Salvi S - Search Results

1

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

Salvi S, Dionisi-Vici C, Bertini E, Verardo M, Santorelli FM. Salvi S, et al. Hum Mutat. 2001 Nov;18(5):460. doi: 10.1002/humu.1221. Hum Mutat. 2001. PMID: 11668643

2

Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.

Tessa A, Salvi S, Casali C, Garavelli L, Digilio MC, Dotti MT, Di Giandomenico S, Valoppi M, Grieco GS, Comanducci G, Bianchini G, Fortini D, Federico A, Giannotti A, Santorelli FM. Tessa A, et al. Among authors: salvi s. Hum Mutat. 2003 Jul;22(1):104. doi: 10.1002/humu.9155. Hum Mutat. 2003. PMID: 12815605

3

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Salvi S, Santorelli FM, Bertini E, Boldrini R, Meli C, Donati A, Burlina AB, Rizzo C, Di Capua M, Fariello G, Dionisi-Vici C. Salvi S, et al. Neurology. 2001 Sep 11;57(5):911-4. doi: 10.1212/wnl.57.5.911. Neurology. 2001. PMID: 11552031

4

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

Castori M, Valente EM, Donati MA, Salvi S, Fazzi E, Procopio E, Galluccio T, Emma F, Dallapiccola B, Bertini E; Italian MTS Study Group. Castori M, et al. Among authors: salvi s. J Med Genet. 2005 Feb;42(2):e9. doi: 10.1136/jmg.2004.027375. J Med Genet. 2005. PMID: 15689444 Free PMC article. No abstract available.

5

PINK1 mutations are associated with sporadic early-onset parkinsonism.

Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A, Dallapiccola B, Bentivoglio AR. Valente EM, et al. Among authors: salvi s. Ann Neurol. 2004 Sep;56(3):336-41. doi: 10.1002/ana.20256. Ann Neurol. 2004. PMID: 15349860

6

The epsilon-sarcoglycan gene in myoclonic syndromes.

Valente EM, Edwards MJ, Mir P, DiGiorgio A, Salvi S, Davis M, Russo N, Bozi M, Kim HT, Pennisi G, Quinn N, Dallapiccola B, Bhatia KP. Valente EM, et al. Among authors: salvi s. Neurology. 2005 Feb 22;64(4):737-9. doi: 10.1212/01.WNL.0000151979.68010.9B. Neurology. 2005. PMID: 15728306

7

Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

Valente EM, Misbahuddin A, Brancati F, Placzek MR, Garavaglia B, Salvi S, Nemeth A, Shaw-Smith C, Nardocci N, Bentivoglio AR, Berardelli A, Eleopra R, Dallapiccola B, Warner TT. Valente EM, et al. Among authors: salvi s. Mov Disord. 2003 Sep;18(9):1047-51. doi: 10.1002/mds.10476. Mov Disord. 2003. PMID: 14502674

8

Hereditary early-onset Parkinson's disease caused by mutations in PINK1.

Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. Valente EM, et al. Among authors: salvi s. Science. 2004 May 21;304(5674):1158-60. doi: 10.1126/science.1096284. Epub 2004 Apr 15. Science. 2004. PMID: 15087508

9

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: salvi s. Neurology. 2005 May 24;64(10):1810-2. doi: 10.1212/01.WNL.0000161843.52641.EC. Neurology. 2005. PMID: 15911822

10

Arabidopsis HD-Zip II transcription factors control apical embryo development and meristem function.

Turchi L, Carabelli M, Ruzza V, Possenti M, Sassi M, Peñalosa A, Sessa G, Salvi S, Forte V, Morelli G, Ruberti I. Turchi L, et al. Among authors: salvi s. Development. 2013 May;140(10):2118-29. doi: 10.1242/dev.092833. Epub 2013 Apr 11. Development. 2013. PMID: 23578926

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