GENOTYPE/PHENOTYPE CORRELATION IN MYOTONIC DYSTROPHY: RELATIONSHIP BETWEEN DMPK – DMAHP EXPRESSION AND DISEASE PROGRESSION
- 2 Anni 1998/2000
- 51.646€ Totale Fondi
Descrizione non disponibile
Pubblicazioni Scientifiche
- 2000-02-01 CLINICAL CHEMISTRY
Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma
- 1998-06-01 DIAGNOSTIC MOLECULAR PATHOLOGY
A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy
- 1999-06-01 HUMAN MOLECULAR GENETICS
Myotonic dystrophy:: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression
- 1998-04-01 ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES
Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients
- 1999-06-01 NEUROMUSCULAR DISORDERS
Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients
