CURRICULUM VITAE Rosalia D'ANGELO

rdangelo@unime.it
https://publons.com/researcher/2240110/rosalia-dangelo/
https://www.researchgate.net/profile/Rosalia-Dangelo
https://orcid.org/0000-0001-6510-3121


CURRENT POSITION
Associate Professor (BIO / 13 Applied Biology) at the Department of Biomedical, Dental and Morphological and Functional Imaging Sciences, University of Messina.


EDUCATION AND TRAINING
Degree in Biological Sciences - University of Messina
Specialization in “Biochemistry and Clinical Chemistry - University of Messina
PhD in "Human Cellular Biology" - XV Cycle - University of Messina


ACADEMIC ROLES AND SPECIFIC PROFESSIONAL EXPERIENCES

From September 2022 - Internationalization Coordinator for the Course in Physiotherapy. University of Messina
From January 2022- Member of the Joint Teachers-Students Commission of the BIOMORF Department of the University of Messina.
June 2021 - National Scientific Qualification for the functions of Second Level Professor in the Competition Sector 05 / F1 (SSD BIO / 13 - Applied Biology)
November 2018-to date Member of the Didactic Commission of the Degree Course in Dentistry and Dental Prosthetics of the University of Messina
2016 Member of the "Roster" of individual experts in the 6 thematic areas of the Regional Innovation Strategy for Smart Specialization 2014/2020 S3 Sicily, in the industrial application of KET (Key Enabling Technologies) of European level and in the evaluation of economic sustainability- project finance (PO-ERDF2). Regional Department of Activities. Department of Productive Activities. Sicilian region.
March-October 2013- Member of the Didactic Commission of the Degree Course in Medicine and Surgery, University of Messina.
From 2013 to date - Member of the Research and Higher Education Commission, Department of Biomedical, Dental and Morphological and Functional Imaging Sciences, University of Messina.
2012-2013. Participation in the Register of Auditors for the evaluation of ministerial research programs and products.
2007. Member of the Scientific Disciplinary Area Committee 05-Biological Sciences Financial Years 2005-2006. University of Messina.
From December 2006 to February 2022-Permanent Researcher in Applied Biology (S.S.D.BIO/13) at the University of Messina.
2004- Scientific training at the section of Biology and Genetics of the Dept. of Oncology, Biology and Genetics of the University of Genoa, as part of the research activity on the pathogenesis of Cavernous Angiomas.
1998-1999 - Professional work at the Multidisciplinary Institute of Biochemical Sciences and Clinical Biochemistry - Faculty of Medicine and Surgery - University of Messina


MAIN RESEARCH TOPICS

The research activity is mainly focused on the study of the basic mechanisms involved in Cerebral Vascular Malformations such as Cerebral Cavernous Angiomas (CCM) and Arteriovenous Malformations (bAVM).

With regard to Cavernous Cerebral Angiomas (https://www.ccmitalia.unito.it/), the research activity is focused on the inheritance mechanisms of the three mutated CCM genes and their role in the onset of the CCM phenotype as well as on the identification of a fourth CCM gene, in the absence of mutations in the canonical genes. More recently, the study also focused on transcriptomic analysis conducted on endothelial cells isolated from CCM lesions, in order to identify dysregulated pathways such as those related to angiogenesis, ECM signaling, neuroinflammation and ROS metabolism. As regards the Arteriovenous Malformations (bAVM), the study is based on Whole Exome Sequencing analysis (WES), with the aim of identifying mutated genes involved in processes such as vasculomorphogenesis, vascular differentiation and ionic homeostasis, which if altered can lead to the bAVM phenotype. Another area of research concerns the study of the basic mechanisms involved in retinal degeneration with particular reference to Retinitis pigmentosa.
More precisely, the research is based on the analysis of the alteration of gene expression in cultures of retinal pigment epithelium under conditions of oxidative stress by means of RNA-Seq analysis, in order to identify new potentially associated / causative pathways of some hereditary forms of Retinitis. pigmentosa. In addition, the focus is on the identification of non-coding RNAs (ncRNAs) involved in regulatory processes, the deregulation of which could play an important role in the etiopathogenesis of the group of pathologies in question.
Finally, the genetic aspects and molecular mechanisms underlying Trimethylaminuria, a rare metabolic disorder (http://portale.unime.it/tmau-messina/contatti/) are being studied.

SKILLS
Next Generation Sequencing, Bioinformatics, Biostatistics, Genomics, Molecular Genetics

PARTICIPATION IN RESEARCH PROJECTS

• 2004-Member of the group of the University of Messina participating in the PRIN entitled: Study of the role of KRIT1 in integrin-mediated cell adhesion and in the pathogenesis of cerebral cavernous malformations (CCM1). In collaboration with the Universities of Turin, Genoa, Siena, Pavia and EASTERN PIEDMONT "Amedeo Avogadro" -Vercelli Amount financed: EUR 256,000.00.

• 2011-Participation in the PRIN 2010-2011. Title: The “omics” sciences as a tool for translational research in neuroncology. Scientific Coordinator: Prof. Tomasello Francesco Area 06 medical sciences University of Messina Funding awarded: EUR 902.867
• From 2013 to date - Member of the Operational Unit of Biology and Genetics of the University of Messina belonging to the Research Network of CCM Italia, the Italian Community for Cavernous Cerebral Malformations (https: //www.ccmitalia.unito. it / content / area-researchers).


PARTICIPATION IN EDITORIAL COMMITTEES OF SCIENTIFIC JOURNALS AND IN THE DRAFTING OF BOOKS

• 2020 to date. Guest Editor for "LIFE" (ISSN 2075-1729) in the Special Issue "Genetics and Epigenetic Mechanisms of the Neurovascular Unit". (https://www.mdpi.com/journal/life/special_issues/Genetics_Epigenetic_Mechanisms
• March 2020 to date. Member of the Topics Board of "Antioxidants" (ISSN 2076-3921). (https://www.mdpi.com/journal/antioxidants/topic_editors)
• 2020. Co-author of chapter 3 of volume I “L. Donato et al. Advances in Bioinformatics and Statistics Bentham Books "
• 2018. Collaboration in the drafting of the work called "Elements of Biology and Genetics" (authors: P. Bonaldo, C. Crisafulli, R. D'Angelo, M. Francolini, S. Grimaudo, C. Rinaldi, P. Riva, M.G. Romanelli) Edition I / 2019. Update of chapters VI (Cell cycle and its regulation) and VII (Sexuality, reproduction and development).
• 2017. Associate Editor for BMC Medical Genetics (Clinical-molecular genetics and cytogenetics) • Organizing Committee Member of “International Conference and Exhibition on Genome Science” Jan 21-31, 2018, Las Vegas, USA https://helicsgroup.net/home/conference_details/2).

BELONGING TO SCIENTIFIC ASSOCIATIONS AND SOCIETIES
• From 2000 to date- Member of A.I.B.G. (Italian Association of Biology and General and Molecular Genetics)
• From 2019 to date - Member of SIGU (Italian Society of Medical Genetics)
From 2021 to date- Member of SIBS (Italian Society of Experimental Biology)


AWARDS AND ACKNOWLEDGMENT
July 2022-Recipient of a liberal donation for an amount of Euro 1,000.00 for the research activity on Cavernous Cerebral Malformations (CCM)" conducted in the Molecular Genetics laboratory of the Dip. of Biomedical Sciences and Morphological and Functional Imaging, University of Messina.
2021- Beneficiary of the FFABR UNIME 2021
2019-Beneficiary of the FFABR UNIME 2019
2018-Honorary Affiliation to the Research Body "EURO-MEDITERRANEAN INSTITUTE OF SCIENCE AND TECHNOLOGY (IEMEST) recognized by MIUR, registered in the National Research Registry and in the database of the European Commission for research associations, awarded with the "HR - Excellence in Research" recognition by the European Commission • November 2018 - Award for the best scientific production with HIGH TRANSLATIONAL PERSPECTIVES ON RETINITIS PIGMENTOSA received at the conference "Research Studies and Innovative Therapies to Defeat Retinitis Pigmentosa", promoted by the Italian Federation of Retina and Hypovision (F.I.R.I.) and by the Retinopathic Association and Visually Impaired Sicilians (A.R.I.S.) in the Aula Magna "M. Vignola" - P.O. "V. Cervello" in Palermo "(AWARD RECEIVED TOGETHER WITH: Antonina Sidoti, Luigi Donato, Concetta Scimone and Carmela Rinaldi).
2013- Recipient of a donation for an amount of Euro 2,500.00 for the research activity concerning "The genetic-molecular screening of the genes KRIT1, MGC4607 and PDCD10 identified as responsible for Cavernous Cerebral Malformations (CCM)" conducted in the laboratory of Biology and Genetics of the Department of Biomedical Sciences and Morphological and Functional Images, University of Messina.

ACTIVITY OF REVIEWER FOR SCIENTIFIC JOURNALS

International Journal of Medical Sciences (ISSN: 1449-1907)
Journal of the Neurological Sciences (ISSN: 0022-510X)
Journal of Neurology, Neurosurgery, and Psychiatry (ISSN: 1468-330X)
BMC Neurology (ISSN: 1471-2377)
European Journal of Medical Genetics (ISSN: 1769-7212)
Free Radical Biology and Medicine (ISSN: 1873-4596)
Progress in Retinal and Eye Research (ISSN: 1873-1635)
Cell Cycle (ISSN: 15384101


TEACHING ACTIVITY MASTER STUDY COURSES
• Degree in Medicine and Surgery. University of Messina. A.A. 2006-2007 current year: Lecturer for the teaching of Biology and Genetics. in the C.I. Biology and Genetics.
• Master's Degree in Dentistry and Dental Prosthetics. University of Messina. Academic Year 2009-2010 current year: Professor of Applied Biology teaching. From the A.Y. 2018-2019: Reference teacher.
• A.A. 2022-2023 Degree Course in Medicine and Surgery with Biotechnology. Teacher of Cell Biology.
• Master's Degree in Sciences and Techniques of Preventive and Adapted Motor Activity. University of Messina. A.A. 2005-2006: Adjunct Professor for the teaching of the Biology of Aging. A.A. 2007-2008 / 2008-2009: Lecturer in the teaching of the Biology of Aging.
• Specialized Degree in Sciences and Techniques of the diagnostic technical health professions. University of Messina. A.A. 2007-2008 / 2008-2009: Lecturer in Applied Biology teaching.


THREE YEAR COURSES

• Degree in Exercise and Sports Sciences. University of Messina. A.A. 2005-2006: Adjunct professor for the teaching of Biology and Genetics. A.Y.2007-2008 / 2008 2009: Lecturer in the teaching of Biology and Genetics.
• Degree in Biomedical Laboratory Techniques. University of Messina. A.A. 2007-2008 / 2008- 2009: Lecturer in Applied Biology teaching
• Degree in Nursing. University of Messina. A.A. 2007-2008 / 2008-2009 / 2011-2012 / 2012-2013 current year: Professor of Applied Biology, C.I. "Biological basis of life" (1st (until 2022) and 2nd channel). Coordinator of the Integrated Course "Biological Bases of Life" (Channel 2, 1st year, 1st Semester) from the A.Y. 2015/2016 to current year.
• CdS in Nursing. University of Messina. A.Y. 2007-2008/ 2008-2009/ 2011-2012/2012-2013 to 2021-2022: Professor of Applied Biology, C.I. "Biological Bases of Life" (1st channel-Messina).
• Course in Orthoptics and Ophthalmological Assistance. University of Messina. A.A. 2007-2008 / 2008-2009: Lecturer in Applied Biology teaching
• CdS in Obstetrics. University of Messina. A.A. 2008-2009: Lecturer in Applied Biology teaching.
• CdS in Medical Radiology Techniques, Imaging and Radiotherapy. University of Messina. A.A. 2008/2009:
• Lecturer in Applied Biology teaching Course in Physiotherapy. University of Messina. A.A. 2012/2013 to the current year: Professor of Applied Biology, C.I. "Biological and Molecular Bases". Coordinator of the Integrated Course "Biological and Molecular Bases" (1st year, 1st Semester) from the A.Y. 2015/2016 to current year.
• Degree in Biotechnology. University of Messina A.A. 2017-2018 / 2018-2019: Lecturer for the teaching of Cell Biology C.I. Cellular and Tissue Biology. A.A. 2020-2021: Seminar activity within the teaching of Cell Biology C.I. Cellular and Tissue Biology.

SPECIALIZATION SCHOOLS
• A.A. 2009-2010 School of Specialization in Medical Genetics

MASTER'S DEGREE

• Didactic activity in the context of the II level Master in "ADVANCED MEDICAL BIOTECHNOLOGIES FOR LABORATORY DIAGNOSTICS", University of Messina (A.Y. 2016/2017 and 2017/2018).
• Member of the Organizing Committee and of the Teaching Body of the Master in "BIOINFORMATICS AND STATISTICS APPLIED TO SCIENCES" activated by the Euro - Mediterranean Institute of Science and Technology (I.E.ME.S.T.) based in Palermo. Early March 2019 - Duration 6 months. Hours 300.


PARTICIPATION IN THE COLLEGE OF TEACHERS OF RESEARCH DOCTORATES ACCREDITED BY THE MINISTRY

• PhD in “NEUROBIOMORPHOLOGICAL, OPHTHALMOLOGICAL AND GENETIC SCIENCES” (DOT0714839). University of Messina Academic year starting: 2007. Cycle: XXIII.
• Research Doctorate in “RECEPTOR SCIENCES AND POSTURE” (DOT0914958). University of Messina. Academic start year: 2009. Cycle: XXV.
• PhD in “CELLULAR BIOLOGY AND BIOTECHNOLOGY” (DOT0314048). University of Messina Academic year starting: 2011. Cycle: XXVII.
• PhD in “CELLULAR BIOLOGY AND BIOTECHNOLOGY” (DOT0314048). University of Messina Academic year starting: 2012. Cycle: XXVIII.
• PhD in “APPLIED BIOLOGY AND EXPERIMENTAL MEDICINE” (DOT1314952). University of Messina Academic year starting: 2013. Cycle: XXIX.


CONTRACTS FOR OCCASIONAL SELF-EMPLOYMENT COLLABORATION FOR SEMINAR TEACHING ACTIVITIES

• Seminar entitled "University Objective: my future and Biology" as part of the "Orientation course, pilot study" 2017/2018 for the Liceo Scientifico Seguenza, Messina. Assigned body: ERSU Messina (Regional Body for the Right to University Education).
• •Seminar entitled "Levels of organization of Living Matter" as part of the "Preparation course for passing university tests for entry to degree courses with scheduled access at national level A.A. 2018/2019 - winter edition 2018. Assigning body: ERSU Messina (Regional Body for the Right to University Education).
• Seminar entitled "University Objective: my future and Biology - Levels of organization of Living Matter" as part of the "Preparation course for passing university tests for admission to degree courses with scheduled access at national level A.Y. 2018 / 2019- summer edition 2018. Assigning body: ERSU Messina (Regional Body for the Right to University Education).
• Seminar entitled "My future and Biology - Levels of organization of Living Matter" as part of the "Preparation course for passing university tests for entry to degree courses with scheduled access at national level A.Y. 2019 / 2020- summer edition 2019. Assigning body: ERSU Messina (Regional Body for the Right to University Education)





SCIENTIFIC PRODUCTION OF THE LAST 5 YEARS

Total impact factor: 134
Average impact factor: 4.8
Total citations: 1.141 (by Scopus, April 20223
h-index = 23 (by Scopus, April 2023)



1. Concetta Scimone, Simona Alibrandi , Luigi Donato, GiuseppeValerio DeGaetano, Carmela Fusco , Grazia Nardella , Marco Castori , Carmela Rinaldi , Concetta Alafaci , Antonino Germanò , Rosalia D'Angelo, Antonina Sidoti (2023) Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells. Biochim Biophys Acta Mol Cell Res Apr 6;119474. doi: 10.1016/j.bbamcr.2023.119474. [IF = 5.011]

2. Luigi Donato, Concetta Scimone, Simona Alibrandi, Sergio Zaccaria Scalinci, Domenico Mordà, Carmela Rinaldi, Rosalia D'Angelo, Antonina Sidoti (2023) Human retinal secretome: A cross link between mesenchymal and retinal cells. World Journal of Stem Cells (In press) [IF = 5.247]

3. Concetta Scimone, Luigi Donato, Simona Alibrandi, Concetta Alafaci, Angela D'Ascola, Sergio Vinci, Rosalia D'Angelo, Antonina Sidoti (2022). Deciphering impact of single nucleotide polymorphisms on co-transcriptional modification in CCM gene mRNAs. American Journal of Physiology-Cell Physiology. 12 Sep 2022https://doi.org/10.1152/ajpcell.00279.2022 [IF = 5.282]

4. Luigi Donato, Concetta Scimone, Simona Alibrandi, Sergio Zaccaria Scalinci, Carmela Rinaldi, Rosalia D’Angelo, Antonina Sidoti (2022). Epitranscriptome Analysis of Oxidative Stressed Retinal Epithelial Cells Depicted a Possible RNA Editing Landscape of Retinal Degeneration. Antioxidants 2022, 11, 1967. https://doi.org/10.3390/antiox11101967 [IF = 7.675]

5. Scimone C, Donato L, Alibrandi S, D'Angelo R, Sidoti A. (2022) Evidences of PIEZO1 involvement in cerebral cavernous malformation pathogenesis. Microvasc Res. 2022 May;141:104342. doi: 10.1016/j.mvr.2022.104342. Epub 2022 Feb 14. [IF = 3.55]

6. Scimone C,Alibrandi S,Donato L,Alafaci C,Germanò A,Vinci SL, D'Angelo R, Sidoti A Editome landscape of CCM-derived endothelial cells RNA Biology, 01 Jan 2022, 19(1):852- 865. [IF =4.652]

7. Acri G. , Micali A., D'Angelo R., Puzzolo D., Aragona P., Testagrossa B , Aragona E., Edward Wylegala E., Nowinska A (2022) Raman Spectroscopic Study of Amyloid Deposits in Gelatinous Drop-like Corneal Dystrophy. J Clin Med . 2022 Mar 4;11(5):1403. doi: 10.3390/jcm11051403. [IF = 5.583]

8. Scimone C., Donato L., Alibrandi S., Vadalà M., Giglia G., Sidoti A., D'Angelo R. (2021) N-retinylidene-N- retinylethanolamine adduct induces expression of chronic inflammation cytokines in retinal pigment epithelium cells. Exp Eye Res. May 29;209:108641. doi: 10.1016/j.exer.2021.108641. [IF = 3.467]

9. Donato, L.; Scimone, C.; Alibrandi, S.; Abdalla, E.M.; Nabil, K.M.; D’Angelo, R.; Sidoti,A.(2021). New Omics—Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype? Int. J. Mol. Sci. 22, 70. [IF =5.923]

10. Rinaldi C, Donato L, Alibrandi S, Scimone C, D'Angelo R, Sidoti A. Oxidative Stress and the Neurovascular Unit. Life (Basel). 2021 Jul 29;11(8):767. doi: 10.3390/life11080767
[IF =3.817]

11. Donato, L.; Abdalla, E.M.; Scimone, C.; Alibrandi, S.; Rinaldi, C.; Nabil, K.M.; D’Angelo, R.; Sidoti, A. (2021) Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling. Int. J. Mol. Sci. 22, 3484. https://doi.org/10.3390/ ijms22073484 [IF = 5.923]

12. Donato, L., Scimone, C., Rinaldi, C., D’Angelo, R*., Sidoti, A. (2021). New evaluation methods of read-mapping by 17 aligners on simulated and empirical NGS data: an updated comparison of DNA- and RNA-Seq data from Illumina and Ion Torrent technologies. Neural Comput & Applic . https://doi.org/10.1007/ s00521-021-06188-z. [IF=5.606]

13. Alibrandi S., Nicita F. , Donato L. , Scimone C., Rinaldi C., D’Angelo R., Sidoti A. (2021). Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes. Molecules. 26,7045https://doi.org/10.3390/molecules26227045. [IF = 4.411]

14. Donato, L.; Alibrandi, S.; Scimone, C.; Castagnetti, A.; Rao, G.; Sidoti, A.; D’Angelo, R. (2021) Gut-Brain Axis Cross-Talk and Limbic Disorders as Biological Basis of Secondary TMAU. J. Pers. Med., 11, 87. https://doi.org/ 10.3390/jpm11020087 [IF=4.945]

15. Scimone C, Alibrandi S, Donato L, Giofrè SV, Rao G, Sidoti A, D'Angelo R. (2021) Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin. J Clin Pharm Ther. 2021 Apr;46(2):304-309. doi: 10.1111/jcpt.13315. Epub 2020 Nov 28. [IF = 2.512]

16. Donato, L.; Scimone, C.; Alibrandi, S.; Pitruzzella, A.; Scalia, F.; D'Angelo, R.; Sidoti, A. (2020) Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline. Antioxidants (Basel) 2020, 9, doi:10.3390/antiox9111158. [IF = 6.313]

17. Scimone, C.; Alibrandi, S.; Scalinci, S.Z.; Trovato Battagliola, E.; D'Angelo, R.; Sidoti, A.; Donato, L. (2020) Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells. Antioxidants (Basel) 2020, 9, doi: 10.3390/antiox9111154. [IF = 6.313]

18. Scimone C, Donato L, Alibrandi S, Esposito T, Alafaci C, D'Angelo R, Sidoti A. (2020) Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells. Biochim Biophys Acta Mol Basis Dis. 2020 Aug 30;1866(12):165956. doi: 10.1016/j.bbadis.2020.165956. Epub ahead of print. PMID: 32877751. [IF = 5.187]

19. Scimone, C.; Granata, F.; Longo, M.; Mormina, E.; Turiaco, C.; Caragliano, A.A.; Donato, L; Sidoti, A.; D’Angelo, R. (2020) Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis. Int. J. Mol. Sci. 2020, 21, 4321. doi: 10.3390/ijms21124321 [IF = 5.923]

20. Donato, L., Scimone, C., Alibrandi, S., R., Rinaldi, C., Sidoti, A., D'Angelo, R. (2020) Discovery of GLO1 new related genes and pathways by RNA-Seq on A2E-stressed retinal epithelial cells could improve knowledge on retinitis pigmentosa. Antioxidants 2020, 9(5), 416; doi:10.3390/antiox9050416 [IF = 6.313]

21. Donato, L., D’Angelo R., Alibrandi, S., Rinaldi, C., Sidoti, A., Scimone, C. (2020) Effects of A2E-induced oxidative stress on retinal epithelial cells: new insights on retinitis pigmentosa development. Antioxidants 2020, 9, 307; doi: 10.3390/antiox9040307 [IF=6.313]

22. Donato, L., Scimone, C., Alibrandi, S., Rinaldi, C., Sidoti, A., D'Angelo, R. (2020)Transcriptome analyses of lncRNAs in A2E-stressed retinal epithelial cells unveil innovative links between metabolic impairments related to oxidative stress and retinitis pigmentosa. Antioxidants 2020, 9, 318. doi: 10.3390/antiox9040318 [IF=6.313]

23. Scimone, C., Donato, L., Alafaci, C., Granata, F., Rinaldi, C., Longo, M., D’Angelo,R., Sidoti, A. (2020). High- Throughput Sequencing to detect novel Likely Gene-Disrupting variants in pathogenesis of sporadic brain arteriovenous malformations. Front. Genet. doi: 10.3389/fgene.2020.00146 [IF= 4.599]

24. Romano, C.G., Mangiaracina, R.,Donato, L., D'Angelo, R., Scimone, C., & Sidoti, A. (2019). Aged fingerprints for DNA profile: First report of successful typing. Forensic Sci Int, 302, 109905. doi:10.1016/j.forsciint.2019.109905 [IF=2.108]

25. Scimone, C., Donato, L., Marino, S., D'Angelo, R., and Sidoti, A. (2018). Vis-à-Vis: a focus on Cerebral Cavernous Malformations and Brain Arteriovenous Malformations pathogenesis. Neurological Sciences. doi: 10.1007/ s10072-018-3674-x [IF=2.415]

26. Scimone C., Donato L., Katsarou Z., Bostantjopoulou S., D'Angelo R. and Sidoti A. (2018) Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance. Front. Neurol. 9:953. doi: 10.3389/fneur.2018.00953 [IF=2.635]


27. Donato, L., Scimone, C., Rinaldi, C., Aragona, P., Briuglia, S., D'Ascola, A., D'Angelo, R., and Sidoti, A. (2018). Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? Invest Ophthalmol Vis Sci59(2), 843-857. doi: 10.1167/iovs.17-22962.[IF3.812]

28. Donato, L., Scimone, C., Nicocia, G., Denaro L., Robledo R., Sidoti, A., D'Angelo, R. (2018). GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case-control study in a Sicilian population. Mol Biol Rep.doi:10.1007/s11033-018-4295-4 [IF =2.1]