Concepedia

David Schorling

DS

10

Publications

521

Citations

10

H-Index

2013

Active since

Affiliations

University of Freiburg(Current)

University Medical Center Freiburg

Ludwig-Maximilians-Universität München

Ottawa Hospital

University of Duisburg-Essen

David Schorling is an author at University of Freiburg specializing in medicine, common diseases, and neuromuscular disorders.

Top concepts

Publications per year

2013–2022

10

Publications

10

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

Astrid Pechmann, Thorsten Langer, David Schorling et al. · Journal of Neuromuscular Diseases · 2018 · 144 citations · Full text

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

Astrid Pechmann, Kirsten König, Günther Bernert et al. · Orphanet Journal of Rare Diseases · 2019 · 135 citations · Full text

Discrepancy in redetermination of <i>SMN2</i> copy numbers in children with SMA

David Schorling, Jutta Becker, Astrid Pechmann et al. · Neurology · 2019 · 54 citations

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna et al. · Nature Communications · 2021 · 50 citations · Full text

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

Kirsten König, Astrid Pechmann, Simone Thiele et al. · Orphanet Journal of Rare Diseases · 2019 · 31 citations · Full text

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