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

Year Number of Results
2002 1
2004 3
2005 1
2006 1
2007 2
2008 3
2009 2
2012 3
2013 1
2016 1
2017 3
2018 3
2019 4
2020 3
2021 2
2022 1
2024 0

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26 results

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Page 1
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.
Lo Vecchio F, Tabolacci E, Nobile V, Pomponi MG, Pietrobono R, Neri G, Amenta S, Candida E, Grippaudo C, Lo Cascio E, Vita A, Tiberio F, Arcovito A, Lattanzi W, Genuardi M, Chiurazzi P. Lo Vecchio F, et al. Among authors: pomponi mg. Genes (Basel). 2022 Jun 27;13(7):1161. doi: 10.3390/genes13071161. Genes (Basel). 2022. PMID: 35885943 Free PMC article.
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2.
Rossi S, Romano A, Modoni A, Perna F, Rizzo V, Santoro M, Monforte M, Pieroni M, Luigetti M, Pomponi MG, Silvestri G. Rossi S, et al. Among authors: pomponi mg. Eur Neurol. 2018;79(3-4):166-170. doi: 10.1159/000487508. Epub 2018 Mar 13. Eur Neurol. 2018. PMID: 29533949
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.
Santoro M, Perna A, La Rosa P, Petrillo S, Piemonte F, Rossi S, Riso V, Nicoletti TF, Modoni A, Pomponi MG, Chiurazzi P, Silvestri G. Santoro M, et al. Among authors: pomponi mg. Neurogenetics. 2020 Oct;21(4):279-287. doi: 10.1007/s10048-020-00620-7. Epub 2020 Jul 7. Neurogenetics. 2020. PMID: 32638185
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience.
Riso V, Rossi S, Nicoletti TF, Tessa A, Travaglini L, Zanni G, Aiello C, Perna A, Barghigiani M, Pomponi MG, Santorelli FM, Silvestri G. Riso V, et al. Among authors: pomponi mg. Brain Sci. 2021 Feb 16;11(2):246. doi: 10.3390/brainsci11020246. Brain Sci. 2021. PMID: 33669240 Free PMC article.
26 results