List of works - Rosangela Ferese

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).

scientific article

A Single Nucleotide ADA Genetic Variant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment

scientific article published on 30 September 2020

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot

scientific article

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

scientific article

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

scientific article published on 25 December 2012

Corticosterone Upregulates Gene and Protein Expression of Catecholamine Markers in Organotypic Brainstem Cultures

scientific article published on 14 June 2019

Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion

scientific article published on 6 December 2017

Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease"

scientific article published on 09 September 2018

Familial transposition of the great arteries caused by multiple mutations in laterality genes

article

Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings.

scientific article published on 9 November 2015

Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease

scientific article published on 10 July 2018

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

scientific article published on 30 July 2018

JAG1Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot

scientific article published on 16 August 2013

Methamphetamine persistently increases alpha-synuclein and suppresses gene promoter methylation within striatal neurons

scientific article published on 28 May 2019

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease

scientific article published on 21 June 2018

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle

scientific article

Next Generation Sequencing and ALS: known genes, different phenotyphes.

scientific article published in December 2017

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

scientific article

Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot

scientific article published on 01 December 2011

PCR-based approach for qualitative molecular analysis of six neurotropic pathogens

scientific article published on January 2017

RASopathies: Clinical Diagnosis in the First Year of Life

scientific article published on 14 September 2011

Rapamycin promotes differentiation increasing βIII-tubulin, NeuN, and NeuroD while suppressing nestin expression in glioblastoma cells

scientific article published on 4 March 2017

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations

scientific article

Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).

scientific article published in December 2017

The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson's Disease Owing Genetic and Anatomical Specificity.

scientific article

Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease

scientific article

ccf-mtDNA as a Potential Link Between the Brain and Immune System in Neuro-Immunological Disorders

scientific article published on 09 May 2019

List of works by Rosangela Ferese

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).

A Single Nucleotide ADA Genetic Variant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

Corticosterone Upregulates Gene and Protein Expression of Catecholamine Markers in Organotypic Brainstem Cultures

Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion

Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease"

Familial transposition of the great arteries caused by multiple mutations in laterality genes

Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings.

Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

JAG1Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot

Methamphetamine persistently increases alpha-synuclein and suppresses gene promoter methylation within striatal neurons

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle

Next Generation Sequencing and ALS: known genes, different phenotyphes.

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot

PCR-based approach for qualitative molecular analysis of six neurotropic pathogens

RASopathies: Clinical Diagnosis in the First Year of Life

Rapamycin promotes differentiation increasing βIII-tubulin, NeuN, and NeuroD while suppressing nestin expression in glioblastoma cells

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations

Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).

The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson's Disease Owing Genetic and Anatomical Specificity.

Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease

ccf-mtDNA as a Potential Link Between the Brain and Immune System in Neuro-Immunological Disorders