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The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, Gburek-Augustat J, Hanagasi HA, Heinzmann A, Horvath R, de Jonghe P, Kamm C, Klivenyi P, Klopstock T, Minnerop M, Münchau A, Renaud M, Roxburgh RH, Santorelli FM, Schirinzi T, Sival DA, Timmann D, Vielhaber S, Wallner M, van de Warrenburg BP, Zanni G, Zuchner S, Klockgether T, Schüle R, Schöls L; PREPARE Consortium; Synofzik M. Traschütz A, et al. Among authors: bertini e. Front Neurol. 2021 Jun 25;12:677551. doi: 10.3389/fneur.2021.677551. eCollection 2021. Front Neurol. 2021. PMID: 34248822 Free PMC article. Review.
OXPHOS and mtDNA alterations in a family with spastic paraparesis.
Santorelli FM, Piemonte F, Carrozzo R, Tessa A, Patrono C, Tozzi G, Bertini E. Santorelli FM, et al. Among authors: bertini e. Acta Neurol Scand. 2000 Apr;101(4):255-8. doi: 10.1034/j.1600-0404.2000.101004255.x. Acta Neurol Scand. 2000. PMID: 10770522
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.
Giannotti A, Tessa A, Patrono C, Florio LD, Velardo M, Dionisi-Vici C, Bertini E, Santorelli FM. Giannotti A, et al. Among authors: bertini e. Hum Mutat. 2000 Sep;16(3):277. doi: 10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V. Hum Mutat. 2000. PMID: 10980549 No abstract available.
905 results