Eleonora Di Fatta

pubblicazioni come autore

 

2008                                                         Buono, S.,  Mongelli, V., Carrubba, A., Di Fatta, E., Mascali, G., Trubia, G. (2008). The

Condition of adults with ID: A comparative study on health and life status. Journal of

Policy and Practice in Intellectual Disabilities. Vol. 5, N. 1, pp. 25

 

2024                                                         Fallea, A.; Vetri, L.; L’Episcopo, S.; Bartolone, M.; Zingale, M.; Di Fatta, E.; d’Albenzio, G.; Buono, S.; Roccella, M.; Elia, M.; et al. Oral Health and Quality of Life in People with Autism Spectrum Disorder. J. Clin. Med. 2024, 13, 5179.

 

traduzioni/revisioni

acknowledgments

in pubblicazioni scientifiche

 

 

2024                                                         Acknowledgments in : Musumeci A, Vinci M, Treccarichi S, Chiavetta V, Greco D, Vitello A, Federico C, Saccone S, and Calì F. PPP2R5E: new gene potentially involved in specific learning disorder and myopathy. Gene

 

2024                                                         Acknowledgments in: Calì et al.  Investigating the role of the Zinc finger protein ZC2HC1C on autism susceptibility: a case report (submitted)

 

2024                                                         Acknowledgments in:  Vinci M, Treccarichi S, Galati Rando R, Musumeci A, Todaro V, Federico C, Saccone S, Elia M and Calì F. A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability. Scientifc Reports | (2024) 14:15848 | https://doi.org/10.1038/s41598-024-66475-2

 

2024                                                         Acknowledgments in: Vinci, M.; Greco, D.; Treccarichi, S.; Chiavetta, V.; Figura, M.G.; Musumeci, A.; Greco, V.; Federico, C.; Calì, F.; Saccone, S. Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms. Genes 2024, 15, 1056.

 

2024                                                         Acknowledgments in: Catania V et al.  Applied Behavior Analysis in a case of anomic aphasia in post-acute myocardial infarction with 1 cardiac arrest and brain hypoxia: results of tact-training. Frontiers in Psychology  2024 Jun 27:15:1407399.                                          doi: 10.3389/fpsyg.2024.1407399. eCollection 2024.

 

2024                                                         Acknowledgments in: Calì F et al.  PLEKGH1: new potential candidate gene for periventricular white matter abnormalities. Human Genomics and Genetic Diseases Genes 2024, 15(8), 1096; https://doi.org/10.3390/genes15081096

 

2024                                                         Acknowledgments in: Treccarichi S, Calì F, Vinci M, Ragalmuto A, Musumeci A, Federico, C, Costanza C, Bottitta M, Greco D, Saccone S, Elia M.  Implications of a De Novo Variant in the SOX12 Gene: a case with Generalized Epilepsy, Intellectual disability, and Emotional Behavioral Disorder of Childhood Curr. Issues Mol. Biol. 2024, 46(7), 6407-6422; https://doi.org/10.3390/cimb46070383

 

2024                                                         Acknowledgments in : Zettin M, Varini M, et al., 2024. Combination of Transcranial Direct Current Stimulation and Action Imitation Training in Post-Stroke Aphasia Rehabilitation: Implications from a Single Case Study. Medical Research Archives, [online] 12(2). https://doi.org/10.18103/mra

 

2024                                                         Acknowledgments in: Treccarichi S, Failla P, Vinci M, Musumeci A, Gloria A, Vasta A, Calabrese G, Papa C, Federico C, Saccone  S, Cali F. UNC5C: novel gene associated to psychiatric disorders, impacting the dysregulation of axon guidance pathways. Genes 2024 Feb 27;15(3):306. doi: 10.3390/genes15030306.

 

 

2024                                                         Acknowledgments in: Santa Paola S,  Di Blasi FD, Borgione E, Lo Giudice M, Giuliano M, Pettinato R, Di Stefano V, Brighina F, Lupica A, Scuderi C. Aromatic L-amino acid decarboxylase deficiency: a genetic screening in Sicilian patients with neurological disorders. Genes 2024, 15, 134. https://doi.org/10.3390/genes15010134

 

2024                                                         Acknowledgments in: Vinci M, Vitello GA, Greco D, Treccarichi S, Ragalmuto A, Musumeci A, Fallea A, Federico C, Calì F, Saccone S, Elia M. Next Generation Sequencing and Electromyography reveal the involvement of the P2RX6 gene in myopathy. Curr. Issues Mol. Biol. 2024, 46(2), 1150-1163; https://doi.org/10.3390/cimb46020073

                                                                      

 

2024                                                         Acknowledgments in:  Vetri, L.; Calì, F.; Saccone, S.; Vinci, M.; Chiavetta, N.V.; Carotenuto, M.; Roccella, M.; Costanza, C.; Elia, M. Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies. Int. J. Mol. Sci. 2024, 25, 1146. https://doi.org/10.3390/ijms25021146

 

2023                                                                        Acknowledgments in: Vinci, M.; Costanza, C.; Galati Rando, R.; Treccarichi, S.; Saccone, S.; Carotenuto, M.; Roccella, M.; Calì, F.; Elia, M.; Vetri, L. STXBP6. Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy. Int. J. Mol. Sci. 2023, 24, 16436. https://doi.org/10.3390/ ijms242216436

 

2023                                                                        Acknowledgments in: Di Blasi, F.D.; Costanzo, A.A.; Finocchiaro, M.; Stimoli, M.A.; Zuccarello, R.; Buono, S.; Ferri, R.;Zoccolotti, P. Academic Skills in Students with Autism SpectrumDisorder and Intellectual Disability:A Systematic Review andMeta-Analysis. Educ. Sci. 2023, 13, 1026. https://doi.org/10.3390/educsci13101026

 

2023                                                         Acknowledgments in : Calì F, Di Blasi FD, Avola E, Vinci M, Musumeci A, Gloria A, Greco D, Raciti DR, Zagami A, Rizzo B, et al. Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families. Medicina. 2023; 59(8):1503. https://doi.org/10.3390/medicina59081503

 

2023                                                         Acknowledgments in: Dimitri D,  Delia G,  Arduino M,  TurcoN and  Fioretto F. Observing the Behavioural Effects of Methylphenidate in Children and Adolescents with ASD-ADHD dual diagnosis: A Mini Review. Front. Child Adolesc. Psychiatry
Sec. Autism and Other Neurodevelopmental Disorders
Volume 2 - 2023 | doi: 10.3389/frcha.2023.1052115

 

2023                                                         Acknowledgments in: Panerai S, Catania V, Rundo F, Tasca D, Musso S, Babiloni C, Prestianni G, Muratore S, Ferri R. Functional Living Skills in Patients with Major Neurocognitive Disorder Due to Degenerative or Non-Degenerative Conditions: Effectiveness of a Non-Immersive Virtual Reality Training.      Sensors 2023, 23, 1896. https://doi.org/s23041896

 

2022                                                         Acknowledgments in: Fallea A, Zuccarello R, Roccella M,  Quatrosi G, Donadio S, Vetri V, Calì f. Sensory-adapted dental environment for the treatment of patients with
autism spectrum disorder. Children 2022, 9(3) 393; https://doi.org/10.3390/children9030393 

 

2021                                                         Acknowledgments in: Zettin M, Bondesan C, Nada G, Varini M, Dimitri D. Transcranial Direct-Curent Stimulation and Behavioral Training, a Promising Tollo for a taolor-Made Post-stroke Aphasia Rehabilitation : a Review. Front. Hum. Neurosci. 15:742136. doi: 10.3389/fnhum.2021.742136

 

2021                                                         Acknowledgments in: Di Rosa G, Nicotera AG, Turriziani L, Costanzo MC, Stracuzzi E, Vitello GA, Galati Rando R, Musumeci A, Vinci M, Musumeci SA, Calì F. Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs  Brain Sci. 2021, 11, 1293. https://doi.org/10.3390/ brainsci11101293

 

2021                                                         Acknowledgments in:  Musumeci A, Vinci M, L’Episcopo F, Ragalmuto A, Neri V, Roccella M, Quatrosi G, Vetri L, Calì F. Implementation of sample pooling procedure using a rapid SARS-CoV-2 Diagnostic Real-Time PCR test performed prior hospital admission of people with intellectual disabilities. Int. J. Environ. Res. Publi Health 2021, 18, 9317. https:// doi.org/10.3390/ijerph18179317

 

2021                                                         Acknowledgments in:  Leonardi MM, Di Blasi FD, Savelli E, Buono S. “Reading and Spelling Disorders in a school-based population screening in Sicily (Italy)”. Dyslexia DOI: 10.1002/dys.1694

 

2021                                                         Acknowledgments in: Buono S et al.  Clinical management of individuals with Intellectual Disability: the outbreak of Covid-19 pandemic as experienced in a clinical and research center Research in Developmental Disabilities. In press  https://doi.org/10.1016/j.ridd.2021.103856

 

2020                                                         Acknowledgments in: Schepis C, Lentini M, Calì F. An odd precocious case of Progressive Osseous Heteroplasia. G Ital Dermatol Venereol. 2020 Oct 21. doi: 10.23736/S0392-0488.20.06736-X. Online ahead of print.

 

2020                                                         Acknowledgments in: Calì F, Failla P, Vinci M, Siragusa M, Schepis C. A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma. Dermatol Online J. 2020 Jul 15;26(7):13030/qt6642w2p4.

 

2020                                                         Acknowledgments in: Vitello A. et al. Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation. Journal of Musculoskeletal and Neuronal Interactions (JMNI) 2020; 20(4):610-613

 

2019                                                         Traduzione articolo di  Zettin M, Leopizzi M, Galetto V. How does language change after an intensive treatment on imitation? Neuropsychol Rehabil. 2019 Oct;29(9):1332-1358. doi: 10.1080/09602011.2017.1406861. Epub 2018 Jan 11.

 

2019                                                         Traduzione articolo di Buscemi A, Pennisi V, Rapisarda A, Pennisi A, Coco M. Efficacy of osteopathic treatment in patients with stable moderate-to-severe chronic obstructive pulmonary disease: a randomized controlled pilot study.  Complement Integr Med. 2019 Aug 23. pii: /j/jcim.ahead-of-print/jcim-2018-0128/jcim-2018-0128.xml. doi: 10.1515/jcim-2018-0128. [Epub ahead of print]

 

 

2019                                                         Acknowledgements in Puzzo D.  IN SÆCULA SÆCULORUM “Il tempo della creazione” IN SÆCULA SÆCULORUM “The time of creation”. PH 2019 ;1:1-14

 

2019                                                         Acknowledgements in Nicotera AG, Calì F, Vinci M, Musumeci SA. GRIN2A: involvement in movement disorders and Intellectual Disability without seizures. Neurol Sci. 2019 May 16. doi: 10.1007/s10072-019-03923-2.

 

2019                                                         Acknowledgements in Siragusa M, Lentini M, Schepis C. Impressive reddish nodules with neoplastic-like appearance in a patient with Alzheimer's disease. Indian Journal of Dermatology, Venereology, and Leprology (in press)

 

2019                                                         Acknowledgements in Schepis C, Siragusa M, Centofanti A, Vinci M, Calì F. Two siblings affected by Netherton/Comèl syndrome. Diagnostic path and description of a  new SPINK5 variant. Dermatol Online J. 2019 Jul 15;25(7). pii: 13030/qt0881q3sk.

 

2019                                                         Acknowledgements in Schepis C, Siragusa M, Bottitta M,. Lentini M. “A small blackberry-like nodule on the nipple in a pregnant affected by Tuberous Sclerosis Complex” G Ital Dermatol Venereol. 2019 Feb 4. doi: 10.23736/S0392-0488.19.06174-1.

 

2019                                                         Acknowledgements in: Calì F, Cantone M, Cosentino FII, Lanza G, Ruggeri G, Chiavetta

V, Salluzzo R, Ragalmuto A, Vinci M, Ferri R. Interpreting genetic variants: hints from a

family cluster of Parkinson’s disease. Journal of Parkinson's Disease 2019(9):203-206

 

2018                                                          Traduzione/revisione articolo di: Bosco FM, Parola A, Angeleri R, Galetto V, Zettin M, Gabbatore I. Improvement  of Communication Skills after Traumatic Brain Injury: The Efficacy of the Cognitive Pragmatic Treatment Program using the Communicative Activities of Daily Living. Arch Clin Neuropsychol. 2018 Nov 1;33(7):875-888

 

2018                                                         Acknowledgements in: Schepis C, Failla P, Siragusa M, Vinci M, Calì F. Novel SPINK5

variants in a patient with Netherton syndrome and intellectual disability. The diagnostic

value of trichoscopy. G Ital Dermatol Venereol. 2020 Apr;155(2):239-240.

                                                                                                                            

2018                                                         Acknowledgements in: Vinci M, Fichera M, Musumeci SA, Cali F, Vitello GA. Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis Journal of Genetics. J Genet. 2018 Dec;97(5):1469-1472.

 

2018                                                         Acknowledgements in: Schepis C, Failla P,  Siragusa M, Chiavetta V, Ruggeri,G Calì F. An interesting case of Piebaldism with cafè-au-lait macules and freckling: Targeted next-generation sequencing for molecular diagnosis. Eur J Dermatol. 2018 Feb 1. doi: 10.1684/ejd.2017.3186

 

2017                                                         Acknowledgements in: Schepis C, Romano C.  Facies: the value of an old diagnostic tip in pediatric dermatology. G Ital Dermatol Venereol. 2017 Apr 19. doi: 10.23736/S0392-0488.17.05626-7. [Epub ahead of print]

 

2017                                                         Acknowledgements in: Schepis C, Siragusa M, Happle R. Psoriasis and alopecia areata in a Down syndrome patient: a Renbök phenomenon. European Journal of Dermatology 2017; 27(3)1:300-301 Mar 1. doi: 10.1684/ejd.2017.2977.

                                                                      

2017         2016         2016       2015           2013       2012     2011		Traduzione/revisione articolo di: Dimitri D, De Filippis D, Galetto V, Zettin M. Evaluation of the effectiveness of transcranial direct current stimulation (tDCS) and psychosensory stimulation through DOCS scale in a minimally conscious subject.  Neurocase. 2017 Apr;23(2):96-104.   Traduzione/revisione articolo di: Sacco K, Galetto V, Dimitri D, Geda E, Perotti F, Zettin M, Geminiani GC. Concomitant Use of Transcranial Direct Current Stimulation and Computer-Assisted Training for the Rehabilitation of Attention in Traumatic Brain Injured Patients: Behavioral and Neuroimaging Results. Front Behav Neurosci. 2016 Mar 31;10:57.   Traduzione/revisione articolo di: Marini A, Galetto V, Tatu K, Duca S, Geminiani G, Sacco K, Zettin M. Recovering two languages with the right hemisphere. Brain Lang. 2016 Aug;159:35-44. doi: 10.1016/j.bandl.2016.05.014.   Acknowledgements in: Finocchiaro M, Di Blasi FD, Zuccarello R, Costanzo AA, Cantagallo C, Amata MT, Zingale M, Elia M. A case of savant syndrome in a child with autism spectrum disorder. International Journal on Disability and Human Development. International Journal on Disability and Human Development. Volume 14, Issue 2, Pages 167–174.   Acknowledgements in: Schepis C, Siragusa M, Palazzo R , Piraccini BM.  Multiple Melanonychia as a sign of pituitary adenoma. Clin Exp Dermatol. 2013 Jun 13. doi: 10.1111/ced.12060   Acknowledgements in: Schepis C. Cutaneous findings in children with intellectual disabilities. The Journal of Dermatology 2012; 39: 1–6     Acknowledgements in: L. SALVADOR-CARULLA, G.M. REED, L.M. VAEZ-AZIZI, S.-A. COOPER, R. MARTINEZ-LEAL ET AL.  Intellectual developmental disorders: towards a new name, definition and framework for “mental retardation/intellectual disability” in ICD 11. World Psychiatry 2011;10(3)175-180
Traduzioni di libri/volumi     Edizione 2016/2017 2017/2018 2018/2019  2018/2019 Speciale Natale 2019/2020  2021/2022     2019           2019       2017       2016         2009		Traduttrice italiano-inglese e autrice di testi della   "Guida ai migliori ristoranti. Luoghi e sapori di qualità della Sicilia." Ediz. italiana e inglese a cura di Carmelo Pagano. Editore Sicilia da Gustare     Traduzione in italiano di: "Guida agli interventi mhGAP per i disturbi psichici, neurologici e da uso di sostanze in contesti non specialistici. Versione 2.0" pubblicato dall’Organizzazione Mondiale della Sanità nel 2016 con il titolo “mhGAP Intervention guide for mental, neurological and substance use disorders in non-specialized health settings: mental health Gap Action Programme (mhGAP) - Version 2.0”.   Traduzione in italiano del libro "IN GRANDMA FILI' KITCHEN: OLD SICILIAN RECIPES" By Rossana Savoca  ISBN-10: 1719912033 - ISBN-13 : 978-1719912037     Traduzione da inglese a italiano dei manuali “The Assessment of Functional Living Skills –The AFLS©”      Traduzione italiano-inglese  Il Libro “Le ricette di ieri e di oggi – Un viaggio in Sicilia attraverso i luoghi del gusto” Ediz. italiana e inglese a cura di Carmelo Pagano, Daniela Sammito, Eleonora Di Fatta.  Editore Sicilia da Gustare   Traduzione dall’Inglese all’Italiano del volume Atlas: Global Resources for people with Intellectual Disabilities – Atlas ID © WHO dell’Organizzazione Mondiale della Sanità  © 2009 Città Aperta Edizioni s.r