Marc Bartoli Selected Research

Lethal congenital contracture syndrome 1

1/2020

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.

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Marc Bartoli Research Topics

Disease

7	Muscular Dystrophies (Muscular Dystrophy) 01/2021 - 10/2005
6	Limb-girdle muscular dystrophy type 2A 05/2008 - 12/2003
5	type 2B Limb-girdle muscular dystrophy 04/2019 - 02/2010
5	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 12/2014 - 01/2007
4	Dysferlinopathy 01/2021 - 09/2010
4	Miyoshi myopathy 04/2019 - 02/2010
4	Muscular Diseases (Myopathy) 12/2017 - 05/2008
4	Sarcoglycanopathies 02/2012 - 01/2007
2	Neoplasms (Cancer) 01/2019 - 11/2015
2	Inborn Genetic Diseases (Disease, Hereditary) 03/2016 - 05/2008
2	Muscular Atrophy (Muscle Atrophy) 10/2010 - 10/2005
2	Atrophy 02/2009 - 10/2005
1	Chronic Renal Insufficiency 01/2022
1	Fatty Acid Hydroxylase-Associated Neurodegeneration 01/2022
1	Lethal congenital contracture syndrome 1 01/2020
1	Arthrogryposis 01/2020
1	Motor Neuron Disease (Primary Lateral Sclerosis) 01/2020
1	Distal Myopathy with Anterior Tibial Onset 04/2019
1	Fatigue 01/2019
1	Insulin Resistance 01/2019
1	Obesity 01/2019
1	Vaccinia 01/2019
1	Wounds and Injuries (Trauma) 01/2018
1	Neurodevelopmental Disorders 03/2017
1	Apnea 03/2017
1	Rett Syndrome (Rett's Disorder) 03/2017
1	Neuromuscular Diseases (Neuromuscular Disease) 12/2015
1	Pancreatic Diseases (Pancreatic Disease) 11/2015
1	Progeria (Hutchinson Gilford Syndrome) 08/2015
1	Premature Aging 08/2015
1	Laminopathies 08/2015
1	Distal Myopathies (Distal Muscular Dystrophy) 12/2014
1	Deafness (Deaf Mutism) 06/2013
1	type 2C Limb-girdle muscular dystrophy 02/2013
1	Type 2G Limb-Girdle Muscular Dystrophy 02/2013
1	Congenital Structural Myopathies (Centronuclear Myopathy) 02/2013
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 02/2010
1	Ischemia 12/2006
1	Necrosis 10/2005
1	Autolysis 12/2003

Drug/Important Bio-Agent (IBA)

12	Proteins (Proteins, Gene)FDA Link 01/2021 - 10/2005
10	DysferlinIBA 01/2021 - 02/2009
8	CalpainIBA 10/2010 - 12/2003
6	Sarcoglycans (beta Sarcoglycan)IBA 02/2013 - 01/2007
4	CalciumIBA 01/2019 - 02/2006
3	DNA (Deoxyribonucleic Acid)IBA 12/2015 - 05/2008
3	Peptide Hydrolases (Proteases)FDA Link 10/2010 - 12/2003
3	DystrophinIBA 02/2009 - 01/2007
2	RNA (Ribonucleic Acid)IBA 01/2020 - 01/2018
2	Cysteine Proteases (Cysteine Protease)IBA 05/2008 - 02/2006
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2022
1	activin AIBA 01/2022
1	MyostatinIBA 01/2022
1	Phosphotransferases (Kinase)IBA 01/2019
1	Nuclear Proteins (Protein, Nuclear)IBA 01/2019
1	Antisense OligonucleotidesIBA 01/2018
1	GlycogenIBA 12/2017
1	Codon (Codons)IBA 03/2017
1	Tyrosine 3-Monooxygenase (Tyrosine Hydroxylase)IBA 03/2017
1	Methyl-CpG-Binding Protein 2IBA 03/2017
1	Protons (Proton)IBA 03/2016
1	bile salt-stimulated lipaseIBA 11/2015
1	Protein Isoforms (Isoforms)IBA 08/2015
1	LaminsIBA 08/2015
1	prelamin AIBA 08/2015
1	Racemases and Epimerases (Epimerases and Racemases)IBA 06/2015
1	EnzymesIBA 06/2015
1	Uridine Diphosphate (UDP)IBA 06/2015
1	AcetylglucosamineIBA 06/2015
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 06/2015
1	N-acylmannosamine kinaseIBA 06/2015
1	Retinaldehyde (Retinal)IBA 06/2013
1	ProteomeIBA 02/2013
1	Messenger RNA (mRNA)IBA 02/2009
1	UbiquitinIBA 02/2009
1	Transcription Factors (Transcription Factor)IBA 02/2009
1	Proteasome Endopeptidase Complex (Proteasome)IBA 02/2009
1	Forkhead Box Protein O1IBA 02/2009
1	ELAV-Like Protein 2IBA 02/2009
1	NF-kappa B (NF-kB)IBA 05/2008
1	Biological ProductsIBA 05/2008
1	CASP8 and FADD-Like Apoptosis Regulating Protein (FLIP-S)IBA 05/2008
1	NF-KappaB Inhibitor alphaIBA 05/2008
1	CytokinesIBA 05/2008
1	CaspasesIBA 12/2003

Therapy/Procedure

2	Therapeutics 02/2010 - 01/2007
2	Denervation 02/2009 - 12/2006
2	Intra-Arterial Injections 01/2007 - 01/2007