BMD: A MULTIFACTORIAL CLINICAL STUDY OF CONSEQUENCES OF DYSTROPHIN ABNORMALITY: A TRIAL WITH STEROID THERAPY

Pubblicazioni Scientifiche

• 1992 JOURNAL OF MEDICAL GENETICS

  SCREENING FOR MUTATIONS IN THE MUSCLE PROMOTER REGION AND FOR EXONIC DELETIONS IN A SERIES OF 115 DMD AND BMD PATIENTS

• 1994 MUSCLE & NERVE

  Deflazacort in Duchenne dystrophy: study of long-term effect

• 1994 NEUROMUSCULAR DISORDERS

  CLINICAL-MOLECULAR CORRELATION IN 104 MILD X-LINKED MUSCULAR-DYSTROPHY PATIENTS - CHARACTERIZATION OF SUBCLINICAL PHENOTYPES

• 1994 NEUROMUSCULAR DISORDERS

  PREVALENT CARDIAC INVOLVEMENT IN DYSTROPHIN BECKER TYPE MUTATION

• 1992 NEUROLOGY

  DYSTROPHINOPATHY IN ISOLATED CASES OF MYOPATHY IN FEMALES

• 1993 JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

  CARDIAC INVOLVEMENT IN BECKER MUSCULAR-DYSTROPHY

• 1991 ANNALS OF NEUROLOGY

  IS THE CARBOXYL-TERMINUS OF DYSTROPHIN REQUIRED FOR MEMBRANE ASSOCIATION - A NOVEL, SEVERE CASE OF DUCHENNE MUSCULAR-DYSTROPHY

• 1994 JOURNAL OF THE NEUROLOGICAL SCIENCES

  ABSENCE OF DYSTROPHIN AND SPECTRIN IN REGENERATING MUSCLE-FIBERS FROM BECKER DYSTROPHY PATIENTS

• 1993 NEUROEPIDEMIOLOGY

  REAPPRAISAL OF THE INCIDENCE RATE OF DUCHENNE AND BECKER MUSCULAR-DYSTROPHIES ON THE BASIS OF MOLECULAR DIAGNOSIS