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

Year Number of Results
2002 2
2003 2
2004 5
2005 6
2006 3
2007 8
2008 9
2009 6
2010 6
2011 10
2012 17
2013 9
2014 20
2015 14
2016 10
2017 15
2018 12
2019 5
2020 8
2021 8
2022 5
2023 1
2024 0

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146 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.
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.
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.
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.
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.
Physiology and pathology of notch signalling system.
Bianchi S, Dotti MT, Federico A. Bianchi S, et al. Among authors: dotti mt. J Cell Physiol. 2006 May;207(2):300-8. doi: 10.1002/jcp.20542. J Cell Physiol. 2006. PMID: 16270334 Review.
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.
Di Donato I, Bianchi S, De Stefano N, Dichgans M, Dotti MT, Duering M, Jouvent E, Korczyn AD, Lesnik-Oberstein SA, Malandrini A, Markus HS, Pantoni L, Penco S, Rufa A, Sinanović O, Stojanov D, Federico A. Di Donato I, et al. Among authors: dotti mt. BMC Med. 2017 Feb 24;15(1):41. doi: 10.1186/s12916-017-0778-8. BMC Med. 2017. PMID: 28231783 Free PMC article. Review.
146 results