Concepedia

Heike Kölbel

HK

Statistics

Publications

39

Citations

1.7K

H-Index

23

Active since

2017

Affiliations

University of Duisburg-Essen(Current)

Ludwig-Maximilians-Universität München

University Hospital Münster

University of Freiburg

Essen University Hospital

Heike Kölbel is an author at University of Duisburg-Essen specializing in medicine, pediatrics, and neurology.

Publications per year

2017–2025

39

Publications

39

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

Katharina Vill, Heike Kölbel, Oliver Schwartz et al. · Journal of Neuromuscular Diseases · 2019 · 189 citations · Full text

Medicine, Neurology, Pediatrics +17

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

Katharina Vill, Oliver Schwartz, Astrid Blaschek et al. · Orphanet Journal of Rare Diseases · 2021 · 163 citations · Full text

Medicine, Neurology, Pediatrics +17

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel, Sandra Donkervoort, Museer A. Lone et al. · Nature Medicine · 2021 · 152 citations · Full text

Life Sciences, Neurology, Neuroscience +14

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 · 149 citations · Full text

Medicine, Neurology, Neuromuscular Disorders +14

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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