NEUROMUSCULAR TISSUE BANK: A SOURCE FOR BIOCHEMICAL AND GENETIC STUDIES

Pubblicazioni Scientifiche

• ACTA CARDIOLOGICA

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

• ANNALS OF NEUROLOGY

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

• ANNALS OF NEUROLOGY

  CARNITINE DEFICIENCY - ACUTE POSTPARTUM CRISIS

• ARCHIVES OF NEUROLOGY

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

• BIOCHIMICA ET BIOPHYSICA ACTA

  L-CARNITINE UPTAKE IN DIFFERENTIATING HUMAN CULTURED MUSCLE

• CIRCULATION

  MUSCLE CARNITINE DEFICIENCY IN PATIENTS WITH SEVERE PERIPHERAL VASCULAR-DISEASE

• EUROPEAN NEUROLOGY

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

• HUMAN MOLECULAR GENETICS

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

• ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES

  COGNITIVE AND PSYCHIATRIC EVALUATION OF 40 PATIENTS WITH MYOTONIC-DYSTROPHY

• JAPANESE HEART JOURNAL

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

• JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

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

• JOURNAL OF NEUROLOGY

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

• JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

• JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

  ENZYMES OF GLYCOGEN CYCLE AND GLYCOLYSIS IN VARIOUS HUMAN NEUROMUSCULAR DISORDERS

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  CORRELATION BETWEEN CLINICAL AND MOLECULAR-FEATURES IN 2 MELAS FAMILIES

• JOURNAL OF THE NEUROLOGICAL SCIENCES

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

• NEUROEPIDEMIOLOGY

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

• NEUROLOGY

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

• NEUROLOGY

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

• NEUROMUSCULAR DISORDERS

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

• PAEDIATRIC ANAESTHESIA

  PREVALENCE OF UNSUSPECTED MYOPATHY IN INFANTS PRESENTING FOR CLUBFOOT SURGERY

• REVUE NEUROLOGIQUE

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