Search Results - "BITTNER, Reginald E"

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia by Schmidt, Wolfgang M., Rutledge, S. Lane, Schüle, Rebecca, Mayerhofer, Benjamin, Züchner, Stephan, Boltshauser, Eugen, Bittner, Reginald E.

“…Hereditary ataxias comprise a group of genetically heterogeneous disorders characterized by clinically variable cerebellar dysfunction and accompanied by…”
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Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss by Baumann, Matthias, Giunta, Cecilia, Krabichler, Birgit, Rüschendorf, Franz, Zoppi, Nicoletta, Colombi, Marina, Bittner, Reginald E., Quijano-Roy, Susana, Muntoni, Francesco, Cirak, Sebahattin, Schreiber, Gudrun, Zou, Yaqun, Hu, Ying, Romero, Norma Beatriz, Carlier, Robert Yves, Amberger, Albert, Deutschmann, Andrea, Straub, Volker, Rohrbach, Marianne, Steinmann, Beat, Rostásy, Kevin, Karall, Daniela, Bönnemann, Carsten G., Zschocke, Johannes, Fauth, Christine

“…We report on an autosomal-recessive variant of Ehlers-Danlos syndrome (EDS) characterized by severe muscle hypotonia at birth, progressive scoliosis, joint…”
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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome) by Rahikkala, Elisa, Myllykoski, Matti, Hinttala, Reetta, Vieira, Päivi, Nayebzadeh, Naemeh, Weiss, Simone, Plomp, Astrid S., Bittner, Reginald E., Kurki, Mitja I., Kuismin, Outi, Lewis, Andrea M., Väisänen, Marja-Leena, Kokkonen, Hannaleena, Westermann, Jonne, Bernert, Günther, Tuominen, Hannu, Palotie, Aarno, Aaltonen, Lauri, Yang, Yaping, Potocki, Lorraine, Moilanen, Jukka, van Koningsbruggen, Silvana, Wang, Xia, Schmidt, Wolfgang M., Koivunen, Peppi, Uusimaa, Johanna

“…Purpose A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family…”
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Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency by Dorninger, Fabian, Kiss, Attila, Rothauer, Peter, Stiglbauer-Tscholakoff, Alexander, Kummer, Stefan, Fallatah, Wedad, Perera-Gonzalez, Mireia, Hamza, Ouafa, König, Theresa, Bober, Michael B, Cavallé-Garrido, Tiscar, Braverman, Nancy E, Forss-Petter, Sonja, Pifl, Christian, Bauer, Jan, Bittner, Reginald E, Helbich, Thomas H, Podesser, Bruno K, Todt, Hannes, Berger, Johannes

“…Inherited deficiency in ether lipids, a subgroup of glycerophospholipids with unique biochemical and biophysical properties, evokes severe symptoms in humans…”
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Characterization of stargardt disease using polarization-sensitive optical coherence tomography and fundus autofluorescence imaging by Ritter, Markus, Zotter, Stefan, Schmidt, Wolfgang M, Bittner, Reginald E, Deak, Gabor G, Pircher, Michael, Sacu, Stefan, Hitzenberger, Christoph K, Schmidt-Erfurth, Ursula M

“…To identify disease-specific changes in Stargardt disease (STGD) based on imaging with polarization-sensitive spectral-domain optical coherence tomography…”
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DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies by Schmidt, Wolfgang M, Uddin, Mohammed H, Dysek, Sandra, Moser-Thier, Karin, Pirker, Christine, Höger, Harald, Ambros, Inge M, Ambros, Peter F, Berger, Walter, Bittner, Reginald E

“…Albeit genetically highly heterogeneous, muscular dystrophies (MDs) share a convergent pathology leading to muscle wasting accompanied by proliferation of…”
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Voltage-gated ion channel dysfunction precedes cardiomyopathy development in the dystrophic heart by Koenig, Xaver, Dysek, Sandra, Kimbacher, Stefanie, Mike, Agnes K, Cervenka, Rene, Lukacs, Peter, Nagl, Katrin, Dang, Xuan B, Todt, Hannes, Bittner, Reginald E, Hilber, Karlheinz

“…Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is associated with severe cardiac complications including cardiomyopathy and…”
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Targeted disruption of Hspa4 gene leads to cardiac hypertrophy and fibrosis by Mohamed, Belal A, Barakat, Amal Z, Zimmermann, Wolfram-Hubertus, Bittner, Reginald E, Mühlfeld, Christian, Hünlich, Mark, Engel, Wolfgang, Maier, Lars S, Adham, Ibrahim M

“…Abstract Failure of molecular chaperones to direct the correct folding of newly synthesized proteins leads to the accumulation of misfolded proteins in cells…”
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Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration by Schmidt, Wolfgang M, Kraus, Cornelia, Höger, Harald, Hochmeister, Sonja, Oberndorfer, Felicitas, Branka, Manuela, Bingemann, Sonja, Lassmann, Hans, Müller, Markus, Macedo-Souza, Lúcia Inês, Vainzof, Mariz, Zatz, Mayana, Reis, André, Bittner, Reginald E

“…Here, we show that the murine neurodegenerative disease mdf (autosomal recessive mouse mutant ‘muscle deficient’) is caused by a loss‐of‐function mutation in…”
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Impaired muscle spindle function in murine models of muscular dystrophy by Gerwin, Laura, Rossmanith, Sarah, Haupt, Corinna, Schultheiß, Jürgen, Brinkmeier, Heinrich, Bittner, Reginald E., Kröger, Stephan

“…Key points Muscular dystrophy patients suffer from progressive degeneration of skeletal muscle fibres, sudden spontaneous falls, balance problems, as well as…”
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The bradycardic agent ivabradine decreases conduction velocity in the AV node and in the ventricles in-vivo by Amstetter, Daniel, Badt, Florian, Rubi, Lena, Bittner, Reginald E., Ebner, Janine, Uhrin, Pavel, Hilber, Karlheinz, Koenig, Xaver, Todt, Hannes

“…Ivabradine blocks hyperpolarisation-activated cyclic nucleotide-gated (HCN) channels, thereby lowering the heart rate, an action that is used clinically for…”
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A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay by Milic, Astrid, Daniele, Nathalie, Lochmüller, Hanns, Mora, Marina, Comi, Giacomo P, Moggio, Maurizio, Noulet, Fanny, Walter, Maggie C, Morandi, Lucia, Poupiot, Jérôme, Roudaut, Carinne, Bittner, Reginald E, Bartoli, Marc, Richard, Isabelle

“…Abstract Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive muscular disorder caused by mutations in the gene coding for calpain 3, a…”
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Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation by Baumann, Matthias, Steichen-Gersdorf, Elisabeth, Krabichler, Birgit, Petersen, Britt-Sabina, Weber, Ulrike, Schmidt, Wolfgang M, Zschocke, Johannes, Müller, Thomas, Bittner, Reginald E, Janecke, Andreas R

“…The exceptionally large SYNE1 (spectrin repeat-containing nuclear envelope protein 1) gene encodes different nesprin-1 isoforms, which are differentially…”
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Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6 by Rost, Simone, Bach, Elisa, Neuner, Cordula, Nanda, Indrajit, Dysek, Sandra, Bittner, Reginald E, Keller, Alexander, Bartsch, Oliver, Mlynski, Robert, Haaf, Thomas, Müller, Clemens R, Kunstmann, Erdmute

“…Hereditary hearing loss is the most common human sensorineural disorder. Genetic causes are highly heterogeneous, with mutations detected in >40 genes…”
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Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria by Schatz, Ulrich A, Weiss, Simone, Wenninger, Stephan, Schoser, Benedikt, Muss, Wolfgang H, Bittner, Reginald E, Schmidt, Wolfgang M, Schossig, Anna S, Rudnik-Schöneborn, Sabine, Baumann, Matthias

“…OBJECTIVETo expand the clinical and genetic spectrum of nemaline myopathy 10 by a series of Austrian and German patients with a milder disease course and…”
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Enhanced currents through L-type calcium channels in cardiomyocytes disturb the electrophysiology of the dystrophic heart by Koenig, Xaver, Rubi, Lena, Obermair, Gerald J, Cervenka, Rene, Dang, Xuan B, Lukacs, Peter, Kummer, Stefan, Bittner, Reginald E, Kubista, Helmut, Todt, Hannes, Hilber, Karlheinz

“…Duchenne muscular dystrophy (DMD), induced by mutations in the gene encoding for the cytoskeletal protein dystrophin, is an inherited disease characterized by…”
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A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis-The Austrian experience by Pichler, Karin, Scholl-Buergi, Sabine, Birnbacher, Robert, Freilinger, Michael, Straub, Simon, Brunner, Jürgen, Zschocke, Johannes, Bittner, Reginald E., Karall, Daniela

“…ABSTRACT Introduction: Lipin 1 gene (LPIN1) mutations lead to cellular energy deficiency and cause up to 50% of the rhabdomyolysis episodes seen in pediatric…”
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The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice by von der Hagen, Maja, Laval, Steven H., Cree, Lynsey M., Haldane, Faye, Pocock, Matthew, Wappler, Ilka, Peters, Heiko, Reitsamer, Herbert A., Hoger, Harald, Wiedner, Maria, Oberndorfer, Felicitas, Anderson, Louise V.B., Straub, Volker, Bittner, Reginald E., Bushby, Kate M.D.

“…The selective pattern of muscle involvement is a key feature of muscular dystrophies. Dysferlinopathy is a good model for studying this process since it shows…”
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Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency by FRICKER, Ruth M, RAFFELSBERGER, Thomas, RAUCH-SHORNY, Sigrid, FINSTERER, Josef, MÜLLER-REIBLE, Clemens, GILLY, Hermann, BITTNER, Reginald E

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Proteins implicated in muscular dystrophy and cancer are functional constituents of the centrosome by Winter, Lilli, Kustermann, Monika, Ernhofer, Büsra, Höger, Harald, Bittner, Reginald E, Schmidt, Wolfgang M

“…Aberrant expression of dystrophin, utrophin, dysferlin, or calpain-3 was originally identified in muscular dystrophies (MDs). Increasing evidence now indicates…”
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