GENOTYPE-PHENOTYPE CORRELATIONS IN SPINAL MUSCULAR ATROPHY (SMA): MUTATIONS OF THE SMA-ASSOCIATED GENES AND THEIR EFFECTS ON THE PHENOTYPE

Pubblicazioni Scientifiche

• 1996 CLINICAL CHEMISTRY

  DNA enzyme immunoassay for improved molecular detection of deletions in spinal muscular atrophies

• 1996 HUMAN GENETICS

  Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells

• 1996 NEUROMUSCULAR DISORDERS

  Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

• 1996 CYTOGENETICS AND CELL GENETICS

  Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization

• 1995 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  SURVIVAL MOTOR-NEURON GENE TRANSCRIPT ANALYSIS IN MUSCLES FROM SPINAL MUSCULAR-ATROPHY PATIENTS

• 1996 MUSCLE & NERVE

  Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families