NEUROMUSCULAR TISSUE BANK: A SOURCE FOR BIOCHEMICAL AND GENETIC STUDIES

Pubblicazioni Scientifiche

• 1991-01-01 ACTA CARDIOLOGICA

  ECHOCARDIOGRAPHIC AND PULSED DOPPLER FEATURES IN GLYCOGEN-STORAGE-DISEASE TYPE-II OF THE HEART (POMPES DISEASE)

• 1992-04-01 ANNALS OF NEUROLOGY

  MELAS - CLINICAL-FEATURES, BIOCHEMISTRY, AND MOLECULAR-GENETICS

• 1978-01-01 ANNALS OF NEUROLOGY

  CARNITINE DEFICIENCY - ACUTE POSTPARTUM CRISIS

• 1972-01-01 ARCHIVES OF NEUROLOGY

  COMPARATIVE STUDY OF ACID MALTASE DEFICIENCY - BIOCHEMICAL DIFFERENCES BETWEEN INFANTILE, CHILDHOOD, AND ADULT TYPES

• 1991-11-12 BIOCHIMICA ET BIOPHYSICA ACTA

  L-CARNITINE UPTAKE IN DIFFERENTIATING HUMAN CULTURED MUSCLE

• 1991-10-01 CIRCULATION

  MUSCLE CARNITINE DEFICIENCY IN PATIENTS WITH SEVERE PERIPHERAL VASCULAR-DISEASE

• 1994-03-01 EUROPEAN NEUROLOGY

  SINGLE MUSCLE-FIBER ANALYSES IN 2 BROTHERS WITH SUCCINATE-DEHYDROGENASE DEFICIENCY

• 1995-04-01 HUMAN MOLECULAR GENETICS

  MYOTONIC-DYSTROPHY - EVIDENCE FOR A POSSIBLE DOMINANT-NEGATIVE RNA MUTATION

• 1992-02-01 ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES

  COGNITIVE AND PSYCHIATRIC EVALUATION OF 40 PATIENTS WITH MYOTONIC-DYSTROPHY

• 1990-01-01 JAPANESE HEART JOURNAL

  EVOLUTION OF CARDIAC INVOLVEMENT IN PROGRESSIVE OPHTHALMOPLEGIA WITH DELETED MITOCHONDRIAL-DNA

• 1994-05-01 JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

  MALE HYPOGONADISM IN MYOTONIC-DYSTROPHY IS RELATED TO (CTG)N TRIPLET MUTATION

• 1995-06-01 JOURNAL OF NEUROLOGY

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

• 1991-04-01 JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

  CONGENITAL MUSCULAR-DYSTROPHY - BRAIN ALTERATIONS IN AN UNSELECTED SERIES OF WESTERN PATIENTS

• 1967-01-01 JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

  ENZYMES OF GLYCOGEN CYCLE AND GLYCOLYSIS IN VARIOUS HUMAN NEUROMUSCULAR DISORDERS

• 1992-12-01 JOURNAL OF THE NEUROLOGICAL SCIENCES

  CORRELATION BETWEEN CLINICAL AND MOLECULAR-FEATURES IN 2 MELAS FAMILIES

• 1990-12-01 JOURNAL OF THE NEUROLOGICAL SCIENCES

  UBIDECARENONE IN THE TREATMENT OF MITOCHONDRIAL MYOPATHIES - A MULTICENTER DOUBLE-BLIND TRIAL

• 1992-01-01 NEUROEPIDEMIOLOGY

  EPIDEMIOLOGY OF SPINAL MUSCULAR ATROPHIES IN A SAMPLE OF THE ITALIAN POPULATION

• 1995-04-01 NEUROLOGY

  GENETIC AND BIOCHEMICAL NORMALIZATION IN FEMALE CARRIERS OF DUCHENNE MUSCULAR-DYSTROPHY - EVIDENCE FOR FAILURE OF DYSTROPHIN PRODUCTION IN DYSTROPHIN-COMPETENT MYONUCLEI

• 1976-01-01 NEUROLOGY

  CARNITINE DEFICIENCY OF SKELETAL-MUSCLE - REPORT OF A TREATED CASE

• 1992-01-01 NEUROMUSCULAR DISORDERS

  VARIABILITY OF THE EXPRESSION OF MUSCLE MITOCHONDRIAL DAMAGE IN OCULAR MITOCHONDRIAL MYOPATHY

• 1995-01-01 PAEDIATRIC ANAESTHESIA

  PREVALENCE OF UNSUSPECTED MYOPATHY IN INFANTS PRESENTING FOR CLUBFOOT SURGERY

• 1991-01-01 REVUE NEUROLOGIQUE

  MULTICENTER TRIAL WITH UBIDECARENONE - TREATMENT OF 44 PATIENTS WITH MITOCHONDRIAL MYOPATHIES