Diego Martinelli Selected Research

Leukoencephalopathies

3/2016	LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
2/2016	Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.
5/2012	Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

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Diego Martinelli Research Topics

Disease

7	Hyperammonemia 11/2019 - 07/2011
7	Mitochondrial Diseases (Mitochondrial Disease) 01/2019 - 11/2012
6	Intellectual Disability (Idiocy) 11/2019 - 06/2010
5	Lactic Acidosis 01/2018 - 03/2014
4	Ataxia (Dyssynergia) 08/2021 - 05/2013
4	Propionic Acidemia 11/2020 - 09/2014
4	Methylmalonic acidemia 11/2020 - 07/2011
4	Seizures (Absence Seizure) 01/2020 - 09/2012
4	Inborn Urea Cycle Disorders 11/2019 - 05/2012
3	Atrophy 08/2021 - 05/2012
3	Peripheral Nervous System Diseases (PNS Diseases) 08/2021 - 01/2018
3	Disease Progression 01/2021 - 02/2011
3	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2021 - 09/2014
3	Leigh Disease (Leigh's Disease) 01/2021 - 11/2012
3	Brain Diseases (Brain Disorder) 01/2020 - 07/2011
3	Argininosuccinic Aciduria 11/2019 - 07/2012
3	Lysinuric Protein Intolerance 01/2019 - 04/2012
3	Hyperargininemia 01/2019 - 09/2014
3	Cardiomyopathies (Cardiomyopathy) 01/2018 - 05/2013
3	Leukoencephalopathies 03/2016 - 05/2012
3	Ichthyosis (Xeroderma) 09/2014 - 03/2013
2	Muscular Diseases (Myopathy) 10/2021 - 01/2018
2	Friedreich Ataxia (Friedreich's Ataxia) 10/2021 - 01/2020
2	Kearns-Sayre Syndrome 10/2021 - 06/2018
2	Cerebellar Diseases (Cerebellar Syndrome) 08/2021 - 01/2019
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 08/2021 - 10/2020
2	Epilepsy (Aura) 01/2020 - 01/2019
2	Metabolic Diseases (Metabolic Disease) 01/2019 - 12/2011
2	Hereditary Spastic Paraplegia 01/2019 - 01/2019
2	Neurodegenerative Diseases (Neurodegenerative Disease) 09/2018 - 10/2016
2	Nonketotic Hyperglycinemia 01/2018 - 09/2012
2	Mitochondrial encephalopathy 01/2018 - 03/2016
2	Cognitive Dysfunction 09/2014 - 05/2013
2	Deafness (Deaf Mutism) 05/2014 - 03/2013
2	Migraine Disorders (Migraine) 05/2013 - 06/2010
1	Fructose Intolerance (Intolerance, Fructose) 01/2022
1	Hyperinsulinism (Hyperinsulinemia) 12/2021
1	Myotonic Dystrophy (Dystrophia Myotonica) 10/2021
1	Laminopathies 10/2021
1	Autoimmune enteropathy 02/2021
1	Intestinal Failure 02/2021
1	Short Bowel Syndrome 02/2021
1	Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction) 02/2021
1	Erythema 01/2021
1	Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris) 01/2021
1	Hypoglycemia (Reactive Hypoglycemia) 01/2021
1	Ethylmalonic encephalopathy 01/2021
1	Bundle-Branch Block (Fascicular Block) 01/2021
1	Cardiofaciocutaneous syndrome 01/2021
1	Ventricular Tachycardia 01/2021
1	Bites and Stings (Sting) 02/2020
1	Contracture 01/2020

Drug/Important Bio-Agent (IBA)

9	Proteins (Proteins, Gene)FDA Link 01/2021 - 09/2012
5	HHH syndromeIBA 11/2019 - 07/2012
5	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2019 - 02/2011
4	Biomarkers (Surrogate Marker)IBA 11/2020 - 04/2016
4	Anticonvulsants (Antiepileptic Drugs)IBA 01/2020 - 06/2010
4	EnzymesIBA 01/2020 - 02/2011
4	Urea (Carbamide)FDA LinkGeneric 01/2019 - 07/2012
4	Arginine (L-Arginine)FDA Link 03/2015 - 05/2012
3	AcidsIBA 01/2021 - 11/2011
3	alpha-tocotrienol quinoneIBA 01/2019 - 11/2012
3	OrnithineIBA 01/2019 - 05/2012
3	CopperIBA 09/2018 - 03/2013
3	Mitochondrial DNA (mtDNA)IBA 06/2018 - 05/2012
3	CitrullineIBA 03/2015 - 05/2012
2	Amino Acids FDA Link 01/2019 - 04/2012
2	Ligases (Synthetase)IBA 01/2019 - 11/2015
2	Thioctic Acid (Lipoic Acid)IBA 01/2018 - 01/2017
2	Oxidoreductases (Dehydrogenase)IBA 01/2017 - 09/2012
2	glycine cleavage systemIBA 01/2017 - 09/2012
2	Lactic Acid (Lactate)FDA LinkGeneric 02/2016 - 05/2012
2	Riboflavin (Vitamin B2)FDA LinkGeneric 02/2016 - 09/2014
2	AmmoniaIBA 03/2015 - 05/2012
2	Methylmalonyl-CoA MutaseIBA 09/2014 - 07/2011
2	Sodium Benzoate FDA Link 09/2014 - 09/2012
2	Nitric Oxide (Nitrogen Monoxide)FDA Link 03/2014 - 11/2012
1	Mannose (D-Mannose)IBA 01/2022
1	Polysaccharides (Glycans)IBA 01/2022
1	Insulin (Novolin)FDA Link 12/2021
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 10/2021
1	Congenital disorder of glycosylation type 1AIBA 08/2021
1	Mitogen-Activated Protein KinasesIBA 01/2021
1	Valine (L-Valine)FDA Link 01/2021
1	Glucose (Dextrose)FDA LinkGeneric 01/2021
1	Collodion (Nitrocellulose)IBA 01/2021
1	2-methylcitric acidIBA 11/2020
1	FluoridesIBA 02/2020
1	ToothpastesIBA 02/2020
1	SolutionsIBA 02/2020
1	Adenylyl Cyclases (Adenylyl Cyclase)IBA 01/2020
1	Levetiracetam (Keppra)FDA LinkGeneric 01/2020

Therapy/Procedure

10	Therapeutics 01/2020 - 06/2010
1	Activities of Daily Living (ADL) 08/2021
1	Home Parenteral Nutrition 02/2021
1	Parenteral Nutrition 02/2021
1	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 01/2021
1	Kidney Transplantation 01/2021
1	Liver Transplantation 01/2021
1	Transplantation 11/2020