Ignazio Giuseppe Arena

Dr. Ignazio Giuseppe Arena

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Research Focus & Metrics

Academic Career Length

6Years (2021-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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26 January 2022 in Journal of Clinical Medicine
Verified
Journal Article
Open access
PDF file
IAIgnazio Giuseppe Arena
Ignazio Giuseppe Arena
APAlessia Pugliese
Alessia Pugliese
SVSara Volta
Sara Volta
ATAntonio Toscano
Antonio Toscano
OMOlimpia Musumeci
Olimpia Musumeci
Mitochondrial disorders are the most common inherited conditions, characterized by defects in oxidative phosphorylation and caused by mutations in nuclear or mitochondrial genes. Due to its high energy request, skeletal muscle is typically involved. According to the International Workshop of Experts in Mitochondrial Diseases held in Rome in 2016, the term Primary Mitochondrial Myopathy (PMM) should refer to those mitochondrial disorders affecting principally, but not exclusively, the skeletal muscle. The clinical presentation may include general isolated myopathy with muscle weakness, exercise intolerance, chronic ophthalmoplegia/ophthalmoparesis (cPEO) and eyelids ptosis, or multisystem conditions where there is a coexistence with extramuscular signs and symptoms. In recent years, new therapeutic targets have been identified leading to the launch of some promising clinical trials that have mainly focused on treating muscle symptoms and that require populations with defined genotype. Advantages in next-generation sequencing techniques have substantially improved diagnosis. So far, an increasing number of mutations have been identified as responsible for mitochondrial disorders. In this review, we focused on the principal molecular genetic alterations in PMM. Accordingly, we carried out a comprehensive review of the literature and briefly discussed the possible approaches which could guide the clinician to a genetic diagnosis.

1 June 2021 in Epilepsy & Behavior
Verified
Journal Article
Closed access
VFValentina Franco
Valentina Franco
MBMaria Antonietta Barbieri
Maria Antonietta Barbieri
PCPaola Maria Cutroneo
Paola Maria Cutroneo
IAIgnazio Giuseppe Arena
Ignazio Giuseppe Arena
GCGiuseppe Cicala
Giuseppe Cicala
Professor EMILIO PERUCCA PERUCCAProfessor EMILIO PERUCCA PERUCCA
Professor EMILIO PERUCCA PERUCCA

8 October 2021 in Journal of the Neurological Sciences
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Journal Article
Open access
PDF file
SCSandy Maria Cartella
Sandy Maria Cartella
CTCarmen Terranova
Carmen Terranova
IAIgnazio Giuseppe Arena
Ignazio Giuseppe Arena
Angelo QuartaroneAngelo Quartarone
Angelo Quartarone
PGPaolo Girlanda
Paolo Girlanda
Covid-19 had a negative impact on movement disorders, but there are no studies on tremor. The only present studies regard the management of DBS and botulinum toxin. Our aim is to assess the impact of Covid-19 on Essential and Dystonic Tremor, with regard on non-motor symptoms and everyday life.