Salviati A - Search Results

1

Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture.

Grosso V, Marcolungo L, Maestri S, Alfano M, Lavezzari D, Iadarola B, Salviati A, Mariotti B, Botta A, D'Apice MR, Novelli G, Delledonne M, Rossato M. Grosso V, et al. Among authors: salviati a. Front Genet. 2021 Sep 27;12:743230. doi: 10.3389/fgene.2021.743230. eCollection 2021. Front Genet. 2021. PMID: 34646309 Free PMC article.

2

Whole-exome sequencing of the mummified remains of Cangrande della Scala (1291-1329 CE) indicates the first known case of late-onset Pompe disease.

Iadarola B, Lavezzari D, Modi A, Degli Esposti C, Beltrami C, Rossato M, Zaro V, Napione E, Latella L, Lari M, Caramelli D, Salviati A, Delledonne M. Iadarola B, et al. Among authors: salviati a. Sci Rep. 2021 Oct 26;11(1):21070. doi: 10.1038/s41598-021-00559-1. Sci Rep. 2021. PMID: 34702906 Free PMC article.

3

Natural history of motor neuron disease in adult onset GM2-gangliosidosis: A case report with 25 years of follow-up.

Scarpelli M, Tomelleri G, Bertolasi L, Salviati A. Scarpelli M, et al. Among authors: salviati a. Mol Genet Metab Rep. 2014 Jul 2;1:269-272. doi: 10.1016/j.ymgmr.2014.06.002. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896099 Free PMC article.

4

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: salviati a. Hum Genet. 1995 Oct;96(4):417-22. doi: 10.1007/BF00191799. Hum Genet. 1995. PMID: 7557963

5

Anti-N-methyl-d-aspartate receptor encephalitis causing a prolonged depressive disorder evolving to inflammatory brain disease.

Mariotto S, Tamburin S, Salviati A, Ferrari S, Zoccarato M, Giometto B, Bertolasi L, Alessandrini F, Benedetti MD, Monaco S. Mariotto S, et al. Among authors: salviati a. Case Rep Neurol. 2014 Feb 8;6(1):38-43. doi: 10.1159/000358820. eCollection 2014 Jan. Case Rep Neurol. 2014. PMID: 24707266 Free PMC article.

6

Aortic and Mitral Valve Involvement in Maroteaux-Lamy Syndrome VI: Surgical Implications in the Enzyme Replacement Therapy Era.

Torre S, Scarpelli M, Salviati A, Buffone E, Faggian G, Luciani GB. Torre S, et al. Among authors: salviati a. Ann Thorac Surg. 2016 Jul;102(1):e23-5. doi: 10.1016/j.athoracsur.2015.11.062. Ann Thorac Surg. 2016. PMID: 27343522

7

Mitochondrial DNA haplogroups may influence Fabry disease phenotype.

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, Mancuso M. Simoncini C, et al. Among authors: salviati a. Neurosci Lett. 2016 Aug 26;629:58-61. doi: 10.1016/j.neulet.2016.06.051. Epub 2016 Jun 27. Neurosci Lett. 2016. PMID: 27365132

8

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.

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, Parini R, Pavone FS, Guerrini R, Calamai M, Morrone A. Tonin R, et al. Among authors: salviati a. Sci Rep. 2019 Nov 27;9(1):17684. doi: 10.1038/s41598-019-53995-5. Sci Rep. 2019. PMID: 31776384 Free PMC article.

9

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: salviati a. Hum Mutat. 1995;6(3):260-2. doi: 10.1002/humu.1380060313. Hum Mutat. 1995. PMID: 8535449 No abstract available.

10

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: salviati a. Am J Med Genet. 1998 Jan 23;75(3):330-3. Am J Med Genet. 1998. PMID: 9475608 No abstract available.

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