TOWARDS AN AETIOLOGY AND PATHOGENETIC DIAGNOSIS OF THE INHERITED NEUROPATHIES

Pubblicazioni Scientifiche

• 2000 ACTA NEUROPATHOLOGICA

  Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero

• 1999 NEUROLOGY

  Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22

• 2001 JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

  PMP22 related congenital hypomyelination neuropathy