Heike Kölbel

ORCID

Publication Activity (10 Years)

Years Active: 2020-2022
Publications (10 Years): 5

Top Venues

Children (Basel, Switzerland)

Neuropathology and applied neurobiology

Human mutation

Genes

This page only lists publications with an associated author ORCID identifier.

Publications

Heike Kölbel, Laura Modler, Astrid Blaschek, Ulrike Schara-Schmidt, Katharina Vill, Oliver Schwartz, Wolfgang Müller-Felber
Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening. Children (Basel, Switzerland) 9 (12) (2022)
Heike Kölbel, Laura Modler, Astrid Blaschek, Ulrike Schara-Schmidt, Katharina Vill, Oliver Schwartz, Wolfgang Müller-Felber
Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening. Children (Basel, Switzerland) 9 (12) (2022)
Heike Kölbel, Florian Kraft, Andreas Hentschel, Artur Czech, Andrea Gangfuß, Payam Mohassel, Chi Nguyen, Werner Stenzel, Ulrike Schara-Schmidt, Corinna Preuße, Andreas Roos
New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1. Genes 13 (5) (2022)
Heike Kölbel, Corinna Preuße, Lukas Brand, Arpad von Moers, Adela Della Marina, Markus Schuelke, Andreas Roos, Hans-Hilmar Goebel, Ulrike Schara-Schmidt, Werner Stenzel
Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages. Neuropathology and applied neurobiology 47 (6) (2021)
Heike Kölbel, Andreas Roos, Peter F M van der Ven, Teresinha Evangelista, Kay Nolte, Katherine Johnson, Ana Töpf, Michael Wilson, Wolfram Kress, Albert Sickmann, Volker Straub, Laxmikanth Kollipara, Joachim Weis, Dieter O Fürst, Ulrike Schara
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC. Human mutation 41 (9) (2020)

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Publication Activity (10 Years)

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Heike Kölbel