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

Por Herbst, Ruth, Iskratsch, Thomas, Unger, Ewald, Bittner, Reginald E.
Publicado em 2009

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

Por Schmidt, Wolfgang M., Rutledge, S. Lane, Schüle, Rebecca, Mayerhofer, Benjamin, Züchner, Stephan, Boltshauser, Eugen, Bittner, Reginald E.
Publicado no Am J Hum Genet (2015)

Ion channel impairments in dystrophic cardiomyocytes

Por König, Xaver, Mille, Markus, Kimbacher, Stefanie, Cervenka, René, Lukács, Péter, Todt, Hannes, Bittner, Reginald E, Hilber, Karlheinz
Publicado em 2009

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

Por Stepien, Karolina M., Schmidt, Wolfgang M., Bittner, Reginald E., O'Toole, Orna, McNamara, Brian, Treacy, Eileen P.
Publicado no JIMD Rep (2019)

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

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

Altered sodium channel function in dystrophin/utrophin-deficient cardiomyocytes

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

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

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

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

Por 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
Publicado em 2011

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

Por 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
Publicado no Am J Physiol Heart Circ Physiol (2013)

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

Por 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
Publicado no Eur J Hum Genet (2017)

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

Por 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.
Publicado em 2011

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

Por 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
Publicado em 2014

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

Por 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
Publicado em 2011

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

Por 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
Publicado em 2007

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

Por 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
Publicado em 2012

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

Por 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
Publicado no Genet Med (2019)