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List of works by Claudio Catalli

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

scientific article published on 9 January 2014

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

scientific article

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

scientific article

Selective Pseudohypertrophy of Vastus Medialis Muscles Associated With Calpain 3 Deficiency

scientific article published on 01 September 2012

The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

scientific article published on 8 July 2008

Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).

scientific article published on 8 July 2010

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