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A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13.
Servidei S, Capon F, Spinazzola A, Mirabella M, Semprini S, de Rosa G, Gennarelli M, Sangiuolo F, Ricci E, Mohrenweiser HW, Dallapiccola B, Tonali P, Novelli G. Servidei S, et al. Among authors: dallapiccola b. Neurology. 1999 Sep 11;53(4):830-7. doi: 10.1212/wnl.53.4.830. Neurology. 1999. PMID: 10489050
Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG. Valente EM, et al. Among authors: dallapiccola b. Ann Neurol. 2005 Apr;57(4):513-9. doi: 10.1002/ana.20422. Ann Neurol. 2005. PMID: 15786477 Free article.
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.
Pellecchia MT, Valente EM, Cif L, Salvi S, Albanese A, Scarano V, Bonuccelli U, Bentivoglio AR, D'Amico A, Marelli C, Di Giorgio A, Coubes P, Barone P, Dallapiccola B. Pellecchia MT, et al. Among authors: dallapiccola b. Neurology. 2005 May 24;64(10):1810-2. doi: 10.1212/01.WNL.0000161843.52641.EC. Neurology. 2005. PMID: 15911822
PARK6-linked parkinsonism occurs in several European families.
Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, Caputo V, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in Parkinson's Disease. Valente EM, et al. Among authors: dallapiccola b. Ann Neurol. 2002 Jan;51(1):14-8. Ann Neurol. 2002. PMID: 11782979
974 results