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542 results

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Page 1
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Among authors: brancati f. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
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: brancati f. Ann Neurol. 2002 Jan;51(1):14-8. Ann Neurol. 2002. PMID: 11782979
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia.
Brancati F, Valente EM, Castori M, Vanacore N, Sessa M, Galardi G, Berardelli A, Bentivoglio AR, Defazio G, Girlanda P, Abbruzzese G, Albanese A, Dallapiccola B; Italian Movement Disorder Study Group. Brancati F, et al. J Neurol Neurosurg Psychiatry. 2003 May;74(5):665-6. doi: 10.1136/jnnp.74.5.665. J Neurol Neurosurg Psychiatry. 2003. PMID: 12700316 Free PMC article.
Recurrent triploidy of maternal origin.
Brancati F, Mingarelli R, Dallapiccola B. Brancati F, et al. Eur J Hum Genet. 2003 Dec;11(12):972-4. doi: 10.1038/sj.ejhg.5201076. Eur J Hum Genet. 2003. PMID: 14508508
542 results