MALATTIE RARE 3/2025

1. 1.Indelicato E, Delatycki M B, Farmer J, et al.. A global perspective on research advances and future challenges in Friedreich ataxia. Nature Reviews Neurology. 2025; 21(4), 204–215.. 2025
   Articolo scientificoNature Reviews Neurology. 2025; 21(4), 204–215.Leggi il paperCerca versione gratuita
2. 2.Naghipour S, Corben LA, Hulme AJ, et al.. Omaveloxolone for the treatment of Friedreich ataxia: efficacy, safety, and future perspectives.. Movement Disorders. 2025; 40(2), 226–230.. 2025
   Articolo scientificoMovement Disorders. 2025; 40(2), 226–230.Leggi il paperCerca versione gratuita
3. 3.De Giorgis V, Tagliabue A, Bisulli F, et al.. Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group.. Front Neurol. 2023;14:1215618. 2023
   Articolo scientificoFront Neurol. 2023;14:1215618Leggi il PDF gratuito
4. 4.Veneruzzo GM, Loos MA, Armeno M, et al.. Glucose transporter type 1 deficiency syndrome: clinical aspects, diagnosis, and treatment.. Arch Argent Pediatr. 2023;121(1):e202202677.. 2023
   Articolo scientificoArch Argent Pediatr. 2023;121(1):e202202677.Leggi il PDF gratuito
5. 5.Shabshin G, Shabshin N.. Bone marrow lesions related to bone marrow edema syndromes and osteonecrosis.. Orthopadie (Heidelb). 2025;54(5):324-331. 2025
   Articolo scientificoOrthopadie (Heidelb). 2025;54(5):324-331Leggi il PDF gratuito
6. 6.Zarate YA, Bosanko K, Andres A, Fish JL.. Bone health in SATB2-associated syndrome: Results from a large prospective cohort and recommendations for surveillance.. Am J Med Genet A. 2024;194(2):203-210.. 2024
   Articolo scientificoAm J Med Genet A. 2024;194(2):203-210.Leggi il paperCerca versione gratuita
7. 7.Reetz K, Lischewski SA, Dogan I, et al.. Friedreich's ataxia-a rare multisystem disease.. Lancet Neurol. 2025;24(7):614-624.. 2025
   Articolo scientificoLancet Neurol. 2025;24(7):614-624.Cerca su Google Scholar
8. 8.Umrao A, Pahuja M, Chatterjee NS.. Safety and efficacy of omaveloxolone v/s placebo for the treatment of Friedreich's ataxia in patients aged more than 16 years: a systematic review.. Orphanet J Rare Dis. 2024;19(1):495.. 2024
   Articolo scientificoOrphanet J Rare Dis. 2024;19(1):495.Leggi il PDF gratuito
9. 9.Lucca C, Rosina E, Pezzani L, et al.. First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric- Onset Rare Diseases.. Clin Genet. 2025;108(4):412-421.. 2025
   Articolo scientificoClin Genet. 2025;108(4):412-421.Leggi il paperCerca versione gratuita
10. 10.Marwaha S, Knowles JW, Ashley EA.. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.. Genome Med. 2022;14(1):23. 2022
    Articolo scientificoGenome Med. 2022;14(1):23Leggi il PDF gratuito

I link ai libri possono contenere un codice affiliato Amazon: in qualità di affiliato, ECM Finder potrebbe ricevere una commissione sugli acquisti idonei, senza alcun costo aggiuntivo per te. I link ai paper rimandano alla fonte scientifica (DOI, versione open-access o ricerca accademica).