Editorial: Spinal Muscular Atrophy: Evolutions and Revolutions of Modern Therapy

by Richard S. Finkel, Ulrike Schara-Schmidt, Tim Hagenacker
Published 2020-07-01

Cerebellar-dependent associative learning is preserved in Duchenne muscular dystrophy: a study using delay eyeblink conditioning.

by Ulrike Schara, Melanie Busse, Dagmar Timmann, Marcus Gerwig
Published 2015-01-01

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

by Heike Kölbel, Berthold P Hauffa, Stefan A Wudy, Anastasios Bouikidis, Adela Della Marina, Ulrike Schara
Published 2017-01-01

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

by Heike Kölbel, Berthold P Hauffa, Stefan A Wudy, Anastasios Bouikidis, Adela Della Marina, Ulrike Schara
Published 2017-01-01

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

by Heike Kölbel, Denisa Hathazi, Denisa Hathazi, Matthew Jennings, Rita Horvath, Andreas Roos, Andreas Roos, Ulrike Schara
Published 2019-05-01

Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases

by Andreas Hentschel, Artur Czech, Ute Münchberg, Erik Freier, Ulrike Schara-Schmidt, Albert Sickmann, Jens Reimann, Andreas Roos
Published 2021-02-01

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

by Adela Della Marina, Eva Wibbeler, Angela Abicht, Angela Abicht, Heike Kölbel, Hanns Lochmüller, Hanns Lochmüller, Hanns Lochmüller, Andreas Roos, Ulrike Schara
Published 2020-12-01

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

by Michael Schroeter, Benjamin Berger, Franz Blaes, Tim Hagenacker, Sebastian Jander, Julia Kaiser, Petra Kalischewski, De-Hyung Lee, Tobias Ruck, Ulrike Schara, Peter Urban, Andreas Meisel
Published 2021-02-01

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

by Astrid Pechmann, Kirsten König, Günther Bernert, Kristina Schachtrup, Ulrike Schara, David Schorling, Inge Schwersenz, Sabine Stein, Adrian Tassoni, Sibylle Vogt, Maggie C. Walter, Hanns Lochmüller, Janbernd Kirschner
Published 2019-01-01

Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy

by Adela Della Marina, Marc Pawlitzki, Tobias Ruck, Andreas van Baalen, Nadine Vogt, Bernd Schweiger, Swantje Hertel, Heike Kölbel, Heinz Wiendl, Corinna Preuße, Andreas Roos, Ulrike Schara-Schmidt
Published 2021-08-01

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS

by Frederik Braun, Andreas Hentschel, Albert Sickmann, Theodore Marteau, Swantje Hertel, Fabian Förster, Holger Prokisch, Matias Wagner, Saskia Wortmann, Adela Della Marina, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt
Published 2021-07-01

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

by Johann Böhm, Nasim Vasli, Marie Maurer, Belinda S. Cowling, G. Diane Shelton, Wolfram Kress, Anne Toussaint, Ivana Prokic, Ulrike Schara, Thomas James Anderson, Joachim Weis, Laurent Tiret, Jocelyn Laporte
Published 2013-06-01

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

by Johann Böhm, Nasim Vasli, Marie Maurer, Belinda S. Cowling, G. Diane Shelton, Wolfram Kress, Anne Toussaint, Ivana Prokic, Ulrike Schara, Thomas James Anderson, Joachim Weis, Laurent Tiret, Jocelyn Laporte
Published 2013-06-01

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.

by Johann Böhm, Nasim Vasli, Marie Maurer, Belinda S Cowling, G Diane Shelton, Wolfram Kress, Anne Toussaint, Ivana Prokic, Ulrike Schara, Thomas James Anderson, Joachim Weis, Laurent Tiret, Jocelyn Laporte
Published 2013-06-01

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

by Luisa Paul, Katrin Rupprich, Adela Della Marina, Anja Stein, Magdeldin Elgizouli, Frank J. Kaiser, Bernd Schweiger, Angela Köninger, Antonella Iannaccone, Ute Hehr, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt, Alma Kuechler
Published 2020-09-01

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

by Peter Meinke, Alastair R.W. Kerr, Rafal Czapiewski, Jose I. de las Heras, Charles R. Dixon, Elizabeth Harris, Heike Kölbel, Francesco Muntoni, Ulrike Schara, Volker Straub, Benedikt Schoser, Manfred Wehnert, Eric C. Schirmer
Published 2020-01-01

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

by Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, Ulrike Schara, Laima Ambrozaityte, Birute Burnyte, Carmen Schröder, Asmaa Kenawy, Peter Kroisel, Stephanie Demuth, Gyorgy Fekete, Thomas Opladen, Miriam Elbracht, Thomas Eggermann
Published 2021-01-01

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

by Katharina Vill, Oliver Schwartz, Astrid Blaschek, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Ludwig Czibere, Jürgen Durner, Katja Eggermann, Bernhard Olgemöller, Erik Harms, Ulrike Schara, Heike Kölbel, Wolfgang Müller-Felber
Published 2021-03-01

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

by Tobias Geis, Tanja Rödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute Hehr, Heike Kölbel
Published 2019-07-01

Development of practice and consensus-based strategies including a treat-to-target approach for the management of moderate and severe juvenile dermatomyositis in Germany and Austri...

by Claas H. Hinze, Prasad T. Oommen, Frank Dressler, Andreas Urban, Frank Weller-Heinemann, Fabian Speth, Elke Lainka, Jürgen Brunner, Heike Fesq, Dirk Foell, Wolfgang Müller-Felber, Ulrich Neudorf, Christoph Rietschel, Tobias Schwarz, Ulrike Schara, Johannes-Peter Haas
Published 2018-06-01