ABERRANT DEVELOPMENT OF NEUROMUSCULAR JUNCTIONS IN GLYCOSYLATION-DEFECTIVE LARGE(MYD) MICE

gan Herbst, Ruth, Iskratsch, Thomas, Unger, Ewald, Bittner, Reginald E.
Cyhoeddwyd 2009

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

gan Schmidt, Wolfgang M., Rutledge, S. Lane, Schüle, Rebecca, Mayerhofer, Benjamin, Züchner, Stephan, Boltshauser, Eugen, Bittner, Reginald E.
Cyhoeddwyd yn Am J Hum Genet (2015)

Ion channel impairments in dystrophic cardiomyocytes

gan König, Xaver, Mille, Markus, Kimbacher, Stefanie, Cervenka, René, Lukács, Péter, Todt, Hannes, Bittner, Reginald E, Hilber, Karlheinz
Cyhoeddwyd 2009

Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency

gan Stepien, Karolina M., Schmidt, Wolfgang M., Bittner, Reginald E., O'Toole, Orna, McNamara, Brian, Treacy, Eileen P.
Cyhoeddwyd yn JIMD Rep (2019)

Map1b Is Required for Axon Guidance and Is Involved in the Development of the Central and Peripheral Nervous System

gan Meixner, Arabella, Haverkamp, Silke, Wässle, Heinz, Führer, Susanne, Thalhammer, Johann, Kropf, Nina, Bittner, Reginald E., Lassmann, Hans, Wiche, Gerhard, Propst, Friedrich
Cyhoeddwyd 2000

Altered sodium channel function in dystrophin/utrophin-deficient cardiomyocytes

gan Koenig, Xaver, Mike, Agnes, Mille, Markus, Cervenka, René, Lukács, Péter, Nagl, Katrin, Dang, Xuan Bach, Todt, Hannes, Bittner, Reginald E, Hilber, Karlheinz
Cyhoeddwyd 2010

Impaired L-type Ca(2+) channel function in the dystrophic heart

gan Koenig, Xaver, Dang, Xuan B, Rubi, Lena, Mike, Ágnes K, Lukács, Péter, Cervenka, René, Gawali, Vaibhavkumar S, Todt, Hannes, Bittner, Reginald E, Hilber, Karlheinz
Cyhoeddwyd 2012

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

gan 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
Cyhoeddwyd 2011

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

gan 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
Cyhoeddwyd yn Am J Physiol Heart Circ Physiol (2013)

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

gan 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
Cyhoeddwyd yn Eur J Hum Genet (2017)

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

gan 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.
Cyhoeddwyd 2011

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

gan 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
Cyhoeddwyd 2014

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

gan 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
Cyhoeddwyd 2011

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

gan 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
Cyhoeddwyd 2007

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

gan 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
Cyhoeddwyd 2012

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

gan 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
Cyhoeddwyd yn Genet Med (2019)