CLINICAL, BIOCHEMICAL, AND MOLECULAR GENETIC ANALYSES OF HUMAN MITHOCHONDRIAL CARDIOMYOPATHIES

Pubblicazioni Scientifiche

• 1997 NEUROMUSCULAR DISORDERS

  Mitochondrial tRNA(Cys) gene mutation (A5814G): A second family with mitochondrial encephalopathy

• 1999 AMERICAN JOURNAL OF HUMAN GENETICS

  Maternally inherited cardiomyopathy: An atypical presentation of the mtDNA 12S rRNA gene A1555G mutation

• 2001 NEUROLOGY

  Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a sephardic Jewish family

• 1999 NEUROLOGY

  Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family

• 1999 EUROPEAN JOURNAL OF HUMAN GENETICS

  MtDNA-related idiopathic dilated cardiomyopathy

• 1998 MUSCLE & NERVE

  Genetic heterogeneity of myoclonus epilepsy with ragged-red fibers syndrome

• 1999 JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

  Maternally inherited cardiomyopathy: Clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid