Vazza G - Search Results

1

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.

Bertolin C, Boaretto F, Barbon G, Salviati L, Lapi E, Divizia MT, Garavelli L, Occhi G, Vazza G, Mostacciuolo ML. Bertolin C, et al. Among authors: vazza g. J Neurol Sci. 2010 Jul 15;294(1-2):124-6. doi: 10.1016/j.jns.2010.03.030. Epub 2010 May 5. J Neurol Sci. 2010. PMID: 20447653

2

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

Vazza G, Zortea M, Boaretto F, Micaglio GF, Sartori V, Mostacciuolo ML. Vazza G, et al. Am J Hum Genet. 2000 Aug;67(2):504-9. doi: 10.1086/303017. Epub 2000 Jun 30. Am J Hum Genet. 2000. PMID: 10877981 Free PMC article.

3

Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity.

Mostacciuolo ML, Rampoldi L, Righetti E, Vazza G, Schiavon F, Angelini C. Mostacciuolo ML, et al. Among authors: vazza g. Neuromuscul Disord. 2000 Oct;10(7):497-502. doi: 10.1016/s0960-8966(00)00128-0. Neuromuscul Disord. 2000. PMID: 10996781

4

Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1.

Zortea M, Vettori A, Trevisan CP, Bellini S, Vazza G, Armani M, Simonati A, Mostacciuolo ML. Zortea M, et al. Among authors: vazza g. J Med Genet. 2002 Jun;39(6):387-90. doi: 10.1136/jmg.39.6.387. J Med Genet. 2002. PMID: 12070243 Free PMC article.

5

Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28.

Vazza G, Picelli S, Bozzato A, Mostacciuolo ML. Vazza G, et al. Gene. 2003 Sep 18;314:113-20. doi: 10.1016/s0378-1119(03)00710-8. Gene. 2003. PMID: 14527723

6

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, Baschirotto C, Vazza G, Mostacciuolo ML, Daga A, Orso G, Profice P, Trabacca A, D'Angelo MG, Comi GP, Galbiati S, Lamperti C, Bonato S, Pandolfo M, Meola G, Musumeci O, Toscano A, Trevisan CP, Bresolin N, Bassi MT. Crippa F, et al. Among authors: vazza g. Arch Neurol. 2006 May;63(5):750-5. doi: 10.1001/archneur.63.5.750. Arch Neurol. 2006. PMID: 16682546

7

Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26.

Vazza G, Bertolin C, Scudellaro E, Vettori A, Boaretto F, Rampinelli S, De Sanctis G, Perini G, Peruzzi P, Mostacciuolo ML. Vazza G, et al. Mol Psychiatry. 2007 Jan;12(1):87-93. doi: 10.1038/sj.mp.4001895. Epub 2006 Sep 12. Mol Psychiatry. 2007. PMID: 16969366

8

A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.

Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo ML. Vazza G, et al. Neuromuscul Disord. 2006 Dec;16(12):878-81. doi: 10.1016/j.nmd.2006.09.002. Epub 2006 Oct 17. Neuromuscul Disord. 2006. PMID: 17052905

9

Familial epilepsy and developmental dysphasia: description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci.

Michelucci R, Scudellaro E, Testoni S, Passarelli D, Riguzzi P, Diani E, Vazza G, Vianello V, Scabar A, Mostacciuolo ML, Volpi L, Rubboli G, Pinardi F, Mancardi MM, Tassinari CA, Nobile C. Michelucci R, et al. Among authors: vazza g. Epilepsy Res. 2008 Jul;80(1):9-17. doi: 10.1016/j.eplepsyres.2008.03.014. Epub 2008 May 27. Epilepsy Res. 2008. PMID: 18508238

10

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample.

Mostacciuolo ML, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G, Galluzzi G, Trevisan CP. Mostacciuolo ML, et al. Among authors: vazza g. Clin Genet. 2009 Jun;75(6):550-5. doi: 10.1111/j.1399-0004.2009.01158.x. Epub 2009 Mar 23. Clin Genet. 2009. PMID: 19320656

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