Giacomo P Comi Selected Research

Spinal muscular atrophy with respiratory distress 1

9/2020	Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).
1/2020	Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.
3/2015	Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model.
8/2014	iPSC-Derived neural stem cells act via kinase inhibition to exert neuroprotective effects in spinal muscular atrophy with respiratory distress type 1.
9/2009	Motoneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1).
1/2006	Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.

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Giacomo P Comi Research Topics

Disease

11	Muscular Diseases (Myopathy) 01/2021 - 03/2002
11	Mitochondrial Diseases (Mitochondrial Disease) 07/2020 - 11/2002
10	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2019 - 11/2004
9	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2018 - 03/2006
7	Neurodegenerative Diseases (Neurodegenerative Disease) 09/2020 - 11/2004
6	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2022 - 06/2004
6	Spinal muscular atrophy with respiratory distress 1 09/2020 - 01/2006
6	Cytochrome-c Oxidase Deficiency 01/2018 - 01/2009
5	Myotonia Congenita (Thomsen Disease) 12/2021 - 07/2012
5	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 11/2012 - 08/2002
5	Muscular Dystrophies (Muscular Dystrophy) 07/2012 - 09/2005
4	Inflammation (Inflammations) 01/2019 - 08/2010
4	Disease Progression 10/2016 - 01/2006
4	Frontotemporal Dementia (Semantic Dementia) 12/2014 - 05/2009
4	Mitochondrial Myopathies (Mitochondrial Myopathy) 11/2012 - 12/2003
3	Glycogen Storage Disease Type II (Pompe's Disease) 02/2020 - 06/2012
3	Neoplasms (Cancer) 12/2019 - 03/2016
3	Ophthalmoplegia (External Ophthalmoplegia) 03/2012 - 05/2010
3	Leigh Disease (Leigh's Disease) 08/2011 - 06/2009
2	Brain Diseases (Brain Disorder) 01/2020 - 01/2007
2	Optic Atrophy 01/2020 - 01/2013
2	Peripheral Nervous System Diseases (PNS Diseases) 01/2020 - 12/2003
2	Muscle Weakness 01/2019 - 07/2012
2	Glycogen Storage Disease Type III (Cori's Disease) 10/2018 - 11/2014
2	Ataxia (Dyssynergia) 01/2018 - 12/2003
2	Rhabdomyolysis 11/2012 - 11/2009
2	Lactic Acidosis 05/2012 - 01/2012
2	Limb-girdle muscular dystrophy type 2A 02/2008 - 02/2007
1	Muscle Hypotonia (Hypotonia) 09/2022
1	Sensorineural Hearing Loss 09/2022
1	Status Epilepticus (Complex Partial Status Epilepticus) 01/2022
1	Hepatic Encephalopathy 01/2022
1	Myotonia 12/2021
1	Myotonic Dystrophy (Dystrophia Myotonica) 12/2021
1	Dystonia (Limb Dystonia) 01/2021
1	Pontocerebellar Hypoplasia 01/2020
1	Achalasia Addisonianism Alacrimia syndrome 12/2019
1	Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) 01/2019
1	Polyneuropathies (Polyneuropathy) 01/2019
1	Tremor (Tremors) 01/2019
1	Cerebellar Ataxia (Dysmetria) 01/2019
1	Optic Nerve Diseases (Optic Neuropathy) 12/2018
1	Hepatomegaly 10/2018
1	Hypoglycemia (Reactive Hypoglycemia) 10/2018

Drug/Important Bio-Agent (IBA)

19	Mitochondrial DNA (mtDNA)IBA 09/2022 - 08/2002
18	Proteins (Proteins, Gene)FDA Link 09/2020 - 10/2002
7	DystrophinIBA 01/2019 - 03/2003
5	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2018 - 01/2009
4	Chloride Channels (Chloride Channel)IBA 12/2021 - 07/2012
3	Nonsense Codon (Nonsense Mutation)IBA 01/2021 - 11/2009
3	GlycogenIBA 02/2020 - 07/2006
3	Carrier Proteins (Binding Protein)IBA 01/2020 - 01/2006
3	Lactic Acid (Lactate)FDA LinkGeneric 05/2012 - 07/2011
2	Mexiletine (Mexitil)FDA LinkGeneric 12/2021 - 06/2017
2	Messenger RNA (mRNA)IBA 09/2020 - 03/2016
2	Amyloid (Amyloid Fibrils)IBA 07/2020 - 02/2011
2	alpha-SynucleinIBA 07/2020 - 01/2018
2	EnzymesIBA 02/2020 - 01/2014
2	AcidsIBA 02/2020 - 01/2014
2	Immunoglobulins (Immunoglobulin)IBA 01/2020 - 01/2006
2	RNA (Ribonucleic Acid)IBA 12/2019 - 12/2014
2	MorpholinosIBA 01/2018 - 03/2014
2	Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)IBA 03/2016 - 11/2014
2	Dynamins (Dynamin)IBA 01/2013 - 04/2012
2	GTP Phosphohydrolases (GTPases)IBA 01/2013 - 04/2012
2	Pharmaceutical PreparationsIBA 05/2012 - 10/2002
2	Valosin Containing ProteinIBA 03/2012 - 05/2009
2	Anti-Bacterial Agents (Antibiotics)IBA 10/2011 - 06/2011
2	beta-LactamsIBA 10/2011 - 06/2011
2	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 10/2011 - 03/2005
2	Creatine Kinase (Creatine Phosphokinase)IBA 11/2009 - 03/2002
2	DysferlinIBA 02/2008 - 09/2005
1	Ribonucleotide Reductases (Ribonucleotide Reductase)IBA 09/2022
1	Antiviral Agents (Antivirals)IBA 01/2022
1	Biomarkers (Surrogate Marker)IBA 01/2022
1	Lactulose (Duphalac)FDA LinkGeneric 01/2022
1	Diazepam (Valium)FDA LinkGeneric 01/2022
1	Rifaximin (L 105)FDA Link 01/2022
1	Levetiracetam (Keppra)FDA LinkGeneric 01/2022
1	entecavir FDA Link 01/2022
1	N-desmethylstobadineIBA 12/2021
1	Protein Kinases (Protein Kinase)IBA 12/2021
1	Biological ProductsIBA 01/2021
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2021
1	alpha-Glucosidases (Acid Maltase)IBA 02/2020
1	Myosins (Myosin)IBA 01/2020
1	Myosin Heavy Chains (Myosin Heavy Chain)IBA 01/2020
1	Enoyl-CoA HydrataseIBA 01/2020
1	Nuclear Pore Complex Proteins (Nucleoporins)IBA 12/2019
1	ElementsIBA 04/2019
1	AutoantibodiesIBA 01/2019
1	MicroRNAs (MicroRNA)IBA 01/2019
1	coenzyme Q10 (CoQ10)IBA 12/2018
1	Glucose (Dextrose)FDA LinkGeneric 10/2018
1	polyglutamineIBA 01/2018
1	Ataxin-1IBA 01/2018

Therapy/Procedure

10	Therapeutics 01/2022 - 11/2004
6	Transplantation 08/2014 - 10/2008
2	Critical Care (Surgical Intensive Care) 01/2014 - 01/2012
1	High-Protein Diet 10/2018