Andre Martinuzzi

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Despite much evidence of cognitive and affective disorders in Friedreich's ataxia (FRDA), the nature of mental status in FRDA has received little systematic attention. It has been proposed that the cerebellum may interfere indirectly with cognition through the cerebello-cortical loops, whereas the role of pathological changes in different areas of the(More)
We describe the clinical, morphological, biochemical presentation in two MELAS families, and correlate it with the distribution and proportion of mitochondrial DNA carrying the A to G transition at nt 3243. Family A was characterized by late onset MELAS in two members, CPEO in one, and mild CNS involvement in another. 20-61% of mtDNA of affected and(More)
Ultrastructural features of neuromuscular junction formation and transverse tubule development were studied utilizing a newly developed model in which human muscle fibres cultured in monolayer are innervated by foetal rat spinal cord with dorsal root ganglia attached. At early innervation (7-10 days), when distinct 'boutons' are contacting muscle fibres,(More)
The electrophoretic pattern of phosphoglycerate mutase of adult innervated normal human muscle is composed predominantly of the muscle-specific isozyme, whereas the electrophoretic pattern of aneurally cultured human muscle is composed only of the brain-specific isozyme. We studied the transition of the isozymes (phosphogluterate mutase) in human muscle(More)
Expression of muscle specific isozymes (MSIs) of creatine kinase (CK, EC, glycogen phosphorylase (GP, EC, lactate dehydrogenase (LDH, EC and phosphoglycerate mutase (PGAM, EC was studied both in cultured human muscle fibers which had been innervated (InnCHMFs) for 20-83 days, and in their non-innervated (non-InnCHMFs)(More)
Isozymes of creatine kinase and glycogen phosphorylase are excellent markers of skeletal muscle maturation. In adult innervated muscle only the muscle-gene-specific isozymes are present, whereas aneurally cultured human muscle has predominantly the fetal pattern of isozymes. We have studied the isozyme pattern of human muscle cultured in monolayer and(More)
We report a case of Guillain-Barré syndrome (GBS), requiring prolonged mechanical ventilation, associated at its presentation with thrombocytopenia, in a 50-year-old woman. She was treated with immunoglobulin, and short-term corticosteroids for thrombocytopenia. In spite of the severe presentation we observed a very good and rapid recovery, which could have(More)