MOLECULAR STUDY OF THE MYOTONIC DYSTROPHY GENE. LINKAGE ANALYSIS AND SEARCH FOR A CANDIDATE GENE

Pubblicazioni Scientifiche

• 1994 AMERICAN JOURNAL OF HUMAN GENETICS

  CHARACTERISTICS OF INTERGENERATIONAL CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY

• 1994 HUMAN MUTATION

  NORTH EURASIAN ORIGIN OF THE MYOTONIC-DYSTROPHY MUTATION

• 1993 CELL BIOCHEMISTRY AND FUNCTION

  ISOLATION AND CLONING BY A POLYMERASE CHAIN-REACTION OF A GENOMIC DNA FRAGMENT OF THE HUMAN SLOW SKELETAL TROPONIN (TNNT1) GENE

• 1992 HUMAN GENETICS

  ASSIGNMENT OF THE SLOW TROPONIN-T (TNNT1) GENE TO CHROMOSOME-19 USING POLYMERASE CHAIN-REACTION

• 1993 BIOCHEMISTRY AND MOLECULAR BIOLOGY INTERNATIONAL

  FAILURE IN DETECTING MESSENGER-RNA TRANSCRIPTS FROM THE MUTATED ALLELE IN MYOTONIC-DYSTROPHY MUSCLE

• 1992 JOURNAL OF MEDICAL GENETICS

  EXPANSION OF THE MYOTONIC-DYSTROPHY GENE IN ITALIAN AND SPANISH PATIENTS

• 1993 BIOMEDICINE & PHARMACOTHERAPY

  THE DYNAMIC GENOMICS OF MYOTONIC-DYSTROPHY AND ITS CLINICAL RELEVANCE - AN OVERVIEW

• 1992 CELL BIOCHEMISTRY AND FUNCTION

  POLYMERASE CHAIN-REACTION IN THE DETECTION OF MESSENGER-RNA TRANSCRIPTS FROM THE SLOW SKELETAL TROPONIN-T (TNNT1) GENE IN MYOTONIC-DYSTROPHY AND NORMAL MUSCLE

• 1993 BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY

  (CTG)N TRIPLET MUTATION AND PHENOTYPE MANIFESTATIONS IN MYOTONIC-DYSTROPHY PATIENTS