Xena Giada Pappalardo

Genetics — University of Catania, Italy

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Xena Giada Pappalardo University of Catania Italy
143 ScienceLeadR Reputation 143
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Genetics

Subspecialties: Pediatrics - Neurology - Biochemistry

Full career – Last 3 years

Main Topics

Publications and Clinical Studies

Publications – Clinical Studies

Profile data updated on

Expert Rankings

Top experts on the MeSH terms this expert works on

Organizations

Career arc: 2016 - 2026

Source: PubMed

University of Catania

Publications Synthesis

Sources: PubMed, OpenAlex

Number : 48

Citations

Citations: 400 1st author: 9 Last author: 4 Unique author: 0


Best Journals

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Latest Publications

5 most recent indexed articles

Source: Pubmed

Title Journal Year Citations
The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS.
genes, neuroimaging, phenotype, ataxia, genotype, intellectual disability, neurodevelopment
Neurogenetics20260
Self-Limited Focal Epilepsies in Childhood: How Many and How to Treat.
epilepsy, epilepsies, partial, epileptic syndromes, seizures
Pediatr Rep20260
WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review.
genes, pharmaceutical preparations, exons, brain diseases
Curr Issues Mol Biol20260
A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement.
hypopigmentation, signs and symptoms, tuberous sclerosis, diagnosis
Children (Basel)20250
Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.
genes, epilepsy, genomics, phenotype, genome, pyridoxine, seizures, diagnosis, therapeutics, child
Genes (Basel)20250

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