Hereditary Motor and Sensory Neuropathies Involving Altered Dosage or Mutation of PMP22: The CMT1A Duplication and HNPP Deletion
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Elsevier
Reference216 articles.
1. Molecular genetic analysis of Charcot-Marie-Tooth 1A duplication in Norwegian patients by quantitative photo-stimulated luminescence imaging;Aarskog;J. Neurol. Sci.,2001
2. Pressure palsy as the initial presentation in a case of late-onset Charcot-Marie-Tooth disease type 1A;Abe;Intern. Med.,1997
3. Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy;Adlkofer;J. Neurosci.,1997
4. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice;Adlkofer;Nat. Genet.,1995
5. Tomaculous neuropathy with unusual clinical aspects;Alexianu;Rom. J. Neurol. Psychiatry,1995
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