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Emmanuel Fournier Selected Research

Synaptotagmin II

12/2020New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.

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Emmanuel Fournier Research Topics

Disease

8Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
10/2022 - 12/2004
6Paralysis (Palsy)
02/2014 - 11/2004
5Myotonia
11/2021 - 11/2004
4Channelopathies
02/2014 - 11/2007
3Disease Progression
01/2018 - 08/2013
2Myotonic Disorders (Paramyotonia Congenita)
11/2021 - 04/2010
2Hypokalemic Periodic Paralysis (Periodic Paralysis, Hypokalemic)
11/2018 - 04/2010
2Guillain-Barre Syndrome
04/2016 - 04/2016
2Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
04/2015 - 08/2013
2Neoplasms (Cancer)
01/2015 - 06/2009
2Muscle Weakness
09/2014 - 02/2011
1Thrombocytopenia (Thrombopenia)
12/2022
1Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
01/2022
1Myotonia Congenita (Thomsen Disease)
11/2021
1Nondystrophic myotonia
11/2021
1Cough
01/2021
1Spinal Muscular Atrophy (Progressive Muscular Atrophy)
01/2021
1Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)
01/2020
1Hyperkalemic Periodic Paralysis
11/2018
1Foot Deformities (Foot Deformity)
01/2017
1Zika Virus Infection
04/2016
1Rare Diseases (Rare Disease)
11/2015
1Sleep Initiation and Maintenance Disorders (Insomnia)
10/2015
1Cognitive Dysfunction
10/2015
1Sleepiness
10/2015
1Neuromuscular Junction Diseases
09/2014
1Distal Myopathies (Distal Muscular Dystrophy)
09/2014
1Atrophy
09/2014
1Epilepsy (Aura)
02/2014
1Episodic Ataxia
02/2014
1Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
12/2013
1Mitochondrial encephalopathy
11/2013
1Lactic Acidosis
11/2013
1MELAS Syndrome (Syndrome, MELAS)
11/2013
1Stroke (Strokes)
11/2013
1Movement Disorders (Movement Disorder)
09/2013
1Tremor (Tremors)
09/2013
1Coma (Comas)
02/2011
1Peripheral Nervous System Diseases (PNS Diseases)
02/2011
1Anaplastic Large-Cell Lymphoma (Ki 1 Lymphoma)
06/2009
1Rhabdomyosarcoma
06/2009
1Neuroblastoma
06/2009
1Lung Neoplasms (Lung Cancer)
06/2009
1Glioblastoma (Glioblastoma Multiforme)
06/2009
1B-Cell Lymphoma (Lymphoma, B Cell)
06/2009
1Ischemia
07/2008
1Tangier Disease
07/2008
1Cardiac Arrhythmias (Arrythmia)
04/2007

Drug/Important Bio-Agent (IBA)

5Proteins (Proteins, Gene)FDA Link
01/2022 - 05/2007
3AgrinIBA
10/2022 - 08/2009
3Calcium Channels (Calcium Channel)IBA
11/2018 - 11/2004
3Sodium Channels (Sodium Channel)IBA
02/2014 - 09/2006
3ChloridesIBA
11/2007 - 11/2004
2Amantadine (Aman)FDA LinkGeneric
04/2016 - 04/2016
2Proteoglycans (Proteoglycan)IBA
09/2014 - 12/2013
2Ion Channels (Ion Channel)IBA
02/2014 - 09/2006
2SodiumIBA
11/2007 - 11/2004
2muskIBA
01/2005 - 12/2004
1LaminsIBA
01/2022
1Mexiletine (Mexitil)FDA LinkGeneric
11/2021
1Synaptotagmin IIIBA
12/2020
1Adrenal Cortex Hormones (Corticosteroids)IBA
01/2020
1Intravenous Immunoglobulins (IVIG)FDA Link
01/2020
1Voltage-Gated Sodium ChannelsIBA
11/2018
1Biomarkers (Surrogate Marker)IBA
01/2018
1EnzymesIBA
08/2017
1Creatine Kinase (Creatine Phosphokinase)IBA
01/2017
1GlycolipidsIBA
04/2016
1Immunoglobulin G (IgG)IBA
04/2016
1Immunoglobulin M (IgM)IBA
04/2016
1AntibodiesIBA
04/2016
1Insulin (Novolin)FDA Link
11/2015
1Potassium Channels (Potassium Channel)IBA
11/2015
1N-(4-aminophenethyl)spiroperidol (NAPS)IBA
10/2015
1sulfoxideIBA
01/2015
1Griseofulvin (Grifulvin V)FDA LinkGeneric
01/2015
1SulfonesIBA
01/2015
1Calcium Chloride (Calcium Chloride, Anhydrous)FDA LinkGeneric
02/2014
1PotassiumIBA
02/2014
1perlecanIBA
12/2013
1Acetazolamide (Diamox)FDA LinkGeneric
11/2013
1Mitochondrial DNA (mtDNA)IBA
11/2013
1Therapeutic UsesIBA
09/2013
1Superoxide DismutaseIBA
08/2013
1Histone Deacetylases (Histone Deacetylase)IBA
08/2013
1Cholinergic Agents (Cholinergics)IBA
02/2011
1Chlorpyrifos (Lorsban)IBA
02/2011
1F 91874IBA
06/2009
1Anaplastic Lymphoma KinaseIBA
06/2009
1LipidsIBA
07/2008
1Immunoglobulins (Immunoglobulin)IBA
07/2008
1CarbohydratesIBA
04/2007

Therapy/Procedure

2Therapeutics
11/2015 - 06/2009
2Denervation
04/2015 - 02/2011
1Activities of Daily Living (ADL)
12/2022
1Wearable Electronic Devices
01/2021
1Critical Care (Surgical Intensive Care)
04/2016
1Injections
11/2015
1Transcranial Magnetic Stimulation
09/2013