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Pascale Guicheney Selected Research

merosin negative Muscular dystrophy congenital

10/2005Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
2/2002Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).

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Pascale Guicheney Research Topics

Disease

18Congenital Structural Myopathies (Centronuclear Myopathy)
01/2019 - 11/2005
17Muscular Diseases (Myopathy)
12/2017 - 10/2002
13Muscular Dystrophies (Muscular Dystrophy)
12/2010 - 10/2002
8Brugada Syndrome
05/2022 - 05/2004
7Cardiac Arrhythmias (Arrythmia)
01/2021 - 05/2004
5Long QT Syndrome
02/2012 - 09/2003
5Walker-Warburg Syndrome
01/2010 - 04/2006
4Torsades de Pointes (Torsade de Pointes)
01/2021 - 02/2012
3Cardiovascular Diseases (Cardiovascular Disease)
03/2022 - 05/2009
3Polymorphic catecholergic ventricular tachycardia
06/2012 - 10/2002
3Scleroatonic muscular dystrophy
10/2010 - 09/2005
3Syncope (Fainting)
05/2009 - 10/2002
3Minicore Myopathy with External Ophthalmoplegia
05/2004 - 06/2002
2Disease Susceptibility (Diathesis)
05/2022 - 01/2022
2Atrophy
01/2017 - 12/2010
2Muscle Weakness
11/2016 - 10/2012
2Muscular Atrophy (Muscle Atrophy)
11/2016 - 10/2012
2Ventricular Tachycardia
01/2013 - 08/2005
2Cardiac Sudden Death (Sudden Cardiac Arrest)
05/2009 - 08/2005
2merosin negative Muscular dystrophy congenital
10/2005 - 02/2002
1Heart Diseases (Heart Disease)
03/2022
1Channelopathies
07/2020
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
07/2020
1Abdominal Pain (Pain, Abdominal)
03/2016
1Scoliosis
10/2012
1Respiratory Insufficiency (Respiratory Failure)
10/2012
1Sudden Death
06/2012
1Body Weight (Weight, Body)
06/2012
1Hepatomegaly
06/2012
1Hypoglycemia (Reactive Hypoglycemia)
06/2012
1Drug-Related Side Effects and Adverse Reactions
02/2012
1Chromosome Duplication
04/2011
1Intellectual Disability (Idiocy)
04/2011
1Insulin Resistance
12/2010
1Azoospermia
12/2010
1Bethlem myopathy
10/2010
1Peripheral Nervous System Diseases (PNS Diseases)
04/2010
1Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
04/2010
1Heart Arrest (Cardiac Arrest)
05/2009
1Inborn Genetic Diseases (Disease, Hereditary)
02/2008
1Early-Onset Myopathy with Fatal Cardiomyopathy
04/2007
1Ankyrin-B-Related Cardiac Arrhythmia
01/2007
1Contracture
10/2005
1Muscle Hypotonia (Hypotonia)
10/2005
1Desmin-Related Myofibrillar Myopathy
05/2004
1Bradycardia
03/2004
1Hypertrophy
02/2004

Drug/Important Bio-Agent (IBA)

13Dynamin IIIBA
01/2019 - 11/2005
8Selenoproteins (Selenoprotein)IBA
10/2012 - 10/2002
7Proteins (Proteins, Gene)FDA Link
03/2022 - 11/2005
6Sodium Channels (Sodium Channel)IBA
05/2022 - 12/2003
6Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
01/2021 - 06/2002
5Dynamins (Dynamin)IBA
01/2019 - 06/2006
5Dystroglycans (Dystroglycan)IBA
04/2011 - 05/2006
4Pharmaceutical PreparationsIBA
01/2013 - 07/2004
4Laminin (Merosin)IBA
01/2007 - 02/2002
3Potassium Channels (Potassium Channel)IBA
02/2012 - 09/2003
2ConnectinIBA
03/2022 - 04/2007
2DesminIBA
01/2019 - 05/2004
2ClathrinIBA
01/2019 - 01/2019
2CalciumIBA
11/2016 - 06/2012
2CalsequestrinIBA
06/2012 - 10/2002
2GTP Phosphohydrolases (GTPases)IBA
06/2012 - 10/2009
2DNA (Deoxyribonucleic Acid)IBA
04/2011 - 01/2011
2CollagenIBA
10/2010 - 01/2006
2Creatine Kinase (Creatine Phosphokinase)IBA
04/2010 - 02/2004
2SelenocysteineIBA
03/2009 - 04/2006
2Nonsense Codon (Nonsense Mutation)IBA
02/2008 - 09/2005
2Codon (Codons)IBA
02/2008 - 10/2002
2Messenger RNA (mRNA)IBA
01/2007 - 04/2006
1Adenosine Monophosphate (AMP)IBA
01/2021
1Voltage-Gated Sodium ChannelsIBA
07/2020
1Small Interfering RNA (siRNA)IBA
01/2018
1Ser Transfer RNAIBA
03/2016
1SeleniumIBA
03/2016
1Calmodulin (Calcium-Dependent Activator Protein)IBA
08/2014
1Anti-Arrhythmia AgentsIBA
01/2013
1Amino AcidsFDA Link
11/2012
1triadinIBA
06/2012
1Liver GlycogenIBA
06/2012
1DysferlinIBA
12/2010
1UbiquitinIBA
12/2010
1AntioxidantsIBA
12/2010
1Glutathione Peroxidase GPX1IBA
12/2010
1Extracellular Matrix ProteinsIBA
10/2010
1protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA
01/2010
1Phosphoinositide PhosphatasesIBA
03/2009
1ElementsIBA
03/2009
1myotubularinIBA
03/2009
1Lamin Type A (Lamin A)IBA
01/2009
1protein O-mannosyltransferase (dolichyl-phosphate-mannose - protein mannosyltransferase)IBA
01/2008
1Phosphotransferases (Kinase)IBA
04/2007
1AnkyrinsIBA
01/2007
1laminin alpha 2IBA
04/2006
13' Untranslated Regions (3' UTR)IBA
04/2006
1Glucose (Dextrose)FDA LinkGeneric
03/2006
1Glycine (Aminoacetic Acid)FDA LinkGeneric
09/2005
1hydroquinidine (dihydroquinidine)IBA
05/2004

Therapy/Procedure

3Therapeutics
01/2018 - 03/2004
2Implantable Defibrillators (Implantable Cardioverter-Defibrillator)
05/2009 - 05/2004