Research & Literature

Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.

Schlebach JP, Narayan M, Alford C, et al.

Journal of the American Chemical Society 2015; (137(27)):8758-68 doi:10.1021/jacs.5b03743.

Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience.

Karadima G, Koutsis G, Raftopoulou M, et al.

Journal of the peripheral nervous system : JPNS 2015; (20(2)):79-85 doi:10.1111/jns.12125.

Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?

Potulska-Chromik A, Ryniewicz B, Aragon-Gawinska K, et al.

Journal of the peripheral nervous system : JPNS 2016; (21(1)):22-6 doi:10.1111/jns.12152.

Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures.

Kramer M, Ly A, Li J

American journal of orthopedics (Belle Mead, N.J.) 2016; (45(1)):E27-8.

[Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients].

Asadchuk TV, Rumiantseva NV, Naumchik IV, et al.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2016; (116(1)):64-69 doi:10.17116/jnevro20161161164-69.

Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion.

de Oliveira AP, Pereira RC, Onofre PT, et al.

Arquivos de neuro-psiquiatria 2016; (74(2)):99-105.

Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP).

Cortese A, Piccolo G, Lozza A, et al.

Neuromuscular disorders : NMD 2016; (26(7)):455-8.

An Unusual Postoperative Neuropathy: Foot Drop Contralateral to the Lateral Decubitus Position.

Morgan KJ, Figueroa JJ

A & A case reports 2016; (7(5)):115-7 doi:10.1213/XAA.0000000000000360.

Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP.

Hu B, Arpag S, Zhang X, et al.

PLoS genetics 2016; (12(9)):e1006290 doi:10.1371/journal.pgen.1006290.

Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination.

Bolino A, Piguet F, Alberizzi V, et al.

EMBO molecular medicine 2016; (8(12)):1438-1454 doi:10.15252/emmm.201606349.

[Hereditary neuropathy with liability to pressure palsies in childhood: Report of three cases].

Bar C, Villéga F, Espil C, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2017; (24(3)):260-262 doi:10.1016/j.arcped.2016.12.002.

Electrodiagnostic Characterization of Hereditary Neuropathy With Liability to Pressure Palsies.

Takahashi S, Chum M, Kimpinski K

Journal of clinical neuromuscular disease 2017; (18(3)):119-124 doi:10.1097/CND.0000000000000152.

A case report of hereditary neuropathy with liability to pressure palsies accompanied by type 2 diabetes mellitus and psoriasis.

Li J, Niu B, Wang X, et al.

Medicine 2017; (96(19)):e6922 doi:10.1097/MD.0000000000006922.

Muscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies.

Kodaira M, Kodama S, Kamijo Y, et al.

Brain and behavior 2017; (7(9)):e00783 doi:10.1002/brb3.783.

Characterisation of pain in people with hereditary neuropathy with liability to pressure palsy.

Beales D, Fary R, Little C, et al.

Journal of neurology 2017; (264(12)):2464-2471 doi:10.1007/s00415-017-8648-z.

Peripheral neuropathy in diabetes: it's not always what it looks like.

Maltese G, Tan SV, Bruno E, et al.

Diabetic medicine : a journal of the British Diabetic Association 2018; (35(10)):1457-1459 doi:10.1111/dme.13701.

Charcot‑Marie‑Tooth type 1A drug therapies: role of adenylyl cyclase activity and G‑protein coupled receptors in disease pathomechanism.

Kiepura AJ, Kochański A

Acta neurobiologiae experimentalis 2018; (78(3)):198-209.

Anesthetic Considerations of Hereditary Neuropathy With Liability to Pressure Palsies in an Obstetric Patient: A Case Report.

Bolger AA, Stewart PA

A&A practice 2019; (13(4)):126-129 doi:10.1213/XAA.0000000000001010.

Clinical and neurophysiological findings in patients with hereditary neuropathy with liability to pressure palsy and chromosome 17p11.2 deletion.

Pabón Meneses RM, Azcona Ganuza G, Urriza Mena J, et al.

Neurologia 2022; (37(4)):243-249 doi:10.1016/j.nrl.2019.02.005.

Comparison of clinical and electrophysiological features of patients with hereditary neuropathy with liability to pressure palsies with or without pain.

Lefour S, Gallouedec G, Magy L

Journal of the neurological sciences 2020; (409()):116629 doi:10.1016/j.jns.2019.116629.

Length-dependent MRI of hereditary neuropathy with liability to pressure palsies.

Pridmore M, Castoro R, McCollum MS, et al.

Annals of clinical and translational neurology 2020; (7(1)):15-25 doi:10.1002/acn3.50953.

Neuromuscular Mimics of Entrapment Neuropathies of Upper Extremities.

Gilchrist JM, Dandapat S

Hand (New York, N.Y.) 2020; (15(5)):599-607 doi:10.1177/1558944719898801.

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.

Benquey T, Fockens E, Kouton L, et al.

Journal of neuromuscular diseases 2020; (7(4)):505-510 doi:10.3233/JND-190460.

Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements.

Lee AJ, Nam DE, Choi YJ, et al.

Molecular genetics & genomic medicine 2020; (8(9)):e1380 doi:10.1002/mgg3.1380.

Fatigue in patients with hereditary neuropathy with liability to pressure palsies.

Fritz NE, Chen Y, Waters L, et al.

Annals of clinical and translational neurology 2020; (7(8)):1400-1409 doi:10.1002/acn3.51133.

Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department.

Kim C, Park JS

Yeungnam University journal of medicine 2020; (37(4)):341-344 doi:10.12701/yujm.2020.00472.

The Electrophysiologic and Ultrasonographic Change after Carpal Tunnel Release in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy.

Kim YJ, Kim DH

Neurology India 2020; (68(5)):1232-1234 doi:10.4103/0028-3886.299164.

Clinical and neurophysiological findings in patients with hereditary neuropathy with liability to pressure palsy and chromosome 17p11.2 deletion.

Pabón Meneses RM, Azcona Ganuza G, Urriza Mena J, et al.

Neurologia 2022; (37(4)):243-249 doi:10.1016/j.nrleng.2019.02.012.

Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom.

Karklinsky S, Kugler S, Bar-Yosef O, et al.

Italian journal of pediatrics 2022; (48(1)):84 doi:10.1186/s13052-022-01280-z.

Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP.

Chompoopong P, Niu Z, Shouman K, et al.

Muscle & nerve 2022; (66(4)):479-486 doi:10.1002/mus.27687.

Heterogeneous Presentation of Hereditary Neuropathy With Liability to Pressure Palsies: Clinical and Electrodiagnostic Findings in Three Patients.

Shields LB, Iyer VG, Zhang YP, Shields CB

Cureus 2022; (14(12)):e32296 doi:10.7759/cureus.32296.

An Unusual Case of Hereditary Neuropathy With Liability to Pressure Palsy: A Diagnostic Challenge.

Saurabh K, Ahmad R

Cureus 2023; (15(1)):e33306 doi:10.7759/cureus.33306.

Hereditary Neuropathy with Liability to Pressure Palsy Presenting as Bilateral Foot Drop.

Koç İ, Koç G, Özenç B, Odabaşı Z

The Eurasian journal of medicine 2023; (55(1)):90-92 doi:10.5152/eurasianjmed.2023.21154.

Multiple tendon transfer for a case of radial nerve palsy in hereditary neuropathy with liability to pressure palsy.

Palumbo F, Yamamoto M, Hirata H

Nagoya journal of medical science 2023; (85(1)):204-210 doi:10.18999/nagjms.85.1.204.

Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report.

Zhu G, Nie X, Qi W, et al.

Heliyon 2023; (9(7)):e18340 doi:10.1016/j.heliyon.2023.e18340.

Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review.

Cao W, Huang S, Zhao H, et al.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2023; (48(10)):1572-1582 doi:10.11817/j.issn.1672-7347.2023.230116.

Recurrent Ipsilateral C5 Nerve Palsy Associated With Hereditary Neuropathy With Liability to Pressure Palsy.

Nozue K, Sugeno N, Ishiyama S, et al.

Cureus 2024; (16(3)):e55948 doi:10.7759/cureus.55948.

Anesthetic Considerations for Patients with Hereditary Neuropathy with Liability to Pressure Palsies: A Narrative Review.

Laudanski K, Elmadhoun O, Mathew A, et al.

Healthcare (Basel, Switzerland) 2024; (12(8)) doi:10.3390/healthcare12080858.

Pregnancy and Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report and Narrative Review of the Literature.

Sudhakar VP, Sabu J, Boatin B, Austin-Smith K

Cureus 2024; (16(5)):e61236 doi:10.7759/cureus.61236.

An interesting cause of wrist drop: The crow position in yoga and hereditary neuropathy with liability to pressure palsies.

Isik K, Odabaşı Z

Turkish journal of physical medicine and rehabilitation 2024; (70(2)):282-284 doi:10.5606/tftrd.2024.12006.

Case Report: Hereditary neuropathy with liability to pressure palsy (HNPP): the role of genetic investigation in diagnostic assessment.

Savasta S, Serra F, Galimberti L, et al.

Frontiers in genetics 2025; (16()):1613022 doi:10.3389/fgene.2025.1613022.

Hereditary Neuropathy with Liability to Pressure Palsies Mimicking a Chronic Inflammatory Demyelinating Polyneuropathy Variant: A Case Report Highlighting Diagnostic Challenges.

Yamamoto M, Hatanaka Y, Kaida K

Internal medicine (Tokyo, Japan) 2026; (65(9)):1302-1306 doi:10.2169/internalmedicine.5771-25.

Hereditary Neuropathy with Liability to Pressure Palsies Unmasked by Polatuzumab Vedotin-containing Chemotherapy.

Kawanami T, Yoshikawa M, Goto Y, et al.

Internal medicine (Tokyo, Japan) 2026; (65(13)):1825-1828 doi:10.2169/internalmedicine.6361-25.

"Painless palsy" revisited: a systematic review of pain in hereditary neuropathy with liability to pressure palsies.

Raasveld FV, Pacheco FJ, Rao AS, et al.

Pain management 2026; 1-19 doi:10.1080/17581869.2026.2676099.