Enrico Bertini Selected Research

Thyroid Hormones

1/2022	Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
1/2022	Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.

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Enrico Bertini Research Topics

Disease

20	Ataxia (Dyssynergia) 11/2023 - 10/2003
20	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 11/2023 - 08/2003
20	Mitochondrial Diseases (Mitochondrial Disease) 10/2023 - 03/2006
15	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 04/2024 - 06/2003
14	Muscular Diseases (Myopathy) 01/2024 - 09/2006
14	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2023 - 07/2006
12	Disease Progression 08/2022 - 05/2011
11	Muscular Dystrophies (Muscular Dystrophy) 04/2024 - 06/2003
11	Seizures (Absence Seizure) 10/2023 - 09/2011
10	Scleroatonic muscular dystrophy 03/2024 - 01/2002
10	Leukoencephalopathies 01/2023 - 07/2004
10	Inborn Genetic Diseases (Disease, Hereditary) 10/2022 - 03/2004
10	Intellectual Disability (Idiocy) 01/2020 - 11/2011
8	Muscle Weakness 03/2024 - 08/2007
8	Deafness (Deaf Mutism) 11/2021 - 03/2007
8	Friedreich Ataxia (Friedreich's Ataxia) 02/2020 - 10/2003
8	Lactic Acidosis 01/2018 - 08/2006
7	Cardiomyopathies (Cardiomyopathy) 01/2024 - 06/2012
6	Muscle Hypotonia (Hypotonia) 01/2024 - 08/2006
6	Cerebellar Ataxia (Dysmetria) 02/2021 - 09/2012
5	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 03/2024 - 11/2011
5	Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease) 01/2023 - 07/2008
5	Congenital Structural Myopathies (Centronuclear Myopathy) 09/2022 - 06/2012
5	Hereditary Spastic Paraplegia 01/2020 - 03/2006
5	Brain Diseases (Brain Disorder) 01/2019 - 05/2012
5	Megalencephalic leukoencephalopathy with subcortical cysts 04/2016 - 05/2012
5	Bethlem myopathy 04/2016 - 01/2002
4	Nemaline Myopathies (Nemaline Myopathy) 01/2024 - 06/2004
4	Epilepsy (Aura) 06/2021 - 02/2007
4	Optic Atrophy 01/2020 - 05/2013
4	Dystonia (Limb Dystonia) 01/2020 - 03/2012
4	Atrophy 08/2018 - 12/2011
4	Ciliopathies 01/2013 - 09/2009
3	Paraplegia (Spastic Paraplegia) 01/2023 - 01/2018
3	Rare Diseases (Rare Disease) 01/2023 - 07/2014
3	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2023 - 09/2014
3	Nervous System Diseases (Neurological Disorders) 12/2021 - 09/2015
3	Neurodevelopmental Disorders 01/2021 - 12/2015
3	Agenesis of Cerebellar Vermis 12/2020 - 06/2006
3	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 10/2019 - 08/2006
3	Peripheral Nervous System Diseases (PNS Diseases) 01/2019 - 03/2003
3	Cytochrome-c Oxidase Deficiency 01/2019 - 09/2014
3	Mitochondrial encephalopathy 01/2018 - 03/2014
3	Walker-Warburg Syndrome 01/2018 - 05/2006
3	Polyneuropathies (Polyneuropathy) 01/2018 - 05/2012
3	Ichthyosis (Xeroderma) 12/2017 - 05/2008
3	Astrocytoma (Pilocytic Astrocytoma) 04/2016 - 05/2012
3	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 11/2014 - 01/2013
3	Pelizaeus-Merzbacher Disease 06/2011 - 01/2006
2	Vomiting 04/2024 - 01/2017
2	Contracture 03/2024 - 08/2007
2	Respiratory Insufficiency (Respiratory Failure) 03/2024 - 01/2024
2	Fatigue 01/2023 - 09/2014
2	Fatty Liver 03/2022 - 08/2008
2	Alexander Disease (Alexander's Disease) 12/2021 - 06/2013
2	Quadriplegia (Spastic Quadriplegia) 11/2021 - 10/2016
2	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 11/2021 - 12/2003
2	Hypogonadism (Hypergonadotropic Hypogonadism) 12/2020 - 07/2015

Drug/Important Bio-Agent (IBA)

34	Proteins (Proteins, Gene)FDA Link 10/2022 - 03/2003
13	Biomarkers (Surrogate Marker)IBA 11/2023 - 08/2006
12	DystrophinIBA 04/2024 - 05/2011
12	CollagenIBA 03/2024 - 11/2002
11	Mitochondrial DNA (mtDNA)IBA 08/2022 - 03/2006
10	nusinersenIBA 02/2023 - 01/2019
9	EnzymesIBA 10/2020 - 05/2003
9	IronIBA 01/2020 - 10/2003
8	Protein Isoforms (Isoforms)IBA 01/2020 - 12/2003
7	coenzyme Q10 (CoQ10)IBA 02/2021 - 05/2012
7	AntioxidantsIBA 12/2020 - 05/2003
6	TubulinIBA 01/2023 - 07/2013
6	Riboflavin (Vitamin B2)FDA LinkGeneric 06/2022 - 09/2014
6	CalciumIBA 06/2021 - 07/2006
6	FrataxinIBA 10/2017 - 10/2003
5	Glutathione (Reduced Glutathione)IBA 01/2020 - 05/2003
5	Dystroglycans (Dystroglycan)IBA 01/2018 - 05/2006
4	Nonsense Codon (Nonsense Mutation)IBA 01/2021 - 05/2012
4	Adenosine Triphosphatases (ATPase)IBA 01/2020 - 05/2012
4	Lactic Acid (Lactate)FDA LinkGeneric 02/2016 - 06/2010
4	Creatine Kinase (Creatine Phosphokinase)IBA 05/2013 - 05/2011
3	Adrenal Cortex Hormones (Corticosteroids)IBA 04/2024 - 01/2020
3	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2019 - 09/2014
3	alpha-tocotrienol quinoneIBA 01/2019 - 11/2012
3	LipidsIBA 12/2017 - 05/2008
3	Fatty Acids (Saturated Fatty Acids)IBA 07/2016 - 01/2007
3	Mitochondrial Proteins (Mitochondrial Protein)IBA 09/2014 - 12/2009
3	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2013 - 10/2003
3	Carrier Proteins (Binding Protein)IBA 01/2013 - 12/2003
3	Immunoglobulins (Immunoglobulin)IBA 02/2012 - 12/2003
2	givinostatIBA 04/2024 - 10/2016
2	DNA (Deoxyribonucleic Acid)IBA 09/2022 - 01/2016
2	Triglycerides (Triacylglycerol)IBA 03/2022 - 05/2008
2	Thyroid HormonesIBA 01/2022 - 01/2022
2	Glial Fibrillary Acidic ProteinIBA 12/2021 - 06/2013
2	Cadherins (E-Cadherin)IBA 06/2021 - 01/2018
2	SpectrinIBA 01/2021 - 01/2019
2	Growth Hormone (Somatotropin)IBA 12/2020 - 07/2015

Therapy/Procedure

17	Therapeutics 10/2023 - 08/2008
4	Noninvasive Ventilation 01/2019 - 03/2007
3	Gastrostomy 01/2024 - 01/2018
2	Artificial Respiration (Mechanical Ventilation) 01/2024 - 07/2005