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R. Ferese · SciRah

Researcher profile · Semantic Scholar

R. Ferese

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R. Ferese — researcher profile on SciRah

h-index: 20
Works: 59
Citations: 1,424

Most-cited papers

Familial transposition of the great arteries caused by multiple mutations in laterality genes
A. De Luca, A. Sarkozy, F. Consoli, R. Ferese +9 more
2009Heart137 citations Open access
Semantic Scholar
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
E. Flex, M. Jaiswal, F. Pantaleoni, S. Martinelli +44 more
2014Human Molecular Genetics136 citations Open access
Semantic Scholar
ccf-mtDNA as a Potential Link Between the Brain and Immune System in Neuro-Immunological Disorders
S. Gambardella, F. Limanaqi, R. Ferese, F. Biagioni +3 more
2019Frontiers in Immunology135 citations Open access
Semantic Scholar
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations
M. Dentici, A. Sarkozy, F. Pantaleoni, C. Carta +9 more
2009European Journal of Human Genetics91 citations Open access
Semantic Scholar
RASopathies: Clinical Diagnosis in the First Year of Life
M. Digilio, F. Lepri, A. Baban, M. Dentici +7 more
2011Molecular Syndromology89 citations Open access
Semantic Scholar
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle
A. De Luca, A. Sarkozy, R. Ferese, F. Consoli +8 more
2011Clinical Genetics76 citations
Semantic Scholar
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
M. C. D'Asdia, I. Torrente, F. Consoli, R. Ferese +7 more
2013European Journal of Medical Genetics73 citations
Semantic Scholar
Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings
R. Ferese, N. Modugno, R. Campopiano, M. Santilli +9 more
2015Parkinson's Disease71 citations Open access
Semantic Scholar
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Eva-Juliane Vollstedt, S. Schaake, K. Lohmann, S. Padmanabhan +130 more
2023Movement Disorders44 citations Open access
Semantic Scholar
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot
V. Guida, R. Ferese, M. Rocchetti, Monica Bonetti +12 more
2012European Journal of Human Genetics44 citations Open access
Semantic Scholar
Rapamycin Ameliorates Defects in Mitochondrial Fission and Mitophagy in Glioblastoma Cells
P. Lenzi, R. Ferese, F. Biagioni, F. Fulceri +5 more
2021International Journal of Molecular Sciences39 citations Open access
Semantic Scholar
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.
M. Digilio, L. Bernardini, F. Consoli, F. Lepri +9 more
2013European Journal of Medical Genetics37 citations
Semantic Scholar
Methamphetamine persistently increases alpha-synuclein and suppresses gene promoter methylation within striatal neurons.
F. Biagioni, R. Ferese, F. Limanaqi, M. Madonna +3 more
2019Brain Research34 citations Open access
Semantic Scholar
Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease
R. Ferese, Simona Scala, F. Biagioni, E. Giardina +8 more
2018Frontiers in Neurology32 citations Open access
Semantic Scholar
Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers
A. Arcella, F. Limanaqi, R. Ferese, F. Biagioni +5 more
2020International Journal of Molecular Sciences31 citations Open access
Semantic Scholar
Rapamycin promotes differentiation increasing βIII-tubulin, NeuN, and NeuroD while suppressing nestin expression in glioblastoma cells
M. Ferrucci, F. Biagioni, P. Lenzi, S. Gambardella +8 more
2017OncoTarget31 citations Open access
Semantic Scholar
Quantitative Ultrastructural Morphometry and Gene Expression of mTOR-Related Mitochondriogenesis within Glioblastoma Cells
R. Ferese, P. Lenzi, F. Fulceri, F. Biagioni +6 more
2020International Journal of Molecular Sciences27 citations Open access
Semantic Scholar
Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease
S. Gambardella, F. Biagioni, R. Ferese, C. Busceti +4 more
2016Frontiers in Neuroscience24 citations Open access
Semantic Scholar
Modeling native and seeded Synuclein aggregation and related cellular dysfunctions in dopaminergic neurons derived by a new set of isogenic iPSC lines with SNCA multiplications
Angelo Iannielli, Mirko Luoni, S. Giannelli, R. Ferese +9 more
2022Cell Death and Disease22 citations Open access
Semantic Scholar
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect
R. Ferese, Monica Bonetti, F. Consoli, V. Guida +15 more
2018Human Mutation20 citations Open access
Semantic Scholar
The BDNF Val66Met Polymorphism (rs6265) Modulates Inflammation and Neurodegeneration in the Early Phases of Multiple Sclerosis
Ettore Dolcetti, Antonio Bruno, Federica Azzolini, L. Gilio +16 more
2022Genes17 citations Open access
Semantic Scholar
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)
R. Ferese, S. Zampatti, A. Griguoli, F. Fornai +7 more
2016Journal of Molecular Neuroscience14 citations
Semantic Scholar
Corticosterone Upregulates Gene and Protein Expression of Catecholamine Markers in Organotypic Brainstem Cultures
C. Busceti, R. Ferese, D. Bucci, L. Ryskalin +4 more
2019International Journal of Molecular Sciences13 citations Open access
Semantic Scholar
The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson’s Disease Owing Genetic and Anatomical Specificity
S. Gambardella, R. Ferese, F. Biagioni, C. Busceti +6 more
2017Frontiers in Cellular Neuroscience13 citations Open access
Semantic Scholar
Interleukin 6 SNP rs1818879 Regulates Radiological and Inflammatory Activity in Multiple Sclerosis
Antonio Bruno, Ettore Dolcetti, Federica Azzolini, A. Moscatelli +16 more
2022Genes12 citations Open access
Semantic Scholar
Analysis of Genetic and Non-genetic Predictors of Levodopa Induced Dyskinesia in Parkinson’s Disease
A. Tirozzi, N. Modugno, Nicole Piera Palomba, R. Ferese +4 more
2021Frontiers in Pharmacology12 citations Open access
Semantic Scholar
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study
A. di Fonzo, Marco Percetti, E. Monfrini, Ilaria Palmieri +26 more
2023Movement Disorders11 citations Open access
Semantic Scholar
Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot
V. Guida, F. Chiappe, R. Ferese, G. Usala +9 more
2011Clinical Genetics11 citations
Semantic Scholar
JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot
M. Digilio, A. De Luca, F. Lepri, V. Guida +5 more
2013American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy
S. Zampatti, C. Peconi, Giulia Calvino, R. Ferese +6 more
2023Genes8 citations Open access
Semantic Scholar
The Autophagy-Related Organelle Autophagoproteasome Is Suppressed within Ischemic Penumbra
F. Biagioni, F. Mastroiacovo, P. Lenzi, S. Puglisi-Allegra +7 more
2021International Journal of Molecular Sciences8 citations Open access
Semantic Scholar
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset
R. Campopiano, R. Ferese, S. Zampatti, E. Giardina +10 more
2020BMC Neurology8 citations Open access
Semantic Scholar
A Single Nucleotide ADA Genetic Variant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment
Mario Stampanoni Bassi, F. Buttari, I. Simonelli, L. Gilio +13 more
2020Genes8 citations Open access
Semantic Scholar
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project
Eva-Juliane Vollstedt, H. Madoev, Anna Aasly, A. Ahmad-Annuar +79 more
2023PLoS ONE7 citations Open access
Semantic Scholar
Autophagy Activation Associates with Suppression of Prion Protein and Improved Mitochondrial Status in Glioblastoma Cells
P. Lenzi, Carla I. Busceti, G. Lazzeri, R. Ferese +8 more
2023Cells7 citations Open access
Semantic Scholar
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants
R. Ferese, R. Campopiano, Simona Scala, C. D’Alessio +14 more
2021Frontiers in Genetics7 citations Open access
Semantic Scholar
An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease
F. Biagioni, R. Ferese, F. Giorgi, N. Modugno +6 more
2021Journal of neural transmission7 citations Open access
Semantic Scholar
Chronic MPTP in Mice Damage-specific Neuronal Phenotypes within Dorsal Laminae of the Spinal Cord
F. Biagioni, G. Vivacqua, G. Lazzeri, R. Ferese +5 more
2020Neurotoxicity research7 citations Open access
Semantic Scholar
Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion
Marianna De Cinque, O. Palumbo, E. Mazzucco, Antonella Simone +8 more
2017Frontiers in Genetics7 citations Open access
Semantic Scholar
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers
R. Campopiano, C. Femiano, Maria Antonietta Chiaravalloti, R. Ferese +11 more
2021Genes6 citations Open access
Semantic Scholar
Genetic regulation of IL-8 influences disease presentation of multiple sclerosis
Ettore Dolcetti, Antonio Bruno, Federica Azzolini, L. Gilio +14 more
2023Multiple Sclerosis5 citations
Semantic Scholar
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations
R. Ferese, Simona Scala, A. Suppa, R. Campopiano +15 more
2023Frontiers in Neurology5 citations Open access
Semantic Scholar
Occurrence of Total and Proteinase K-Resistant Alpha-Synuclein in Glioblastoma Cells Depends on mTOR Activity
L. Ryskalin, R. Ferese, G. Morucci, F. Biagioni +5 more
2022Cancers5 citations Open access
Semantic Scholar
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4
R. Campopiano, R. Ferese, F. Buttari, C. Femiano +8 more
2020Frontiers in Neurology5 citations Open access
Semantic Scholar
An IL-5 Single-Nucleotide Polymorphism Influences Neuroinflammation and Prospective Disease Activity in Multiple Sclerosis
Ettore Dolcetti, F. Buttari, Antonio Bruno, Federica Azzolini +16 more
2024International Journal of Molecular Sciences4 citations Open access
Semantic Scholar
Decipher non‐canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)
R. Ferese, Simona Scala, A. Suppa, R. Campopiano +16 more
2022Clinical Genetics4 citations Open access
Semantic Scholar
Interaction between miR-142-3p and BDNF Val/Met Polymorphism Regulates Multiple Sclerosis Severity
Ettore Dolcetti, A. Musella, Sara Balletta, L. Gilio +17 more
2024International Journal of Molecular Sciences3 citations Open access
Semantic Scholar
Effects of Prolonged Seizures on Basal Forebrain Cholinergic Neurons: Evidence and Potential Clinical Relevance
F. Giorgi, A. Galgani, A. Gaglione, R. Ferese +1 more
2020Neurotoxicity research3 citations
Semantic Scholar
Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease
S. Gambardella, R. Ferese, Simona Scala, Stefania Carboni +8 more
2018Parkinson's Disease3 citations Open access
Semantic Scholar
Next Generation Sequencing and ALS: known genes, different phenotyphes.
R. Campopiano, L. Ryskalin, E. Giardina, S. Zampatti +6 more
2017Archives Italiennes de Biologie2 citations
Semantic Scholar

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