GENOTYPE/PHENOTYPE CORRELATION IN MYOTONIC DYSTROPHY: RELATIONSHIP BETWEEN DMPK – DMAHP EXPRESSION AND DISEASE PROGRESSION

Pubblicazioni Scientifiche

• CLINICAL CHEMISTRY

  Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma

• DIAGNOSTIC MOLECULAR PATHOLOGY

  A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy

• HUMAN MOLECULAR GENETICS

  Myotonic dystrophy:: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression

• ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES

  Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients

• NEUROMUSCULAR DISORDERS

  Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients