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Bjarne Udd Selected Research

RHYNS syndrome

8/2005Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.

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Bjarne Udd Research Topics

Disease

27Distal Myopathies (Distal Muscular Dystrophy)
08/2022 - 09/2002
27Muscular Diseases (Myopathy)
01/2021 - 05/2008
11Myotonic Dystrophy (Dystrophia Myotonica)
08/2019 - 10/2003
11Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
01/2019 - 02/2007
10Muscular Dystrophies (Muscular Dystrophy)
01/2021 - 02/2007
7Hereditary Myopathy with Early Respiratory Failure
03/2019 - 11/2010
6Myofibrillar Myopathy
04/2015 - 03/2009
5Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
01/2022 - 09/2010
4Sarcoglycanopathies
01/2020 - 05/2008
4Myotonia
01/2019 - 02/2010
4Type 2J Limb-Girdle Muscular Dystrophy
07/2015 - 06/2008
3Muscle Weakness
01/2021 - 02/2010
3Cardiomyopathies (Cardiomyopathy)
10/2020 - 05/2010
2Inborn Genetic Diseases (Disease, Hereditary)
01/2020 - 01/2018
2Contracture
07/2019 - 12/2015
2Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
06/2019 - 01/2018
2Channelopathies
01/2019 - 01/2018
2Frontotemporal Dementia (Semantic Dementia)
01/2018 - 08/2011
2Nemaline Myopathies (Nemaline Myopathy)
01/2018 - 06/2007
2Type 1D Limb-Girdle Muscular Dystrophy
02/2016 - 02/2012
2Limb-girdle muscular dystrophy type 2A
07/2015 - 09/2010
2Ataxia (Dyssynergia)
09/2005 - 08/2005
1Inclusion Body Myositis
08/2022
1Coma (Comas)
01/2021
1Respiratory Insufficiency (Respiratory Failure)
01/2021
1Neuromuscular Diseases (Neuromuscular Disease)
02/2020
1Meige Syndrome
12/2019
1Disease Progression
11/2019
1Type 1F Limb-Girdle Muscular Dystrophy
06/2019
1Cap Myopathy
01/2019
1Cardiomegaly (Heart Hypertrophy)
01/2019
1Mitochondrial Myopathies (Mitochondrial Myopathy)
11/2018
1Proteostasis Deficiencies
01/2018
1Rare Diseases (Rare Disease)
01/2018
1Osteitis Deformans (Paget's Disease of Bone)
01/2018
1Pain (Aches)
01/2018
1Fibromyalgia (Fibrositis)
01/2018
1Paralysis (Palsy)
01/2018
1Glycogen Storage Disease Type V (McArdle's Disease)
01/2016
1Glycogen Storage Disease Type VII (Tarui's Disease)
01/2016
1Glycogen Storage Disease (Glycogenosis)
06/2015
1Glycogen Storage Disease Type II (Pompe's Disease)
11/2014
1Hyperlipidemias (Hyperlipidemia)
08/2014
1Spinal Muscular Atrophy (Progressive Muscular Atrophy)
07/2014
1Myosin Storage Myopathy
07/2014
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
07/2014
1Ophthalmoplegia (External Ophthalmoplegia)
06/2014
1Atrophy
01/2014

Drug/Important Bio-Agent (IBA)

25ConnectinIBA
10/2020 - 09/2002
22Proteins (Proteins, Gene)FDA Link
01/2021 - 09/2002
5RNA (Ribonucleic Acid)IBA
08/2022 - 02/2010
5DNA (Deoxyribonucleic Acid)IBA
01/2022 - 03/2014
5Protein Isoforms (Isoforms)IBA
10/2015 - 05/2010
4nebulinIBA
01/2021 - 06/2007
4Messenger RNA (mRNA)IBA
03/2014 - 02/2010
3Valosin Containing ProteinIBA
12/2019 - 08/2011
3Biomarkers (Surrogate Marker)IBA
11/2019 - 07/2014
3CalpainIBA
12/2015 - 09/2010
3Myosin Heavy Chains (Myosin Heavy Chain)IBA
06/2014 - 05/2010
2Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
12/2020 - 01/2019
2Codon (Codons)IBA
10/2019 - 06/2019
2CollagenIBA
07/2019 - 11/2017
2DysferlinIBA
01/2019 - 06/2013
2Mitochondrial DNA (mtDNA)IBA
11/2018 - 08/2005
2Sarcoglycans (beta Sarcoglycan)IBA
01/2018 - 05/2008
2Peptide Hydrolases (Proteases)FDA Link
07/2015 - 09/2010
2FilaminsIBA
08/2012 - 06/2011
1CalciumIBA
08/2022
1Muscle Proteins (Muscle Protein)IBA
01/2021
1Laminin (Merosin)IBA
01/2021
1Crystallins (Crystallin)IBA
02/2020
1Complementary RNA (cRNA)IBA
01/2020
1milk-derived factorIBA
08/2019
1Superoxide Dismutase-1IBA
06/2019
1Sodium Channels (Sodium Channel)IBA
01/2019
1Nonsense Codon (Nonsense Mutation)IBA
01/2019
1Voltage-Gated Sodium ChannelsIBA
01/2018
1TropomyosinIBA
01/2018
1SodiumIBA
01/2018
1DystrophinIBA
12/2017
1NucleotidesIBA
01/2017
1polyglucosanIBA
10/2016
1Initiator Codon (Start Codon)IBA
10/2016
1GlycogenIBA
01/2016
1Lactic Acid (Lactate)FDA LinkGeneric
01/2016
1Untranslated Regions (Untranslated Region)IBA
01/2016
1AmmoniaIBA
01/2016
1EnzymesIBA
06/2015
1Creatine Kinase (Creatine Phosphokinase)IBA
11/2014
1UbiquitinIBA
08/2014
1Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA
08/2014
1Ligases (Synthetase)IBA
08/2014
1ProteomeIBA
07/2014
1Cardiac MyosinsIBA
07/2014
1Myosins (Myosin)IBA
06/2014
1Nonmuscle Myosin Type IIAIBA
06/2014
1Electron Transport Complex IV (Cytochrome c Oxidase)IBA
01/2014
1AnoctaminsIBA
06/2013

Therapy/Procedure

6Therapeutics
11/2019 - 02/2007
1Tracheostomy
01/2021