ANALYSIS OF THE DYNAMIC MUTATION OF THE MYOTONIN PROTEIN – KINASE (MT.PK) GENE

Pubblicazioni Scientifiche

• 1995 JOURNAL OF NEUROLOGY

  POSTZYGOTIC INSTABILITY OF THE MYOTONIC-DYSTROPHY P[AGC]N REPEAT SUPPORTED BY LARGER EXPANSIONS IN MUSCLE AND REDUCED AMPLIFICATIONS IN SPERM

• 1994 JOURNAL OF MEDICAL GENETICS

  MEIOTIC DRIVE AT THE MYOTONIC-DYSTROPHY LOCUS

• 1995 NEUROMUSCULAR DISORDERS

  DISCORDANT CLINICAL OUTCOME IN MYOTONIC-DYSTROPHY RELATIVES SHOWING (CTG)(N) GREATER-THAN-700 REPEATS

• 1995 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  DIFFERENT EXPRESSION OF THE MYOTONIN PROTEIN-KINASE GENE IN DISCRETE AREAS OF HUMAN BRAIN

• 1994 HUMAN MUTATION

  NORTH EURASIAN ORIGIN OF THE MYOTONIC-DYSTROPHY MUTATION

• 1996 AMERICAN JOURNAL OF MEDICAL GENETICS

  Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG](n) trinucleotide repeats

• 1995 JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

  CORRELATION BETWEEN CARDIAC INVOLVEMENT AND CTG TRINUCLEOTIDE REPEAT LENGTH IN MYOTONIC-DYSTROPHY

• 1994 AMERICAN JOURNAL OF HUMAN GENETICS

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