Eugenia Borgione

Fondazione IRCCS Istituto Neurologico Carlo Besta — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

17h-index1.2kcitations49works0.62yr avg
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Research Topics

Mitochondrial Function and Pathology(11), RNA modifications and cancer(10), Genetics and Neurodevelopmental Disorders(9), Metabolism and Genetic Disorders(6), RNA and protein synthesis mechanisms(4)

Publications43 total

Sex-related differences in the short and long-term outcome of internal pallidus stimulation for dystonia
Neurological Sciences·2026Open Access
Focus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients
Genes·2025Open Access
Genetic and Clinical Spectrum of Limb–Girdle Muscular Dystrophies in Western Sicily
Genes·2025Open Access
Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20
Gene·2025Open Access
Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome
Genes·2025· 1 citedOpen Access
Expansion of the Genotypic and Phenotypic Spectrum of <em>TCTN3</em> Related Joubert Syndrome
Preprints.org·2025Open Access
Genetic Screening for Hereditary Transthyretin Amyloidosis in the Population of Cammarata and San Giovanni Gemini Through Red Flags and Registry Archives
Brain Sciences·2025Open Access
Expanding the Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis: The Glu61Ala Variant
Journal of Personalized Medicine·2025· 1 citedOpen Access
Clinical and genetic characterization of a progressive <i>RBL2</i>-associated neurodevelopmental disorder
Brain·2024· 1 citedOpen Access
The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study
International Journal of Molecular Sciences·2024Open Access
Successful Treatment with Patisiran in Amyloid Polyneuropathy Harboring His90Asn Mutation in the TTR Gene
Brain Sciences·2024· 2 citedOpen Access
Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders
Genes·2024· 2 citedOpen Access
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
The American Journal of Human Genetics·2023· 8 citedOpen Access
Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic
European Journal of Neurology·2023· 17 citedOpen Access
The Y831C Mutation of the POLG Gene in Dementia
Biomedicines·2023· 4 citedOpen Access
The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A&gt;G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review
Life·2023· 6 citedOpen Access
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability
Research in autism spectrum disorders·2022· 2 cited
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Genetics in Medicine·2022· 17 citedOpen Access
A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease.
PubMed·2022Open Access
A Transcriptome Analysis of mRNAs and Long Non-Coding RNAs in Patients with Parkinson’s Disease
International Journal of Molecular Sciences·2022· 28 citedOpen Access
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Frequent Co-authors

Carmela Scuderi(32), Mariangela Lo Giudice(16), Sandro Santa Paola(13), Corrado Romano(10), Francesco Domenico Di Blasi(10), Stéphanie Efthymiou(9), S Musumeci(9), Marika Giuliano(9), Tipu Sultan(8), Henry Houlden(8), Marco Fichera(8), F Castelló(8), Maurizio Elia(8), Vincenzo Di Stefano(8), Filippo Brighina(8), Blagovesta Marinova Karashova(7), Girolamo Aurelio Vitello(7), Gabriella Di Rosa(6), Daniela Avdjieva(6), Hadil Kathom(6)