Pignatti PF - Search Results

1

Myelin oligodendrocyte glycoprotein polymorphisms and multiple sclerosis.

Gomez-Lira M, Moretto G, Bonamini D, Benedetti MD, Pignatti PF, Rizzuto N, Salviati A. Gomez-Lira M, et al. Among authors: pignatti pf. J Neuroimmunol. 2002 Dec;133(1-2):241-3. doi: 10.1016/s0165-5728(02)00361-2. J Neuroimmunol. 2002. PMID: 12446029

2

COX-2 promoter region polymorphisms in multiple sclerosis: lack of association of -765G>C with disease risk.

Mazzola S, Lira MG, Benedetti MD, Salviati A, Ottaviani S, Malerba G, Ortombina M, Pignatti PF. Mazzola S, et al. Among authors: pignatti pf. Int J Immunogenet. 2007 Apr;34(2):71-4. doi: 10.1111/j.1744-313X.2007.00675.x. Int J Immunogenet. 2007. PMID: 17373929

3

Myelin oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophy.

Gomez-Lira M, Marzari MG, Uziel G, Pignatti P, Rizzuto N, Salviati A. Gomez-Lira M, et al. J Neuroimmunol. 2000 Nov 1;111(1-2):245-7. doi: 10.1016/s0165-5728(00)00367-2. J Neuroimmunol. 2000. PMID: 11063846

4

A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene.

Perusi C, Gomez-Lira M, Mottes M, Pignatti PF, Rizzuto N, Salviati A. Perusi C, et al. Among authors: pignatti pf. Mol Cell Probes. 1997 Dec;11(6):449-51. doi: 10.1006/mcpr.1997.0138. Mol Cell Probes. 1997. PMID: 9500813

5

A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.

Gomez-Lira M, Sangalli A, Mottes M, Perusi C, Pignatti PF, Rizzuto N, Salviati A. Gomez-Lira M, et al. Among authors: pignatti pf. Hum Genet. 1995 Oct;96(4):417-22. doi: 10.1007/BF00191799. Hum Genet. 1995. PMID: 7557963

6

A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease.

Gomez-Lira M, Perusi C, Brutti N, Farnetani MA, Margollicci MA, Rizzuto N, Pignatti PF, Salviati A. Gomez-Lira M, et al. Among authors: pignatti pf. Hum Mutat. 1995;6(3):260-2. doi: 10.1002/humu.1380060313. Hum Mutat. 1995. PMID: 8535449 No abstract available.

7

Splicing mutation causes infantile Sandhoff disease.

Gomez-Lira M, Perusi C, Mottes M, Pignatti PF, Rizzuto N, Gatti R, Salviati A. Gomez-Lira M, et al. Among authors: pignatti pf. Am J Med Genet. 1998 Jan 23;75(3):330-3. Am J Med Genet. 1998. PMID: 9475608 No abstract available.

8

Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation.

Gomez-Lira M, Perusi C, Mottes M, Pignatti PF, Manfredi M, Rizzuto N, Salviati A. Gomez-Lira M, et al. Among authors: pignatti pf. Hum Genet. 1998 Apr;102(4):459-63. doi: 10.1007/s004390050721. Hum Genet. 1998. PMID: 9600244

9

Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients.

Gomez-Lira M, Perusi C, Mottes M, Pignatti PF, Uziel G, Rizzuto N, Salviati A. Gomez-Lira M, et al. Among authors: pignatti pf. J Neurol Sci. 1999 May 1;165(1):62-5. doi: 10.1016/s0022-510x(99)00074-x. J Neurol Sci. 1999. PMID: 10426149

10

A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease.

Gomez-Lira M, Mottes M, Perusi C, Pignatti PF, Rizzuto N, Gatti R, Salviati A. Gomez-Lira M, et al. Among authors: pignatti pf. Mol Cell Probes. 2001 Apr;15(2):75-9. doi: 10.1006/mcpr.2000.0342. Mol Cell Probes. 2001. PMID: 11292324

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