Publications

Here are some important publications and research specifically about Hereditary Neuropathy with Liability to Pressure Palsies (HNPP).

Find the full list of publications at HNPP Research.

• A study of the pathology of a bovine primary peripheral myelinopathy with features of tomaculous neuropathy – 1996
• Hereditary thermosensitive neuropathy: an autosomal dominant disorder of the peripheral nervous system – 1997
• Hereditary Neuropathy with Liability to Pressure Palsies – 1998, updated 2014
• Fate of Schwann cells in CMT1A and HNPP: evidence for apoptosis – 1998
• Is Bone a Target-Tissue for the Nervous System? – 2000
• Epidural analgesia in labour for a patient with hereditary neuropathy with liability to pressure palsy – 2001
• Regional anaesthesia for labor and delivery in a parturient with neuropathy with liability to pressure palsy (tomaculous neuropathy) – 2004
• Hereditary neuropathy with liability to pressure palsies (HNPP) with progressive deafness and demyelination in the central nervous system – 2004
• Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations – 2005
• Hereditary neuropathy with liability to pressure palsies and anaesthesia: peri-operative nerve injury – 2006
• Charcot-Marie-Tooth disease and related hereditary polyneuropathies: Molecular diagnostics determine aspects of medical management – 2006
• Concomitant Mutations in the PMP-22 Gene and Another Gene Produce Novel Phenotypes – 2006
• T118M PMP22 Mutation Causes Partial Loss of Function and HNPP-like Neuropathy – 2006
• Swallowing dysfunction in hereditary neuropathy with liability to pressure palsies – 2008
• Familial recurrent Bell’s palsy – 2009
• Bell’s palsy and hereditary neuropathy with liability to pressure palsy (HNPP): Is there a common genetic background? – 2013
• Brachial plexopathy – 2013
• Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study – 2013
• Optic and auditory pathway dysfunction in demyelinating neuropathies – 2014
• Disorders of the lower cranial nerves – 2015
• Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis – 2015
• Two Siblings with Genetically Proven HNPP and Autonomic Neuropathy – 2015
• A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia – 2015
• Case of hereditary neuropathy with liability to pressure palsies presenting progressive muscular atrophy with lower motor neuron degeneration in the spinal cord and the brainstem – 2015
• Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP) – 2016
• Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene? – 2016
• Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion – 2016
• Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population – 2018
• PMP22 genetic variant causes painful peripheral neuropathy in CMT patients, case report shows – 2019