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

Year Number of Results
1980 2
1985 1
1986 1
1987 1
1988 5
1989 2
1990 3
1991 3
1992 2
1993 5
1994 6
1995 5
1996 6
1997 4
1998 8
1999 7
2000 7
2001 8
2002 6
2003 7
2004 11
2005 17
2006 15
2007 19
2008 18
2009 8
2010 12
2011 14
2012 21
2013 13
2014 24
2015 19
2016 12
2017 20
2018 16
2019 7
2020 10
2021 8
2022 5
2023 1
2024 1
2025 0

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315 results

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Page 1
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Caputi C, Cioffi E, De Michele G, Dotti MT, Fico T, Fiorillo C, Galosi S, Lieto M, Malandrini A, Melone MAB, Mignarri A, Natale G, Pegoraro E, Petrucci A, Ricca I, Riso V, Rossi S, Rubegni A, Scarlatti A, Tinelli F, Trovato R, Tedeschi G, Tessa A, Filla A, Santorelli FM. Galatolo D, et al. Among authors: dotti mt. Int J Mol Sci. 2021 Aug 6;22(16):8490. doi: 10.3390/ijms22168490. Int J Mol Sci. 2021. PMID: 34445196 Free PMC article.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M. Hirano M, et al. Among authors: dotti mt. J Inherit Metab Dis. 2021 Mar;44(2):376-387. doi: 10.1002/jimd.12300. Epub 2020 Sep 8. J Inherit Metab Dis. 2021. PMID: 32898308 Free PMC article. Review.
Pregnancy in CADASIL.
Donnini I, Rinnoci V, Nannucci S, Valenti R, Pescini F, Mariani G, Bianchi S, Dotti MT, Federico A, Inzitari D, Pantoni L. Donnini I, et al. Among authors: dotti mt. Acta Neurol Scand. 2017 Dec;136(6):668-671. doi: 10.1111/ane.12784. Epub 2017 Jun 12. Acta Neurol Scand. 2017. PMID: 28608406
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
Eye movement changes in autosomal dominant spinocerebellar ataxias.
Rosini F, Pretegiani E, Battisti C, Dotti MT, Federico A, Rufa A. Rosini F, et al. Among authors: dotti mt. Neurol Sci. 2020 Jul;41(7):1719-1734. doi: 10.1007/s10072-020-04318-4. Epub 2020 Mar 4. Neurol Sci. 2020. PMID: 32130555 Review.
Hereditary cerebral small vessel diseases: a review.
Federico A, Di Donato I, Bianchi S, Di Palma C, Taglia I, Dotti MT. Federico A, et al. Among authors: dotti mt. J Neurol Sci. 2012 Nov 15;322(1-2):25-30. doi: 10.1016/j.jns.2012.07.041. Epub 2012 Aug 4. J Neurol Sci. 2012. PMID: 22868088 Review.
Genetic leukoencephalopathies with unknown metabolic pathogenesis.
Federico A, Rufa A, Battisti C, Bianchi S, Cardaioli E, Da Pozzo P, De Stefano N, Formichi P, Sicurelli F, Dotti MT. Federico A, et al. Among authors: dotti mt. Neurol Sci. 2001 Nov;22 Suppl 2:S108-12. doi: 10.1007/s100720100046. Neurol Sci. 2001. PMID: 11794472 Review.
Cerebrotendinous xanthomatosis.
Federico A, Dotti MT. Federico A, et al. Among authors: dotti mt. Neurology. 2001 Nov 13;57(9):1743. doi: 10.1212/wnl.57.9.1743. Neurology. 2001. PMID: 11706139 No abstract available.
The spectrum of mutations for CADASIL diagnosis.
Federico A, Bianchi S, Dotti MT. Federico A, et al. Among authors: dotti mt. Neurol Sci. 2005 Jun;26(2):117-24. doi: 10.1007/s10072-005-0444-3. Neurol Sci. 2005. PMID: 15995828 Review.
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, Berardinelli A, Bruno C, Bruno G, Comi GP, Donati MA, Dotti MT, Filosto M, Fiorillo C, Giannini F, Gigli GL, Grandis M, Lopergolo D, Magri F, Maioli MA, Malandrini A, Massa R, Matà S, Melani F, Messina S, Mignarri A, Moggio M, Pennisi EM, Pegoraro E, Ricci G, Sacchini M, Schenone A, Sampaolo S, Sciacco M, Siciliano G, Tasca G, Tonin P, Tupler R, Valente M, Volpi N, Cassandrini D, Santorelli FM. Dosi C, et al. Among authors: dotti mt. Genes (Basel). 2023 Jan 23;14(2):298. doi: 10.3390/genes14020298. Genes (Basel). 2023. PMID: 36833224 Free PMC article.
315 results