default author photo

Heike Kölbe

University of Duisburg-Essen - Department of Pediatric Neurology

Essen

Germany

SCHOLARLY PAPERS

2

DOWNLOADS

166

TOTAL CITATIONS

1

Scholarly Papers (2)

1.

Real-World Outcomes of Risdiplam in 5q Spinal Muscular Atrophy Over 30 Months in Adolescents and Adults: A Multicentre, Prospective, Observational SMArtCARE Study

Number of pages: 28 Posted: 05 Feb 2026
Ludwig Maximilian University of Munich (LMU), Heidelberg University, University of Duisburg-Essen, University of Duisburg-Essen, Medical University of Innsbruck, Universitätsklinikum Leipzig, Ludwig Maximilian University of Munich (LMU), Medical University of Vienna, Technische Universität München (TUM), Johannes Kepler University Linz, Dresden University of Technology, Justus-Liebig-University, Ludwig Maximilian University of Munich (LMU), University of Göttingen, University of Bonn - University Hospital Bonn (UKB), Friedrich-Schiller-Universität Jena - University Hospital Jena, University of Hamburg - University Medical Center Hamburg-Eppendorf, Klinikum Bremen Mitte, Medical University of Vienna, University of Freiburg, Ruhr University of Bochum, University of Duisburg-Essen, Paracelsus Medical University Salzburg, University of Duisburg-Essen - Department of Pediatric Neurology, Medical University of Innsbruck, Martin Luther University of Halle-Wittenberg - University Hospital Halle (Saale), Universitätsklinikum Leipzig, Universitätsklinikum Münster, Kantonsspital St Gallen, University of Freiburg, Hannover Medical School, Ordensklinikum Linz Hospital Barmherzige Schwestern, University of Duisburg-Essen - University Hospital of Essen, Klinikum Stuttgart, Friedrich-Schiller-Universität Jena - University Hospital Jena, Heidelberg University, DKD HELIOS Hospital Wiesbaden, Klinikum Kassel, University of Münster - Department of Pediatric Neurology, Medical University of Graz, Klinikum Klagenfurt am Wörthersee, Universitätsklinikum Schleswig-Holstein, Friedrich-Alexander-Universität Erlangen-Nürnberg - Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Ulm University - Department of Neurology, Ludwig Maximilian University of Munich (LMU), University of Cologne - University Hospital of Cologne, University of Würzburg, Independent, University of Ottawa and University of Duisburg-Essen - Department of Neurology
Downloads 99 (816,709)

Abstract:

Loading...

Oral therapy, Motor Neuron Disease, Risdiplam, Small molecule, Spinal muscular atrophy

2.

Newborn Screening for SMA - Results after Two Years of a German Pilot Project

Number of pages: 31 Posted: 11 Aug 2020
Ludwig Maximilian University of Munich (LMU) - Department of Pediatric Neurology and Developmental Medicine, University of Münster - Department of Pediatric Neurology, Ludwig Maximilian University of Munich (LMU) - Department of Pediatric Neurology and Developmental Medicine, genetikum®, Bavarian Health And Food Safety Authority (LGL) - Screening Center, University of Cologne - Institute of Human Genetics, Labor Becker und Kollegen, Labor Becker und Kollegen, Labor Becker und Kollegen, Labor Becker und Kollegen, Labor Becker und Kollegen, RWTH Aachen University - Institute of Human Genetics, Labor Becker und Kollegen, University of Münster - Department of Pediatrics, University of Duisburg-Essen - Department of Pediatric Neurology, University of Duisburg-Essen - Department of Pediatric Neurology and Ludwig Maximilian University of Munich (LMU) - Department of Pediatric Neurology and Developmental Medicine
Downloads 67 (907,769)
Citation 1

Abstract:

Loading...

Spinal muscular atrophy; Newborn screening; survival motor neuron gene; SMN2 copy number: Outcome; Prognosis