Yukiko K Hayashi Selected Research

N-acylmannosamine kinase

10/2014	Nationwide patient registry for GNE myopathy in Japan.
5/2014	GNE myopathy: a prospective natural history study of disease progression.
1/2013	Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles).
7/2012	Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
11/2007	A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
1/2007	A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
12/2006	Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.
3/2004	Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Yukiko K Hayashi Research Topics

Disease

24	Muscular Diseases (Myopathy) 01/2019 - 12/2004
13	Muscular Dystrophies (Muscular Dystrophy) 01/2020 - 03/2003
7	Distal Myopathies (Distal Muscular Dystrophy) 01/2015 - 10/2004
7	Nonaka type Distal myopathy 07/2012 - 03/2004
6	Miyoshi myopathy 10/2015 - 04/2003
5	type 2B Limb-girdle muscular dystrophy 10/2015 - 12/2002
4	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2019 - 05/2003
4	Cardiomyopathies (Cardiomyopathy) 01/2019 - 08/2007
4	Muscular Atrophy (Muscle Atrophy) 10/2017 - 06/2009
4	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 10/2017 - 01/2010
4	Muscle Weakness 09/2014 - 05/2007
3	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy) 01/2019 - 01/2009
3	Laminopathies 01/2019 - 11/2010
3	Dysferlinopathy 10/2015 - 07/2003
3	Myositis (Idiopathic Inflammatory Myopathies) 05/2015 - 05/2007
3	Atrophy 09/2014 - 09/2008
3	Walker-Warburg Syndrome 11/2006 - 06/2004
2	Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy) 10/2018 - 09/2009
2	Facioscapulohumeral Muscular Dystrophy 06/2016 - 04/2016
2	Congenital Structural Myopathies (Centronuclear Myopathy) 02/2015 - 07/2012
2	Hypertrophy 03/2014 - 09/2009
2	Disease Progression 05/2013 - 06/2012
2	Respiratory Insufficiency (Respiratory Failure) 01/2013 - 03/2012
2	Glycogen Storage Disease Type II (Pompe's Disease) 05/2012 - 03/2012
2	Mitochondrial Diseases (Mitochondrial Disease) 10/2011 - 04/2010
2	Limb-girdle muscular dystrophy type 2A 04/2007 - 05/2003
2	Central Core Myopathy (Central Core Disease) 06/2006 - 06/2006
2	Malignant Hyperthermia 06/2006 - 06/2006
1	Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy) 05/2022
1	Drug-Related Side Effects and Adverse Reactions 08/2021
1	Malnutrition (Nutritional Deficiencies) 08/2021
1	Myotonic Dystrophy (Dystrophia Myotonica) 10/2017
1	Fibrosis (Cirrhosis) 10/2017
1	Leukoencephalopathies 10/2017
1	Rhabdomyolysis 01/2017
1	Glycogen Storage Disease Type IIb 12/2016
1	Polymyositis 01/2016
1	Premature Aging 01/2016
1	Osteitis Deformans (Paget's Disease of Bone) 01/2016
1	Frontotemporal Dementia (Semantic Dementia) 01/2016
1	Wounds and Injuries (Trauma) 10/2015
1	Hereditary Myopathy with Early Respiratory Failure 05/2015
1	Hypocalcemia 02/2015
1	Nemaline Myopathies (Nemaline Myopathy) 11/2014

Drug/Important Bio-Agent (IBA)

17	Proteins (Proteins, Gene)FDA Link 05/2022 - 05/2003
8	N-acylmannosamine kinaseIBA 10/2014 - 03/2004
7	DysferlinIBA 01/2020 - 07/2003
7	Dystroglycans (Dystroglycan)IBA 01/2017 - 06/2004
7	Racemases and Epimerases (Epimerases and Racemases)IBA 10/2014 - 03/2004
7	Uridine Diphosphate (UDP)IBA 10/2014 - 03/2004
7	Creatine Kinase (Creatine Phosphokinase)IBA 09/2014 - 04/2003
6	N-Acetylneuraminic Acid (Sialic Acid)IBA 10/2014 - 03/2004
6	EnzymesIBA 01/2012 - 03/2004
5	Signal Recognition ParticleIBA 06/2016 - 08/2011
5	AntibodiesIBA 06/2016 - 06/2012
4	Lamin Type A (Lamin A)IBA 01/2019 - 02/2002
4	LaminsIBA 01/2016 - 01/2009
4	AcetylglucosamineIBA 11/2007 - 03/2004
3	emerinIBA 01/2019 - 07/2007
3	Caveolin 3IBA 10/2018 - 12/2004
3	RNA (Ribonucleic Acid)IBA 10/2017 - 12/2002
3	Glucosamine (Dona)IBA 10/2014 - 07/2012
2	Interleukin-6 (Interleukin 6)IBA 10/2017 - 10/2017
2	DystrophinIBA 10/2017 - 01/2010
2	UtrophinIBA 10/2017 - 01/2010
2	Myosin Heavy Chains (Myosin Heavy Chain)IBA 10/2017 - 01/2017
2	DNA (Deoxyribonucleic Acid)IBA 04/2016 - 05/2015
2	N-acetylneuraminoyllactoseIBA 10/2014 - 01/2012
2	AutoantibodiesIBA 09/2014 - 08/2011
2	CaveolinsIBA 05/2013 - 09/2009
2	SugarsIBA 01/2012 - 05/2007
2	Choline KinaseIBA 10/2011 - 06/2011
2	LipidsIBA 03/2009 - 08/2008
2	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 06/2006 - 06/2006
1	MyokinesIBA 10/2017
1	CytokinesIBA 10/2017
1	IronIBA 10/2017
1	Iron-Sulfur ProteinsIBA 10/2017
1	SulfurIBA 10/2017
1	Pharmaceutical PreparationsIBA 01/2017
1	RitanserinIBA 01/2017
1	5-HT3 Serotonin Receptors (5 HT3 Receptor)IBA 01/2017
1	Propranolol (Inderal)FDA LinkGeneric 01/2017
1	2- (4- bromo- 2,5- dimethoxyphenyl)- N- ((2- methoxyphenyl)methyl)ethanamineIBA 01/2017
1	Serotonin ReceptorsIBA 01/2017
1	5-HT2A Serotonin Receptor (5 HT2A Receptor)IBA 01/2017
1	Granisetron (Kytril)FDA LinkGeneric 01/2017
1	Psychotropic Drugs (Psychoactive Drugs)IBA 01/2017
1	Codon (Codons)IBA 12/2016
1	Anti-Idiotypic AntibodiesIBA 06/2016
1	Hepatitis C AntibodiesIBA 01/2016
1	Poly(A)-Binding Protein IIIBA 01/2016
1	Valosin Containing ProteinIBA 01/2016
1	Calcium Release Activated Calcium ChannelsIBA 02/2015
1	Cardiac MyosinsIBA 01/2015
1	Therapeutic UsesIBA 10/2014

Therapy/Procedure

6	Therapeutics 10/2017 - 01/2007
1	Drug Therapy (Chemotherapy) 08/2021
1	Polypharmacy 08/2021
1	Lasers (Laser) 10/2015