Torthaí cuardaigh - Schara, Ulrike

Therapeutic strategies in congenital myasthenic syndromes de réir Schara, Ulrike, Lochmüller, Hanns

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Cerebellar-Dependent Associative Learning Is Preserved in Duchenne Muscular Dystrophy: A Study Using Delay Eyeblink Conditioning de réir Schara, Ulrike, Busse, Melanie, Timmann, Dagmar, Gerwig, Marcus

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients de réir Kölbel, Heike, Hathazi, Denisa, Jennings, Matthew, Horvath, Rita, Roos, Andreas, Schara, Ulrike

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III de réir Kölbel, Heike, Hauffa, Berthold P., Wudy, Stefan A., Bouikidis, Anastasios, Della Marina, Adela, Schara, Ulrike

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III de réir Kölbel, Heike, Hauffa, Berthold P., Wudy, Stefan A., Bouikidis, Anastasios, Della Marina, Adela, Schara, Ulrike

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study de réir Della Marina, Adela, Wibbeler, Eva, Abicht, Angela, Kölbel, Heike, Lochmüller, Hanns, Roos, Andreas, Schara, Ulrike

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process de réir Braun, Frederik, Gangfuß, Andrea, Stöbe, Petra, Haack, Tobias B., Schweiger, Bernd, Roos, Andreas, Schara, Ulrike

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Expertenempfehlung: Therapie nichtgehfähiger Patienten mit Muskeldystrophie Duchenne de réir Bernert, Guenther, Hahn, Andreas, Köhler, Cornelia, Meyer, Sascha, Schara, Ulrike, Schlachter, Kurt, Trollmann, Regina, Walter, Maggie C.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency de réir Boczonadi, Veronika, Smith, Paul M., Pyle, Angela, Gomez-Duran, Aurora, Schara, Ulrike, Tulinius, Mar, Chinnery, Patrick F., Horvath, Rita

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

A Sum Score to Define Therapy-Refractory Myasthenia Gravis: A German Consensus de réir Schroeter, Michael, Berger, Benjamin, Blaes, Franz, Hagenacker, Tim, Jander, Sebastian, Kaiser, Julia, Kalischewski, Petra, Lee, De-Hyung, Ruck, Tobias, Schara, Ulrike, Urban, Peter, Meisel, Andreas

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy de réir Pechmann, Astrid, König, Kirsten, Bernert, Günther, Schachtrup, Kristina, Schara, Ulrike, Schorling, David, Schwersenz, Inge, Stein, Sabine, Tassoni, Adrian, Vogt, Sibylle, Walter, Maggie C., Lochmüller, Hanns, Kirschner, Janbernd

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy de réir Böhm, Johann, Vasli, Nasim, Maurer, Marie, Cowling, Belinda, Shelton, G. Diane, Kress, Wolfram, Toussaint, Anne, Prokic, Ivana, Schara, Ulrike, Anderson, Thomas James, Weis, Joachim, Tiret, Laurent, Laporte, Jocelyn

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Correction: Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy de réir Böhm, Johann, Vasli, Nasim, Maurer, Marie, Cowling, Belinda S., Shelton, G. Diane, Kress, Wolfram, Toussaint, Anne, Prokic, Ivana, Schara, Ulrike, Anderson, Thomas James, Weis, Joachim, Tiret, Laurent, Laporte, Jocelyn

Faigh an téacs iomlán Faigh an téacs iomlán

Mitochondrial dysfunction in liver failure requiring transplantation de réir Lane, Maria, Boczonadi, Veronika, Bachtari, Sahar, Gomez-Duran, Aurora, Langer, Thorsten, Griffiths, Alexandra, Kleinle, Stephanie, Dineiger, Christine, Abicht, Angela, Holinski-Feder, Elke, Schara, Ulrike, Gerner, Patrick, Horvath, Rita

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome de réir Marina, Adela Della, Schara, Ulrike, Pyle, Angela, Möller-Hartmann, Claudia, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Lochmüller, Hanns, Griffin, Helen, Santibanez-Koref, Mauro, Chinnery, Patrick F., Horvath, Rita

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation de réir Euro, Liliya, Konovalova, Svetlana, Asin-Cayuela, Jorge, Tulinius, Már, Griffin, Helen, Horvath, Rita, Taylor, Robert W., Chinnery, Patrick F., Schara, Ulrike, Thorburn, David R., Suomalainen, Anu, Chihade, Joseph, Tyynismaa, Henna

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany de réir Pechmann, Astrid, Langer, Thorsten, Schorling, David, Stein, Sabine, Vogt, Sibylle, Schara, Ulrike, Kölbel, Heike, Schwartz, Oliver, Hahn, Andreas, Giese, Kerstin, Johannsen, Jessika, Denecke, Jonas, Weiß, Claudia, Theophil, Manuela, Kirschner, Janbernd

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis de réir Park, Julien H, Elpers, Christiane, Reunert, Janine, McCormick, Michael L, Mohr, Julia, Biskup, Saskia, Schwartz, Oliver, Rust, Stephan, Grüneberg, Marianne, Seelhöfer, Anja, Schara, Ulrike, Boltshauser, Eugen, Spitz, Douglas R, Marquardt, Thorsten

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism de réir Meinke, Peter, Kerr, Alastair R.W., Czapiewski, Rafal, de las Heras, Jose I., Dixon, Charles R., Harris, Elizabeth, Kölbel, Heike, Muntoni, Francesco, Schara, Ulrike, Straub, Volker, Schoser, Benedikt, Wehnert, Manfred, Schirmer, Eric C.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis de réir Preuße, Corinna, Allenbach, Yves, Hoffmann, Olaf, Goebel, Hans-Hilmar, Pehl, Debora, Radke, Josefine, Doeser, Alexandra, Schneider, Udo, Alten, Rieke H.E., Kallinich, Tilmann, Benveniste, Olivier, von Moers, Arpad, Schoser, Benedikt, Schara, Ulrike, Stenzel, Werner

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán