CLAUDIO
CATALLI
University of Rome Tor Vergata
Roma, ItaliaUniversity of Rome Tor Vergata-ko ikertzaileekin lankidetzan egindako argitalpenak (6)
2014
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A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation
Journal of Human Genetics, Vol. 59, Núm. 3, pp. 153-157
2012
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Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2
European Journal of Human Genetics, Vol. 20, Núm. 12, pp. 1203-1208
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Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency
Neurologist, Vol. 18, Núm. 5, pp. 306-309
2010
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Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2)
Journal of Molecular Diagnostics, Vol. 12, Núm. 5, pp. 601-606
2008
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Analysis of single nucleotide polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients
Acta Myologica, Vol. 27, Núm. DEC., pp. 82-89
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The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients
Journal of Medical Genetics, Vol. 45, Núm. 10, pp. 639-646