Bjarne Udd Selected Research

Nucleotides

1/2024	Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
1/2017	A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.

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Bjarne Udd Research Topics

Disease

34	Muscular Diseases (Myopathy) 04/2024 - 05/2008
29	Distal Myopathies (Distal Muscular Dystrophy) 01/2024 - 09/2002
11	Muscular Dystrophies (Muscular Dystrophy) 10/2022 - 02/2007
11	Myotonic Dystrophy (Dystrophia Myotonica) 08/2019 - 10/2003
11	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2019 - 02/2007
7	Hereditary Myopathy with Early Respiratory Failure 03/2019 - 11/2010
6	Cardiomyopathies (Cardiomyopathy) 01/2024 - 05/2010
6	Myofibrillar Myopathy 04/2015 - 03/2009
5	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2022 - 09/2010
4	Sarcoglycanopathies 01/2020 - 05/2008
4	Myotonia 01/2019 - 02/2010
4	Type 2J Limb-Girdle Muscular Dystrophy 07/2015 - 06/2008
3	Inborn Genetic Diseases (Disease, Hereditary) 03/2024 - 01/2018
3	Nemaline Myopathies (Nemaline Myopathy) 01/2024 - 06/2007
3	Frontotemporal Dementia (Semantic Dementia) 01/2022 - 08/2011
3	Muscle Weakness 01/2021 - 02/2010
2	Ophthalmoplegia (External Ophthalmoplegia) 06/2024 - 06/2014
2	Osteitis Deformans (Paget's Disease of Bone) 01/2022 - 01/2018
2	Contracture 07/2019 - 12/2015
2	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 06/2019 - 01/2018
2	Channelopathies 01/2019 - 01/2018
2	Type 1D Limb-Girdle Muscular Dystrophy 02/2016 - 02/2012
2	Limb-girdle muscular dystrophy type 2A 07/2015 - 09/2010
2	Ataxia (Dyssynergia) 09/2005 - 08/2005
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2024
1	Neuroblastoma 01/2023
1	Habitual Abortion (Recurrent Miscarriage) 01/2023
1	Type II Distal Hereditary Motor Neuropathy 01/2023
1	Type 2I Charcot-Marie-Tooth disease 01/2023
1	Inclusion Body Myositis 08/2022
1	Coma (Comas) 01/2021
1	Respiratory Insufficiency (Respiratory Failure) 01/2021
1	Neuromuscular Diseases (Neuromuscular Disease) 02/2020
1	Meige Syndrome 12/2019
1	Disease Progression 11/2019
1	Type 1F Limb-Girdle Muscular Dystrophy 06/2019
1	Cap Myopathy 01/2019
1	Cardiomegaly (Heart Hypertrophy) 01/2019
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 11/2018
1	Rare Diseases (Rare Disease) 01/2018
1	Pain (Aches) 01/2018
1	Proteostasis Deficiencies 01/2018
1	Fibromyalgia (Fibrositis) 01/2018
1	Paralysis (Palsy) 01/2018
1	Glycogen Storage Disease Type VII (Tarui's Disease) 01/2016

Drug/Important Bio-Agent (IBA)

28	ConnectinIBA 03/2024 - 09/2002
26	Proteins (Proteins, Gene)FDA Link 03/2024 - 09/2002
6	RNA (Ribonucleic Acid)IBA 04/2024 - 02/2010
5	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 03/2014
5	Protein Isoforms (Isoforms)IBA 10/2015 - 05/2010
4	Myosin Heavy Chains (Myosin Heavy Chain)IBA 01/2023 - 05/2010
4	Valosin Containing ProteinIBA 01/2022 - 08/2011
4	nebulinIBA 01/2021 - 06/2007
4	Messenger RNA (mRNA)IBA 03/2014 - 02/2010
3	Biomarkers (Surrogate Marker)IBA 11/2019 - 07/2014
3	CalpainIBA 12/2015 - 09/2010
2	Muscle Proteins (Muscle Protein)IBA 03/2024 - 01/2021
2	Myosins (Myosin)IBA 02/2024 - 06/2014
2	NucleotidesIBA 01/2024 - 01/2017
2	Amino Acids FDA Link 11/2023 - 09/2005
2	CalciumIBA 01/2023 - 08/2022
2	Crystallins (Crystallin)IBA 01/2023 - 02/2020
2	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 12/2020 - 01/2019
2	Codon (Codons)IBA 10/2019 - 06/2019
2	CollagenIBA 07/2019 - 11/2017
2	DysferlinIBA 01/2019 - 06/2013
2	Mitochondrial DNA (mtDNA)IBA 11/2018 - 08/2005
2	Sarcoglycans (beta Sarcoglycan)IBA 01/2018 - 05/2008
2	Peptide Hydrolases (Proteases)FDA Link 07/2015 - 09/2010
2	FilaminsIBA 08/2012 - 06/2011
1	Protein Kinases (Protein Kinase)IBA 03/2024
1	Serine (L-Serine)FDA Link 03/2024
1	MyogeninIBA 01/2023
1	Heat-Shock Proteins (Heat-Shock Protein)IBA 01/2023
1	polyglutamineIBA 01/2023
1	Carrier Proteins (Binding Protein)IBA 01/2023
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 01/2023
1	DNA-Binding Proteins (DNA Binding Protein)IBA 01/2023
1	TubulinIBA 01/2023
1	ActininIBA 01/2023
1	AnnexinsIBA 10/2022
1	Laminin (Merosin)IBA 01/2021
1	Complementary RNA (cRNA)IBA 01/2020
1	milk-derived factorIBA 08/2019
1	Superoxide Dismutase-1IBA 06/2019
1	Sodium Channels (Sodium Channel)IBA 01/2019
1	Nonsense Codon (Nonsense Mutation)IBA 01/2019
1	Voltage-Gated Sodium ChannelsIBA 01/2018
1	TropomyosinIBA 01/2018
1	SodiumIBA 01/2018
1	DystrophinIBA 12/2017
1	polyglucosanIBA 10/2016
1	Initiator Codon (Start Codon)IBA 10/2016
1	Untranslated Regions (Untranslated Region)IBA 01/2016
1	AmmoniaIBA 01/2016
1	GlycogenIBA 01/2016
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2016

Therapy/Procedure

6	Therapeutics 11/2019 - 02/2007
1	Mechanical Ventilators (Ventilator) 06/2024
1	Tracheostomy 01/2021