| Year |
Citation |
Score |
| 2019 |
Tonin R, Caciotti A, Procopio E, Fischetto R, Deodato F, Mancardi MM, Di Rocco M, Ardissone A, Salviati A, Marangi A, Strisciuglio P, Mangone G, Casini A, Ricci S, Fiumara A, et al. Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content. Scientific Reports. 9: 17684. PMID 31776384 DOI: 10.1038/S41598-019-53995-5 |
0.31 |
|
| 2016 |
Simoncini C, Chico L, Concolino D, Sestito S, Fancellu L, Boadu W, Sechi GP, Feliciani C, Gnarra M, Zampetti A, Salviati A, Scarpelli M, Orsucci D, Bonuccelli U, Siciliano G, et al. Mitochondrial DNA haplogroups may influence Fabry disease phenotype Neuroscience Letters. 629: 58-61. PMID 27365132 DOI: 10.1016/J.Neulet.2016.06.051 |
0.335 |
|
| 2014 |
Paraboschi EM, Rimoldi V, Soldà G, Tabaglio T, Dall'Osso C, Saba E, Vigliano M, Salviati A, Leone M, Benedetti MD, Fornasari D, Saarela J, De Jager PL, Patsopoulos NA, D'Alfonso S, et al. Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. Human Molecular Genetics. 23: 6746-61. PMID 25080502 DOI: 10.1093/Hmg/Ddu392 |
0.305 |
|
| 2014 |
Mariotto S, Tamburin S, Salviati A, Ferrari S, Zoccarato M, Giometto B, Bertolasi L, Alessandrini F, Benedetti MD, Monaco S. Anti-N-methyl-d-aspartate receptor encephalitis causing a prolonged depressive disorder evolving to inflammatory brain disease. Case Reports in Neurology. 6: 38-43. PMID 24707266 DOI: 10.1159/000358820 |
0.304 |
|
| 2013 |
Barizzone N, Pauwels I, Luciano B, Franckaert D, Guerini FR, Cosemans L, Hilven K, Salviati A, Dooley J, Danso-Abeam D, di Sapio A, Cavalla P, Decallonne B, Mathieu C, Liston A, et al. No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis. Annals of Neurology. 73: 433-7. PMID 23483640 DOI: 10.1002/Ana.23834 |
0.358 |
|
| 2013 |
Gajofatto A, Stefani A, Turatti M, Bianchi MR, Lira MG, Moretto G, Salviati A, Benedetti MD. Prevalence of multiple sclerosis in Verona, Italy: an epidemiological and genetic study. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 20: 697-703. PMID 23279712 DOI: 10.1111/Ene.12045 |
0.304 |
|
| 2011 |
Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, et al. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochimica Et Biophysica Acta. 1812: 782-90. PMID 21497194 DOI: 10.1016/J.Bbadis.2011.03.018 |
0.382 |
|
| 2010 |
Salviati A, Burlina AP, Borsini W. Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 31: 299-306. PMID 20300794 DOI: 10.1007/S10072-009-0211-Y |
0.323 |
|
| 2008 |
Invernizzi P, Bonometti MA, Turri E, Benedetti MD, Salviati A. A case of Fabry disease with central nervous system (CNS) demyelinating lesions: a double trouble? Multiple Sclerosis (Houndmills, Basingstoke, England). 14: 1003-6. PMID 18632784 DOI: 10.1177/1352458508092355 |
0.323 |
|
| 2007 |
Mazzola S, Lira MG, Benedetti MD, Salviati A, Ottaviani S, Malerba G, Ortombina M, Pignatti PF. COX-2 promoter region polymorphisms in multiple sclerosis: lack of association of -765G>C with disease risk. International Journal of Immunogenetics. 34: 71-4. PMID 17373929 DOI: 10.1111/J.1744-313X.2007.00675.X |
0.327 |
|
| 2004 |
Mancuso M, Conforti FL, Rocchi A, Tessitore A, Muglia M, Tedeschi G, Panza D, Monsurrò M, Sola P, Mandrioli J, Choub A, DelCorona A, Manca ML, Mazzei R, Sprovieri T, ... ... Salviati A, et al. Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? Neuroscience Letters. 371: 158-62. PMID 15519748 DOI: 10.1016/J.Neulet.2004.08.060 |
0.323 |
|
| 2003 |
Gomez-Lira M, Liguori M, Magnani C, Bonamini D, Salviati A, Leone M, Andreoli V, Trojano M, Valentino P, Savettieri G, Quattrone A, Pignatti PF, Momigliano-Richiardi P, Giordano M. CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers. Journal of Neuroimmunology. 140: 216-21. PMID 12864992 DOI: 10.1016/S0165-5728(03)00208-X |
0.342 |
|
| 2002 |
Gomez-Lira M, Moretto G, Bonamini D, Benedetti MD, Pignatti PF, Rizzuto N, Salviati A. Myelin oligodendrocyte glycoprotein polymorphisms and multiple sclerosis. Journal of Neuroimmunology. 133: 241-3. PMID 12446029 DOI: 10.1016/S0165-5728(02)00361-2 |
0.333 |
|
| 2001 |
Gomez-Lira M, Mottes M, Perusi C, Pignatti PF, Rizzuto N, Gatti R, Salviati A. A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease. Molecular and Cellular Probes. 15: 75-9. PMID 11292324 DOI: 10.1006/Mcpr.2000.0342 |
0.377 |
|
| 2000 |
Gomez-Lira M, Marzari MG, Uziel G, Pignatti P, Rizzuto N, Salviati A. Myelin oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophy. Journal of Neuroimmunology. 111: 245-7. PMID 11063846 DOI: 10.1016/S0165-5728(00)00367-2 |
0.33 |
|
| 2000 |
Lira MG, Mottes M, Pignatti PF, Medica I, Uziel G, Cappa M, Bertini E, Rizzuto N, Salviati A. Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations. Human Mutation. 16: 271. PMID 10980539 DOI: 10.1002/1098-1004(200009)16:3<271::Aid-Humu15>3.0.Co;2-D |
0.34 |
|
| 1999 |
Gomez-Lira M, Perusi C, Mottes M, Pignatti PF, Uziel G, Rizzuto N, Salviati A. Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients. Journal of the Neurological Sciences. 165: 62-5. PMID 10426149 DOI: 10.1016/S0022-510X(99)00074-X |
0.374 |
|
| 1999 |
Perusi C, Gomez-Lira M, Mottes M, Pignatti PF, Bertini E, Cappa M, Vigliani MC, Schiffer D, Rizzuto N, Salviati A. Two novel missense mutations causing adrenoleukodystrophy in Italian patients. Molecular and Cellular Probes. 13: 179-82. PMID 10369742 DOI: 10.1006/Mcpr.1999.0232 |
0.329 |
|
| 1999 |
Perusi C, Lira MG, Duyff RF, Weinstein HC, Pignatti PF, Rizzuto N, Salviati A. Mutations associated with very late-onset metachromatic leukodystrophy. Clinical Genetics. 55: 130. PMID 10189092 DOI: 10.1034/J.1399-0004.1999.550211.X |
0.333 |
|
| 1998 |
Gomez-Lira M, Perusi C, Mottes M, Pignatti PF, Manfredi M, Rizzuto N, Salviati A. Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation. Human Genetics. 102: 459-63. PMID 9600244 DOI: 10.1007/S004390050721 |
0.393 |
|
| 1998 |
Gomez-Lira M, Perusi C, Mottes M, Pignatti PF, Rizzuto N, Gatti R, Salviati A. Splicing mutation causes infantile Sandhoff disease. American Journal of Medical Genetics. 75: 330-3. PMID 9475608 DOI: 10.1002/(Sici)1096-8628(19980123)75:3<330::Aid-Ajmg21>3.0.Co;2-P |
0.376 |
|
| 1997 |
Perusi C, Gomez-Lira M, Mottes M, Pignatti PF, Rizzuto N, Salviati A. A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene. Molecular and Cellular Probes. 11: 449-51. PMID 9500813 DOI: 10.1006/Mcpr.1997.0138 |
0.347 |
|
| 1995 |
Gomez-Lira M, Perusi C, Brutti N, Farnetani MA, Margollicci MA, Rizzuto N, Pignatti PF, Salviati A. A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease. Human Mutation. 6: 260-2. PMID 8535449 DOI: 10.1002/Humu.1380060313 |
0.336 |
|
| 1995 |
Gomez-Lira M, Sangalli A, Mottes M, Perusi C, Pignatti PF, Rizzuto N, Salviati A. A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. Human Genetics. 96: 417-22. PMID 7557963 DOI: 10.1007/Bf00191799 |
0.376 |
|
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