GENETIC AND PHENOTYPIC CHARACTERIZATION OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP)

Pubblicazioni Scientifiche

• CHARCOT-MARIE-TOOTH DISORDERS

  Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease

• MUSCLE & NERVE

  Charcot-Marie-Tooth disease and related neuropathies: Molecular basis for distinction and diagnosis

• MUSCLE & NERVE

  Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy

• NEUROLOGICAL SCIENCES

  Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies

• NEUROLOGY

  Charcot-Marie-Tooth disease type 2 and P0 gene mutations

• NEUROLOGY

  Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

• NEUROLOGY

  Gene dosage effects in hereditary peripheral neuropathy - Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies