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Losing DNA methylation at repetitive elements and breaking bad

Epigenetics & chromatin, 2021-06, Vol.14 (1), p.25-25, Article 25

2021

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VDAC Genes Expression and Regulation in Mammals

Frontiers in physiology, 2021-08, Vol.12, p.708695-708695

2021

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Human VDAC pseudogenes: an emerging role for VDAC1P8 pseudogene in acute myeloid leukemia

Biological research, 2023-06, Vol.56 (1), p.33-33, Article 33

2023

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A Genomic and Epigenomic Approach for Studying Neuropsychiatric Disorders Associated to Early-life Stress: Part II

Current genomics, 2018-12, Vol.19 (8), p.637-637

2018

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PURA-Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review

Genes, 2024-07, Vol.15 (7), p.848

2024

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A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report

Global medical genetics, 2023-09, Vol.10 (3), p.234-239

2023

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Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation

Global medical genetics, 2023-12, Vol.10 (4), p.370-375

2023

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Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review

Frontiers in pediatrics, 2023-09, Vol.11

2023

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Early Life Stress (ELS) Effects on Fetal and Adult Bone Development

Children (Basel), 2023-01, Vol.10 (1), p.102

2023

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Diagnostic Tools in the Detection of Physical Child Abuse: A Systematic Review

Children (Basel), 2022-08, Vol.9 (8), p.1257

2022

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Fever-Associated Seizures or Epilepsy: An Overview of Old and Recent Literature Acquisitions

Frontiers in pediatrics, 2022-04, Vol.10, p.858945-858945

2022

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Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability

Italian journal of pediatrics, 2022-02, Vol.48 (1), p.29-29, Article 29

2022

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PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Italian journal of pediatrics, 2019-12, Vol.45 (1), p.159-159, Article 159

2019

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Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

Frontiers in pediatrics, 2020-09, Vol.8, p.550-550

2020

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A novel GABRB3 variant in Dravet syndrome: Case report and literature review

Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1461-n/a

2020

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Voltage Dependent Anion-selective Channel (VDAC), the gatekeeper of mitochondria, as a signaling hub for Noncommunicable chronic diseases (NCDs)

Biochimica et biophysica acta. Bioenergetics, 2024-09, Vol.1865, p.149353, Article 149353

2024

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Editorial: A Genomic and Epigenomic Approach for Studying Neuropsychiatric Disorders Associated to Early-life Stress: Part I

Current genomics, 2018-11, Vol.19 (7), p.505-506

2018

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Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review

Medicine (Baltimore), 2022-08, Vol.101 (31), p.e29413

2022

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NRF-1 and HIF-1α contribute to modulation of human VDAC1 gene promoter during starvation and hypoxia in HeLa cells

Biochimica et biophysica acta. Bioenergetics, 2020-12, Vol.1861 (12), p.148289, Article 148289

2020

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GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review

Neurogenetics, 2024-04, Vol.25 (2), p.69-78

2024

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Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome

Neurological sciences, 2022-11, Vol.43 (11), p.6529-6538

2022

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Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2

European journal of medical genetics, 2020-08, Vol.63 (8), p.103957-103957, Article 103957

2020

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4q interstitial and terminal deletion: clinical features comparison in two unrelated children

AIMS medical science, 2023, Vol.10 (2), p.130-140

2023

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A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of MARCH1

Journal of pediatric genetics (Birmingham, Ala.), 2021-12, Vol.10 (4), p.259-265

2021

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Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis

Journal of pediatric genetics (Birmingham, Ala.), 2020-09, Vol.9 (3), p.177-182

2020

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Losing DNA methylation at repetitive elements and breaking bad

VDAC Genes Expression and Regulation in Mammals

Human VDAC pseudogenes: an emerging role for VDAC1P8 pseudogene in acute myeloid leukemia

A Genomic and Epigenomic Approach for Studying Neuropsychiatric Disorders Associated to Early-life Stress: Part II

PURA-Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review

A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report

Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation

Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review

Early Life Stress (ELS) Effects on Fetal and Adult Bone Development

Diagnostic Tools in the Detection of Physical Child Abuse: A Systematic Review

Fever-Associated Seizures or Epilepsy: An Overview of Old and Recent Literature Acquisitions

Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

A novel GABRB3 variant in Dravet syndrome: Case report and literature review

Voltage Dependent Anion-selective Channel (VDAC), the gatekeeper of mitochondria, as a signaling hub for Noncommunicable chronic diseases (NCDs)

Editorial: A Genomic and Epigenomic Approach for Studying Neuropsychiatric Disorders Associated to Early-life Stress: Part I

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review

NRF-1 and HIF-1α contribute to modulation of human VDAC1 gene promoter during starvation and hypoxia in HeLa cells

GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome

Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2

4q interstitial and terminal deletion: clinical features comparison in two unrelated children

A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of MARCH1

Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis

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