Therapeutic strategies in congenital myasthenic syndromes

por Schara, Ulrike, Lochmüller, Hanns
Publicado no Neurotherapeutics (2008)

Cerebellar-Dependent Associative Learning Is Preserved in Duchenne Muscular Dystrophy: A Study Using Delay Eyeblink Conditioning

por Schara, Ulrike, Busse, Melanie, Timmann, Dagmar, Gerwig, Marcus
Publicado no PLoS One (2015)

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients

por Kölbel, Heike, Hathazi, Denisa, Jennings, Matthew, Horvath, Rita, Roos, Andreas, Schara, Ulrike
Publicado no Front Neurol (2019)

Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III

por Kölbel, Heike, Hauffa, Berthold P., Wudy, Stefan A., Bouikidis, Anastasios, Della Marina, Adela, Schara, Ulrike
Publicado no PLoS One (2017)

Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III

por Kölbel, Heike, Hauffa, Berthold P., Wudy, Stefan A., Bouikidis, Anastasios, Della Marina, Adela, Schara, Ulrike
Publicado no PLoS One (2017)

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study

por Della Marina, Adela, Wibbeler, Eva, Abicht, Angela, Kölbel, Heike, Lochmüller, Hanns, Roos, Andreas, Schara, Ulrike
Publicado no Front Hum Neurosci (2020)

Expertenempfehlung: Therapie nichtgehfähiger Patienten mit Muskeldystrophie Duchenne

por Bernert, Guenther, Hahn, Andreas, Köhler, Cornelia, Meyer, Sascha, Schara, Ulrike, Schlachter, Kurt, Trollmann, Regina, Walter, Maggie C.
Publicado no Nervenarzt (2020)

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

por Boczonadi, Veronika, Smith, Paul M., Pyle, Angela, Gomez-Duran, Aurora, Schara, Ulrike, Tulinius, Mar, Chinnery, Patrick F., Horvath, Rita
Publicado em 2013

A Sum Score to Define Therapy-Refractory Myasthenia Gravis: A German Consensus

por 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
Publicado no J Cent Nerv Syst Dis (2021)

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy

por 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
Publicado no Orphanet J Rare Dis (2019)

Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

por 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
Publicado em 2013

Correction: Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

por 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
Publicado em 2013

Mitochondrial dysfunction in liver failure requiring transplantation

por 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
Publicado no J Inherit Metab Dis (2016)

NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome

por 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
Publicado em 2012

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

por 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
Publicado no Front Genet (2015)

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany

por 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
Publicado no J Neuromuscul Dis (2018)

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

por 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
Publicado no Brain (2019)

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism

por 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.
Publicado no EBioMedicine (2019)

Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis

por 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
Publicado no Acta Neuropathol Commun (2016)

One Year of Newborn Screening for SMA – Results of a German Pilot Project

por Vill, Katharina, Kölbel, Heike, Schwartz, Oliver, Blaschek, Astrid, Olgemöller, Bernhard, Harms, Erik, Burggraf, Siegfried, Röschinger, Wulf, Durner, Jürgen, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Schara, Ulrike, Jensen, Beate, Becker, Marc, Hohenfellner, Katharina, Müller-Felber, Wolfgang
Publicado no J Neuromuscul Dis (2019)