INTEGRATED MOLECULAR APPROACHES INTO THE STUDY OF GENES INVOLVED IN MOTOR NEURON DISEASE: FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS (ALS) AND SPINAL MUSCULAR ATHROPHY (SMA)

Pubblicazioni Scientifiche

• 1993 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  HUMAN ELONGATION FACTOR-EF-1-BETA - CLONING AND CHARACTERIZATION OF THE EF1-BETA-5A GENE AND ASSIGNMENT OF EF-1-BETA ISOFORMS TO CHROMOSOME-2, CHROMOSOME-5, CHROMOSOME-15 AND CHROMOSOME-X

• 1995 JOURNAL OF MEDICAL GENETICS

  NEONATAL SPINAL MUSCULAR-ATROPHY WITH DIAPHRAGMATIC PARALYSIS IS UNLINKED TO 5Q11.2-QL3

• 1993 MOLECULAR AND CELLULAR PROBES

  A TOOL FOR THE MOLECULAR ANALYSIS OF AN EARLY LETHAL DISEASE - SLIDE-PCR IN SPINAL MUSCULAR-ATROPHY PATIENTS

• 1995 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  IDENTIFICATION OF MULTIPLE TRANSCRIBED SEQUENCES FROM THE SPINAL MUSCULAR-ATROPHY REGION ON HUMAN-CHROMOSOME-5

• 1995 PRENATAL DIAGNOSIS

  DE-NOVO DELETIONS OF THE 5Q13 REGION AND PRENATAL-DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY

• 1993 PCR-METHODS AND APPLICATIONS

  PCR PROTOCOL FOR DNA RECOVERY FROM SPURRS-EMBEDDED MUSCLE BIOPSIES

• 1994 PRENATAL DIAGNOSIS

  First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers

• 1996 HUMAN MUTATION

  Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus