Michael E Shy Selected Research

Ataxia (Dyssynergia)

1/2018

Asymmetric Ataxia, Depression, Memory Loss, Epilepsy, and Axonal Neuropathy Associated with A Heterozygous DNA Polymerase Gamma Variant of Uncertain Significance, c1370G>a (R457Q).

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Michael E Shy Research Topics

Disease

26	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 04/2024 - 10/2002
14	Peripheral Nervous System Diseases (PNS Diseases) 01/2023 - 03/2003
5	Demyelinating Diseases (Demyelinating Disease) 12/2023 - 03/2002
2	Mitochondrial Diseases (Mitochondrial Disease) 10/2023 - 10/2013
2	Hereditary Sensory and Autonomic Neuropathies (HSAN) 01/2023 - 05/2017
2	Type 4C Charcot-Marie-Tooth disease 01/2023 - 12/2018
2	Disease Progression 01/2022 - 11/2017
2	Inherited Peripheral Neuropathy 01/2021 - 09/2007
2	Tremor (Tremors) 08/2008 - 07/2007
2	Tomaculous neuropathy 07/2007 - 05/2005
1	Nervous System Diseases (Neurological Disorders) 01/2023
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2023
1	Scoliosis 01/2023
1	Type 2A Charcot-Marie-Tooth disease 10/2020
1	Diabetic Neuropathies (Diabetic Neuropathy) 01/2020
1	Type 4B1 Charcot-Marie-Tooth disease 01/2019
1	3 X-linked recessive Charcot-Marie-Tooth disease 12/2018
1	Type 1D Charcot-Marie-Tooth disease 12/2018
1	Type IIC Hereditary Motor And Sensory Neuropathy 12/2018
1	Cerebellar Ataxia (Dysmetria) 01/2018
1	Carpal Tunnel Syndrome 01/2018
1	Ataxia (Dyssynergia) 01/2018
1	Cytochrome-c Oxidase Deficiency 01/2018
1	Epilepsy (Aura) 01/2018
1	Foot Deformities (Foot Deformity) 01/2018
1	Memory Disorders (Memory Loss) 01/2018
1	Seizures (Absence Seizure) 01/2018
1	Type 1C Charcot-Marie-Tooth disease 12/2017
1	Neuritis (Polyneuritis) 05/2017
1	Congenital Abnormalities (Deformity) 05/2017
1	Type 1E Charcot-Marie-Tooth disease 01/2017
1	Type 1e Demyelinating Charcot-Marie-Tooth Disease 01/2017
1	Rare Diseases (Rare Disease) 01/2017
1	Paraplegia (Spastic Paraplegia) 09/2015
1	Type 2E Charcot-Marie-Tooth disease 07/2015
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 10/2013
1	Atrophy 10/2013
1	Occipital horn syndrome 03/2010
1	Menkes Kinky Hair Syndrome (Menkes Disease) 03/2010
1	Optic Nerve Diseases (Optic Neuropathy) 09/2007
1	Hearing Loss (Hearing Impairment) 09/2007
1	Restless Legs Syndrome (Restless Legs) 01/2007
1	Sleep Apnea Syndromes (Sleep Apnea) 01/2007

Drug/Important Bio-Agent (IBA)

14	Proteins (Proteins, Gene)FDA Link 12/2023 - 03/2002
9	Myelin ProteinsIBA 04/2024 - 03/2002
7	Myelin P0 Protein (Myelin Protein Zero)IBA 07/2022 - 03/2006
5	Biomarkers (Surrogate Marker)IBA 01/2023 - 11/2017
2	Antisense OligonucleotidesIBA 01/2023 - 01/2018
2	EnzymesIBA 01/2020 - 09/2007
2	CopperIBA 01/2018 - 03/2010
2	Ascorbic Acid (Vitamin C)FDA LinkGeneric 08/2013 - 10/2004
2	Voltage-Gated Sodium ChannelsIBA 01/2010 - 12/2006
2	Gap Junction beta-1 ProteinIBA 04/2009 - 10/2002
1	coenzyme Q10 (CoQ10)IBA 10/2023
1	ubiquinone 7IBA 10/2023
1	Serine C-PalmitoyltransferaseIBA 01/2023
1	MicroRNAs (MicroRNA)IBA 01/2021
1	FructoseIBA 01/2020
1	polyolIBA 01/2020
1	Coenzyme A (CoA)IBA 01/2020
1	Sorbitol (Yal)FDA Link 01/2020
1	myotubularinIBA 01/2019
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2019
1	Riboflavin (Vitamin B2)FDA LinkGeneric 12/2018
1	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2018
1	Mitochondrial DNA (mtDNA)IBA 01/2018
1	Histidine-tRNA LigaseIBA 01/2018
1	Copper Transport ProteinsIBA 01/2018
1	DNA Polymerase gammaIBA 01/2018
1	copper-binding proteinIBA 01/2018
1	LipopolysaccharidesIBA 12/2017
1	Membrane Proteins (Integral Membrane Proteins)IBA 12/2017
1	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 12/2017
1	Messenger RNA (mRNA)IBA 11/2017
1	DystoninIBA 05/2017
1	DNA (Deoxyribonucleic Acid)IBA 01/2017
1	Mutant Proteins (Protein, Mutant)IBA 01/2017
1	DystrophinIBA 10/2015
1	dystrophin-related protein 2IBA 10/2015
1	Sodium Channels (Sodium Channel)IBA 07/2015
1	Dyneins (Dynein)IBA 10/2013
1	Phosphatidylcholines (Phosphatidylcholine)IBA 12/2012
1	Sesame Oil (Oil, Sesame)IBA 12/2012
1	CurcuminIBA 12/2012
1	P-type ATPasesIBA 03/2010
1	SaxitoxinIBA 01/2010
1	ConnexinsIBA 04/2009
1	P-2 (P 2)IBA 08/2008
1	Amino Acids FDA Link 09/2007
1	Ribose-Phosphate Pyrophosphokinase (Phosphoribosyl Pyrophosphate Synthetase)IBA 09/2007
1	NucleotidesIBA 09/2007
1	AntimetabolitesIBA 09/2007
1	phosphatidylinositol 3,5-diphosphateIBA 07/2007
1	Lysosomal-Associated Membrane Protein 2IBA 07/2007
1	Dopamine Agents (Dopaminergic Agents)IBA 01/2007

Therapy/Procedure

8	Therapeutics 01/2024 - 10/2004
1	Foot Orthoses 01/2021
1	Orthopedic Procedures 01/2018
1	Surgical Amputation (Amputations) 05/2017
1	Continuous Positive Airway Pressure 01/2007