Bittner, Reginald : rechercher sur Z-Library

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1

Axonal polyneuropathy in Ehlers–Danlos syndrome

Wolf Muellbacher, Josef Finsterer, Bruno Mamoli, Reginald E. Bittner, Franz Trautinger

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 262 KB

english, 1998

2

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi, Marina Colombi, Reginald E. Bittner, Susana Quijano-Roy, Francesco Muntoni, Sebahattin Cirak, Gudrun Schreiber,

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2012

3

Targeted disruption of Hspa4 gene leads to cardiac hypertrophy and fibrosis

Belal A. Mohamed, Amal Z. Barakat, Wolfram-Hubertus Zimmermann, Reginald E. Bittner, Christian Mühlfeld, Mark Hünlich, Wolfgang Engel, Lars S. Maier, Ibrahim M. Adham

Journal:

Journal of Molecular and Cellular Cardiology

Année:

2012

Langue:

english

Fichier:

PDF, 1.62 MB

english, 2012

4

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

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, Erdmut

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 2.82 MB

english, 2014

5

A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis-The Austrian experience

Pichler, Karin, Scholl-Buergi, Sabine, Birnbacher, Robert, Freilinger, Michael, Straub, Simon, Brunner, Jürgen, Zschocke, Johannes, Bittner, Reginald E., Karall, Daniela

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 57 KB

english, 2015

6

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

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., Väisä

Journal:

Genetics in Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 704 KB

english, 2019

7

The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene

Walter Rossmanith, Thomas Raffelsberger, Julia Roka, Barbara Kornek, Martha Feucht, Reginald E. Bittner

Journal:

Annals of Neurology

Année:

2003

Langue:

english

Fichier:

PDF, 182 KB

english, 2003

8

Ion channel impairments in dystrophic cardiomyocytes

Xaver König, Markus Mille, Stefanie Kimbacher, René Cervenka, Péter Lukács, Hannes Todt, Reginald E Bittner, Karlheinz Hilber

Journal:

BMC Pharmacology

Année:

2009

Langue:

english

Fichier:

PDF, 65 KB

english, 2009

9

Muscle transformation of the sartorius muscle in a canine model

Harald R. Rosen, Guido Dorner, Wolfgang Feil, Gerald Zöch, Karl Renner, Reginald Bittner, Rudolf Schiessel

Journal:

Diseases of the Colon & Rectum

Année:

1997

Langue:

english

Fichier:

PDF, 772 KB

english, 1997

10

Increased sensitivity to rocuronium and atracurium in mitochondrial myopathy

Josef Finsterer, Ursula Stratil, Reginald Bittner, Paul Sporn

Journal:

Canadian Journal of Anesthesia/Journal canadien d'anesthésie

Année:

1998

Langue:

english

Fichier:

PDF, 325 KB

english, 1998

11

Severe depletion of mitochondrial DNA in spinal muscular atrophy

Alexandra Berger, Johannes A. Mayr, David Meierhofer, Ulrike Fötschl, Reginald Bittner, Herbert Budka, Claude Grethen, Michael Huemer, Barbara Kofler, Wolfgang Sperl

Journal:

Acta Neuropathologica

Année:

2003

Langue:

english

Fichier:

PDF, 284 KB

english, 2003

12

Spatial distribution of β-spectrin in normal and dystrophic human skeletal muscle

S. Ehmer, R. Herrmann, Reginald Bittner, T. Voit

Journal:

Acta Neuropathologica

Année:

1997

Langue:

english

Fichier:

PDF, 625 KB

english, 1997

13

10.1038/13770

Bittner, Reginald E., Anderson, Louise V.B., Burkhardt, Elke, Bashir, Rumaisa, Vafiadaki, Elizabeth, Ivanova, Silva, Raffelsberger, Thomas, Maerk, Isabel, Höger, Harald, Jung, Martin, Karbasiyan, Mohs

Journal:

Nature Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 305 KB

english, 1999

14

Loss of nucleoplasmic LAP2α–lamin A complexes causes erythroid and epidermal progenitor hyperproliferation

Naetar, Nana, Korbei, Barbara, Kozlov, Serguei, Kerenyi, Marc A., Dorner, Daniela, Kral, Rosana, Gotic, Ivana, Fuchs, Peter, Cohen, Tatiana V., Bittner, Reginald

Journal:

Nature Cell Biology

Année:

2008

Langue:

english

Fichier:

PDF, 4.62 MB

english, 2008

15

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria

Frei, Klemens, Szuhai, Károly, Lucas, Trevor, Weipoltshammer, Klara, Schöfer, Christian, Ramsebner, Reinhard, Baumgartner, Wolf-Dieter, Raap, Anton K, Bittner, Reginald, Wachtler, Franz J

Journal:

European Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 139 KB

english, 2002

16

Association of Mitochondria with Plectin and Desmin Intermediate Filaments in Striated Muscle

Siegfried Reipert, Ferdinand Steinböck, Irmgard Fischer, Reginald E. Bittner, Anikó Zeöld, Gerhard Wiche

Journal:

Experimental Cell Research

Année:

1999

Langue:

english

Fichier:

PDF, 1.69 MB

english, 1999

17

Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin gene

Reginald E. Bittner, Sigrid Shorny, Roland Ferlings, Wolfgang Sperl, Wolfram Kress, Clemens R. Moller, Marion Cremer, Jean J. Leger, Thomas Voit

Journal:

Neuromuscular Disorders

Année:

1995

Langue:

english

Fichier:

PDF, 1.07 MB

english, 1995

18

SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients

Lea Papić, Dirk Fischer, Slave Trajanoski, Romana Höftberger, Carina Fischer, Thomas Ströbel, Wolfgang M. Schmidt, Reginald E. Bittner, Maria Schabhüttl, Karin Gruber, Thomas R. Pieber, Andreas R. Jan

Journal:

European Journal of Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2011

19

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

Astrid Milic, Nathalie Daniele, Hanns Lochmüller, Marina Mora, Giacomo P. Comi, Maurizio Moggio, Fanny Noulet, Maggie C. Walter, Lucia Morandi, Jérôme Poupiot, Carinne Roudaut, Reginald E. Bittner, Ma

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 369 KB

english, 2007

20

Aberrant development of neuromuscular junctions in glycosylation-defective Largemyd mice

Ruth Herbst, Thomas Iskratsch, Ewald Unger, Reginald E. Bittner

Journal:

Neuromuscular Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 878 KB

english, 2009

21

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy

Birgit Acham-Roschitz, Barbara Plecko, Franz Lindbichler, Reginald Bittner, Christoph J. Mache, Wolfgang Sperl, Johannes A. Mayr

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 868 KB

english, 2009

22

Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome

Miranda L. Skyllouriotis, Manfred Marx, Reginald E. Bittner, Petros Skyllouriotis, Manfred Gross, Maria Wimmer

Journal:

Pediatric Neurology

Année:

1997

Langue:

english

Fichier:

PDF, 546 KB

english, 1997

23

Nemaline myopathy and cardiomyopathy

Miranda L Skyllouriotis, Manfred Marx, Petros Skyllouriotis, Reginald Bittner, Maria Wimmer

Journal:

Pediatric Neurology

Année:

1999

Langue:

english

Fichier:

PDF, 1.19 MB

english, 1999

24

Angina for 14 years

Claudia Stöllberger, Josef Finsterer, Reginald E Bittner

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 31 KB

english, 1997

25

10.1038/88865

Grewal, Prabhjit K., Holzfeind, Paul J., Bittner, Reginald E., Hewitt, Jane E.

Journal:

Nature Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2001

26

Altered sodium channel function in dystrophin/utrophin-deficient cardiomyocytes

Xaver Koenig, Agnes Mike, Markus Mille, René Cervenka, Péter Lukács, Katrin Nagl, Xuan Bach Dang, Hannes Todt, Reginald E Bittner, Karlheinz Hilber

Journal:

BMC Pharmacology

Année:

2010

Langue:

english

Fichier:

PDF, 91 KB

english, 2010

27

Direct Visualization of the Dystrophin Network on Skeletal Muscle Fiber Membrane

Volker Straub, Reginald E. Bittner, Jean J. Léger and Thomas Voit

Journal:

The Journal of Cell Biology

Année:

1992

Langue:

english

Fichier:

PDF, 2.19 MB

english, 1992

28

The susceptibility to experimental autoimmune encephalomyelitis is not related to dysferlin-deficiency

Hochmeister, Sonja, Bittner, Reginald E., Höger, Harald, Lassmann, Hans, Bradl, Monika

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 587 KB

english, 2009

29

Characterization of Stargardt Disease Using Polarization-Sensitive Optical Coherence Tomography and Fundus Autofluorescence Imaging

Ritter, Markus, Zotter, Stefan, Schmidt, Wolfgang M., Bittner, Reginald E., Deak, Gabor G., Pircher, Michael, Sacu, Stefan, Hitzenberger, Christoph K., Schmidt-Erfurth, Ursula M.

Journal:

Investigative Ophthalmology & Visual Science

Année:

2013

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2013

30

Isolation of Borrelia burgdorferi from the Myocardium of a Patient with Long-Standing Cardiomyopathy

Stanek, Gerold, Klein, Jutta, Bittner, Reginald, Glogar, Dietmar

Journal:

Boston Medical and Surgical Journal

Année:

1990

Fichier:

PDF, 10.43 MB

1990

31

DNA Damage, Somatic Aneuploidy, and Malignant Sarcoma Susceptibility in Muscular Dystrophies

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., Orr, Harry T.

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 5.67 MB

english, 2011

32

Serum Antibodies to the Deleted Dystrophin Sequence after Cardiac Transplantation in a Patient with Becker's Muscular Dystrophy

Bittner, Reginald E., Shorny, Sigrid, Streubel, Berthold, Hübner, Christoph, Voit, Thomas, Kress, Wolfram

Journal:

Boston Medical and Surgical Journal

Année:

1995

Langue:

english

Fichier:

PDF, 199 KB

english, 1995

33

Time Course of Histomorphometric Alterations in Nerve Grafts without Connection to a Muscle Target Organ: An Experimental Study in Sheep

Frey, Manfred, Koller, Rupert, Gruber, Isabel, Liegl, Christian, Bittner, Reginald, Gruber, Helmut

Journal:

Journal of Reconstructive Microsurgery

Année:

1992

Langue:

english

Fichier:

PDF, 2.85 MB

english, 1992

34

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

Schmidt, Wolfgang M., Rutledge, S. Lane, Schüle, Rebecca, Mayerhofer, Benjamin, Züchner, Stephan, Boltshauser, Eugen, Bittner, Reginald E.

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2015

35

Acute decompensated heart failure associated with a heteroplasmic 3243A>G mitochondrial DNA point mutation

Auer, Johann, Wallner, Manfred, Windpessl, Martin, Schmidt, Wolfgang M., Bittner, Reginald E., Baradaran-Dilmaghani, Ramin, Berent, Robert

Journal:

European Heart Journal

Année:

2016

Langue:

english

Fichier:

PDF, 216 KB

english, 2016

36

Classification of Malignant Hyperthermia-Equivocal Patients by 4-Chloro-M-Cresol

Gilly, Hermann, Musat, Iulian, Fricker, Ruth, Bittner, Reginald E., Steinbereithner, Karl, Kress, Hans-Georg

Journal:

Anesthesia & Analgesia

Année:

1997

Langue:

english

Fichier:

PDF, 970 KB

english, 1997

37

Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation

Vafiadaki, Elizabeth, Reis, Andre, Keers, Sharon, Harrison, Ruth, Anderson, Louise V. B., Raffelsberger, Thomas, Ivanova, Silva, Hoger, Harald, Bittner, Reginald E., Bushby, Kate, Bashir, Rumaisa

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 440 KB

english, 2001

38

Classification of Malignant Hyperthermia-Equivocal Patients by 4-Chloro-M-Cresol

Gilly, Hermann, Musat, Iulian, Fricker, Ruth, Bittner, Reginald E., Steinbereithner, Karl, Kress, Hans-Georg

Journal:

Anesthesia & Analgesia

Année:

1997

Langue:

english

Fichier:

PDF, 970 KB

english, 1997

39

Dysferlin Is a New Marker for Leaky Brain Blood Vessels in Multiple Sclerosis

Hochmeister, Sonja, Grundtner, Roland, Bauer, Jan, Engelhardt, Britta, Lyck, Ruth, Gordon, Grace, Korosec, Thomas, Kutzelnigg, Alexandra, Berger, Johannes J., Bradl, Monika, Bittner, Reginald E., Lass

Journal:

Journal of Neuropathology and Experimental Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 622 KB

english, 2006

40

MAP1B Is Required for Axon Guidance and Is Involved in the Development of the Central and Peripheral Nervous System

Arabella Meixner, Silke Haverkamp, Heinz Wässle, Susanne Führer, Johann Thalhammer, Nina Kropf, Reginald E. Bittner, Hans Lassmann, Gerhard Wiche and Friedrich Propst

Journal:

The Journal of Cell Biology

Année:

2000

Langue:

english

Fichier:

PDF, 3.70 MB

english, 2000

41

Histomorphometric Studies in Patients with Facial Palsy Treated by Functional Muscle Transplantation: New Aspects for the Surgical Concept

Frey, Manfred, Happak, Wolfgang, Girsch, Werner, Bittner, Reginald E., Gruber, H

Journal:

Annals of Plastic Surgery

Année:

1991

Fichier:

PDF, 921 KB

1991

42

SNEV Prp19/PSO4 deficiency increases PUVA-induced senescence in mouse skin

Monteforte, Rossella, Beilhack, Georg F., Grausenburger, Reinhard, Mayerhofer, Benjamin, Bittner, Reginald, Grillari-Voglauer, Regina, Sibilia, Maria, Dellago, Hanna, Tschachler, Erwin, Gruber, Floria

Journal:

Experimental Dermatology

Année:

2016

Langue:

english

Fichier:

PDF, 681 KB

english, 2016

43

Myocardial late gadolinium enhancement is associated with clinical presentation in Duchenne muscular dystrophy carriers

Wexberg, Paul, Avanzini, Marion, Mascherbauer, Julia, Pfaffenberger, Stefan, Freudenthaler, Birgit, Bittner, Reginald, Bernert, Günther, Weidinger, Franz

Journal:

Journal of Cardiovascular Magnetic Resonance

Année:

2016

Langue:

english

Fichier:

PDF, 507 KB

english, 2016

44

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

Baumann, Matthias, Steichen-Gersdorf, Elisabeth, Krabichler, Birgit, Petersen, Britt-Sabina, Weber, Ulrike, Schmidt, Wolfgang M, Zschocke, Johannes, Müller, Thomas, Bittner, Reginald E, Janecke, Andre

Journal:

European Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2016

45

IMAGING OF VITELLIFORM MACULAR LESIONS USING POLARIZATION-SENSITIVE OPTICAL COHERENCE TOMOGRAPHY

Deák, Gábor G., Schmidt, Wolfgang M., Bittner, Reginald E., Mylonas, Georgios, Roberts, Philipp K., Zotter, Stefan, Baumann, Bernhard, Pircher, Michael, Hitzenberger, Christoph K., Schmidt-Erfurth, Ur

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1012 KB

english, 2017

46

Voltage-Gated Ion Channel Dysfunction Precedes Cardiomyopathy Development in the Dystrophic Heart

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, Rota, Marcello

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 568 KB

english, 2011

47

Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria

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

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 587 KB

english, 2018

48

Impaired muscle spindle function in murine models of muscular dystrophy

Gerwin, Laura, Rossmanith, Sarah, Haupt, Corinna, SchultheiÃ, JÃ¼rgen, Brinkmeier, Heinrich, Bittner, Reginald E., KrÃ¶ger, Stephan

Journal:

The Journal of Physiology

Année:

2020

Langue:

english

Fichier:

PDF, 2.83 MB

english, 2020

49

Clinical and Experimental Results on Cardiac Troponin Expression in Duchenne Muscular Dystrophy

Hammerer-Lercher, Angelika, Erlacher, Petra, Bittner, Reginald, Korinthenberg, Rudolf, Skladal, Daniela, Sorichter, Stephan, Sperl, Wolfgang, Puschendorf, Bernd, Mair, Johannes

Journal:

Clinical Chemistry

Année:

2001

Fichier:

PDF, 286 KB

2001