Arnold Munnich Selected Research

MELAS Syndrome (Syndrome, MELAS)

5/2013	Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.
4/2011	Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.

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Arnold Munnich Research Topics

Disease

19	Intellectual Disability (Idiocy) 01/2020 - 07/2002
12	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 09/2002
10	Friedreich Ataxia (Friedreich's Ataxia) 01/2021 - 04/2002
9	Microcephaly 05/2015 - 04/2007
7	Brain Diseases (Brain Disorder) 01/2023 - 03/2006
7	Ciliopathies 10/2020 - 07/2010
6	Lactic Acidosis 12/2018 - 04/2007
6	Achondroplasia 01/2016 - 06/2007
6	Inborn Genetic Diseases (Disease, Hereditary) 04/2011 - 01/2002
5	Epilepsy (Aura) 01/2023 - 02/2005
5	Leigh Disease (Leigh's Disease) 01/2021 - 05/2003
5	Incontinentia Pigmenti (Bloch Sulzberger Syndrome) 12/2017 - 10/2002
5	Liver Diseases (Liver Disease) 02/2013 - 10/2003
4	Cardiomyopathies (Cardiomyopathy) 11/2021 - 07/2007
4	Iron Overload 01/2021 - 07/2007
4	Neurodevelopmental Disorders 01/2021 - 05/2015
4	Deafness (Deaf Mutism) 12/2018 - 09/2011
4	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2018 - 10/2004
4	Ataxia (Dyssynergia) 03/2017 - 12/2008
4	Muscle Hypotonia (Hypotonia) 05/2016 - 06/2003
4	Dwarfism 01/2016 - 11/2010
4	Myotonic Dystrophy (Dystrophia Myotonica) 03/2013 - 01/2012
4	Hyperlipoproteinemia Type II (Familial Hypercholesterolemia) 11/2010 - 04/2009
4	Ectodermal Dysplasia (Aplasia Cutis Congenita) 05/2008 - 10/2002
4	hypohidrotic Ectodermal dysplasia with immune deficiency 05/2008 - 06/2002
3	Autistic Disorder (Autism) 01/2022 - 07/2008
3	Hypoventilation 01/2020 - 04/2008
3	Brachydactyly 11/2018 - 11/2004
3	Atrophy 01/2018 - 04/2014
3	Psychotic Disorders (Schizoaffective Disorder) 03/2017 - 01/2012
3	Retinitis Pigmentosa (Pigmentary Retinopathy) 03/2017 - 02/2005
3	Optic Nerve Diseases (Optic Neuropathy) 01/2017 - 04/2009
3	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 04/2010 - 05/2002
3	Chronic Disease (Chronic Diseases) 03/2010 - 02/2008
3	Anemia 03/2010 - 02/2008
3	Thanatophoric Dysplasia (Dwarfism, Thanatophoric) 06/2009 - 06/2007
3	Leber Congenital Amaurosis 12/2007 - 10/2004
3	Osteopetrosis 03/2005 - 10/2002
2	Alternating hemiplegia of childhood 03/2023 - 10/2022
2	Congenital Abnormalities (Deformity) 01/2023 - 01/2018
2	Pontocerebellar Hypoplasia 01/2023 - 11/2020
2	Progeria (Hutchinson Gilford Syndrome) 01/2023 - 06/2003
2	Paraplegia (Spastic Paraplegia) 01/2021 - 06/2011
2	Infections 01/2020 - 04/2005
2	Acrodysostosis 11/2018 - 04/2012
2	Hypoglycemia (Reactive Hypoglycemia) 01/2018 - 01/2006
2	Dystonia (Limb Dystonia) 01/2018 - 01/2007
2	Cardiomegaly (Heart Hypertrophy) 01/2016 - 04/2002
2	Obesity 05/2015 - 01/2014
2	Language Development Disorders (Semantic-Pragmatic Disorder) 05/2015 - 07/2008
2	Agenesis of Cerebellar Vermis 05/2015 - 01/2014
2	Disease Progression 10/2014 - 01/2013
2	Seizures (Absence Seizure) 04/2014 - 01/2012
2	Polydactyly (Polydactylism) 01/2014 - 02/2013
2	VLCAD deficiency 12/2013 - 12/2009
2	Rhabdomyolysis 12/2013 - 11/2012
2	MELAS Syndrome (Syndrome, MELAS) 05/2013 - 04/2011
2	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 05/2013 - 04/2011

Drug/Important Bio-Agent (IBA)

26	Proteins (Proteins, Gene)FDA Link 03/2023 - 05/2002
15	Mitochondrial DNA (mtDNA)IBA 01/2023 - 08/2006
8	EnzymesIBA 01/2021 - 08/2003
8	Prostaglandins DIBA 05/2014 - 01/2002
7	IronIBA 01/2021 - 07/2007
7	NF-kappa B (NF-kB)IBA 02/2014 - 06/2002
7	Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA 12/2012 - 07/2006
6	DeferiproneIBA 10/2014 - 07/2007
4	FrataxinIBA 01/2021 - 12/2008
4	Chelating AgentsIBA 11/2020 - 07/2007
4	Nonsense Codon (Nonsense Mutation)IBA 01/2018 - 05/2003
4	LDL CholesterolIBA 11/2010 - 04/2009
3	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2023 - 04/2009
3	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2018 - 12/2013
3	Retinaldehyde (Retinal)IBA 05/2015 - 02/2005
3	RNA (Ribonucleic Acid)IBA 05/2014 - 12/2009
3	Carrier Proteins (Binding Protein)IBA 01/2014 - 06/2002
3	MicroRNAs (MicroRNA)IBA 01/2013 - 04/2008
3	Codon (Codons)IBA 12/2011 - 06/2002
3	LDL Lipoproteins (beta Lipoproteins)IBA 11/2010 - 04/2009
3	ApolipoproteinsIBA 11/2010 - 04/2009
3	LigandsIBA 07/2009 - 10/2003
3	Alanine (L-Alanine)FDA Link 02/2009 - 04/2008
3	Electron Transport Complex I (NADH-CoQ Reductase)IBA 04/2007 - 01/2003
3	neurotrypsinIBA 08/2006 - 11/2002
2	Protein Isoforms (Isoforms)IBA 01/2023 - 12/2018
2	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 01/2023 - 04/2014
2	DNA (Deoxyribonucleic Acid)IBA 01/2023 - 12/2016
2	Interferon Type IIBA 01/2022 - 02/2014
2	Transferrin Receptors (Transferrin Receptor)IBA 01/2021 - 01/2018
2	ChromatinIBA 01/2020 - 01/2013
2	InterferonsIBA 01/2020 - 03/2006
2	Peptides (Polypeptides)IBA 01/2019 - 05/2008
2	Hormones (Hormone)IBA 11/2018 - 04/2012
2	Ribosomal Proteins (Ribosomal Protein)IBA 01/2018 - 11/2011
2	Phosphotransferases (Kinase)IBA 12/2017 - 05/2008
2	Clozapine (Clozaril)FDA LinkGeneric 03/2017 - 03/2017
2	Alkaline PhosphataseIBA 01/2016 - 07/2010
2	GTP Phosphohydrolases (GTPases)IBA 05/2015 - 01/2007
2	Adaptor Protein Complex 4IBA 05/2015 - 06/2011
2	CytokinesIBA 12/2013 - 08/2011

Therapy/Procedure

5	Therapeutics 05/2014 - 05/2002