Jean-Louis Mandel Selected Research

Congenital Structural Myopathies (Centronuclear Myopathy)

12/2014	Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
8/2013	Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
6/2013	Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
6/2012	Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
5/2011	Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.
2/2011	Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
11/2009	T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
7/2008	AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
12/2007	[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy].
12/2007	Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

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Jean-Louis Mandel Research Topics

Disease

17	Congenital Structural Myopathies (Centronuclear Myopathy) 12/2014 - 02/2002
9	Intellectual Disability (Idiocy) 01/2019 - 02/2003
6	Fragile X Syndrome (Martin Bell Syndrome) 01/2022 - 06/2002
6	Neurodegenerative Diseases (Neurodegenerative Disease) 08/2007 - 12/2002
5	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 03/2006 - 12/2002
3	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl) 01/2021 - 01/2007
3	Neurodevelopmental Disorders 01/2020 - 01/2018
3	Ataxia (Dyssynergia) 01/2020 - 03/2008
3	Muscular Diseases (Myopathy) 08/2013 - 11/2006
3	Huntington Disease (Huntington's Disease) 03/2006 - 12/2002
2	Neoplasms (Cancer) 01/2021 - 02/2011
2	Autism Spectrum Disorder 11/2019 - 01/2018
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 11/2009 - 09/2002
1	Breast Neoplasms (Breast Cancer) 01/2021
1	Seizures (Absence Seizure) 01/2020
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2020
1	Opsoclonus-Myoclonus Syndrome (Kinsbourne Syndrome) 01/2020
1	Microcephaly 01/2020
1	Movement Disorders (Movement Disorder) 10/2018
1	Neuroblastoma 01/2018
1	Lissencephaly 10/2017
1	Primrose syndrome 01/2016
1	Down Syndrome Critical Region 11/2015
1	Down Syndrome (Down's Syndrome) 11/2015
1	Autistic Disorder (Autism) 11/2015
1	Tonic-Clonic Epilepsy (Epilepsy, Tonic Clonic) 02/2014
1	Muscle Hypotonia (Hypotonia) 06/2013
1	Retinal Hemorrhage 06/2013
1	Contracture 06/2013
1	Muscle Weakness 05/2011
1	Dystonia (Limb Dystonia) 01/2011
1	Epilepsy (Aura) 01/2011
1	Inborn Genetic Diseases (Disease, Hereditary) 02/2010
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 04/2009
1	Parkinsonian Disorders (Parkinsonism) 01/2009
1	Tremor (Tremors) 01/2009
1	Coenzyme Q10 Deficiency 03/2008
1	Cerebellar Ataxia (Dysmetria) 03/2008
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 12/2007
1	Type 2B Charcot-Marie-Tooth disease 12/2007
1	Cicatrix (Scar) 10/2004
1	Disease Progression 02/2004
1	Shock 02/2004
1	Retinal Degeneration 12/2002
1	Myotonic Dystrophy (Dystrophia Myotonica) 09/2002

Drug/Important Bio-Agent (IBA)

12	Proteins (Proteins, Gene)FDA Link 01/2020 - 02/2004
10	myotubularinIBA 08/2013 - 02/2002
7	Dynamin IIIBA 12/2014 - 11/2006
6	polyglutamineIBA 08/2007 - 12/2002
4	amphiphysinIBA 12/2014 - 09/2007
3	Fragile X Mental Retardation ProteinIBA 01/2016 - 09/2003
3	Phosphoinositide PhosphatasesIBA 08/2013 - 09/2007
3	Phosphoric Monoester Hydrolases (Phosphatases)IBA 11/2006 - 08/2002
3	phosphatidylinositol 3-phosphateIBA 11/2006 - 08/2002
3	RNA-Binding Proteins (RNA-Binding Protein)IBA 03/2005 - 06/2002
2	GTP Phosphohydrolases (GTPases)IBA 06/2012 - 12/2007
2	phosphatidylinositol 3,5-diphosphateIBA 11/2006 - 02/2004
1	Diacylglycerol KinaseIBA 01/2022
1	Retroelements (Retrotransposon)IBA 01/2021
1	Poly(ADP-ribose) Polymerase InhibitorsIBA 01/2021
1	poly(n-octyl methacrylate)IBA 01/2020
1	asparaginyl-tRNA synthetaseIBA 01/2020
1	Neuro-Oncological Ventral AntigenIBA 01/2020
1	RNA Splicing FactorsIBA 01/2020
1	Cell Adhesion MoleculesIBA 11/2019
1	RNA (Ribonucleic Acid)IBA 01/2019
1	RNA Helicases (RNA Helicase)IBA 01/2019
1	DNA (Deoxyribonucleic Acid)IBA 10/2018
1	SolutionsIBA 10/2018
1	AndrogensIBA 01/2018
1	Androgen Receptors (Androgen Receptor)IBA 01/2018
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 01/2017
1	Dyrk KinasesIBA 11/2015
1	A 19IBA 02/2014
1	Proteasome Endopeptidase Complex (Proteasome)IBA 08/2013
1	UbiquitinIBA 08/2013
1	Protein Isoforms (Isoforms)IBA 02/2011
1	polyalanineIBA 01/2011
1	Levodopa (L Dopa)FDA LinkGeneric 01/2009
1	coenzyme Q10 (CoQ10)IBA 03/2008
1	Lactic Acid (Lactate)FDA LinkGeneric 03/2008
1	UbiquinoneIBA 03/2008
1	Phosphotransferases (Kinase)IBA 03/2008
1	ChaperoninsIBA 01/2007
1	Drosophila ProteinsIBA 10/2004
1	Ataxin-7IBA 06/2004
1	LipidsIBA 02/2004
1	Phosphatidylinositols (Phosphatidylinositol)IBA 02/2004
1	5' Untranslated Regions (5' UTR)IBA 02/2003
1	Messenger RNA (mRNA)IBA 09/2002

Therapy/Procedure

1	Therapeutics 01/2021