Chang-He Shi Selected Research

Limb-Girdle Myasthenia with Tubular Aggregates

1/2019

Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates.

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Chang-He Shi Research Topics

Disease

7	Parkinson Disease (Parkinson's Disease) 01/2024 - 10/2016
5	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2020 - 02/2014
4	Machado-Joseph Disease (Spinocerebellar Ataxia Type 3) 01/2019 - 02/2015
3	Chronic Hepatitis B 01/2022 - 07/2009
2	Essential Tremor (Essential Tremors) 01/2021 - 01/2018
2	Alzheimer Disease (Alzheimer's Disease) 01/2020 - 08/2019
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2019 - 01/2018
2	Ataxia (Dyssynergia) 02/2015 - 02/2014
1	Migraine Disorders (Migraine) 08/2023
1	Nervous System Diseases (Neurological Disorders) 01/2023
1	Neuronal intranuclear inclusion disease 01/2023
1	Lacunar Stroke 01/2023
1	Cerebral Small Vessel Diseases 12/2022
1	Neuroinflammatory Diseases 01/2022
1	Fibrosis (Cirrhosis) 01/2022
1	Dysbiosis 01/2022
1	Hemorrhagic Stroke 01/2020
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 12/2019
1	Cardiovascular Diseases (Cardiovascular Disease) 07/2019
1	Ischemic Stroke 07/2019
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2019
1	Myasthenia Gravis 01/2019
1	Limb-Girdle Myasthenia with Tubular Aggregates 01/2019
1	Pantothenate Kinase-Associated Neurodegeneration (Hallervorden-Spatz Disease) 12/2018
1	Brain Ischemia (Cerebral Ischemia) 01/2018
1	Liver Failure 05/2017
1	End Stage Liver Disease 05/2017
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2017
1	Niemann-Pick Diseases (Niemann Pick Disease) 01/2017
1	Hypogonadism (Hypergonadotropic Hypogonadism) 02/2014
1	Liver Diseases (Liver Disease) 07/2009
1	Infections 07/2009

Drug/Important Bio-Agent (IBA)

8	Proteins (Proteins, Gene)FDA Link 01/2024 - 02/2014
2	ProteomeIBA 01/2024 - 08/2023
2	Hepatitis B e AntigensIBA 01/2022 - 07/2009
2	Ligases (Synthetase)IBA 01/2018 - 02/2014
2	UbiquitinIBA 01/2018 - 02/2014
1	5' Untranslated Regions (5' UTR)IBA 01/2023
1	isobutyryl-1-carnitineIBA 01/2023
1	NucleotidesIBA 12/2022
1	Adenosine Triphosphatases (ATPase)IBA 12/2022
1	Phospholipids (Phosphatides)FDA LinkGeneric 12/2022
1	bushen jianpiIBA 01/2022
1	entecavir FDA Link 01/2022
1	Anti-Infective Agents (Microbicides)IBA 01/2022
1	Anti-Bacterial Agents (Antibiotics)IBA 01/2022
1	Hepatitis B Surface Antigens (HBsAg)FDA Link 01/2022
1	Neuroprotective AgentsIBA 01/2022
1	SynucleinsIBA 01/2022
1	alpha-SynucleinIBA 01/2021
1	polyglutamineIBA 01/2020
1	Multifunctional EnzymesIBA 12/2019
1	Amyloid (Amyloid Fibrils)IBA 08/2019
1	Presenilin-2IBA 08/2019
1	Presenilin-1IBA 08/2019
1	Dynamin IIIIBA 07/2019
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 07/2019
1	Cytochrome P-450 CYP3AIBA 07/2019
1	AntibodiesIBA 01/2019
1	Biomarkers (Surrogate Marker)IBA 01/2019
1	Cholinesterase Inhibitors (Anticholinesterases)IBA 01/2019
1	pantothenate kinaseIBA 12/2018
1	IronIBA 12/2018
1	Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaIBA 01/2018
1	AnisomycinIBA 01/2018
1	Protein Kinases (Protein Kinase)IBA 01/2018
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 01/2018
1	alpha Catenin (alpha E-Catenin)IBA 01/2018
1	Arginine Vasopressin (Argipressin)IBA 10/2017
1	Glutathione Transferase (Glutathione S-Transferase)IBA 05/2017
1	Prothrombin (Factor II)IBA 05/2017
1	AlbuminsIBA 05/2017
1	BilirubinIBA 05/2017
1	AcidsIBA 01/2017
1	rab GTP-Binding ProteinsIBA 01/2017
1	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 01/2017
1	leucyl-alanineIBA 01/2017
1	Glucose (Dextrose)FDA LinkGeneric 10/2016
1	Nerve Growth Factor (NGF)IBA 02/2015
1	Therapeutic UsesIBA 02/2015
1	DNA (Deoxyribonucleic Acid)IBA 07/2009
1	Antiviral Agents (Antivirals)IBA 07/2009
1	Transaminases (Aminotransferases)IBA 07/2009

Therapy/Procedure

2	Therapeutics 01/2019 - 07/2009
1	Chinese Traditional Medicine (Traditional Chinese Medicine) 01/2022
1	Aftercare (After-Treatment) 02/2015