Leonardo Caporali Selected Research

Spinocerebellar ataxia 28

6/2020

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.

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Leonardo Caporali Research Topics

Disease

10	Mitochondrial Diseases (Mitochondrial Disease) 10/2022 - 03/2013
9	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 01/2022 - 12/2010
7	Optic Nerve Diseases (Optic Neuropathy) 01/2021 - 07/2013
5	Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy) 06/2020 - 12/2010
4	Optic Atrophy 01/2022 - 03/2013
3	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 01/2022 - 05/2014
3	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2022 - 07/2015
3	Neoplasms (Cancer) 01/2022 - 09/2013
3	Ganglion Cysts (Ganglion) 01/2022 - 09/2014
3	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2020 - 07/2015
3	Dementia (Dementias) 01/2018 - 01/2015
2	Narcolepsy 01/2022 - 01/2016
2	Leigh Disease (Leigh's Disease) 01/2022 - 05/2014
2	Deglutition Disorders (Dysphagia) 01/2022 - 08/2014
2	Stroke (Strokes) 01/2022 - 05/2014
2	MELAS Syndrome (Syndrome, MELAS) 01/2021 - 05/2014
2	Wolfram Syndrome (Syndrome, Wolfram) 06/2020 - 01/2020
2	Muscular Diseases (Myopathy) 01/2019 - 08/2014
2	Parkinsonian Disorders (Parkinsonism) 01/2018 - 07/2015
2	Hearing Loss (Hearing Impairment) 01/2016 - 01/2015
2	Deafness (Deaf Mutism) 07/2015 - 08/2014
1	Headache (Headaches) 10/2022
1	Migraine Disorders (Migraine) 10/2022
1	Hypertriglyceridemia 01/2022
1	Thyroid Neoplasms (Thyroid Cancer) 01/2022
1	Papillary Thyroid Cancer 01/2022
1	Lactic Acidosis 01/2022
1	Cerebellar Ataxia (Dysmetria) 01/2022
1	Overweight 01/2022
1	Atrophy 01/2021
1	Retinal Degeneration 01/2021
1	Brain Diseases (Brain Disorder) 01/2021
1	Spinocerebellar ataxia 28 06/2020
1	Hereditary Spastic Paraplegia 06/2020
1	Renal Insufficiency (Renal Failure) 01/2020
1	Macular Degeneration (Age-Related Maculopathy) 01/2020
1	Hereditary Sensory and Autonomic Neuropathy Type Ie 01/2020
1	Cataplexy 01/2016
1	Sleepiness 01/2016
1	Cognitive Dysfunction 07/2015
1	Peripheral Nervous System Diseases (PNS Diseases) 07/2015
1	Auditory neuropathy 03/2015
1	Hereditary Sensory and Autonomic Neuropathies (HSAN) 01/2015
1	Cerebellar Ataxia, Deafness, and Narcolepsy 01/2015
1	Cataract (Cataracts) 08/2014
1	Visceral myopathy familial external ophthalmoplegia 02/2014
1	Glioblastoma (Glioblastoma Multiforme) 09/2013
1	Neurodegenerative Diseases (Neurodegenerative Disease) 07/2013
1	Blindness (Hysterical Blindness) 12/2010

Drug/Important Bio-Agent (IBA)

25	Mitochondrial DNA (mtDNA)IBA 01/2022 - 12/2010
8	Retinaldehyde (Retinal)IBA 01/2022 - 07/2013
3	Lactic Acid (Lactate)FDA LinkGeneric 10/2022 - 01/2021
3	DNA (Deoxyribonucleic Acid)IBA 01/2020 - 01/2015
2	CalciumIBA 06/2020 - 01/2020
1	AcidsIBA 10/2022
1	Analgesics (Analgesic Drugs)IBA 10/2022
1	OrexinsIBA 01/2022
1	ProhibitinsIBA 01/2022
1	HDL CholesterolIBA 01/2022
1	NADH DehydrogenaseIBA 01/2022
1	Alanine (L-Alanine)FDA Link 01/2021
1	Biomarkers (Surrogate Marker)IBA 01/2021
1	Aconitate Hydratase (Aconitase)IBA 01/2021
1	m-AAA proteasesIBA 06/2020
1	Glutamic Acid (Glutamate)FDA Link 01/2020
1	MethyltransferasesIBA 01/2020
1	Adenosine Triphosphatases (ATPase)IBA 01/2020
1	Arginine (L-Arginine)FDA Link 01/2020
1	purineIBA 01/2020
1	Urea (Carbamide)FDA LinkGeneric 01/2020
1	SerpinsIBA 01/2018
1	GranulinsIBA 01/2018
1	Adenosine Monophosphate (AMP)IBA 01/2018
1	Protein Kinases (Protein Kinase)IBA 01/2018
1	Presenilin-1IBA 01/2018
1	Presenilin-2IBA 01/2018
1	Antidepressive Agents (Antidepressants)IBA 01/2016
1	Pharmaceutical PreparationsIBA 01/2016
1	Sodium Oxybate (gamma Hydroxybutyrate)FDA Link 01/2016
1	Modafinil (Provigil)FDA Link 01/2016
1	Venlafaxine Hydrochloride (Effexor)FDA LinkGeneric 01/2016
1	Wakefulness-Promoting AgentsIBA 01/2016
1	Proteins (Proteins, Gene)FDA Link 08/2015
1	Cytochromes b (Cytochrome b)IBA 08/2014
1	DeoxyuridineIBA 02/2014
1	ThymidineIBA 02/2014
1	idebenoneIBA 02/2013

Therapy/Procedure

1	Enteral Nutrition (Feeding, Tube) 01/2022
1	Transplantation 01/2020
1	Therapeutics 01/2017
1	Cochlear Implantation 03/2015
1	Lasers (Laser) 02/2014