Ichizo Nishino Selected Research

Nemaline Myopathies (Nemaline Myopathy)

10/2021	A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.
12/2020	An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant.
1/2019	RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.
1/2018	Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen.
2/2017	A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.
1/2016	Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy.
11/2014	Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
11/2013	[Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].
4/2012	Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.
10/2007	Distinctive patterns of microRNA expression in primary muscular disorders.

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Ichizo Nishino Research Topics

Disease

95	Muscular Diseases (Myopathy) 08/2022 - 05/2002
32	Muscular Dystrophies (Muscular Dystrophy) 01/2022 - 03/2002
27	Muscle Weakness 08/2022 - 05/2007
26	Myositis (Idiopathic Inflammatory Myopathies) 06/2022 - 05/2007
16	Dermatomyositis (Dermatopolymyositis) 06/2022 - 05/2005
16	Nonaka type Distal myopathy 09/2015 - 03/2004
15	Muscular Atrophy (Muscle Atrophy) 01/2022 - 05/2002
14	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 03/2022 - 03/2003
13	Atrophy 01/2022 - 07/2003
13	Inclusion Body Myositis 02/2021 - 05/2006
12	Distal Myopathies (Distal Muscular Dystrophy) 01/2019 - 12/2004
11	Nemaline Myopathies (Nemaline Myopathy) 10/2021 - 10/2006
10	Respiratory Insufficiency (Respiratory Failure) 06/2022 - 03/2012
10	Myotonic Dystrophy (Dystrophia Myotonica) 10/2017 - 05/2005
9	Congenital Structural Myopathies (Centronuclear Myopathy) 06/2022 - 11/2004
9	Walker-Warburg Syndrome 10/2021 - 03/2002
9	Glycogen Storage Disease Type II (Pompe's Disease) 04/2021 - 07/2008
9	MELAS Syndrome (Syndrome, MELAS) 02/2021 - 04/2009
9	Mitochondrial Diseases (Mitochondrial Disease) 01/2021 - 11/2002
9	Glycogen Storage Disease Type IIb 12/2016 - 01/2003
8	Malignant Hyperthermia 07/2022 - 06/2006
8	Miyoshi myopathy 10/2015 - 06/2003
7	Necrosis 01/2022 - 03/2003
7	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 06/2021 - 05/2003
7	Facioscapulohumeral Muscular Dystrophy 02/2021 - 05/2005
7	Polymyositis 10/2020 - 05/2005
6	Neoplasms (Cancer) 06/2022 - 02/2011
6	Exanthema (Rash) 01/2022 - 01/2017
6	Disease Progression 04/2021 - 06/2012
6	Limb-girdle muscular dystrophy type 2A 02/2015 - 05/2003
5	Deglutition Disorders (Dysphagia) 01/2020 - 03/2005
5	Vacuolar myopathy 10/2019 - 06/2005
5	Dysferlinopathy 10/2015 - 07/2003
4	Myalgia 08/2022 - 06/2003
4	Heart Failure 06/2022 - 11/2011
4	Interstitial Lung Diseases (Interstitial Lung Disease) 04/2021 - 01/2014
4	Scleroatonic muscular dystrophy 01/2021 - 09/2008
4	Brain Diseases (Brain Disorder) 01/2021 - 02/2009
4	Cardiomyopathies (Cardiomyopathy) 11/2019 - 09/2010
4	Inflammation (Inflammations) 01/2019 - 05/2007
4	type 2B Limb-girdle muscular dystrophy 10/2015 - 07/2003
3	Hereditary Myopathy with Early Respiratory Failure 05/2022 - 05/2015
3	Contracture 02/2022 - 01/2019
3	Minicore Myopathy with External Ophthalmoplegia 10/2021 - 06/2006
3	Central Core Myopathy (Central Core Disease) 10/2021 - 06/2006
3	Myasthenia Gravis 08/2021 - 01/2015
3	Stroke (Strokes) 02/2021 - 01/2017
3	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021 - 11/2013
3	Monoclonal Gammopathy of Undetermined Significance 01/2021 - 01/2016

Drug/Important Bio-Agent (IBA)

40	Proteins (Proteins, Gene)FDA Link 04/2022 - 01/2003
26	Creatine Kinase (Creatine Phosphokinase)IBA 08/2022 - 05/2007
22	AutoantibodiesIBA 06/2022 - 06/2004
21	AntibodiesIBA 01/2022 - 06/2012
18	N-Acetylneuraminic Acid (Sialic Acid)IBA 01/2022 - 03/2004
17	EnzymesIBA 01/2022 - 03/2004
15	Dystroglycans (Dystroglycan)IBA 01/2022 - 03/2002
14	Signal Recognition ParticleIBA 08/2022 - 08/2011
12	Mitochondrial DNA (mtDNA)IBA 01/2021 - 11/2002
12	N-acylmannosamine kinaseIBA 01/2019 - 03/2004
10	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 07/2022 - 06/2006
10	Oxidoreductases (Dehydrogenase)IBA 08/2020 - 03/2009
10	Uridine Diphosphate (UDP)IBA 01/2019 - 03/2004
10	Racemases and Epimerases (Epimerases and Racemases)IBA 01/2019 - 03/2004
9	DysferlinIBA 10/2015 - 06/2003
8	Amyloid (Amyloid Fibrils)IBA 01/2021 - 06/2009
7	DNA (Deoxyribonucleic Acid)IBA 12/2018 - 02/2009
6	nuclear matrix protein 2IBA 01/2022 - 01/2020
6	AcidsIBA 04/2021 - 01/2011
6	AcetylglucosamineIBA 01/2019 - 03/2004
6	RNA (Ribonucleic Acid)IBA 01/2019 - 06/2011
6	Messenger RNA (mRNA)IBA 01/2018 - 04/2007
5	Intravenous Immunoglobulins (IVIG)FDA Link 08/2022 - 01/2016
5	Prednisolone (Predate)FDA LinkGeneric 08/2022 - 12/2013
5	Pharmaceutical PreparationsIBA 07/2022 - 05/2002
5	Adrenal Cortex Hormones (Corticosteroids)IBA 04/2021 - 04/2010
5	CollagenIBA 01/2021 - 03/2003
5	3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA)IBA 08/2020 - 01/2015
5	SteroidsIBA 03/2020 - 05/2007
4	nebulinIBA 06/2022 - 10/2006
4	DystrophinIBA 03/2022 - 05/2009
4	UDP acetylglucosamine-2-epimeraseIBA 01/2022 - 11/2009
4	LipidsIBA 01/2022 - 08/2008
4	Complement Membrane Attack Complex (Membrane Attack Complex)IBA 01/2022 - 07/2005
4	Staphylococcal Protein A (Protein A)IBA 01/2022 - 01/2020
4	Dynamin IIIBA 01/2021 - 05/2011
4	Phosphotransferases (Kinase)IBA 06/2019 - 03/2004
4	GlucosidasesIBA 10/2018 - 03/2012
4	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 07/2017 - 01/2015
4	LaminsIBA 01/2016 - 01/2009
4	Protein Isoforms (Isoforms)IBA 03/2015 - 05/2003
4	SugarsIBA 01/2012 - 05/2007
4	CalciumIBA 12/2009 - 06/2006
3	ConnectinIBA 05/2022 - 09/2011
3	Transfer RNA (tRNA)IBA 02/2022 - 04/2009
3	Biomarkers (Surrogate Marker)IBA 01/2022 - 01/2015
3	alpha-Glucosidases (Acid Maltase)IBA 04/2021 - 01/2007
3	Ligases (Synthetase)IBA 02/2021 - 01/2016

Therapy/Procedure

30	Therapeutics 08/2022 - 01/2007
8	Immunotherapy 04/2021 - 11/2013
3	Mechanical Ventilators (Ventilator) 06/2022 - 03/2012