De Biase I - Search Results

1

Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.

De Biase I, Rasmussen A, Endres D, Al-Mahdawi S, Monticelli A, Cocozza S, Pook M, Bidichandani SI. De Biase I, et al. Ann Neurol. 2007 Jan;61(1):55-60. doi: 10.1002/ana.21052. Ann Neurol. 2007. PMID: 17262846

2

Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.

Rasmussen A, De Biase I, Fragoso-Benítez M, Macías-Flores MA, Yescas P, Ochoa A, Ashizawa T, Alonso ME, Bidichandani SI. Rasmussen A, et al. Among authors: de biase i. Ann Neurol. 2007 Jun;61(6):607-10. doi: 10.1002/ana.21139. Ann Neurol. 2007. PMID: 17474109

3

Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life.

De Biase I, Rasmussen A, Monticelli A, Al-Mahdawi S, Pook M, Cocozza S, Bidichandani SI. De Biase I, et al. Genomics. 2007 Jul;90(1):1-5. doi: 10.1016/j.ygeno.2007.04.001. Epub 2007 May 10. Genomics. 2007. PMID: 17498922 Free article.

4

Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription.

De Biase I, Chutake YK, Rindler PM, Bidichandani SI. De Biase I, et al. PLoS One. 2009 Nov 19;4(11):e7914. doi: 10.1371/journal.pone.0007914. PLoS One. 2009. PMID: 19956589 Free PMC article.

5

Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.

Bourn RL, De Biase I, Pinto RM, Sandi C, Al-Mahdawi S, Pook MA, Bidichandani SI. Bourn RL, et al. Among authors: de biase i. PLoS One. 2012;7(10):e47085. doi: 10.1371/journal.pone.0047085. Epub 2012 Oct 11. PLoS One. 2012. PMID: 23071719 Free PMC article.

6

Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles.

Sharma R, De Biase I, Gómez M, Delatycki MB, Ashizawa T, Bidichandani SI. Sharma R, et al. Among authors: de biase i. Ann Neurol. 2004 Dec;56(6):898-901. doi: 10.1002/ana.20333. Ann Neurol. 2004. PMID: 15562408

7

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model.

Clark RM, De Biase I, Malykhina AP, Al-Mahdawi S, Pook M, Bidichandani SI. Clark RM, et al. Among authors: de biase i. Hum Genet. 2007 Jan;120(5):633-40. doi: 10.1007/s00439-006-0249-3. Epub 2006 Sep 21. Hum Genet. 2007. PMID: 17024371

8

Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.

M Rindler P, Clark RM, Pollard LM, De Biase I, Bidichandani SI. M Rindler P, et al. Among authors: de biase i. Nucleic Acids Res. 2006;34(21):6352-61. doi: 10.1093/nar/gkl846. Epub 2006 Nov 16. Nucleic Acids Res. 2006. PMID: 17142224 Free PMC article.

9

Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.

Pianese L, Turano M, Lo Casale MS, De Biase I, Giacchetti M, Monticelli A, Criscuolo C, Filla A, Cocozza S. Pianese L, et al. Among authors: de biase i. J Neurol Neurosurg Psychiatry. 2004 Jul;75(7):1061-3. doi: 10.1136/jnnp.2003.028605. J Neurol Neurosurg Psychiatry. 2004. PMID: 15201375 Free PMC article.

10

Identification of a novel transcript of X25, the human gene involved in Friedreich ataxia.

Pianese L, Tammaro A, Turano M, De Biase I, Monticelli A, Cocozza S. Pianese L, et al. Among authors: de biase i. Neurosci Lett. 2002 Mar 8;320(3):137-40. doi: 10.1016/s0304-3940(02)00048-4. Neurosci Lett. 2002. PMID: 11852181

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