Concepedia
Statistics
Publications
7
Citations
175
H-Index
Active since
2001
Affiliations
University of Ferrara(Current)
University Hospital of Basel
University of Basel
University of Chieti-Pescara
Jan Eckhardt is an author at University of Ferrara specializing in muscle physiology, genetics, and neuromuscular disorders.
Publications per year
2001–2023
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia
A. Taillandier, Anne-Sophie Lia-Baldini, M. Mouchard et al. · Human Mutation · 2001 · 60 citations · Full text
Medicine, Genetics, Molecular Genetics +17
Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength
Moran Elbaz, Alexis Ruiz, Christoph Bachmann et al. · Human Molecular Genetics · 2019 · 31 citations · Full text
Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies
Jan Eckhardt, Alexis Ruiz, Stéphane Koenig et al. · eLife · 2023 · 24 citations · Full text
Life Sciences, Genetics, Molecular Biology +12
Extraocular muscle function is impaired in <i>ryr3</i>−/− mice
Jan Eckhardt, Christoph Bachmann, Marijana Sekulic‐Jablanovic et al. · The Journal of General Physiology · 2019 · 20 citations · Full text
Life Sciences, Cell Biology, Physiology +17
Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles
Barbara Mosca, Jan Eckhardt, Leda Bergamelli et al. · Journal of Biological Chemistry · 2016 · 14 citations · Full text
Life Sciences, Biochemistry, Physiology +16
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