IDENTIFICATION AND CHARACTERIZATION OF THE DISEASE LOCUS RESPONSIBLE FOR AUTOSOMAL DOMINANT CHRONIC EXTERNAL OPHTHALMOPLEGIA WITH MULTIPLE DELETIONS OF MITOCHONDRIAL DNA

Pubblicazioni Scientifiche

• 1995 GENOMICS

  CHROMOSOMAL LOCALIZATION OF MITOCHONDRIAL TRANSCRIPTION FACTOR-A (TCF6), SINGLE-STRANDED DNA-BINDING PROTEIN (SSBP), AND ENDONUCLEASE-G (ENDOC), 3 HUMAN HOUSEKEEPING GENES INVOLVED IN MITOCHONDRIAL BIOGENESIS

• 1996 JOURNAL OF INHERITED METABOLIC DISEASE

  Neurological presentations of mitochondrial diseases

• 1995 NATURE GENETICS

  AN AUTOSOMAL LOCUS PREDISPOSING TO DELETIONS OF MITOCHONDRIAL-DNA

• 1995 JOURNAL OF NEUROLOGY

  EARLY-ONSET ENCEPHALOMYOPATHY ASSOCIATED WITH TISSUE-SPECIFIC MITOCHONDRIAL-DNA DEPLETION - A MORPHOLOGICAL, BIOCHEMICAL AND MOLECULAR-GENETIC STUDY

• 1995 JOURNAL OF NEUROLOGY

  GENOTYPE TO PHENOTYPE CORRELATIONS IN MITOCHONDRIAL ENCEPHALOMYOPATHIES ASSOCIATED WITH THE A3243G MUTATION OF MITOCHONDRIAL-DNA

• 1995 JOURNAL OF NEUROLOGY

  SEQUENCE-ANALYSIS OF MITOCHONDRIAL-DNA IN A NEW MATERNALLY INHERITED ENCEPHALOMYOPATHY

• 1995 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  SEARCHING FOR GENES AFFECTING THE STRUCTURAL INTEGRITY OF THE MITOCHONDRIAL GENOME

• 1995 HUMAN MOLECULAR GENETICS

  MATERNALLY INHERITED HEARING-LOSS, ATAXIA AND MYOCLONUS ASSOCIATED WITH A NOVEL POINT MUTATION IN MITOCHONDRIAL TRNA(SER(UCN)) GENE

• 1995 HUMAN MOLECULAR GENETICS

  NUCLEAR-DNA ORIGIN OF CYTOCHROME-C-OXIDASE DEFICIENCY IN LEIGHS SYNDROME - GENETIC-EVIDENCE BASED ON PATIENTS-DERIVED RHO-DEGREES TRANSFORMANTS