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Brunhilde Wirth

University of Cologne - Institute of Human Genetics

Kerpener Str. 34

Köln

Germany

  • University of Cologne - Institute of Human Genetics

SCHOLARLY PAPERS

2

DOWNLOADS

127

TOTAL CITATIONS

1

Scholarly Papers (2)

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1.

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

Number of pages: 31 Posted: 11 Aug 2020
Katharina Vill, Oliver Schwartz, Astrid Blaschek, Dieter Gläser, Uta Nennstie, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Ludwig Czibere, Jürgen Durner, Katja Eggermann, Bernhard Olgemöller, Erik Harms, Ulrike Schara, Heike Kölbe and Wolfgang Müller-Felber
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

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

2.

Isogenic Patient-Derived Organoids Reveal Early Neurodevelopmental Defects in Spinal Muscular Atrophy Initiation

Number of pages: 74 Posted: 01 Aug 2023
Tobias Grass, Ines Rosignol, Joshua Thomas, Felix Buchner, Zeynep Dokuzluoglu, Anna Dalinskaya, Jutta Becker, Fabian Rost, Michele Marass, Brunhilde Wirth, Marc D. Beyer, Lorenzo Bonaguro, Natalia Rodriguez-Muela and Sneak Peek Administrator
German Center for Neurodegenerative Diseases (DZNE), German Center for Neurodegenerative Diseases (DZNE), German Center for Neurodegenerative Diseases (DZNE), German Center for Neurodegenerative Diseases (DZNE), University of Fribourg, German Center for Neurodegenerative Diseases (DZNE), University of Cologne, Dresden University of Technology - DRESDEN Genome Center TU Dresden, Max Planck Institute for Molecular Cell Biology and Genetics, University of Cologne - Institute of Human Genetics, German Center for Neurodegenerative Diseases (DZNE) - Systems Medicine, German Center for Neurodegenerative Diseases (DZNE), German Center for Neurodegenerative Diseases (DZNE) and Independent
Downloads 60 (989,921)

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Human induced pluripotent stem cells, disease modelling, genome editing, isogenic, spinal cord organoids, spinal muscular atrophy