglycans is reduced in minimal change nephrosis but not in focal segmental glomerulosclerosis by REGELE, H. M, FILLIPOVIC, E, LANGER, B, POCZEWKI, H, KRAXBERGER, I, BITTNER, R. E, KERJASCHKI, D

“…Extensive flattening of podocyte foot processes and increased permeability of the glomerular capillary filter are the major pathologic features of minimal…”
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