Irene De Biase

Author PubWeight™ 10.61^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	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.	Hum Genet	2006	1.20
2	Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2.	J Cell Sci	2005	1.03
3	Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.	Nucleic Acids Res	2006	0.98
4	Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles.	Ann Neurol	2004	0.96
5	Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.	PLoS One	2012	0.90
6	Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells.	Hum Mol Genet	2002	0.87
7	Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population.	Mov Disord	2007	0.84
8	Identification of a novel transcript of X25, the human gene involved in Friedreich ataxia.	Neurosci Lett	2002	0.83
9	Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease.	BMC Med Genet	2010	0.78
10	3-Nitropropionic acid increases frataxin expression in human lymphoblasts and in transgenic rat PC12 cells.	Neurosci Lett	2003	0.77
11	New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.	Hum Genet	2004	0.77
12	Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.	Ann Neurol	2007	0.76