Arama Sonuçları - Bittner, Reginald E.

ABERRANT DEVELOPMENT OF NEUROMUSCULAR JUNCTIONS IN GLYCOSYLATION-DEFECTIVE LARGE(MYD) MICE Yazar: Herbst, Ruth, Iskratsch, Thomas, Unger, Ewald, Bittner, Reginald E.

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

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Ion channel impairments in dystrophic cardiomyocytes Yazar: König, Xaver, Mille, Markus, Kimbacher, Stefanie, Cervenka, René, Lukács, Péter, Todt, Hannes, Bittner, Reginald E, Hilber, Karlheinz

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Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency Yazar: Stepien, Karolina M., Schmidt, Wolfgang M., Bittner, Reginald E., O'Toole, Orna, McNamara, Brian, Treacy, Eileen P.

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Map1b Is Required for Axon Guidance and Is Involved in the Development of the Central and Peripheral Nervous System Yazar: Meixner, Arabella, Haverkamp, Silke, Wässle, Heinz, Führer, Susanne, Thalhammer, Johann, Kropf, Nina, Bittner, Reginald E., Lassmann, Hans, Wiche, Gerhard, Propst, Friedrich

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Altered sodium channel function in dystrophin/utrophin-deficient cardiomyocytes Yazar: Koenig, Xaver, Mike, Agnes, Mille, Markus, Cervenka, René, Lukács, Péter, Nagl, Katrin, Dang, Xuan Bach, Todt, Hannes, Bittner, Reginald E, Hilber, Karlheinz

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Impaired L-type Ca(2+) channel function in the dystrophic heart Yazar: Koenig, Xaver, Dang, Xuan B, Rubi, Lena, Mike, Ágnes K, Lukács, Péter, Cervenka, René, Gawali, Vaibhavkumar S, Todt, Hannes, Bittner, Reginald E, Hilber, Karlheinz

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

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Enhanced currents through L-type calcium channels in cardiomyocytes disturb the electrophysiology of the dystrophic heart Yazar: 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

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

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

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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 Yazar: 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

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SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients() Yazar: Papić, Lea, Fischer, Dirk, Trajanoski, Slave, Höftberger, Romana, Fischer, Carina, Ströbel, Thomas, Schmidt, Wolfgang M., Bittner, Reginald E., Schabhüttl, Maria, Gruber, Karin, Pieber, Thomas R., Janecke, Andreas R., Auer-Grumbach, Michaela

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Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration Yazar: 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

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

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

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