ISOLATION AND CHARACTERIZATION OF THE GENE(S) RESPONSIBLE FOR CHILDHOOD ONSET SPINAL MUSCULAR ATROPHIES

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF HUMAN GENETICS

  Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5

• AMERICAN JOURNAL OF MEDICAL GENETICS

  PRESYMPTOMATIC DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY (SMA)-III CONFIRMED BY DELETION ANALYSIS OF THE SURVIVAL MOTOR-NEURON GENE

• EUROPEAN JOURNAL OF HUMAN GENETICS

  A PROVISIONAL TRANSCRIPT MAP OF THE SPINAL MUSCULAR-ATROPHY (SMA) CRITICAL REGION

• HUMAN GENETICS

  Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family

• HUMAN MOLECULAR GENETICS

  Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

• JOURNAL OF MOLECULAR MEDICINE-JMM

  Spinal muscular atrophies: Recent insights and impact on molecular diagnosis

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  Benign monomelic amyotrophies of upper and lower limb are not associated to deletions of survival motor neuron gene

• LANCET

  GENETIC HOMOGENEITY BETWEEN CHILDHOOD-ONSET AND ADULT-ONSET AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY