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Per Harald Jonson Selected Research

Distal Myopathies (Distal Muscular Dystrophy)

8/2022Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.
1/2021Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
12/2020Panorama of the distal myopathies.
7/2015CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
1/2014Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.
4/2013Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.

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Per Harald Jonson Research Topics

Disease

6Distal Myopathies (Distal Muscular Dystrophy)
08/2022 - 04/2013
2Muscular Diseases (Myopathy)
02/2020 - 01/2018
2Inborn Genetic Diseases (Disease, Hereditary)
01/2020 - 01/2018
1Inclusion Body Myositis
08/2022
1Neuromuscular Diseases (Neuromuscular Disease)
02/2020
1Muscular Dystrophies (Muscular Dystrophy)
01/2018
1Type 2J Limb-Girdle Muscular Dystrophy
07/2015
1Limb-girdle muscular dystrophy type 2A
07/2015
1Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
07/2015
1Myotonic Dystrophy (Dystrophia Myotonica)
08/2014
1Hyperlipidemias (Hyperlipidemia)
08/2014
1Type 1D Limb-Girdle Muscular Dystrophy
02/2012
1Myofibrillar Myopathy
02/2012

Drug/Important Bio-Agent (IBA)

3Proteins (Proteins, Gene)FDA Link
01/2021 - 02/2012
3ConnectinIBA
01/2018 - 01/2014
2DNA (Deoxyribonucleic Acid)IBA
01/2020 - 01/2018
1RNA (Ribonucleic Acid)IBA
08/2022
1CalciumIBA
08/2022
1Muscle Proteins (Muscle Protein)IBA
01/2021
1Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
12/2020
1Crystallins (Crystallin)IBA
02/2020
1Complementary RNA (cRNA)IBA
01/2020
1Peptide Hydrolases (Proteases)FDA Link
07/2015
1CalpainIBA
07/2015
1Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA
08/2014
1Ligases (Synthetase)IBA
08/2014
1UbiquitinIBA
08/2014
1RNA-Binding Proteins (RNA-Binding Protein)IBA
04/2013
1Protein Isoforms (Isoforms)IBA
02/2012

Therapy/Procedure

1Therapeutics
08/2014