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References from Advances in PMP22 sequence variant-associated hereditary neuropathy with liability to pressure palsies: from gene dosage effects to mechanism-informed variant interpretation. Local targets link to admitted publications; unresolved targets remain external evidence.
Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies
10.1007/s00415-024-12839-7 · 2024 · External reference
Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population
10.1186/s13023-018-0779-5 · 2018 · External reference
PMP22-related neuropathies: a systematic review
10.3390/genes16111279 · 2025 · External reference
Mechanisms and treatments in demyelinating CMT
10.1007/s13311-021-01145-z · 2021 · External reference
Charcot-Marie-tooth disease and related neuropathies
10.1038/s41572-025-00679-2 · 2026 · External reference
Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy
10.1016/j.isci.2024.110989 · 2024 · External reference
Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin
10.1523/jneurosci.19-09-03396.1999 · 1999 · External reference
Abnormal junctions and permeability of myelin in PMP22-deficient nerves
10.1002/ana.24086 · 2014 · External reference
Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy
10.1523/jneurosci.17-12-04662.1997 · 1997 · External reference
Conduction block in PMP22 deficiency
10.1523/jneurosci.4264-09.2010 · 2010 · External reference
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP
10.1136/jnnp.2005.075242 · 2006 · External reference
Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene
10.1186/s13052-017-0414-4 · 2017 · External reference
A new point mutation in the PMP22 gene in a family suffering from atypical HNPP
10.3233/jnd-190460 · 2020 · External reference
Identification and targeted correction of a pathogenic PMP22 deep intronic variant
10.3390/ijms27083572 · 2026 · External reference
Overloaded endoplasmic reticulum-golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22
10.1523/jneurosci.18-02-00731.1998 · 1998 · External reference
Structural basis for the trembler-J phenotype of Charcot-Marie-tooth disease
10.1016/j.str.2011.05.009 · 2011 · External reference
How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-tooth disease
10.1016/j.jbc.2022.102839 · 2023 · External reference
The role of PMP22 T118M in Charcot-Marie-tooth disease remains unsolved
10.1016/j.jbc.2023.105180 · 2023 · External reference
T118M variant of PMP22 gene presents with painful peripheral neuropathy and varying Charcot-Marie-tooth features: a case series and review of the literature
10.1155/2018/2618071 · 2018 · External reference
Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion
10.1002/mus.24713 · 2015 · External reference
Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot-Marie-tooth disease
10.1007/s00415-026-13946-3 · 2026 · External reference
Aberrant molecular myelin architecture in Charcot-Marie-tooth disease type 1A and hereditary neuropathy with liability to pressure palsies
10.1002/glia.70124 · 2026 · External reference
Tuning PAK activity to rescue abnormal myelin permeability in HNPP
10.1371/journal.pgen.1006290 · 2016 · External reference
Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases
10.1038/s44321-023-00019-5 · 2024 · External reference
Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves
10.1093/hmg/ddaa082 · 2020 · External reference
Loss of YAP in Schwann cells improves HNPP pathophysiology
10.1002/glia.24592 · 2024 · External reference
Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review
10.11817/j.issn.1672-7347.2023.230116 · 2023 · External reference
A comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related neuropathies
10.1016/j.gmg.2025.100081 · 2025 · External reference
Pain and small-fiber affection in hereditary neuropathy with liability to pressure palsies (HNPP)
10.1515/sjpain-2019-0090 · 2019 · External reference
Age associated axonal features in HNPP with 17p11.2 deletion in Japan
10.1136/jnnp.2004.048140 · 2005 · External reference
Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report
10.5535/arm.2014.38.1.109 · 2014 · External reference
Radiomics applied to the diagnosis of peripheral nerve disorders: a systematic review and meta-analysis of the existing literature
10.3390/jcm15093262 · 2026 · External reference
Heterozygous mutations of SH3TC2 as a cause of HNPP (P2.441)
10.1212/wnl.90.15_supplement.p2.441 · 2018 · External reference
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force-second revision
10.1111/ene.14959 · 2021 · External reference
Neurological update: hereditary neuropathies
10.1007/s00415-022-11164-1 · 2022 · External reference
Hereditary polyneuropathies in the era of precision medicine: genetic complexity and emerging strategies
10.3390/genes17010056 · 2026 · External reference
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies
10.1002/mus.21083 · 2008 · External reference
Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation
10.1016/j.nmd.2013.09.005 · 2014 · External reference
A genomic mutational constraint map using variation in 76,156 human genomes
10.1038/s41586-023-06045-0 · 2024 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
ClinVar: improvements to accessing data
10.1093/nar/gkz972 · 2020 · External reference
Abnormal junctions and permeability of myelin in PMP22-deficient nerves
10.1002/ana.24086 · ExternalCitation · doi-reference
Loss of YAP in Schwann cells improves HNPP pathophysiology
10.1002/glia.24592 · ExternalCitation · doi-reference
Aberrant molecular myelin architecture in Charcot-Marie-tooth disease type 1A and hereditary neuropathy with liability to pressure palsies
10.1002/glia.70124 · ExternalCitation · doi-reference
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies
10.1002/mus.21083 · ExternalCitation · doi-reference
Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion
10.1002/mus.24713 · ExternalCitation · doi-reference
Neurological update: hereditary neuropathies
10.1007/s00415-022-11164-1 · ExternalCitation · doi-reference
Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies
10.1007/s00415-024-12839-7 · ExternalCitation · doi-reference
Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot-Marie-tooth disease
10.1007/s00415-026-13946-3 · ExternalCitation · doi-reference
Mechanisms and treatments in demyelinating CMT
10.1007/s13311-021-01145-z · ExternalCitation · doi-reference
A comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related neuropathies
10.1016/j.gmg.2025.100081 · ExternalCitation · doi-reference
Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy
10.1016/j.isci.2024.110989 · ExternalCitation · doi-reference
How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-tooth disease
10.1016/j.jbc.2022.102839 · ExternalCitation · doi-reference
The role of PMP22 T118M in Charcot-Marie-tooth disease remains unsolved
10.1016/j.jbc.2023.105180 · ExternalCitation · doi-reference
Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation
10.1016/j.nmd.2013.09.005 · ExternalCitation · doi-reference
Structural basis for the trembler-J phenotype of Charcot-Marie-tooth disease
10.1016/j.str.2011.05.009 · ExternalCitation · doi-reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · ExternalCitation · doi-reference
Charcot-Marie-tooth disease and related neuropathies
10.1038/s41572-025-00679-2 · ExternalCitation · doi-reference
A genomic mutational constraint map using variation in 76,156 human genomes
10.1038/s41586-023-06045-0 · ExternalCitation · doi-reference
Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases
10.1038/s44321-023-00019-5 · ExternalCitation · doi-reference
Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves
10.1093/hmg/ddaa082 · ExternalCitation · doi-reference
ClinVar: improvements to accessing data
10.1093/nar/gkz972 · ExternalCitation · doi-reference
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force-second revision
10.1111/ene.14959 · ExternalCitation · doi-reference
Age associated axonal features in HNPP with 17p11.2 deletion in Japan
10.1136/jnnp.2004.048140 · ExternalCitation · doi-reference
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP
10.1136/jnnp.2005.075242 · ExternalCitation · doi-reference
T118M variant of PMP22 gene presents with painful peripheral neuropathy and varying Charcot-Marie-tooth features: a case series and review of the literature
10.1155/2018/2618071 · ExternalCitation · doi-reference
Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review
10.11817/j.issn.1672-7347.2023.230116 · ExternalCitation · doi-reference
Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population
10.1186/s13023-018-0779-5 · ExternalCitation · doi-reference
Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene
10.1186/s13052-017-0414-4 · ExternalCitation · doi-reference
Heterozygous mutations of SH3TC2 as a cause of HNPP (P2.441)
10.1212/wnl.90.15_supplement.p2.441 · ExternalCitation · doi-reference
Tuning PAK activity to rescue abnormal myelin permeability in HNPP
10.1371/journal.pgen.1006290 · ExternalCitation · doi-reference
Pain and small-fiber affection in hereditary neuropathy with liability to pressure palsies (HNPP)
10.1515/sjpain-2019-0090 · ExternalCitation · doi-reference
Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy
10.1523/jneurosci.17-12-04662.1997 · ExternalCitation · doi-reference
Overloaded endoplasmic reticulum-golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22
10.1523/jneurosci.18-02-00731.1998 · ExternalCitation · doi-reference
Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin
10.1523/jneurosci.19-09-03396.1999 · ExternalCitation · doi-reference
Conduction block in PMP22 deficiency
10.1523/jneurosci.4264-09.2010 · ExternalCitation · doi-reference
A new point mutation in the PMP22 gene in a family suffering from atypical HNPP
10.3233/jnd-190460 · ExternalCitation · doi-reference
PMP22-related neuropathies: a systematic review
10.3390/genes16111279 · ExternalCitation · doi-reference
Hereditary polyneuropathies in the era of precision medicine: genetic complexity and emerging strategies
10.3390/genes17010056 · ExternalCitation · doi-reference
Identification and targeted correction of a pathogenic PMP22 deep intronic variant
10.3390/ijms27083572 · ExternalCitation · doi-reference
Radiomics applied to the diagnosis of peripheral nerve disorders: a systematic review and meta-analysis of the existing literature
10.3390/jcm15093262 · ExternalCitation · doi-reference
Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report
10.5535/arm.2014.38.1.109 · ExternalCitation · doi-reference
