PAPPALARDO, XENA GIADA
PAPPALARDO, XENA GIADA
SCIENZE BIOMEDICHE E BIOTECNOLOGICHE
A novel GABRB3 variant in Dravet syndrome: Case report and literature review
2020-01-01 Pavone, P.; Pappalardo, X. G.; Marino, S. D.; Sciuto, L.; Corsello, G.; Ruggieri, M.; Parano, E.; Piccione, M.; Falsaperla, R.
A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report
2023-01-01 Pavone, Piero; Falsaperla, Raffaele; Ruggieri, Martino; Marino, Simona Domenica; Parano, Enrico; Pappalardo, Xena Giada
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review
2022-01-01 Pavone, Piero; Pappalardo, Xena Giada; Ruggieri, Martino; Falsaperla, Raffaele; Parano, Enrico
Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability
2022-01-01 Pavone, Piero; Pappalardo, XENA GIADA; Mustafa, Naira; Yoon Cho, Sung; Kyu Jin, Dong; Incorpora, Gemma; Falsaperla, Raffaele; Marino, SIMONA DOMENICA; Corsello, Giovanni; Parano, Enrico; Ruggieri, Martino
Approccio di biologia dei sistemi per analizzare la regolazione trascrizionale in stato normale e patologico. Reti basate su ARACNe per dedurre la firma dell'espressione nella sclerosi laterale amiotrofica e l'analisi trascrizionale dell'espressione dei geni VDAC.
2022-07-21 Pappalardo, XENA GIADA
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy
2020-01-01 Pavone, P.; Ruggieri, M.; Marino, S. D.; Corsello, G.; Pappalardo, X.; Polizzi, A.; Parano, E.; Romano, C.; Marino, S.; Pratico, A. D.; Falsaperla, R.
Diagnostic Tools in the Detection of Physical Child Abuse: A Systematic Review
2022-01-01 Pavone, V.; Vescio, A.; Lucenti, L.; Amico, M.; Caldaci, A.; Pappalardo, X. G.; Parano, E.; Testa, G.
Early Life Stress (ELS) Effects on Fetal and Adult Bone Development
2023-01-01 Pappalardo, X. G.; Testa, G.; Pellitteri, R.; Dell'Albani, P.; Rodolico, M.; Pavone, V.; Parano, E.
Fever-Associated Seizures or Epilepsy: An Overview of Old and Recent Literature Acquisitions
2022-01-01 Pavone, P; Pappalardo, Xg; Parano, E; Falsaperla, R; Marino, Sd; Fink, Jk; Ruggieri, M
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review
2024-01-01 Falsaperla, Raffaele; Sortino, Vincenzo; Vitaliti, Giovanna; Privitera, Grete Francesca; Ruggieri, Martino; Fusto, Gaia; Pappalardo, Xena Giada
Human VDAC pseudogenes: an emerging role for VDAC1P8 pseudogene in acute myeloid leukemia
2023-01-01 Pappalardo, Xena Giada; Risiglione, Pierpaolo; Zinghirino, Federica; Ostuni, Angela; Luciano, Daniela; Bisaccia, Faustino; De Pinto, Vito; Guarino, Francesca; Messina, Angela
Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
2020-01-01 Falsaperla, R.; Pappalardo, X. G.; Romano, C.; Marino, S. D.; Corsello, G.; Ruggieri, M.; Parano, E.; Pavone, P.
Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2
2020-01-01 Pavone, P.; Pappalardo, X. G.; Incorpora, G.; Falsaperla, R.; Marino, S. D.; Corsello, G.; Parano, E.; Ruggieri, M.
Novel malformations: Chiari type 1 and hydrocephalus in Zhu-Tokita-Takenouchi-Kim syndrome and novel SON variants
2022-01-01 Pavone, Piero; Saia, Federica; Pappalardo, Xena; Barbagallo, Massimo; Prato, Adriana; Rizzo, Renata
Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome
2022-01-01 Pavone, Piero; Pappalardo, Xena Giada; Mustafa, Naira; Falsaperla, Raffaele; Marino, Simona Domenica; Corsello, Giovanni; Bianca, Sebastiano; Parano, Enrico; Ruggieri, Martino
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
2019-01-01 Pavone, P; Corsello, G; Cho, Sy; Pappalardo, Xg; Ruggieri, M; Marino, Sd; Jin, Dk; Marino, S; Falsaperla, R
VDAC Genes Expression and Regulation in Mammals
2021-01-01 Zinghirino, F.; Pappalardo, X. G.; Messina, A.; Nicosia, G.; De Pinto, V.; Guarino, F.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel GABRB3 variant in Dravet syndrome: Case report and literature review | 1-gen-2020 | Pavone, P.; Pappalardo, X. G.; Marino, S. D.; Sciuto, L.; Corsello, G.; Ruggieri, M.; Parano, E.; Piccione, M.; Falsaperla, R. | |
| A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report | 1-gen-2023 | Pavone, Piero; Falsaperla, Raffaele; Ruggieri, Martino; Marino, Simona Domenica; Parano, Enrico; Pappalardo, Xena Giada | |
| Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review | 1-gen-2022 | Pavone, Piero; Pappalardo, Xena Giada; Ruggieri, Martino; Falsaperla, Raffaele; Parano, Enrico | |
| Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability | 1-gen-2022 | Pavone, Piero; Pappalardo, XENA GIADA; Mustafa, Naira; Yoon Cho, Sung; Kyu Jin, Dong; Incorpora, Gemma; Falsaperla, Raffaele; Marino, SIMONA DOMENICA; Corsello, Giovanni; Parano, Enrico; Ruggieri, Martino | |
| Approccio di biologia dei sistemi per analizzare la regolazione trascrizionale in stato normale e patologico. Reti basate su ARACNe per dedurre la firma dell'espressione nella sclerosi laterale amiotrofica e l'analisi trascrizionale dell'espressione dei geni VDAC. | 21-lug-2022 | Pappalardo, XENA GIADA | |
| Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy | 1-gen-2020 | Pavone, P.; Ruggieri, M.; Marino, S. D.; Corsello, G.; Pappalardo, X.; Polizzi, A.; Parano, E.; Romano, C.; Marino, S.; Pratico, A. D.; Falsaperla, R. | |
| Diagnostic Tools in the Detection of Physical Child Abuse: A Systematic Review | 1-gen-2022 | Pavone, V.; Vescio, A.; Lucenti, L.; Amico, M.; Caldaci, A.; Pappalardo, X. G.; Parano, E.; Testa, G. | |
| Early Life Stress (ELS) Effects on Fetal and Adult Bone Development | 1-gen-2023 | Pappalardo, X. G.; Testa, G.; Pellitteri, R.; Dell'Albani, P.; Rodolico, M.; Pavone, V.; Parano, E. | |
| Fever-Associated Seizures or Epilepsy: An Overview of Old and Recent Literature Acquisitions | 1-gen-2022 | Pavone, P; Pappalardo, Xg; Parano, E; Falsaperla, R; Marino, Sd; Fink, Jk; Ruggieri, M | |
| GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review | 1-gen-2024 | Falsaperla, Raffaele; Sortino, Vincenzo; Vitaliti, Giovanna; Privitera, Grete Francesca; Ruggieri, Martino; Fusto, Gaia; Pappalardo, Xena Giada | |
| Human VDAC pseudogenes: an emerging role for VDAC1P8 pseudogene in acute myeloid leukemia | 1-gen-2023 | Pappalardo, Xena Giada; Risiglione, Pierpaolo; Zinghirino, Federica; Ostuni, Angela; Luciano, Daniela; Bisaccia, Faustino; De Pinto, Vito; Guarino, Francesca; Messina, Angela | |
| Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures | 1-gen-2020 | Falsaperla, R.; Pappalardo, X. G.; Romano, C.; Marino, S. D.; Corsello, G.; Ruggieri, M.; Parano, E.; Pavone, P. | |
| Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2 | 1-gen-2020 | Pavone, P.; Pappalardo, X. G.; Incorpora, G.; Falsaperla, R.; Marino, S. D.; Corsello, G.; Parano, E.; Ruggieri, M. | |
| Novel malformations: Chiari type 1 and hydrocephalus in Zhu-Tokita-Takenouchi-Kim syndrome and novel SON variants | 1-gen-2022 | Pavone, Piero; Saia, Federica; Pappalardo, Xena; Barbagallo, Massimo; Prato, Adriana; Rizzo, Renata | |
| Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome | 1-gen-2022 | Pavone, Piero; Pappalardo, Xena Giada; Mustafa, Naira; Falsaperla, Raffaele; Marino, Simona Domenica; Corsello, Giovanni; Bianca, Sebastiano; Parano, Enrico; Ruggieri, Martino | |
| PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? | 1-gen-2019 | Pavone, P; Corsello, G; Cho, Sy; Pappalardo, Xg; Ruggieri, M; Marino, Sd; Jin, Dk; Marino, S; Falsaperla, R | |
| VDAC Genes Expression and Regulation in Mammals | 1-gen-2021 | Zinghirino, F.; Pappalardo, X. G.; Messina, A.; Nicosia, G.; De Pinto, V.; Guarino, F. |