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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
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1994 3
1996 1
2000 1
2001 1
2003 1
2004 2
2005 3
2006 5
2007 3
2008 4
2009 6
2010 2
2011 9
2012 11
2013 9
2014 16
2015 14
2016 12
2017 9
2018 10
2019 8
2020 13
2021 16
2022 10
2023 8
2024 4
2025 0

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168 results

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Page 1
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Zanetti A, et al. Among authors: tonin r. Hum Mutat. 2021 Nov;42(11):1384-1398. doi: 10.1002/humu.24270. Epub 2021 Aug 23. Hum Mutat. 2021. PMID: 34387910 Free PMC article. Review.
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Felicio PS, Grasel RS, Campacci N, de Paula AE, Galvão HCR, Torrezan GT, Sabato CS, Fernandes GC, Souza CP, Michelli RD, Andrade CE, Barros BDF, Matsushita MM, Revil T, Ragoussis J, Couch FJ, Hart SN, Reis RM, Melendez ME, Tonin PN, Carraro DM, Palmero EI. Felicio PS, et al. Among authors: tonin pn. Hum Mutat. 2021 Mar;42(3):290-299. doi: 10.1002/humu.24158. Epub 2020 Dec 28. Hum Mutat. 2021. PMID: 33326660 Free PMC article.
Rare and potentially pathogenic variants were identified in DNA repair genes (FAN1, POLQ, and RAD54L) and other cancer-related genes such as DROSHA and SLC34A2. Interestingly, the variant c.149T>G in the FAN1 gene was identified in two unrelated families, and exhibited …
Rare and potentially pathogenic variants were identified in DNA repair genes (FAN1, POLQ, and RAD54L) and other cancer-related genes such as …
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.
Bortolani S, Savarese M, Vattemi G, Bonanno S, Falzone YM, Pugliese A, Primiano G, Sancricca C, Lopergolo D, Greco G, Gemelli C, Ravaglia S, Bencivenga RP, Velardo D, Magri F, Valentino ML, Cheli M, Torchia E, Lucchini M, Petrucci A, Ricci G, Garibaldi M, Astrea G, Rubegni A, Angelini CI, Ariatti A, Santorelli FM, Ruggieri A, Antonini G, Siciliano G, Filosto M, Mirabella M, Liguori R, Comi GP, Ruggiero L, Grandis M, Massa R, Malandrini A, Servidei S, Mongini TE, Rodolico C, Toscano A, Previtali SC, Tonin P, Diaz-Manera J, Monforte M, Ricci E, Maggi L, Tasca G. Bortolani S, et al. Among authors: tonin p. Neurology. 2024 Aug 27;103(4):e209697. doi: 10.1212/WNL.0000000000209697. Epub 2024 Aug 5. Neurology. 2024. PMID: 39102614
Combination of anti-CGRP/CGRP-R mAbs with onabotulinumtoxin A as a novel therapeutic approach for refractory chronic migraine: a retrospective study of real-world clinical evidence and a protocol for a double-blind, randomized clinical trial to establish the efficacy and safety.
Corasaniti MT, Lawrence GW, Bagetta G, Iannacchero R, Tarsitano A, Monteleone A, Pagliaro M, Tonin P, Sandrini G, Nicotera P, Scuteri D. Corasaniti MT, et al. Among authors: tonin p. Front Pharmacol. 2023 Dec 13;14:1296577. doi: 10.3389/fphar.2023.1296577. eCollection 2023. Front Pharmacol. 2023. PMID: 38152694 Free PMC article.
Neuropathology of mitochondrial diseases.
Filosto M, Tomelleri G, Tonin P, Scarpelli M, Vattemi G, Rizzuto N, Padovani A, Simonati A. Filosto M, et al. Among authors: tonin p. Biosci Rep. 2007 Jun;27(1-3):23-30. doi: 10.1007/s10540-007-9034-3. Biosci Rep. 2007. PMID: 17541738 Review.
Muscle can be the only affected tissue or involved as a part of a multi-system disease; ragged red fibers, accumulation of structurally altered mitochondria and cytochrome-c-oxidase (COX) negative fibers are the main pathological features. In mitochondrial encephalopathies …
Muscle can be the only affected tissue or involved as a part of a multi-system disease; ragged red fibers, accumulation of structurally alte …
Descemet Membrane Endothelial Keratoplasty in Children.
Pereira NC, Pereira Gomes JÁ, Tonin C, Verardo FO, Felippe RS, Dos Santos Forseto A. Pereira NC, et al. Among authors: tonin c. Cornea. 2021 Apr;40(4):453-457. doi: 10.1097/ICO.0000000000002540. Cornea. 2021. PMID: 32947400
METHODS: This is a single-center retrospective study, including 11 eyes (7 congenital hereditary endothelial dystrophy and 4 congenital glaucoma) of 6 children in amblyopic age undergoing DMEK by a single surgeon (N.C.P.) at Sorocaba Eye Hospital from December 2015 to Nove …
METHODS: This is a single-center retrospective study, including 11 eyes (7 congenital hereditary endothelial dystrophy and 4 congenital glau …
Safety of interferon-free therapies for chronic hepatitis C: a network meta-analysis.
Ferreira VL, Assis Jarek NA, Tonin FS, Borba HH, Wiens A, Pontarolo R. Ferreira VL, et al. Among authors: tonin fs. J Clin Pharm Ther. 2016 Oct;41(5):478-85. doi: 10.1111/jcpt.12426. Epub 2016 Jul 21. J Clin Pharm Ther. 2016. PMID: 27440554 Review.
WHAT IS KNOWN AND OBJECTIVE: Interferon-free (IFN-free) therapies for hepatitis C virus (HCV) have been developed to provide more effective, tolerable and safer therapeutic strategies. ...This systematic review and NMA aimed to evaluate safety outcomes of IFN-free treatmen …
WHAT IS KNOWN AND OBJECTIVE: Interferon-free (IFN-free) therapies for hepatitis C virus (HCV) have been developed to provide more eff …
Galactosialidosis: review and analysis of CTSA gene mutations.
Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R, d'Azzo A, Morrone A. Caciotti A, et al. Among authors: tonin r. Orphanet J Rare Dis. 2013 Aug 2;8:114. doi: 10.1186/1750-1172-8-114. Orphanet J Rare Dis. 2013. PMID: 23915561 Free PMC article. Review.
We identified three novel nucleotide changes, two of them resulting in the missense mutations, c.347A>G (p.His116Arg), c.775T>C (p.Cys259Arg), and the third, c.1216C>T, resulting in the p.Gln406* stop codon, a type of mutation identified for t …
We identified three novel nucleotide changes, two of them resulting in the missense mutations, c.347A>G (p.His116Arg), c.77 …
Opioids in Post-stroke Pain: A Systematic Review and Meta-Analysis.
Scuteri D, Mantovani E, Tamburin S, Sandrini G, Corasaniti MT, Bagetta G, Tonin P. Scuteri D, et al. Among authors: tonin p. Front Pharmacol. 2020 Nov 27;11:587050. doi: 10.3389/fphar.2020.587050. eCollection 2020. Front Pharmacol. 2020. PMID: 33424596 Free PMC article. Review.
168 results