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

Scientific Publications

• 1999 NEUROGENETICS

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

• 1999 EUROPEAN JOURNAL OF HUMAN GENETICS

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

• 2000 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 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

• 2001 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