Publications
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“Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients”, vol. 12, pp. 1176-1181, 2013.
, , Babovic-Vuksanovic D, Snow K, Patterson MC and Michels VV (1998). Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. Am. J. Med. Genet. 79: 383-387.
http://dx.doi.org/10.1002/(SICI)1096-8628(19981012)79:5<383::AID-AJMG10>3.0.CO;2-N
Cagnoli C, Stevanin G, Michielotto C, Gerbino PG, et al. (2006). Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay. J. Mol. Diagn. 8: 128-132.
http://dx.doi.org/10.2353/jmoldx.2006.050043
PMid:16436644 PMCid:1867568
Calì F, Ruggeri G, Vinci M, Meli C, et al. (2010). Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics. Exp. Mol. Med. 42: 81-86.
http://dx.doi.org/10.3858/emm.2010.42.2.009
PMid:19946181 PMCid:2827832
Mao R, Aylsworth AS, Potter N, Wilson WG, et al. (2002). Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Am. J. Med. Genet. 110: 338-345.
http://dx.doi.org/10.1002/ajmg.10467
PMid:12116207
Moretti P, Blazo M, Garcia L, Armstrong D, et al. (2004). Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy. Am. J. Med. Genet. A 124A: 392-396.
http://dx.doi.org/10.1002/ajmg.a.20428
PMid:14735588
Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, et al. (1996). Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat. Genet. 14: 269-276.
http://dx.doi.org/10.1038/ng1196-269
PMid:8896555
Richards RI (2001). Dynamic mutations: a decade of unstable expanded repeats in human genetic disease. Hum. Mol. Genet. 10: 2187-2194.
http://dx.doi.org/10.1093/hmg/10.20.2187
PMid:11673400
Rowland JS, Barton DE and Taylor GR (2001). A comparison of methods for gene dosage analysis in HMSN type 1. J. Med. Genet. 38: 90-95.
http://dx.doi.org/10.1136/jmg.38.2.90
PMid:11158172 PMCid:1734813
Saugier-Veber P, Drouot N, Lefebvre S, Charbonnier F, et al. (2001). Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method. J. Med. Genet. 38: 240-243.
http://dx.doi.org/10.1136/jmg.38.4.240
PMid:11368028 PMCid:1734846
Schols L, Amoiridis G, Buttner T, Przuntek H, et al. (1997). Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann. Neurol. 42: 924-932.
http://dx.doi.org/10.1002/ana.410420615
PMid:9403486
Sequeiros J, Seneca S and Martindale J (2010). Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. Eur. J. Hum. Genet. 18: 1188-1195.
http://dx.doi.org/10.1038/ejhg.2010.10
PMid:20179748 PMCid:2987480
Sobczak K and Krzyzosiak WJ (2005). CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts. J. Biol. Chem. 280: 3898-3910.
http://dx.doi.org/10.1074/jbc.M409984200
PMid:15533937