Enrico Bertini Selected Research

Ataxia (Dyssynergia)

11/2021	Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
1/2021	The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
2/2020	Speech and Language Disorders in Friedreich Ataxia: Highlights on Phenomenology, Assessment, and Therapy.
1/2020	A wearable video-oculography based evaluation of saccades and respective clinical correlates in patients with early onset ataxia.
11/2019	Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.
1/2019	One-year outcome of coenzyme Q10 supplementation in ADCK3 ataxia (ARCA2).
8/2018	Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.
1/2018	Non-invasive Focal Mechanical Vibrations Delivered by Wearable Devices: An Open-Label Pilot Study in Childhood Ataxia.
1/2018	Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
1/2018	A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia.

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Enrico Bertini Research Topics

Disease

19	Mitochondrial Diseases (Mitochondrial Disease) 08/2022 - 03/2006
16	Ataxia (Dyssynergia) 11/2021 - 10/2003
15	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2022 - 08/2003
13	Neurodegenerative Diseases (Neurodegenerative Disease) 06/2022 - 07/2006
13	Muscular Diseases (Myopathy) 01/2018 - 09/2006
12	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 08/2022 - 06/2003
12	Disease Progression 08/2022 - 05/2011
10	Inborn Genetic Diseases (Disease, Hereditary) 10/2022 - 03/2004
10	Intellectual Disability (Idiocy) 01/2020 - 11/2011
10	Seizures (Absence Seizure) 01/2020 - 09/2011
9	Leukoencephalopathies 01/2022 - 07/2004
9	Muscular Dystrophies (Muscular Dystrophy) 01/2020 - 06/2003
9	Scleroatonic muscular dystrophy 04/2016 - 01/2002
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	Muscle Weakness 10/2020 - 08/2007
6	Cardiomyopathies (Cardiomyopathy) 11/2021 - 06/2012
6	Cerebellar Ataxia (Dysmetria) 02/2021 - 09/2012
5	Muscle Hypotonia (Hypotonia) 11/2021 - 08/2006
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	Epilepsy (Aura) 06/2021 - 02/2007
4	Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease) 01/2021 - 07/2008
4	Dystonia (Limb Dystonia) 01/2020 - 03/2012
4	Optic Atrophy 01/2020 - 05/2013
4	Atrophy 08/2018 - 12/2011
4	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018 - 11/2011
4	Congenital Structural Myopathies (Centronuclear Myopathy) 09/2017 - 06/2012
4	Ciliopathies 01/2013 - 09/2009
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	Cytochrome-c Oxidase Deficiency 01/2019 - 09/2014
3	Peripheral Nervous System Diseases (PNS Diseases) 01/2019 - 03/2003
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	Nemaline Myopathies (Nemaline Myopathy) 11/2014 - 06/2004
3	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 11/2014 - 01/2013
3	Pelizaeus-Merzbacher Disease 06/2011 - 01/2006
2	Mitochondrial Myopathies (Mitochondrial Myopathy) 08/2022 - 09/2014
2	Paraplegia (Spastic Paraplegia) 04/2022 - 01/2018
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
2	Neuromuscular Diseases (Neuromuscular Disease) 06/2020 - 05/2011
2	Chorea (Rheumatic Chorea) 01/2020 - 09/2015
2	Parkinson Disease (Parkinson's Disease) 01/2020 - 07/2006
2	Paralysis (Palsy) 01/2020 - 12/2003
2	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 03/2019 - 01/2018

Drug/Important Bio-Agent (IBA)

33	Proteins (Proteins, Gene)FDA Link 08/2022 - 03/2003
11	Mitochondrial DNA (mtDNA)IBA 08/2022 - 03/2006
11	CollagenIBA 08/2018 - 11/2002
10	Biomarkers (Surrogate Marker)IBA 08/2022 - 08/2006
9	EnzymesIBA 10/2020 - 05/2003
9	IronIBA 01/2020 - 10/2003
8	DystrophinIBA 08/2022 - 05/2011
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	Riboflavin (Vitamin B2)FDA LinkGeneric 06/2022 - 09/2014
6	nusinersenIBA 01/2022 - 01/2019
6	CalciumIBA 06/2021 - 07/2006
6	FrataxinIBA 10/2017 - 10/2003
5	TubulinIBA 10/2020 - 07/2013
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	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	Carrier Proteins (Binding Protein)IBA 01/2013 - 12/2003
3	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2013 - 10/2003
3	Immunoglobulins (Immunoglobulin)IBA 02/2012 - 12/2003
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
2	olesoximeIBA 12/2020 - 01/2017
2	Pharmaceutical PreparationsIBA 01/2020 - 05/2018
2	Anticonvulsants (Antiepileptic Drugs)IBA 01/2020 - 01/2019
2	Transfer RNA (tRNA)IBA 10/2019 - 12/2011
2	HHH syndromeIBA 01/2019 - 03/2015

Therapy/Procedure

13	Therapeutics 12/2021 - 08/2008
4	Noninvasive Ventilation 01/2019 - 03/2007