Fattori F - Search Results

1

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E. Sferra A, et al. Among authors: fattori f. Hum Mol Genet. 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096. Hum Mol Genet. 2018. PMID: 29547997

2

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy.

Cassandrini D, Calevo MG, Tessa A, Manfredi G, Fattori F, Meschini MC, Carrozzo R, Tonoli E, Pedemonte M, Minetti C, Zara F, Santorelli FM, Bruno C. Cassandrini D, et al. Among authors: fattori f. Biochem Biophys Res Commun. 2006 Apr 7;342(2):387-93. doi: 10.1016/j.bbrc.2006.01.152. Epub 2006 Feb 8. Biochem Biophys Res Commun. 2006. PMID: 16483543

3

Infantile mitochondrial disorders.

Carrozzo R, Piemonte F, Tessa A, Lucioli S, Rizza T, Meschini MC, Fattori F, Santorelli FM. Carrozzo R, et al. Among authors: fattori f. Biosci Rep. 2007 Jun;27(1-3):105-12. doi: 10.1007/s10540-007-9039-y. Biosci Rep. 2007. PMID: 17486440 Review.

4

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.

Tuppen HA, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM, Taylor RW. Tuppen HA, et al. Among authors: fattori f. J Med Genet. 2008 Jan;45(1):55-61. doi: 10.1136/jmg.2007.051185. J Med Genet. 2008. PMID: 18178636

5

A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.

Masciullo M, Modoni A, Fattori F, Santoro M, Denora PS, Tonali P, Santorelli FM, Silvestri G. Masciullo M, et al. Among authors: fattori f. J Neurol. 2008 Sep;255(9):1429-31. doi: 10.1007/s00415-008-0936-1. Epub 2008 Jul 11. J Neurol. 2008. PMID: 18604465 No abstract available.

6

Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.

Bruno C, Cassandrini D, Fattori F, Pedemonte M, Fiorillo C, Brigati G, Brisca G, Minetti C, Santorelli FM. Bruno C, et al. Among authors: fattori f. Biochem Biophys Res Commun. 2011 Sep 9;412(4):518-21. doi: 10.1016/j.bbrc.2011.06.155. Epub 2011 Jun 29. Biochem Biophys Res Commun. 2011. PMID: 21741368

7

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. Cassandrini D, et al. Among authors: fattori f. J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8. J Inherit Metab Dis. 2013. PMID: 22569581

8

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.

Prodi E, Grisoli M, Panzeri M, Minati L, Fattori F, Erbetta A, Uziel G, D'Arrigo S, Tessa A, Ciano C, Santorelli FM, Savoiardo M, Mariotti C. Prodi E, et al. Among authors: fattori f. Eur J Neurol. 2013 Jan;20(1):138-46. doi: 10.1111/j.1468-1331.2012.03815.x. Epub 2012 Jul 21. Eur J Neurol. 2013. PMID: 22816526

9

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

Ciccolella M, Catteruccia M, Benedetti S, Moroni I, Uziel G, Pantaleoni C, Chiapparini L, Bizzi A, D'Amico A, Fattori F, Salsano ML, Pastore A, Tozzi G, Piemonte F, Bertini E. Ciccolella M, et al. Among authors: fattori f. Neuromuscul Disord. 2012 Dec;22(12):1075-82. doi: 10.1016/j.nmd.2012.05.007. Epub 2012 Jul 21. Neuromuscul Disord. 2012. PMID: 22824638

10

A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene.

Callea M, Fattori F, Yavuz I, Bertini E. Callea M, et al. Among authors: fattori f. BMJ Case Rep. 2012 Dec 5;2012:bcr1220115422. doi: 10.1136/bcr-12-2011-5422. BMJ Case Rep. 2012. PMID: 23220435 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

78 results

Search Page