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Helen Griffin Selected Research

Neuromuscular Junction Diseases

9/2014Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.
9/2014Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

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Helen Griffin Research Topics

Disease

8Mitochondrial Diseases (Mitochondrial Disease)
12/2020 - 05/2012
6Ataxia (Dyssynergia)
01/2020 - 12/2013
3Hereditary Myopathy with Early Respiratory Failure
04/2014 - 06/2012
2Peripheral Nervous System Diseases (PNS Diseases)
01/2020 - 05/2012
2Spinal Muscular Atrophy (Progressive Muscular Atrophy)
10/2018 - 07/2014
2Tremor (Tremors)
01/2018 - 12/2016
2Cardiomyopathies (Cardiomyopathy)
01/2018 - 01/2015
2Epilepsy (Aura)
01/2018 - 12/2016
2Atrophy
01/2018 - 09/2014
2Dystonia (Limb Dystonia)
12/2016 - 05/2012
2Cerebellar Ataxia (Dysmetria)
12/2016 - 11/2014
2Leigh Disease (Leigh's Disease)
10/2015 - 11/2013
2Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
01/2015 - 05/2014
2Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
09/2014 - 09/2014
2Neuromuscular Junction Diseases
09/2014 - 09/2014
2Spastic ataxia Charlevoix-Saguenay type
05/2014 - 12/2013
1Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome)
10/2022
1Myocardial Ischemia (Ischemic Heart Diseases)
01/2022
1Ischemic Stroke
01/2022
1Cardiovascular Diseases (Cardiovascular Disease)
01/2022
1Hypertension (High Blood Pressure)
01/2022
1Pontocerebellar Hypoplasia
01/2020
1Microcephaly
01/2020
1Seizures (Absence Seizure)
01/2020
1Mitochondrial Myopathies (Mitochondrial Myopathy)
01/2018
1Alzheimer Disease (Alzheimer's Disease)
01/2018
1Autistic Disorder (Autism)
01/2018
1Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
01/2018
1Neoplasms (Cancer)
01/2018
1Megalencephaly
01/2018
1Carcinogenesis
01/2018
1Neurodegenerative Diseases (Neurodegenerative Disease)
02/2017
1Hepatolenticular Degeneration (Wilson's Disease)
12/2016
1Menkes Kinky Hair Syndrome (Menkes Disease)
12/2016
1Occipital horn syndrome
12/2016
1Deafness (Deaf Mutism)
05/2016
1Lactic Acidosis
05/2016
1Muscle Hypotonia (Hypotonia)
05/2016
1Disease Progression
04/2016
1Fatigue
04/2016
1Lethargy
04/2016
1Cytochrome-c Oxidase Deficiency
10/2015
1Leukoencephalopathies
01/2015
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
01/2015
1Lambert-Eaton Myasthenic Syndrome (Lambert-Eaton Syndrome)
09/2014
1Muscle Weakness
09/2014
1Distal Myopathies (Distal Muscular Dystrophy)
09/2014
1Spastic Ataxia
05/2014
1Respiratory Insufficiency (Respiratory Failure)
03/2014
1Myofibrillar Myopathy
03/2014
1Congenital Heart Defects (Congenital Heart Defect)
06/2012

Drug/Important Bio-Agent (IBA)

6Mitochondrial DNA (mtDNA)IBA
01/2022 - 05/2014
6Proteins (Proteins, Gene)FDA Link
01/2022 - 01/2015
4EnzymesIBA
01/2018 - 06/2015
3ConnectinIBA
04/2014 - 06/2012
2DNA (Deoxyribonucleic Acid)IBA
01/2022 - 01/2015
2Amino AcidsFDA Link
12/2020 - 01/2015
2Exosome Multienzyme Ribonuclease ComplexIBA
01/2020 - 01/2018
1STAT2 Transcription FactorIBA
10/2022
1Interferon Type IIBA
10/2022
1Factor IX (Coagulation Factor IX)FDA LinkGeneric
10/2022
1asparaginyl-tRNA synthetaseIBA
01/2020
1Quinolinic AcidIBA
10/2018
1TensinsIBA
01/2018
1Carrier Proteins (Binding Protein)IBA
01/2018
1Electron Transport Complex IV (Cytochrome c Oxidase)IBA
01/2018
1Fatty Acids (Saturated Fatty Acids)IBA
01/2018
1Phosphatidylinositols (Phosphatidylinositol)IBA
01/2018
1Phosphoric Monoester Hydrolases (Phosphatases)IBA
01/2018
1NucleotidesIBA
02/2017
1P-type ATPasesIBA
12/2016
1Copper Transport ProteinsIBA
12/2016
1CopperIBA
12/2016
1Ribonuclease P (RNase P)IBA
05/2016
1MethyltransferasesIBA
05/2016
1Transfer RNA (tRNA)IBA
05/2016
1mitochondrial calcium uniporterIBA
04/2016
1RNA (Ribonucleic Acid)IBA
10/2015
1Mitochondrial Proteins (Mitochondrial Protein)IBA
10/2015
1Ligases (Synthetase)IBA
01/2015
1Alanine-tRNA LigaseIBA
01/2015
1Peptide Hydrolases (Proteases)FDA Link
01/2015
1AnoctaminsIBA
11/2014
1Chloride Channels (Chloride Channel)IBA
11/2014
1coenzyme Q10 (CoQ10)IBA
11/2014
1Coenzymes (Enzyme Cofactors)IBA
11/2014
1Aspartic Acid (Aspartate)FDA Link
09/2014
1CalciumIBA
09/2014
1Synaptotagmin IIIBA
09/2014
1Proteoglycans (Proteoglycan)IBA
09/2014
1AgrinIBA
09/2014
1Messenger RNA (mRNA)IBA
07/2014
1ProteomeIBA
06/2014
1Retinaldehyde (Retinal)IBA
05/2014
1Phosphotransferases (Kinase)IBA
03/2014
1Fibronectins (Fibronectin)IBA
03/2014
1Codon (Codons)IBA
12/2013
1methionyl-tRNA formyltransferaseIBA
11/2013

Therapy/Procedure

1Critical Care (Surgical Intensive Care)
10/2015
1Ligation
05/2014