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	1.	Aberrant development of neuromuscular junctions in glycosylation-defective Large(myd) mice. [electronic resource] by Herbst, Ruth Iskratsch, Thomas Unger, Ewald Bittner, Reginald E Producer: 20090728 In: Neuromuscular disorders : NMD vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	The susceptibility to experimental autoimmune encephalomyelitis is not related to dysferlin-deficiency. [electronic resource] by Hochmeister, Sonja Bittner, Reginald E Höger, Harald Lassmann, Hans Bradl, Monika Producer: 20090706 In: Autoimmunity vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene. [electronic resource] by Rossmanith, Walter Raffelsberger, Thomas Roka, Julia Kornek, Barbara Feucht, Martha Bittner, Reginald E Producer: 20040114 In: Annals of neurology vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Impaired muscle spindle function in murine models of muscular dystrophy. [electronic resource] by Gerwin, Laura Rossmanith, Sarah Haupt, Corinna Schultheiß, Jürgen Brinkmeier, Heinrich Bittner, Reginald E Kröger, Stephan Producer: 20210215 In: The Journal of physiology vol. 598 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency. [electronic resource] by Stepien, Karolina M Schmidt, Wolfgang M Bittner, Reginald E O'Toole, Orna McNamara, Brian Treacy, Eileen P Publication details: JIMD reports Mar 2019 In: JIMD reports vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Glomerular expression of dystroglycans is reduced in minimal change nephrosis but not in focal segmental glomerulosclerosis. [electronic resource] by Regele, Heinrich M Fillipovic, Edith Langer, Brigitte Poczewki, Helga Kraxberger, Ilse Bittner, Reginald E Kerjaschki, Dontscho Producer: 20000323 In: Journal of the American Society of Nephrology : JASN vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia. [electronic resource] by Schmidt, Wolfgang M Rutledge, S Lane Schüle, Rebecca Mayerhofer, Benjamin Züchner, Stephan Boltshauser, Eugen Bittner, Reginald E Producer: 20160322 In: American journal of human genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Acute decompensated heart failure associated with a heteroplasmic 3243A > G mitochondrial DNA point mutation. [electronic resource] by Auer, Johann Wallner, Manfred Windpessl, Martin Schmidt, Wolfgang M Bittner, Reginald E Baradaran-Dilmaghani, Ramin Berent, Robert Producer: 20180220 In: European heart journal vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency. [electronic resource] by Fricker, Ruth M Raffelsberger, Thomas Rauch-Shorny, Sigrid Finsterer, Josef Müller-Reible, Clemens Gilly, Hermann Bittner, Reginald E Producer: 20021224 In: Anesthesiology vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experience. [electronic resource] by Pichler, Karin Scholl-Buergi, Sabine Birnbacher, Robert Freilinger, Michael Straub, Simon Brunner, Jürgen Zschocke, Johannes Bittner, Reginald E Karall, Daniela Producer: 20151102 In: Muscle & nerve vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	MS screening strategies: investigating the glycomes of knockout and myodystrophic mice and leukodystrophic human brains. [electronic resource] by Sutton-Smith, Mark Morris, Howard R Grewal, Prabhjit K Hewitt, Jane E Bittner, Reginald E Goldin, Ehud Schiffmann, Raphael Dell, Anne Producer: 20031023 In: Biochemical Society symposium no. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders. [electronic resource] by Holzfeind, Paul J Grewal, Prabhjit K Reitsamer, Herbert A Kechvar, Jasmin Lassmann, Hans Hoeger, Harald Hewitt, Jane E Bittner, Reginald E Producer: 20030317 In: Human molecular genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency. [electronic resource] by Oezen, Iris Rossmanith, Walter Forss-Petter, Sonja Kemp, Stephan Voigtländer, Till Moser-Thier, Karin Wanders, Ronald J Bittner, Reginald E Berger, Johannes Producer: 20050721 In: Human molecular genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Targeted disruption of Hspa4 gene leads to cardiac hypertrophy and fibrosis. [electronic resource] 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 Producer: 20130226 In: Journal of molecular and cellular cardiology vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Characterization of stargardt disease using polarization-sensitive optical coherence tomography and fundus autofluorescence imaging. [electronic resource] 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 Producer: 20131119 In: Investigative ophthalmology & visual science vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Voltage-gated ion channel dysfunction precedes cardiomyopathy development in the dystrophic heart. [electronic resource] 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 Producer: 20110930 In: PloS one vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Enhanced currents through L-type calcium channels in cardiomyocytes disturb the electrophysiology of the dystrophic heart. [electronic resource] 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 Producer: 20140501 In: American journal of physiology. Heart and circulatory physiology vol. 306 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. [electronic resource] 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 Producer: 20170705 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. [electronic resource] 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 Producer: 20150120 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Evidence of mild founder [electronic resource] 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 Producer: 20190906 In: Neurology vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 29 results.