SPINAL MUSCULAR ATROPHY: MUTATION AND FUNCTIONAL ANALYSIS OF THE SURVIVAL MOTOR NEURON GENE AND ITS PROTEIN PRODUCT

Pubblicazioni Scientifiche

• 2000-01-01 AMINO ACIDS

  Excitatory amino acid stimulation of the survival of rat cerebellar granule cells in culture is associated with an increase in SMN, the spinal muscular atrophy disease gene product

• 1999-04-01 EUROPEAN JOURNAL OF HUMAN GENETICS

  SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

• 2001-02-01 EUROPEAN JOURNAL OF HUMAN GENETICS

  Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype

• 1999-12-01 HUMAN MOLECULAR GENETICS

  Detection of the survival motor neuron (SMN) genes by FISH:: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients

• 1999-04-01 NEUROGENETICS

  The drastic reduction of SMN protein in SMA I spinal cord motor neurons is not due to inefficient transcription