ATYPICAL PRESENTATION OF Xp21 DISEASE: DYSTROPHIN ANALYSIS IN PATIENTS WITH MYALGIA OR IDIOPATHIC HYPER-CK-EMIA

Pubblicazioni Scientifiche

• 1994 BRAIN

  CLINICAL VARIABILITY IN BECKER MUSCULAR-DYSTROPHY - GENETIC, BIOCHEMICAL AND IMMUNOHISTOCHEMICAL CORRELATES

• 1993 HUMAN MUTATION

  A NOVEL NONSENSE MUTATION IN THE HUMAN DYSTROPHIN GENE

• 1995 JOURNAL OF NEUROLOGY

  EARLY-ONSET CEREBELLAR-ATAXIA, MYOCLONUS AND HYPOGONADISM IN A CASE OF MITOCHONDRIAL COMPLEX-III DEFICIENCY TREATED WITH VITAMIN-K3 AND VITAMIN-C

• 1995 NEUROMUSCULAR DISORDERS

  DUPLICATION OF DYSTROPHIN GENE AND DISSIMILAR CLINICAL PHENOTYPE IN THE SAME FAMILY

• 1994 MUSCLE & NERVE

  FETUS-LIKE DYSTROPHIN EXPRESSION AND OTHER CYTOSKELETAL PROTEIN ABNORMALITIES IN CENTRONUCLEAR MYOPATHIES

• 1994 JOURNAL OF THE NEUROLOGICAL SCIENCES

  EXPRESSION OF CYTOSKELETON PROTEINS IN CENTRAL CORE DISEASE

• 1994 NEUROMUSCULAR DISORDERS

  A POSSIBLE MISSENSE MUTATION DETECTED IN THE DYSTROPHIN GENE BY DOUBLE-STRAND CONFORMATION ANALYSIS (DSCA)

• 1994 JOURNAL OF NEUROLOGY

  MUSCLE PHOSPHOGLYCERATE MUTASE (PGAM) DEFICIENCY IN THE 1ST CAUCASIAN PATIENT - BIOCHEMISTRY, MUSCLE CULTURE AND P-31-MR SPECTROSCOPY

• 1995 NEUROREPORT

  LOCALIZATION OF VINCULIN AND TALIN AT PERINEURIAL CELLS OF HUMAN SURAL NERVE

• 1994 MUSCLE & NERVE

  IMMUNOCYTOCHEMISTRY OF MUSCLE CYTOSKELETAL PROTEINS IN ACID MALTASE DEFICIENCY