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Principali pubblicazioni del C.R.R. per le Malattie Rare del Sistema Osteomuscolare e del tessuto connettivo

24-nov-2022

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  • Di Stefano V, Attanasi C, Ferrante C, Di Muzio A. Late onset of dropped head syndrome following mantle radiation therapy for Hodgkin lymphoma. BMJ Case Rep. 2018 Dec 14;11(1):e226822. doi: 10.1136/bcr-2018-226822. PMID: 30567263; PMCID: PMC6301549. 
  • Vitale M, Ferrante C, Di Stefano V, Onofrj M. Viral encephalitis in Parry- Romberg syndrome. BMJ Case Rep. 2019 May 6;12(5):e230151. doi: 10.1136/bcr-2019-230151. PMID: 31064793; PMCID: PMC6506038.
  • Graziosi A, Pellegrino N, Di Stefano V, Raucci U, Luchetti A, Parisi P. Misdiagnosis and pitfalls in Panayiotopoulos syndrome. Epilepsy Behav. 2019 Sep;98(Pt A):124-128. doi: 10.1016/j.yebeh.2019.07.016. Epub 2019 Jul 29. PMID: 31369969.
  • Rispoli MG, Di Stefano V, Mantuano E, De Angelis MV. Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine. BMJ Case Rep. 2019 Oct 5;12(10):e231129. doi: 10.1136/bcr-2019-231129. PMID: 31586957; PMCID: PMC6781968.
  • Di Stefano V, Colasurdo M, Onofrj M, Caulo M, De Angelis MV. Recurrent stereotyped TIAs: atypical Bow Hunter's syndrome due to compression of non- dominant vertebral artery terminating in PICA. Neurol Sci. 2020 Jul;41(7):1941-1944. doi: 10.1007/s10072-020-04247-2. Epub 2020 Jan 18. PMID: 31955349.
  • Di Stefano V, Lupica A, Rispoli MG, Di Muzio A, Brighina F, Rodolico C. Rituximab in AChR subtype of myasthenia gravis: systematic review. J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):392-395. doi: 10.1136/jnnp-2019-322606. Epub 2020 Feb 25. PMID: 32098874.
  • Rotondo E, Pellegrino N, Di Battista C, Graziosi A, Di Stefano V, Striano P. Clinico-diagnostic features of neuralgic amyotrophy in childhood. Neurol Sci. 2020 Jul;41(7):1735-1740. doi: 10.1007/s10072-020-04314-8. Epub 2020 Mar 5. PMID: 32140911.
  • Di Stefano V, Barbone F, Ferrante C, et al. Inflammatory polyradiculoneuropathies: Clinical and immunological aspects, current therapies, and future perspectives. European Journal of Inflammation. January 2020. doi:10.1177/2058739220942340.
  • Di Stefano V, Rispoli MG, Pellegrino N, Graziosi A, Rotondo E, Napoli C, Pietrobon D, Brighina F, Parisi P. Diagnostic and therapeutic aspects of hemiplegic migraine. J Neurol Neurosurg Psychiatry. 2020 Jul;91(7):764-771. doi: 10.1136/jnnp-2020-322850. Epub 2020 May 19. PMID: 32430436; PMCID: PMC7361005.
  • Di Stefano V, Battaglia G, Giustino V, Gagliardo A, D'Aleo M, Giannini O, Palma A, Brighina F. Significant reduction of physical activity in patients with neuromuscular disease during COVID-19 pandemic: the long-term consequences of quarantine. J Neurol. 2021 Jan;268(1):20-26. doi: 10.1007/s00415-020-10064-6. Epub 2020 Jul 13. PMID: 32661716; PMCID: PMC7356123.
  • Lupica A, Di Stefano V, Gagliardo A, Iacono S, Pignolo A, Ferlisi S, Torrente A, Pagano S, Gangitano M, Brighina F. Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers? Brain Sci. 2021 Mar 21;11(3):398. doi: 10.3390/brainsci11030398. PMID: 33801069; PMCID: PMC8004068.
  • Russo M, Gentile L, Di Stefano V, Di Bella G, Minutoli F, Toscano A, Brighina F, Vita G, Mazzeo A. Use of Drugs for ATTRv Amyloidosis in the Real World: How Therapy Is Changing Survival in a Non-Endemic Area. Brain Sci. 2021 Apr 27;11(5):545. doi: 10.3390/brainsci11050545. PMID: 33925301; PMCID: PMC8146901.
  • Cosentino G, Di Stefano V, Presti RL, Montana M, Todisco M, Gastaldi M, Cortese A, Alfonsi E, Tassorelli C, Fierro B, Caimi G, Brighina F. Expression pattern of matrix metalloproteinases-2 and -9 and their tissue inhibitors in patients with chronic inflammatory demyelinating polyneuropathy. Neurol Sci. 2021 Oct;42(10):4297-4300. doi: 10.1007/s10072-021-05314-y. Epub 2021 May 14. PMID: 33988800.
  • Gambino CM, Agnello L, Lo Sasso B, Scazzone C, Giglio RV, Candore G, Ciaccio AM, Di Stefano V, Brighina F, Vidali M, Ciaccio M. Comparative Analysis of BIOCHIP Mosaic-Based Indirect Immunofluorescence with Enzyme-Linked Immunosorbent Assay for Diagnosing Myasthenia Gravis. Diagnostics (Basel). 2021 Nov 13;11(11):2098. doi: 10.3390/diagnostics11112098. PMID: 34829445; PMCID: PMC8619605.
  • Gambino CM, Agnello L, Lo Sasso B, Giglio RV, Di Stefano V, Candore G, Pappalardo EM, Ciaccio AM, Brighina F, Vidali M, Ciaccio M. The role of serum free light chain as biomarker of Myasthenia Gravis. Clin Chim Acta. 2022 Mar 1;528:29-33. doi: 10.1016/j.cca.2022.01.004. Epub 2022 Jan 17. PMID: 35051425.
  • Di Stefano V, Thomas E, Giustino V, Iacono S, Torrente A, Pillitteri G, Gagliardo A, Lupica A, Palma A, Battaglia G and Brighina F (2022) Motor Conduction Studies and Handgrip in Hereditary TTR Amyloidosis: Simple Tools to Evaluate the Upper Limbs. Front. Neurol. 13:835812. doi: 10.3389/fneur.2022.835812
  • Lupica A, Di Stefano V, Iacono S, Pignolo A, Quartana M, Gagliardo A, Fierro B, Brighina F. Impact of COVID-19 in AChR Myasthenia Gravis and the Safety of Vaccines: Data from an Italian Cohort. Neurol Int. 2022 Apr 27;14(2):406-416. doi: 10.3390/neurolint14020033. PMID: 35645352; PMCID: PMC9149833.
  • Di Stefano V, Fava A, Gentile L, Guaraldi P, Leonardi L, Poli L, Tagliapietra M, Vastola M, Fanara S, Ferrero B, Giorgi M, Perfetto F, Russo M, Russo D. Italian Real-Life Experience of Patients with Hereditary Transthyretin Amyloidosis Treated with Patisiran. Pharmgenomics Pers Med. 2022 May 12;15:499-514. doi: 10.2147/PGPM.S359851. PMID: 35592550; PMCID: PMC9113125.
  • Iacono S, Lupica A, Di Stefano V, Borgione E, Brighina F. A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease. Acta Myol. 2022 Mar 31;41(1):37-40. doi: 10.36185/2532-1900-067. PMID: 35465342; PMCID: PMC9004334
  • Di Lisi D, Di Caccamo L, Damerino G, Portelli MC, Comparato F, Di Stefano V, Brighina F, Corrado E, Galassi AR, Novo G. Effectiveness and Safety of Oral Anticoagulants in Cardiac Amyloidosis: Lights and Shadows. Curr Probl Cardiol. 2022 Mar 25:101188. doi: 10.1016/j.cpcardiol.2022.101188. Epub ahead of print. PMID: 35346721.
  • Iacono S, Di Stefano V, Alonge P, Vinciguerra C, Milella G, Caputo F, Lasorella P, Neto G, Pignolo A, Torrente A, Lupica A, Ajdinaj P, Firenze A, Tozza S, Manganelli F, Di Muzio A, Piscosquito G, Brighina F. Adherence and Reactogenicity to Vaccines against SARS-COV-2 in 285 Patients with Neuropathy: A Multicentric Study. Brain Sci. 2022 Oct 16;12(10):1396. doi: 10.3390/brainsci12101396. PMID: 36291329; PMCID: PMC9599423.
  • Schirò G, Di Stefano V, Iacono S, Lupica A, Brighina F, Monastero R, Balistreri CR. Advances on Cellular Clonotypic Immunity in Amyotrophic Lateral Sclerosis. Brain Sci. 2022 Oct 20;12(10):1412. doi: 10.3390/brainsci12101412. PMID: 36291345; PMCID: PMC9599688.
  • Di Stefano V, Tubiolo C, Gagliardo A, Presti RL, Montana M, Todisco M, Lupica A, Caimi G, Tassorelli C, Fierro B, Brighina F, Cosentino G. Metalloproteinases and Tissue Inhibitors in Generalized Myasthenia Gravis. A Preliminary Study. Brain Sci. 2022, 12, 1439. https://doi.org/10.3390/brainsci12111439
  • Di Lisi D, Di Stefano V, Brighina F, Galassi AR, Novo G. THERAPY OF ATTR CARDIAC AMYLOIDOSIS: CURRENT INDICATIONS. Curr Probl Cardiol. 2022 Nov 3:101487. doi: 10.1016/j.cpcardiol.2022.101487. Epub ahead of print. PMID: 36336119.