The Current State of Charcot–Marie–Tooth Disease Treatment
06/2023
https://www.mdpi.com/2073-4425/14/7/1391 

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, Li Z, Zhu X, Liu L, Zhang R. Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Oct 28;48(10):1572-1582. English, Chinese. doi: 10.11817/j.issn.1672-7347.2023.230116. PMID: 38432886; PMCID: PMC10929904.
10/2023
https://pubmed.ncbi.nlm.nih.gov/38432886/
http://xbyxb.csu.edu.cn/thesisDetails#10.11817/j.issn.1672-7347.2023.230116&lang=zh 

Hereditary neuropathy associated with liability to pressure palsies: a 24-year experience with carpal and cubital tunnel surgery
François T, Davion J-B, Deken-Delannoy V, Chantelot C, Saab M. Hereditary neuropathy associated with liability to pressure palsies: a 24-year experience with carpal and cubital tunnel surgery. Journal of Hand Surgery (European Volume). 2024;49(2):257-263. doi:10.1177/17531934231199849
09/2023
https://journals.sagepub.com/doi/abs/10.1177/17531934231199849 

Video CMT and HNPP hand surgery
https://www.youtube.com/watch?v=YVfJLFCkfdc 

Tibial neuropathy, a rare manifestation of heriditary neuropathy with liability to pressure palsies: a case report
Zhu G, Nie X, Qi W, Ma Y, Hao L, Guo X. Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report. Heliyon. 2023 Jul 14;9(7):e18340. doi: 10.1016/j.heliyon.2023.e18340. PMID: 37519674; PMCID: PMC10372733.
07/2023
https://www.cell.com/heliyon/pdf/S2405-8440(23)05548-2.pdf 

Efficacy of Spinal Cord Stimulation Using Differential Target Multiplexed Stimulation for Intractable Pain of Hereditary Neuropathy with Liability to Pressure Palsies: A Case Report
Tanei T, Nishimura Y, Nagashima Y, Ishii M, Nishii T, Fukaya N, Abe T, Kato H, Maesawa S, Saito R. Efficacy of Spinal Cord Stimulation Using Differential Target Multiplexed Stimulation for Intractable Pain of Hereditary Neuropathy with Liability to Pressure Palsies: A Case Report. NMC Case Rep J. 2023 Jul 13;10:203-208. doi: 10.2176/jns-nmc.2023-0023. PMID: 37539362; PMCID: PMC10396390.
07/2023
https://pubmed.ncbi.nlm.nih.gov/37539362/

Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies
Kawamoto N, Hamada Y, Kobayashi S, Naruse H, Ishiura H, Matsukawa T, Mitsui J, Tsuji S, Sonoo M, Toda T. Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies. J Peripher Nerv Syst. 2023 Sep;28(3):513-517. doi: 10.1111/jns.12558. Epub 2023 May 22. PMID: 37170477.
05/2023
https://onlinelibrary.wiley.com/doi/abs/10.1111/jns.12558 

Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry
Pisciotta C, Bertini A, Tramacere I, et al. Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry. Eur J Neurol. 2023; 30: 2461-2470. doi:10.1111/ene.15860
05/2023
https://onlinelibrary.wiley.com/doi/full/10.1111/ene.15860 

An Uncommon Disease with a Common Presentation: Severe Back pain and Diffuse Neuropathy in Two Cases of Hereditary Neuropathy with Liability to Pressure Palsy
Jerath NU, et al. An Uncommon Disease with a Common Presentation: Severe Back pain and Diffuse Neuropathy in Two Cases of Hereditary Neuropathy with Liability to Pressure Palsy. Jour Clin Med Res. 2023;4(2):1-3. http://dx.doi.org/10.46889/JCMR.2023.4204

05/2023
https://www.researchgate.net/profile/Nivedita-Jerath-2/publication/371131237_An_Uncommon_Disease_with_a_Common_Presentation_Severe_Back_pain_and_Diffuse_Neuropathy_in_Two_Cases_of_Hereditary_Neuropathy_with_Liability_to_Pressure_Palsy/links/6474a9f06fb1d1682b1a08c4/An-Uncommon-Disease-with-a-Common-Presentation-Severe-Back-pain-and-Diffuse-Neuropathy-in-Two-Cases-of-Hereditary-Neuropathy-with-Liability-to-Pressure-Palsy.pdf 

Hereditary Neuropathy With Liability to Pressure Palsy Detected During the Use of Recreational Drugs
Castellucci G, Figueroa M, Sivaswamy L. Hereditary Neuropathy With Liability to Pressure Palsy Detected During the Use of Recreational Drugs. The Neurohospitalist. 2023;13(4):376-380. doi:10.1177/19418744231174396
05/2023
https://journals.sagepub.com/doi/abs/10.1177/19418744231174396 

Monomelic Multifocal Neuropathy: An Unrecognized Electrophysiological Feature of Hereditary Neuropathy with Liability to Pressure Palsies in Childhood
Lee JJ, Lee JS, Seok HY. Monomelic Multifocal Neuropathy: An Unrecognized Electrophysiological Feature of Hereditary Neuropathy with Liability to Pressure Palsies in Childhood. Neurol India. 2023 Mar-Apr;71(2):329-330. doi: 10.4103/0028-3886.375376. PMID: 37148063.
04/2023
https://neurologyindia.com/article.asp?issn=0028-3886;year=2023;volume=71;issue=2;spage=329;epage=330;aulast=Lee
(A previously healthy 10-year-old girl visited our hospital with a 3-day history of weakness and sensory disturbances in the left hand. Muscle weakness was most prominent in the left ring and little fingers, and tingling sensation existed primarily in the left thumb, index, and middle fingers. These symptoms occurred after playing Korean Jacks called Gonggi for long hours with her left elbow on the table, propping her chin in the palm of her left hand.  )

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Palu E, Järvilehto J, Pennonen J, Huber N, Herukka SK, Haapasalo A, Isohanni P, Tyynismaa H, Auranen M, Ylikallio E. Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light. Neurogenetics. 2023 Oct;24(4):291-301. doi: 10.1007/s10048-023-00729-5. Epub 2023 Aug 22. PMID: 37606798; PMCID: PMC10545620.
04/2023
https://www.springermedizin.de/rare-pmp22-variants-in-mild-to-severe-neuropathy-uncorrelated-to/25948464 

Hereditary Neuropathy with Liability to Pressure Palsy Presenting as Bilateral Foot Drop
Koç İ, Koç G, Özenç B, Odabaşı Z. Hereditary Neuropathy with Liability to Pressure Palsy Presenting as Bilateral Foot Drop. Eurasian J Med. 2023 Feb;55(1):90-92. doi: 10.5152/eurasianjmed.2023.21154. PMID: 36861874; PMCID: PMC10081114.
02/2023
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10081114/ 

Multiple tendon transfer for a case of radial nerve palsy in hereditary neuropathy with liability to pressure palsy
Palumbo F, Yamamoto M, Hirata H. Multiple tendon transfer for a case of radial nerve palsy in hereditary neuropathy with liability to pressure palsy. Nagoya J Med Sci. 2023 Feb;85(1):204-210. doi: 10.18999/nagjms.85.1.204. PMID: 36923620; PMCID: PMC10009638.
02/2023
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009638/ 

An Unusual Case of Hereditary Neuropathy With Liability to Pressure Palsy: A Diagnostic Challenge
Saurabh K, Ahmad R. An Unusual Case of Hereditary Neuropathy With Liability to Pressure Palsy: A Diagnostic Challenge. Cureus. 2023 Jan 3;15(1):e33306. doi: 10.7759/cureus.33306. PMID: 36741649; PMCID: PMC9894645.
01/2023
https://pubmed.ncbi.nlm.nih.gov/36741649/ 

Riposizionamento del farmaco Niaspan (Niacina) per il trattamento di neuropatie Charcot-Marie-Tooth caratterizzate da ipermielinizzazione focale
Bolino A, Piguet F, Alberizzi V, Pellegatta M, Rivellini C, Guerrero-Valero M, Noseda R, Brombin C, Nonis A, D'Adamo P, Taveggia C, Previtali SC. Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination. EMBO Mol Med. 2016 Dec 1;8(12):1438-1454. doi: 10.15252/emmm.201606349. PMID: 27799291; PMCID: PMC5167133.
01/2023
https://iris.unisr.it/handle/20.500.11768/136960
https://iris.unisr.it/handle/20.500.11768/136960# 

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. Heterogeneous Presentation of Hereditary Neuropathy With Liability to Pressure Palsies: Clinical and Electrodiagnostic Findings in Three Patients. Cureus. 2022 Dec 7;14(12):e32296. doi: 10.7759/cureus.32296. PMID: 36628033; PMCID: PMC9822544.
12/2022
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9822544/

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders
van den Bersselaar LR, Heytens L, Silva HCA, Reimann J, Tasca G, Díaz-Cambronero Ó, Løkken N, Hellblom A, Hopkins PM, Rueffert H, Bastian B, Vilchez JJ, Gillies R, Johannsen S, Veyckemans F, Muenster T, Klein A, Litman R, Jungbluth H, Riazi S, Voermans NC, Snoeck MMJ. European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders. Eur J Neurol. 2022 Dec;29(12):3486-3507. doi: 10.1111/ene.15526. Epub 2022 Sep 14. PMID: 35971866; PMCID: PMC9826444.
12/2022
https://pubmed.ncbi.nlm.nih.gov/35971866/
https://onlinelibrary.wiley.com/doi/10.1111/ene.15526

Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy
Kuroha Y, Ishiguro T, Tada M, Hara N, Murayama K, Kawachi I, Kasuga K, Miyashita A, Hasegawa A, Takahashi T, Matsubara N, Onodera O, Kakita A, Koike R, Ikeuchi T. Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy. Neurol Genet. 2022 Sep 27;8(5):e200030. doi: 10.1212/NXG.0000000000200030. PMID: 36176336; PMCID: PMC9516616.
10/2022
https://www.neurology.org/doi/10.1212/NXG.0000000000200030 

Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain-Barré Syndrome: A case report
Zhu J, Tong X, Li Y, Li G, Pi Z. Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain-Barré Syndrome: A case report. Medicine (Baltimore). 2022 Sep 23;101(38):e30768. doi: 10.1097/MD.0000000000030768. PMID: 36197172; PMCID: PMC9509038.
09/2022
https://pubmed.ncbi.nlm.nih.gov/36197172/ 

Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP Pitcha Chompoopong, Zhiyv Niu, Kamal Shouman et al. Muscle Nerve.
Chompoopong P, Niu Z, Shouman K, Madigan NN, Sandroni P, Berini SE, Shin AY, Brault JS, Boon AJ, Laughlin RS, Thorland E, Mandrekar J, Klein CJ. Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP. Muscle Nerve. 2022 Oct;66(4):479-486. doi: 10.1002/mus.27687. Epub 2022 Aug 11. PMID: 35894586.
07/2022
https://pubmed.ncbi.nlm.nih.gov/35894586/ 

Candidate imaging biomarkers for PMP22-related inherited neuropathies
Roth AR, Li J, Dortch RD. Candidate imaging biomarkers for PMP22-related inherited neuropathies. Ann Clin Transl Neurol. 2022 Jul;9(7):925-935. doi: 10.1002/acn3.51561. Epub 2022 Jun 3. PMID: 35656877; PMCID: PMC9268861.
07/2022
https://pubmed.ncbi.nlm.nih.gov/35656877/ 

Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies
Koike H, Furukawa S, Mouri N, Fukami Y, Iijima M, Katsuno M. Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies. Neuromuscul Disord. 2022 Jun;32(6):503-511. doi: 10.1016/j.nmd.2022.04.002. Epub 2022 Apr 9. PMID: 35501275.
06/2022
https://pubmed.ncbi.nlm.nih.gov/35501275/ 

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, Nissenkorn A, Grossman-Jonish A, Tirosh I, Vivante A, Pode-Shakked B. Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom. Ital J Pediatr. 2022 Jun 3;48(1):84. doi: 10.1186/s13052-022-01280-z. PMID: 35658923; PMCID: PMC9164845.

06/2022

https://pubmed.ncbi.nlm.nih.gov/35658923/
(A 4.5 years-old boy presented for in-patient evaluation due to refusal to walk.)

Mapping the current evidence on the anesthetic management of adult patients with neuromuscular disorders-a scoping review
van den Bersselaar LR, Gubbels M, Riazi S, Heytens L, Jungbluth H, Voermans NC, Snoeck MMJ. Mapping the current evidence on the anesthetic management of adult patients with neuromuscular disorders-a scoping review. Can J Anaesth. 2022 Jun;69(6):756-773. doi: 10.1007/s12630-022-02230-3. Epub 2022 Mar 23. PMID: 35322378; PMCID: PMC9132812.
06/2022
https://pubmed.ncbi.nlm.nih.gov/35322378/ 

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, Ibiricu Yanguas A, Gila Useros L, García de Gurtubay I. Clinical and neurophysiological findings in patients with hereditary neuropathy with liability to pressure palsy and chromosome 17p11.2 deletion. Neurologia (Engl Ed). 2022 May;37(4):243-249. doi: 10.1016/j.nrleng.2019.02.012. Epub 2021 Apr 24. PMID: 35595399.
05/2022
https://pubmed.ncbi.nlm.nih.gov/35595399/ 

Neuralgic Amyotrophy with Concomitant HNPP as a Cause of Dropped Shoulder in a Child after Human Papillomavirus Vaccination (HPV): A Case Report
Ahn H-C, Kim D-H, Cho C-H, Byun J-C, Cho J-H. Neuralgic Amyotrophy with Concomitant Hereditary Neuropathy with Liability to Pressure Palsy as a Cause of Dropped Shoulder in a Child after Human Papillomavirus Vaccination: A Case Report. Children. 2022; 9(4):528. https://doi.org/10.3390/children9040528
2022
https://www.mdpi.com/2227-9067/9/4/528/htm 

Perioperative Care for Patients with Neuromuscular Disorders in the Netherlands - A Questionnaire Study Among Anaesthesiologists, Neurologists and Clinical Geneticists
van den Bersselaar LR, Gubbels MHM, Jungbluth H, Schouten MI, van der Kooi AJ, Quinlivan R, Scheffer GJ, Riazi S, Snoeck MMJ, Voermans NC. Perioperative Care for Patients with Neuromuscular Disorders in the Netherlands - A Questionnaire Study Among Anaesthesiologists, Neurologists and Clinical Geneticists. J Neuromuscul Dis. 2022;9(6):765-775. doi: 10.3233/JND-221512. PMID: 36120788.
2022
https://pubmed.ncbi.nlm.nih.gov/36120788/ 

Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years
Gemelli C, Geroldi A, Massucco S, Trevisan L, Callegari I, Marinelli L, Ursino G, Hamedani M, Mennella G, Stara S, Maggi G, Mori L, Schenone C, Gotta F, Patrone S, Mammi A, Origone P, Prada V, Nobbio L, Mandich P, Schenone A, Bellone E, Grandis M. Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years. Life (Basel). 2022 Mar 10;12(3):402. doi: 10.3390/life12030402. PMID: 35330153; PMCID: PMC8948690.
03/2022
https://pubmed.ncbi.nlm.nih.gov/35330153/ 

Hereditary neuropathy with liability to pressure palsies (HNPP): two cases highlight the electrophysiological variability and associated diagnostic conundrum
Carroll M, McAuley C, Al-Musawi M, et al2354 Hereditary neuropathy with liability to pressure palsies (HNPP): two cases highlight the electrophysiological variability and associated diagnostic conundrumBMJ Neurology Open 2022;4:doi: 10.1136/bmjno-2022-ANZAN.120
02/2022
https://www.researchgate.net/publication/377942980_2354_Hereditary_neuropathy_with_liability_to_pressure_palsies_HNPP_two_cases_highlight_the_electrophysiological_variability_and_associated_diagnostic_conundrum

Management of anesthesia for surgery in prone position for a patient with hereditary neuropathy with liability to pressure palsies. A case report and narrative literature review
Bolger AA, Stewart PA. Anesthetic Considerations of Hereditary Neuropathy With Liability to Pressure Palsies in an Obstetric Patient: A Case Report. A A Pract. 2019 Aug 15;13(4):126-129. doi: 10.1213/XAA.0000000000001010. PMID: 30985325.
2021
http://www.actaanaesthesiologica.be/assets/40/ActaAnaestBelg-72-145.pdf 

Facial Paresthesia, a Rare Manifestation of Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report
Winter N, Vittore D, Gess B, Schulz JB, Grimm A, Dohrn MF. New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies. Neurotherapeutics. 2021 Oct;18(4):2425-2435. doi: 10.1007/s13311-021-01141-3. Epub 2021 Oct 27. PMID: 34708324; PMCID: PMC8804010.
11/2021
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8635109/pdf/fneur-12-726437.pdf
https://pubmed.ncbi.nlm.nih.gov/34708324/ 

[An 18-year-old man of hereditary neuropathy with liability to pressure palsies presenting with bilateral brachial plexopathy during military training]
Hatake S, Shimizu F, Oishi M, Kimura K, Kanda T. [An 18-year-old man of hereditary neuropathy with liability to pressure palsies presenting with bilateral brachial plexopathy during military training]. Rinsho Shinkeigaku. 2021 Oct 28;61(10):676-680. Japanese. doi: 10.5692/clinicalneurol.cn-001619. Epub 2021 Sep 25. PMID: 34565753.
10/2021
https://pubmed.ncbi.nlm.nih.gov/34565753/ 

New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies
Winter N, Vittore D, Gess B, Schulz JB, Grimm A, Dohrn MF. New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies. Neurotherapeutics. 2021 Oct;18(4):2425-2435. doi: 10.1007/s13311-021-01141-3. Epub 2021 Oct 27. PMID: 34708324; PMCID: PMC8804010.
10/2021
https://pubmed.ncbi.nlm.nih.gov/34708324/ 

European Journal of Neurology (Volume 28, Issue 11, November 2021)
Genotype and phenotype distribution of 435 patients with Charcot–Marie–Tooth disease from central south China
07/2021
https://onlinelibrary.wiley.com/doi/10.1111/ene.15024 

Asymptomatic Retinal Vein Occlusion in a 13-Year-Old With Heterozygous Deletion of the PMP22 Gene and a Diagnosis of Hereditary Neuropathy With Liability to Pressure Palsies
Saffra NA, Emborgo TS, Laureta EC, Kirsch DS, Guarini L. Asymptomatic Retinal Vein Occlusion in a 13-Year-Old With Heterozygous Deletion of the PMP22 Gene and a Diagnosis of Hereditary Neuropathy With Liability to Pressure Palsies. J Neuroophthalmol. 2022 Mar 1;42(1):e367-e370. doi: 10.1097/WNO.0000000000001233. Epub 2021 Apr 14. PMID: 33870946.
04/2021
https://pubmed.ncbi.nlm.nih.gov/33870946/ 

Atypical Presentation of Hereditary Neuropathy with Liability to Pressure Palsy: A Case Report (severe form)
04/2021
https://www.e-jend.org/journal/view.php?doi=10.18214/jend.2020.00118 

Although rare, border forms between CIDP and CMT also exist in children  
03/2021
https://www.institut-myologie.org/en/2021/03/15/although-rare-border-forms-between-cidp-and-cmt-also-exist-in-children/ 

Vagus nerve pressure palsy in hereditary neuropathy with liability to pressure palsies confirmed by neurosonography.
Steinwand P, Grimm A, Potthast GLF, Ziemann U, Krumbholz M. Vagus nerve pressure palsy in hereditary neuropathy with liability to pressure palsies confirmed by neurosonography. Clin Neurophysiol. 2021 Apr;132(4):975-976. doi: 10.1016/j.clinph.2021.02.002. Epub 2021 Feb 13. PMID: 33639452.
02/2021
https://pubmed.ncbi.nlm.nih.gov/33639452/ 

Genetic neuropathies presenting with CIDP-like features in childhood
Fernandez-Garcia MA, Stettner GM, Kinali M, Clarke A, Fallon P, Knirsch U, Wraige E, Jungbluth H. Genetic neuropathies presenting with CIDP-like features in childhood. Neuromuscul Disord. 2021 Feb;31(2):113-122. doi: 10.1016/j.nmd.2020.11.013. Epub 2020 Nov 30. PMID: 33386210.
02/2021
https://pubmed.ncbi.nlm.nih.gov/33386210/ 

New evidence for secondary axonal degeneration in demyelinating neuropathies
Moss KR, Bopp TS, Johnson AE, Höke A. New evidence for secondary axonal degeneration in demyelinating neuropathies. Neurosci Lett. 2021 Jan 23;744:135595. doi: 10.1016/j.neulet.2020.135595. Epub 2020 Dec 24. PMID: 33359733; PMCID: PMC7852893.
01/2021
https://www.sciencedirect.com/science/article/abs/pii/S030439402030865X?via%3Dihub 

Nerve wrapping for recurrent compression neuropathy: A systematic review.
Thakker A, Sharma SC, Hussain NM, Devani P, Lahiri A. Nerve wrapping for recurrent compression neuropathy: A systematic review. J Plast Reconstr Aesthet Surg. 2021 Mar;74(3):549-559. doi: 10.1016/j.bjps.2020.10.085. Epub 2020 Nov 8. PMID: 33268044.
12/2020
https://pubmed.ncbi.nlm.nih.gov/33268044/ 

A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects .
D'Arrigo S, Tessarollo V, Taroni F, Baratta S, Pantaleoni C, Schiaffi E, Ciano C. A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects. Neuropediatrics. 2020 Jun;51(3):173-177. doi: 10.1055/s-0039-3400985. Epub 2019 Nov 29. PMID: 31784971.
12/2020
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7852893/pdf/ 

Anaesthesia and neuromuscular disorders: what a neurologist needs to know
van den Bersselaar LR, Snoeck MMJ, Gubbels M, Riazi S, Kamsteeg EJ, Jungbluth H, Voermans NC. Anaesthesia and neuromuscular disorders: what a neurologist needs to know. Pract Neurol. 2020 Oct 27:practneurol-2020-002633. doi: 10.1136/practneurol-2020-002633. Epub ahead of print. PMID: 33109742; PMCID: PMC8172077.
10/2020
https://pubmed.ncbi.nlm.nih.gov/33109742/ 

The Electrophysiologic and Ultrasonographic Change after Carpal Tunnel Release in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy  
Kim YJ, Kim DH. The Electrophysiologic and Ultrasonographic Change after Carpal Tunnel Release in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy. Neurol India. 2020 Sep-Oct;68(5):1232-1234. doi: 10.4103/0028-3886.299164. PMID: 33109886.
10/2020
https://pubmed.ncbi.nlm.nih.gov/33109886/ 

Hereditary Neuropathy with Liability to Pressure Palsies
Chrestian N. Hereditary Neuropathy with Liability to Pressure Palsies. 1998 Sep 28 [updated 2020 Aug 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301566.
update 2020
https://pubmed.ncbi.nlm.nih.gov/20301566/ 

Hereditary neuropathy with liability to pressure palsies
Attarian S, Fatehi F, Rajabally YA, Pareyson D. Hereditary neuropathy with liability to pressure palsies. J Neurol. 2020 Aug;267(8):2198-2206. doi: 10.1007/s00415-019-09319-8. Epub 2019 Apr 15. PMID: 30989370.
08/2020
https://pubmed.ncbi.nlm.nih.gov/30989370/ 

Fatigue in patients with hereditary neuropathy with liability to pressure palsies.
Fritz NE, Chen Y, Waters L, Saba S, Hackett M, Mada FC, Li J. Fatigue in patients with hereditary neuropathy with liability to pressure palsies. Ann Clin Transl Neurol. 2020 Aug;7(8):1400-1409. doi: 10.1002/acn3.51133. Epub 2020 Jul 28. PMID: 32856791; PMCID: PMC7448142.
08/2020
https://pubmed.ncbi.nlm.nih.gov/32856791/ 

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. Paternal gender specificity and mild phenotypes in Charcot–Marie–Tooth type 1A patients with de novo 17p12 rearrangements. Mol Genet Genomic Med. 2020; 8:e1380. https://doi.org/10.1002/mgg3.1380
07/2020
https://onlinelibrary.wiley.com/doi/10.1002/mgg3.1380 

Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease
Liu X, Duan X, Zhang Y, Fan D. Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease. Front Neurol. 2020 Jul 3;11:630. doi: 10.3389/fneur.2020.00630. PMID: 32719652; PMCID: PMC7347970.
07/2020
https://pubmed.ncbi.nlm.nih.gov/32719652/ 

Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center
Gentile L, Russo M, Fabrizi GM, Taioli F, Ferrarini M, Testi S, Alfonzo A, Aguennouz M, Toscano A, Vita G, Mazzeo A. Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center. Neurol Sci. 2020 May;41(5):1239-1243. doi: 10.1007/s10072-019-04219-1. Epub 2020 Jan 4. PMID: 31902012.
05/2020
https://pubmed.ncbi.nlm.nih.gov/31902012/ 

Quality of life in hereditary neuropathy with liability to pressure palsies is as impaired as in Charcot-Marie-Tooth disease type 1A
Bjelica B, Peric S, Bozovic I, Jankovic M, Brankovic M, Palibrk A, Rakocevic Stojanovic V. Quality of life in hereditary neuropathy with liability to pressure palsies is as impaired as in Charcot-Marie-Tooth disease type 1A. Acta Neurol Belg. 2021 Dec;121(6):1481-1486. doi: 10.1007/s13760-020-01355-w. Epub 2020 Apr 25. PMID: 32335868.
04/2020
https://pubmed.ncbi.nlm.nih.gov/32335868/ 

Hereditary Polyneuropathies
Ferbert A, Roth C. Hereditäre Polyneuropathien [Hereditary Polyneuropathies]. Fortschr Neurol Psychiatr. 2020 Mar;88(3):198-209. German. doi: 10.1055/a-1009-2270. Epub 2020 Mar 31. PMID: 32232809.  
03/2020
https://pubmed.ncbi.nlm.nih.gov/32232809/ 

Experimental therapy with progesterone on a mouse model for hereditary neuropathy with liability to pressure palsies (HNPP)
02/2020
https://ediss.uni-goettingen.de/handle/21.11130/00-1735-0000-0005-1341-C

Tetraspan myelin protein PMP22 and demyelinating peripheral neuropathies: New facts and hypotheses
Müller HW. Tetraspan myelin protein PMP22 and demyelinating peripheral neuropathies: new facts and hypotheses. Glia. 2000 Jan 15;29(2):182-5. doi: 10.1002/(sici)1098-1136(20000115)29:2<182::aid-glia12>3.3.co;2-b. PMID: 10625337.
12/2019
https://onlinelibrary.wiley.com/doi/10.1002/%28SICI%291098-1136%2820000115%2929%3A2%3C182%3A%3AAID-GLIA12%3E3.0.CO%3B2-K 

Length-dependent MRI of hereditary neuropathy with liability to pressure palsies.
Pridmore M, Castoro R, McCollum MS, Kang H, Li J, Dortch R. Length-dependent MRI of hereditary neuropathy with liability to pressure palsies. Ann Clin Transl Neurol. 2020 Jan;7(1):15-25. doi: 10.1002/acn3.50953. Epub 2019 Dec 24. PMID: 31872979; PMCID: PMC6952310.
12/2019
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6952310/pdf/ACN3-7-15.pdf
https://onlinelibrary.wiley.com/doi/10.1002/acn3.50953 (Annals of Clinical and Translational Neurology: Volume 7, Issue 1, January 2020)

Spinal anaesthesia for elective caesarean section in a patient with hereditary neuropathy with liability to pressure palsies
Samuel K, Mead K, Cominos T, Weale N. Spinal anaesthesia for elective caesarean section in a patient with hereditary neuropathy with liability to pressure palsies. Int J Obstet Anesth. 2019 Nov;40:162-163. doi: 10.1016/j.ijoa.2019.05.004. Epub 2019 May 16. PMID: 31229414.
11/2019
https://pubmed.ncbi.nlm.nih.gov/31229414/ 

A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects
D'Arrigo S, Tessarollo V, Taroni F, Baratta S, Pantaleoni C, Schiaffi E, Ciano C. A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects. Neuropediatrics. 2020 Jun;51(3):173-177. doi: 10.1055/s-0039-3400985. Epub 2019 Nov 29. PMID: 31784971.
11/2019
https://pubmed.ncbi.nlm.nih.gov/31784971/ 

Pain and small-fiber affection in hereditary neuropathy with liability to pressure palsies (HNPP).
Dukefoss TT, Kleggetveit IP, Helås T, Jørum E. Pain and small-fiber affection in hereditary neuropathy with liability to pressure palsies (HNPP). Scand J Pain. 2019 Dec 18;20(1):61-68. doi: 10.1515/sjpain-2019-0090. PMID: 31536037.
09/2019
https://pubmed.ncbi.nlm.nih.gov/31536037/ 

Anesthetic Considerations of Hereditary Neuropathy With Liability to Pressure Palsies in an Obstetric Patient: A Case Report
Bolger AA, Stewart PA. Anesthetic Considerations of Hereditary Neuropathy With Liability to Pressure Palsies in an Obstetric Patient: A Case Report. A A Pract. 2019 Aug 15;13(4):126-129. doi: 10.1213/XAA.0000000000001010. PMID: 30985325.
08/2019
https://pubmed.ncbi.nlm.nih.gov/30985325/ 

Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?
Endres D, Maier SJ, Ziegler C, Nickel K, Riering AN, Berger B, Lambeck J, Fritz M, Gläser B, Stock F, Dacko M, Lange T, Mader I, Domschke K, Tebartz van Elst L. Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link? Front Psychiatry. 2019 May 2;10:270. doi: 10.3389/fpsyt.2019.00270. PMID: 31118906; PMCID: PMC6506456.
05/2019
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506456/ 

Wrist drop in an arcade dancing game: Unusual sudden bilateral radial palsy
05/2019
https://www.sciencedirect.com/science/article/abs/pii/S096089661831280X 

Rodent models with expression of PMP22: Relevance to dysmyelinating CMT and HNPP
Jouaud M, Mathis S, Richard L, Lia AS, Magy L, Vallat JM. Rodent models with expression of PMP22: Relevance to dysmyelinating CMT and HNPP. J Neurol Sci. 2019 Mar 15;398:79-90. doi: 10.1016/j.jns.2019.01.030. Epub 2019 Jan 21. PMID: 30685714.
03/2019
https://pubmed.ncbi.nlm.nih.gov/30685714/ 

Hereditary neuropathy with liability to pressure palsies
Attarian S, Fatehi F, Rajabally YA, Pareyson D. Hereditary neuropathy with liability to pressure palsies. J Neurol. (2019) 267:2198–206. doi: 10.1007/s00415-019-09319-8
review: J Neurol. 2020 Aug;267(8):2198-2206. doi: 10.1007/s00415-019-09319-8. Epub 2019 Apr 15.
2019
https://pubmed.ncbi.nlm.nih.gov/30989370/ 

Journal of the Peripheral Nervous System (Volume 24, Issue 1: March 2019)
Genetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain)
12/2018
https://onlinelibrary.wiley.com/doi/10.1111/jns.12299 

Hereditary Neuropathy with Liability to Pressure Palsies: A Rare Condition That Presents with Common Symptoms: A Case Report
12/2018
https://journals.lww.com/jbjscc/abstract/2018/12000/hereditary_neuropathy_with_liability_to_pressure.20.aspx 

Hereditary Neuropathy with Liability to Pressure Palsies: A Rare Condition That Presents with Common Symptoms: A Case Report.
Mota PTD, Maio M, Sapage R, Branco C, Pintado C. Hereditary Neuropathy with Liability to Pressure Palsies: A Rare Condition That Presents with Common Symptoms: A Case Report. JBJS Case Connect. 2018 Oct-Dec;8(4):e95. doi: 10.2106/JBJS.CC.18.00132. PMID: 30489379.

11/2018

https://pubmed.ncbi.nlm.nih.gov/30489379/
(Case: A 13-year-old girl presented with paresthesia of the fourth and fifth fingers and the dorsal ulnar surface of the left hand.)

A Life-Saving Palsy: Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Presenting As Hand Weakness during Cardiopulmonary Resuscitation (CPR) Training
Hughes H, Tubridy N, Connolly S. A Life-Saving Palsy: Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Presenting As Hand Weakness during Cardiopulmonary Resuscitation (CPR) Training. Ir Med J. 2018 Sep 10;111(8):808. PMID: 30547545.
09/2018
https://imj.ie/a-life-saving-palsy-hereditary-neuropathy-with-liability-to-pressure-palsies-hnpp-presenting-as-hand-weakness-during-cardiopulmonary-resuscitation-cpr-training/ 

A dual role for Integrin α6β4 in modulating hereditary neuropathy with liability to pressure palsies
Poitelon Y, Matafora V, Silvestri N, Zambroni D, McGarry C, Serghany N, Rush T, Vizzuso D, Court FA, Bachi A, Wrabetz L, Feltri ML. A dual role for Integrin α6β4 in modulating hereditary neuropathy with liability to pressure palsies. J Neurochem. 2018 May;145(3):245-257. doi: 10.1111/jnc.14295. Epub 2018 Feb 13. PMID: 29315582; PMCID: PMC5924464.

05/2018

https://onlinelibrary.wiley.com/doi/ftr/10.1111/jnc.14295

Peripheral neuropathy in diabetes: it's not always what it looks like
Maltese G, Tan SV, Bruno E, Brackenridge A, Thomas S. Peripheral neuropathy in diabetes: it's not always what it looks like. Diabet Med. 2018 Oct;35(10):1457-1459. doi: 10.1111/dme.13701. PMID: 29862581.

05/2018

https://onlinelibrary.wiley.com/doi/10.1111/dme.13701

Elderly-onset case of hereditary neuropathy with liability to pressure palsies: A case report

06/2018

https://onlinelibrary.wiley.com/doi/10.1111/ncn3.12214

Clinical Reasoning: A teenager with left arm weakness
Al-Ghamdi F, Vytopil M, Ghosh PS. Clinical Reasoning: A teenager with left arm weakness. Neurology. 2018 Mar 6;90(10):e907-e910. doi: 10.1212/WNL.0000000000005070. PMID: 29507141.
03/2018
https://www.neurology.org/doi/10.1212/WNL.0000000000005070

Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: neurophysiological data and proposed electrodiagnostic criteria.  Robert-Varvat F, Jousserand G, Bouhour F, Vial C, Cintas P, Echaniz-Laguna A, Delmont E, Clavelou P, Chauplannaz G, Jomir L, Pereon Y, Leonard-Louis S, Manel V, Antoine JC, Lacour A, Camdessanche JP. Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria. Muscle Nerve. 2018 Feb;57(2):217-221. doi: 10.1002/mus.25666. Epub 2017 Jun 11. PMID: 28407266.
2018
https://onlinelibrary.wiley.com/doi/abs/10.1002/mus.25666 

Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy
Choi K, Ahn SH, Baek SH, Kim JS, Choi SJ, Shin JY, Kim SM, Hong YH, Sung JJ. Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy. J Clin Neurosci. 2018 Feb;48:90-92. doi: 10.1016/j.jocn.2017.10.049. Epub 2017 Nov 11. PMID: 29137918.
11/2017
https://pubmed.ncbi.nlm.nih.gov/29137918/ 

Hereditary neuropathy with liability to pressure palsy presenting as a bilateral brachial plexopathy  
Morgado J, Sousa AP, Alves P, Medeiros L. Hereditary neuropathy with liability to pressure palsy presenting as a bilateral brachial plexopathy. Neurologia. 2017 Nov-Dec;32(9):626-629. English, Spanish. doi: 10.1016/j.nrl.2015.11.017. Epub 2016 Feb 10. PMID: 26874568.
11/2017
https://pubmed.ncbi.nlm.nih.gov/26874568/ 

Characterisation of pain in people with hereditary neuropathy with liability to pressure palsy  
10/2017
https://link.springer.com/article/10.1007%2Fs00415-017-8648-z 

Davidenkow syndrome: A phenotypic variant of hereditary neuropathy with liability to pressure palsies
Wong E, DeOrchis VS, Stein B, Herskovitz S. Davidenkow syndrome: A phenotypic variant of hereditary neuropathy with liability to pressure palsies. Muscle Nerve. 2018 Mar;57(3):E108-E110. doi: 10.1002/mus.25985. Epub 2017 Oct 24. PMID: 28981956.
10/2017
https://pubmed.ncbi.nlm.nih.gov/28981956/ 

Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies
08/2017
https://onlinelibrary.wiley.com/doi/10.1002/mus.25766 

Muscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies
Kodaira M, Kodama S, Kamijo Y, Kaneko T, Sekijima Y. Muscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies. Brain Behav. 2019 Feb;9(2):e01231. doi: 10.1002/brb3.1231. Erratum for: Brain Behav. 2017 Jul 27;7(9):e00783. PMID: 30779336; PMCID: PMC6379590. 
07/2017 (Published erratum: 2019)
https://pubmed.ncbi.nlm.nih.gov/28948078/ 

Carpal tunnel syndrome in inherited neuropathies: a retrospective survey
Panosyan FB, Kirk CA, Marking D, Reilly MM, Scherer SS, Shy ME, Herrmann DN. Carpal tunnel syndrome in inherited neuropathies: A retrospective survey. Muscle Nerve. 2018 Mar;57(3):388-394. doi: 10.1002/mus.25742. Epub 2017 Jul 21. PMID: 28692128; PMCID: PMC5762426.
07/2017
https://pubmed.ncbi.nlm.nih.gov/28692128/

Acute Demyelinating Polyneuropathy as Presentation of Hereditary Neuropathy With Liability to Pressure Palsies in a Patient Who Exercised Regularly in the Army
Perugula M, Uppal G, Chuquilin M. Acute Demyelinating Polyneuropathy as Presentation of Hereditary Neuropathy With Liability to Pressure Palsies in a Patient Who Exercised Regularly in the Army. J Clin Neuromuscul Dis. 2017 Jun;18(4):228-234. doi: 10.1097/CND.0000000000000145. PMID: 28538254.
06/2017
https://pubmed.ncbi.nlm.nih.gov/28538254/ 

A case report of hereditary neuropathy with liability to pressure palsies accompanied by type 2 diabetes mellitus and psoriasis   
05/2017
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5428644/pdf/medi-96-e6922.pdf 

Muscle & Nerve (Volume 57, Issue 2: February 2018)
Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria
04/2017
https://onlinelibrary.wiley.com/doi/10.1002/mus.25666 

Electrodiagnostic Characterization of Hereditary Neuropathy With Liability to Pressure Palsies
03/2017
https://journals.lww.com/jcnmd/abstract/2017/03000/electrodiagnostic_characterization_of_hereditary.1.aspx 

Neurodegeneration, first edition
Peripheral Nerve Neuropathies Including Charcot–Marie–Tooth Disease
02/2017
https://onlinelibrary.wiley.com/doi/10.1002/9781118661895.ch19 

Characterisation of pain in people with hereditary neuropathy with liability to pressure palsy
Beales D, Fary R, Little C, Nambiar S, Sveinall H, Yee YL, Tampin B, Mitchell T. Characterisation of pain in people with hereditary neuropathy with liability to pressure palsy. J Neurol. 2017 Dec;264(12):2464-2471. doi: 10.1007/s00415-017-8648-z. Epub 2017 Oct 27. PMID: 29079893.
2017
https://pubmed.ncbi.nlm.nih.gov/29079893/ 

Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination
Bolino A, Piguet F, Alberizzi V, Pellegatta M, Rivellini C, Guerrero-Valero M, Noseda R, Brombin C, Nonis A, D'Adamo P, Taveggia C, Previtali SC. Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination. EMBO Mol Med. 2016 Dec 1;8(12):1438-1454. doi: 10.15252/emmm.201606349. PMID: 27799291; PMCID: PMC5167133.
12/2016
https://pubmed.ncbi.nlm.nih.gov/27799291/

Hereditary Neuropathy With Liability to Pressure Palsies: Diverse Phenotypes in Childhood
12/2016
https://journals.lww.com/jcnmd/abstract/2016/12000/hereditary_neuropathy_with_liability_to_pressure.4.aspx 

Afferent Visual Pathway Affection in Patients with PMP22 Deletion-Related Hereditary Neuropathy with Liability to Pressure Palsies    
10/2016
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066968/pdf/pone.0164617.pdf 

Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP
Hu B, Arpag S, Zhang X, Möbius W, Werner H, Sosinsky G, Ellisman M, Zhang Y, Hamilton A, Chernoff J, Li J. Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP. PLoS Genet. 2016 Sep 1;12(9):e1006290. doi: 10.1371/journal.pgen.1006290. PMID: 27583434; PMCID: PMC5008806.
09/2016
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5008806/ 

Bell’s palsy and hereditary neuropathy with liability to pressure palsy (HNPP): Is there a common genetic background?  
07/2016
https://www.jocn-journal.com/article/S0967-5868(12)00650-9/fulltext  

Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies   
07/2016
https://www.jocn-journal.com/article/S0967-5868(12)00650-9/fulltext  

Fibular nerve palsy after hip replacement: Not only surgeon responsibility. Hereditary neuropathy with liability to pressure palsies (HNPP) a rare cause of nerve liability
Logroscino G, Del Tedesco F, Cambise C, Coraci D, Donati F, Santilli V, Padua L. Fibular nerve palsy after hip replacement: Not only surgeon responsibility. Hereditary neuropathy with liability to pressure palsies (HNPP) a rare cause of nerve liability. Orthop Traumatol Surg Res. 2016 Jun;102(4):529-31. doi: 10.1016/j.otsr.2016.02.013. Epub 2016 Apr 12. PMID: 27084090.
06/2016
https://pubmed.ncbi.nlm.nih.gov/27084090/
https://www.em-consulte.com/article/1055368/paralysie-dans-le-territoire-du-nerf-fibulaire-apr 

Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP)
Cortese A, Piccolo G, Lozza A, Schreiber A, Callegari I, Moglia A, Alfonsi E, Pareyson D. Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP). Neuromuscul Disord. 2016 Jul;26(7):455-8. doi: 10.1016/j.nmd.2016.05.007. Epub 2016 May 12. PMID: 27241821.
05/2016
https://pubmed.ncbi.nlm.nih.gov/27241821/ 

Compression of Root Level in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy Diagnosed by Magnetic Resonance Imaging
Park D, Ryu JS, Kim KJ. Compression of Root Level in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy Diagnosed by Magnetic Resonance Imaging. Am J Phys Med Rehabil. 2016 Sep;95(9):e140-4. doi: 10.1097/PHM.0000000000000515. PMID: 27149588.
05/2016
https://pubmed.ncbi.nlm.nih.gov/27149588/ 

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update
Spagnoli C, Iodice A, Salerno GG, Frattini D, Bertani G, Fusco C. Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update. Neuromuscul Disord. 2016 Jun;26(6):394. doi: 10.1016/j.nmd.2016.04.007. Epub 2016 Apr 8. PMID: 27137093.
05/2016

https://pubmed.ncbi.nlm.nih.gov/27137093/

HNPP: not only entrapment sites. Ultrasound digital nerve abnormalities in a guitar player
Cacciavillani M, Padua L, Gasparotti R, Briani C. HNPP: not only entrapment sites. Ultrasound digital nerve abnormalities in a guitar player. Neurol Sci. 2016 Jun;37(6):999-1000. doi: 10.1007/s10072-015-2449-x. Epub 2016 Apr 7. PMID: 27056376.
04/2016
https://pubmed.ncbi.nlm.nih.gov/27056376/?dopt=Abstract 

A Case of Apoplexy Attack-Like Neuropathy due to Hereditary Neuropathy with Liability to Pressure Palsies in a Patient Diagnosed with Chronic Cerebral Infarction
Hachisuka A, Matsushima Y, Hachisuka K, Saeki S. A Case of Apoplexy Attack-Like Neuropathy due to Hereditary Neuropathy with Liability to Pressure Palsies in a Patient Diagnosed with Chronic Cerebral Infarction. J Stroke Cerebrovasc Dis. 2016 Jun;25(6):e83-5. doi: 10.1016/j.jstrokecerebrovasdis.2016.03.031. Epub 2016 Apr 11. PMID: 27080157.
04/2016
https://pubmed.ncbi.nlm.nih.gov/27080157/  

The broad clinical spectrum of hereditary neuropathy with liability to pressure palsy (HNPP)
02/2016
https://www.scielo.br/j/anp/a/zfmS84nMD4jwQk4pycj34XP/?lang=en 

Low back pain with radicular symptoms as a presentation of hereditary neuropathy with liability to pressure palsies: the diagnostic challenge of an atypical presentation
Choi YH, Dunn B. Low back pain with radicular symptoms as a presentation of hereditary neuropathy with liability to pressure palsies: the diagnostic challenge of an atypical presentation. Muscle Nerve. 2016 Apr;53(4):655-6. doi: 10.1002/mus.25040. Epub 2016 Feb 8. PMID: 26773980.  
01/2016
https://pubmed.ncbi.nlm.nih.gov/26773980/ 

Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures
Kramer M, Ly A, Li J. Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures. Am J Orthop (Belle Mead NJ). 2016 Jan;45(1):E27-8. PMID: 26761923; PMCID: PMC4876709.
01/2016
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4876709/ 

Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP
12/2015
https://onlinelibrary.wiley.com/doi/10.1111/cge.12714 

Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?
12/2015
https://onlinelibrary.wiley.com/doi/10.1111/jns.12152

Chronic Inflammatory Demyelinating Polyneuropathy Manifesting as Neuropathy With Liability to Pressure Palsies: A Case Report
Shah A, Rison RA, Beydoun SR. Chronic Inflammatory Demyelinating Polyneuropathy Manifesting as Neuropathy With Liability to Pressure Palsies: A Case Report. J Clin Neuromuscul Dis. 2015 Dec;17(2):78-83. doi: 10.1097/CND.0000000000000094. PMID: 26583495.  
12/2015
https://pubmed.ncbi.nlm.nih.gov/26583495/ 

Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis
11/2015
https://www.hindawi.com/journals/crig/2015/738469/

DTI Study of Cerebral Normal-Appearing White Matter in Hereditary Neuropathy With Liability to Pressure Palsies (HNPP)
Wang WW, Song CL, Huang L, Song QW, Liang ZH, Wei Q, Hu JN, Miao YW, Wu B, Xie L. DTI Study of Cerebral Normal-Appearing White Matter in Hereditary Neuropathy With Liability to Pressure Palsies (HNPP). Medicine (Baltimore). 2015 Oct;94(43):e1909. doi: 10.1097/MD.0000000000001909. PMID: 26512614; PMCID: PMC4985427.
10/2015
https://pubmed.ncbi.nlm.nih.gov/26512614/ 

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
(bulbar palsy and tongue atrophy - cranial nerve involvment)  
07/2015
https://onlinelibrary.wiley.com/doi/full/10.1111/ncn3.12024 

Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience
06/2015
https://onlinelibrary.wiley.com/doi/abs/10.1111/jns.12125 

Maintenance de la myéline périphérique : physiologie et physiopathologie
06/2015
https://theses.hal.science/tel-01166028v1/document 

[Peripheral nerve entrapment neuropathy for neurosurgeon]
Kim K, Isu T. [Peripheral nerve entrapment neuropathy for neurosurgeon]. No Shinkei Geka. 2015 May;43(5):387-97. Japanese. doi: 10.11477/mf.1436203035. PMID: 25926535.
05/2015
https://pubmed.ncbi.nlm.nih.gov/25926535/ 

Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion
Hirt N, Eggermann K, Hyrenbach S, Lambeck J, Busche A, Fischer J, Rudnik-Schöneborn S, Gaspar H. Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion. Neurology. 2015 Apr 14;84(15):1605-6. doi: 10.1212/WNL.0000000000001470. Epub 2015 Mar 20. PMID: 25795643.
03/2015
https://www.neurology.org/doi/full/10.1212/WNL.0000000000001470

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases 
01/2015
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4284369/ 

Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease
01/2015
https://www.hindawi.com/journals/bmri/2015/960404/

PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1
12/2014
https://onlinelibrary.wiley.com/doi/10.1002/mus.24550 

Hereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy
Wedderburn S, Pateria P, Panegyres PK. Hereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy. Case Rep Neurol. 2014 Dec 12;6(3):281-6. doi: 10.1159/000369921. PMID: 25685136; PMCID: PMC4296227.
12/2014
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296227/

Journal of the Peripheral Nervous System (Volume 19, Issue 4: December 2014)
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population
11/2014
https://onlinelibrary.wiley.com/doi/10.1111/jns.12092

PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts
Lee S, Amici S, Tavori H, Zeng WM, Freeland S, Fazio S, Notterpek L. PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts. J Neurosci. 2014 Nov 26;34(48):16140-52. doi: 10.1523/JNEUROSCI.1908-14.2014. PMID: 25429154; PMCID: PMC4244477.
11/2014
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244477/pdf/zns16140.pdf 

Does hereditary neuropathy with liability to pressure palsy predispose to schwannomatosis?
Grapperon AM, Franques J, Roche PH, Battaglia F. Does hereditary neuropathy with liability to pressure palsy predispose to schwannomatosis? J Clin Neurol. 2014 Oct;10(4):371-2. doi: 10.3988/jcn.2014.10.4.371. Epub 2014 Oct 6. PMID: 25324890; PMCID: PMC4198722.
10/2014
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198722/pdf/jcn-10-371.pdf 

Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy
Topakian R, Wimmer S, Pischinger B, Pichler R. Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. BMJ Case Rep. 2014 Oct 17;2014:bcr2014206883. doi: 10.1136/bcr-2014-206883. PMID: 25326571; PMCID: PMC4202070.
10/2014
https://pubmed.ncbi.nlm.nih.gov/25326571/ 

Genetic factors for nerve susceptibility to injuries – lessons from PMP22 deficiency
09/2014
https://journals.lww.com/nrronline/fulltext/2014/09180/genetic_factors_for_nerve_susceptibility_to.3.aspx 

Pain in hereditary neuropathy with liability to pressure palsy: An association with fibromyalgia syndrome?
07/2014
https://onlinelibrary.wiley.com/doi/abs/10.1002/mus.24331 

Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experience  
06/2014
https://www.jns-journal.com/article/S0022-510X(14)00207-X/fulltext 

Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing
06/2014
https://www.hindawi.com/journals/bmri/2014/210401/

Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies
Farrar MA, Park SB, Krishnan AV, Kiernan MC, Lin CS. Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies. Muscle Nerve. 2014 Jun;49(6):858-65. doi: 10.1002/mus.24085. PMID: 24752454.  
04/2014
https://pubmed.ncbi.nlm.nih.gov/24752454/
https://onlinelibrary.wiley.com/doi/10.1002/mus.24085 (Muscle & Nerve: Volume 49, Issue 6, June 2014)

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy
03/2014
https://onlinelibrary.wiley.com/doi/10.1002/mus.24250 

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies
van Paassen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de VM. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies. Orphanet J Rare Dis. (2014) 9:38. doi: 10.1186/1750-1172-9-38
03/2014
https://pubmed.ncbi.nlm.nih.gov/24646194/ 

Acta Neurologica Scandinavia (volum 130, Issue 1, July 2014)
Optic and auditory pathway dysfunction in demyelinating neuropathies
02/2014
https://onlinelibrary.wiley.com/doi/10.1111/ane.12226 

Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report.
Kim SH, Yang SN, Yoon JS, Park BJ. Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report. Ann Rehabil Med. 2014 Feb;38(1):109-15. doi: 10.5535/arm.2014.38.1.109. Epub 2014 Feb 25. PMID: 24639934; PMCID: PMC3953352.
02/2014
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953352/ 

Abnormal junctions and permeability of myelin in PMP22-deficient nerves
Guo J, Wang L, Zhang Y, Wu J, Arpag S, Hu B, Imhof BA, Tian X, Carter BD, Suter U, Li J. Abnormal junctions and permeability of myelin in PMP22-deficient nerves. Ann Neurol. 2014 Feb;75(2):255-65. doi: 10.1002/ana.24086. Epub 2014 Feb 20. PMID: 24339129; PMCID: PMC4206215.
12/2013
https://pubmed.ncbi.nlm.nih.gov/24339129/
https://onlinelibrary.wiley.com/doi/10.1002/ana.24086 

Is carpal tunnel decompression warranted for HNPP?
Earle N, Zochodne DW. Is carpal tunnel decompression warranted for HNPP? J Peripher Nerv Syst. 2013 Dec;18(4):331-5. doi: 10.1111/jns5.12047. PMID: 24171697.
11/2013
https://pubmed.ncbi.nlm.nih.gov/24171697/ 

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination
Remiche G, Abramowicz M, Mavroudakis N. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination. Acta Neurol Belg. 2013 Dec;113(4):519-22. doi: 10.1007/s13760-013-0255-x. Epub 2013 Oct 22. PMID: 24146347.
10/2013
https://pubmed.ncbi.nlm.nih.gov/24146347/ 

Restless leg syndrome in different types of demyelinating neuropathies: a single-center pilot study
Luigetti M, Del Grande A, Testani E, Bisogni G, Losurdo A, Giannantoni NM, Mazza S, Sabatelli M, Della Marca G. Restless leg syndrome in different types of demyelinating neuropathies: a single-center pilot study. J Clin Sleep Med. 2013 Sep 15;9(9):945-9. doi: 10.5664/jcsm.3000. PMID: 23997707; PMCID: PMC3746722.
09/2013
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746722/pdf/jcsm.9.9.945.pdf 

Hereditary Neuropathy With Liability to Pressure Palsy Two Cases of Difficult Diagnosis
09/2013
https://journals.lww.com/jcnmd/abstract/2013/09000/hereditary_neuropathy_with_liability_to_pressure.6.aspx 

Hereditary neuropathy with liability to pressure palsy (HNPP): a diagnostic trap
Ragois P, Didailler P, Rizzi P. Neuropathie héréditaire avec hypersensibilité à la pression: un piège diagnostique: à propos de deux cas [Hereditary neuropathy with liability to pressure palsy (HNPP): a diagnostic trap]. Chir Main. 2013 Sep;32(4):262-4. French. doi: 10.1016/j.main.2013.06.004. Epub 2013 Jul 26. PMID: 23953745.
07/2013
https://pubmed.ncbi.nlm.nih.gov/23953745/

Hereditary neuropathy with liability to pressure palsy emerging after hypothyroidism
07/2013
https://onlinelibrary.wiley.com/doi/10.1111/ncn3.41

Bell's palsy and hereditary neuropathy with liability to pressure palsy (HNPP): is there a common genetic background?
Karadima G, Kokotis P, Kalfakis N, Vassilopoulos D, Panas M. Bell's palsy and hereditary neuropathy with liability to pressure palsy (HNPP): is there a common genetic background? J Clin Neurosci. 2013 Jul;20(7):1042. doi: 10.1016/j.jocn.2012.10.017. Epub 2013 Apr 29. PMID: 23635862.
05/2013
https://pubmed.ncbi.nlm.nih.gov/23635862/ 

The PMP22 gene and its related diseases
Li J, Parker B, Martyn C, Natarajan C, Guo J. The PMP22 gene and its related diseases. Mol Neurobiol. 2013 Apr;47(2):673-98. doi: 10.1007/s12035-012-8370-x. Epub 2012 Dec 7. PMID: 23224996; PMCID: PMC3594637.
04/2013
https://pubmed.ncbi.nlm.nih.gov/23224996/ 

Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP
Schreiber S, Oldag A, Kornblum C, Kollewe K, Kropf S, Schoenfeld A, Feistner H, Jakubiczka S, Kunz WS, Scherlach C, Tempelmann C, Mawrin C, Dengler R, Schreiber F, Goertler M, Vielhaber S. Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP. Muscle Nerve. 2013 Mar;47(3):385-95. doi: 10.1002/mus.23681. Epub 2013 Feb 4. PMID: 23381770.
03/2013
https://pubmed.ncbi.nlm.nih.gov/23381770/
https://onlinelibrary.wiley.com/doi/10.1002/mus.23681

Hereditary Neuropathy with Liability to Pressure Palsy: A Recurrent and Bilateral Foot Drop Case Report
2013
https://www.hindawi.com/journals/cripe/2013/230541/

Genetic disruption of Pten in a novel mouse model of tomaculous neuropathy
2012
https://www.embopress.org/doi/full/10.1002/emmm.201200227 

Electrophysiological comparison between males and females in HNPP
2012
(PDF) Electrophysiological comparison between males and females in HNPP (researchgate.net) 

The PMP22 Gene and its related diseases
Li J, Parker B, Martyn C, Natarajan C, Guo J. The PMP22 gene and its related diseases. Mol Neurobiol. 2013 Apr;47(2):673-98. doi: 10.1007/s12035-012-8370-x. Epub 2012 Dec 7. PMID: 23224996; PMCID: PMC3594637.
2012
https://pubmed.ncbi.nlm.nih.gov/23224996/ 

Journal of the Peripheral Nervous System (Volume 17, Issue 4: December 2012)
Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed
12/2012
https://onlinelibrary.wiley.com/doi/10.1111/j.1529-8027.2012.00440.x 

Electrophysiological comparison between males and females in HNPP
Manganelli F, Pisciotta C, Dubbioso R, Maruotti V, Iodice R, Notturno F, Ruggiero L, Vitale C, Nolano M, Uncini A, Santoro L. Electrophysiological comparison between males and females in HNPP. Neurol Sci. 2013 Aug;34(8):1429-32. doi: 10.1007/s10072-012-1258-8. Epub 2012 Dec 4. PMID: 23207550.
12/2012
https://pubmed.ncbi.nlm.nih.gov/23207550/ 

Massive indoor cycling-induced rhabdomyolysis in a patient with hereditary neuropathy with liability to pressure palsy
Benish M, Zeitlin I, Deshet D, Beigel Y. Massive indoor cycling-induced rhabdomyolysis in a patient with hereditary neuropathy with liability to pressure palsy. Isr Med Assoc J. 2012 Nov;14(11):712-4. PMID: 23240383.
12/2012
https://pubmed.ncbi.nlm.nih.gov/23240383/ 

Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study
Chanson JB, Echaniz-Laguna A, Blanc F, Lacour A, Ballonzoli L, Kremer S, Namer IJ, Lannes B, Tranchant C, Vermersch P, de Seze J. Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study. J Neurol Neurosurg Psychiatry. 2013 Apr;84(4):392-7. doi: 10.1136/jnnp-2012-303725. Epub 2012 Dec 15. PMID: 23243264.
12/2012
https://pubmed.ncbi.nlm.nih.gov/23243264/ 

Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies
12/2012
https://onlinelibrary.wiley.com/doi/10.1111/j.1529-8027.2012.00437.x 

Sonographic features in hereditary neuropathy with liability to pressure palsies
Hooper DR, Lawson W, Smith L, Baker SK. Sonographic features in hereditary neuropathy with liability to pressure palsies. Muscle Nerve. 2011 Dec;44(6):862-7. doi: 10.1002/mus.22199. PMID: 22102454.
11/2012
https://pubmed.ncbi.nlm.nih.gov/22102454/ 

Muscle & nerve (Volume 47, Issue 6, June 2013)
Neuromuscular ultrasound in polyneuropathies and motor neuron disease
11/2012
https://onlinelibrary.wiley.com/doi/10.1002/mus.23737

Hereditary neuropathy with liability to pressure palsy presenting with hand drop in a young child.
Sobreira I, Sousa C, Raposo A, Soares MR, Soudo A, Dias AI. Hereditary neuropathy with liability to pressure palsy presenting with hand drop in a young child. Case Rep Pediatr. 2012;2012:382657. doi: 10.1155/2012/382657. Epub 2012 Aug 16. PMID: 22953141; PMCID: PMC3431065. 

09/2012

https://pubmed.ncbi.nlm.nih.gov/22953141/

Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP

09/2012

https://onlinelibrary.wiley.com/doi/10.1002/mus.23681

Inherited focal, episodic neuropathies
Chance, P.F. Inherited focal, episodic neuropathies. Neuromol Med 8, 159–173 (2006). https://doi.org/10.1385/NMM:8:1-2:159
08/2012
https://link.springer.com/article/10.1385/NMM:8:1-2:159 

Coexistence of transthyretin familial amyloid polyneuropathy and hereditary neuropathy with liability to pressure palsy
Conceição I, Nzwalo H, de Carvalho M. Coexistence of transthyretin familial amyloid polyneuropathy and hereditary neuropathy with liability to pressure palsy. Clin Neurol Neurosurg. 2012 Dec;114(10):1355-7. doi: 10.1016/j.clineuro.2012.03.023. Epub 2012 Apr 20. PMID: 22520972.
04/2012
https://pubmed.ncbi.nlm.nih.gov/22520972/ 

Hereditary neuropathy with liability to pressure palsy: a brief review with a case report
Rana AQ, Masroor MS. Hereditary neuropathy with liability to pressure palsy: a brief review with a case report. Int J Neurosci. 2012 Mar;122(3):119-23. doi: 10.3109/00207454.2011.633719. Epub 2011 Nov 30. PMID: 22023293.
03/2012
https://pubmed.ncbi.nlm.nih.gov/22023293/

Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
Resko P, Radvansky J, Odnogova Z, Baldovic M, Minarik G, Polakova H, Palffy R, Kadasi L. Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. Gen Physiol Biophys. 2011 Dec;30(4):379-88. doi: 10.4149/gpb_2011_04_379. PMID: 22131320.
12/2011
https://pubmed.ncbi.nlm.nih.gov/22131320/ 

Beneficial use of steroids in hereditary neuropathy with liability to pressure palsy
11/2011
https://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.2011.04131.x

Hereditary Motor Sensory Neuropathies (Charcot–Marie–Tooth Disease)
09/2011
https://onlinelibrary.wiley.com/doi/10.1002/9781119973331.ch21

A report of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy: the value of complete electrodiagnostic testing
Bulusu S, McMillan HJ. A report of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy: the value of complete electrodiagnostic testing. Am J Electroneurodiagnostic Technol. 2011 Sep;51(3):183-90. PMID: 21988036.
09/2011
https://pubmed.ncbi.nlm.nih.gov/21988036/ 

Ultrasound in the diagnosis of mononeuropathy: Future directions
07/2011
https://onlinelibrary.wiley.com/doi/10.1002/mus.22242

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine–Sottas neuropathy
06/2011
https://onlinelibrary.wiley.com/doi/10.1002/mus.22189

JPNS: Journal of the peripheral nervous system (Volume 16, Issue 2, June 2011)
The phenotype of the Gly94fsX222 PMP22 insertion
06/2011
https://onlinelibrary.wiley.com/doi/10.1111/j.1529-8027.2011.00333.x 

Sonographic features in hereditary neuropathy with liability to pressure palsies
06/2011
https://onlinelibrary.wiley.com/doi/10.1002/mus.22199 

Muscle & nerve: Volume 45, Issue 1, jan 2012: A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype
06/2011
https://onlinelibrary.wiley.com/doi/10.1002/mus.22201 

Electrophysiological entrapment syndromes in chronic inflammatory demyelinating polyneuropathy
04/2011
https://onlinelibrary.wiley.com/doi/10.1002/mus.22146

Increased axonal ribosome numbers in CMT diseases
04/2011
https://onlinelibrary.wiley.com/doi/10.1111/j.1529-8027.2011.00322.x

Recovery of brachial plexus lesions resulting from heavy backpack use: A follow-up case series
Nylund T, Mattila VM, Salmi T, Pihlajamäki HK, Mäkelä JP. Recovery of brachial plexus lesions resulting from heavy backpack use: a follow-up case series. BMC Musculoskelet Disord. 2011 Mar 24;12:62. doi: 10.1186/1471-2474-12-62. PMID: 21429232; PMCID: PMC3076297.
03/2011
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3076297/

REPORT of a novel mutation in the PMP22 gene causing an axonal neuropathy
02/2011
https://onlinelibrary.wiley.com/doi/10.1002/mus.21973 

European journal of neurology:
Clinical, genetic and electrophysiologic correlation in hereditary neuropathy with liability to pressure palsies with involvement of PMP22 gene at chromosome 17p11.2
01/2011
https://onlinelibrary.wiley.com/doi/10.1111/j.1468-1331.1997.tb00347.x 

Neuroactive Steroids and Peripheral Neuropathy
01/2011
https://onlinelibrary.wiley.com/doi/10.1002/ana.22166

Charcot-marie-tooth disease subtypes and genetic testing strategies
01/2011
https://onlinelibrary.wiley.com/doi/10.1002/9783527633968.ch7

Hereditary neuropathy with a liability to pressure palsies presenting as a case of sensory neuropathy following spinal anaesthesia for caesarean delivery
11/2010
https://pubmed.ncbi.nlm.nih.gov/21036597/ 

Spectrum of peripheral neuropathies associated with surgical interventions; A neurophysiological assessment
04/2010
https://pubmed.ncbi.nlm.nih.gov/20398427/ 

Genomic and clinical characteristics of microduplications in chromosome 17
04/2010
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33248

Neuron-glia signaling and the protection of axon function by Schwann cells
03/2010
https://onlinelibrary.wiley.com/doi/10.1111/j.1529-8027.2010.00247.x

International Neurology: A Clinical Approach
Hereditary Neuropathy
Cui, L. and Liu, M. (2009). Hereditary Neuropathy. In International Neurology (eds R.P. Lisak, D.D. Truong, W.M. Carroll and R. Bhidayasiri). https://doi.org/10.1002/9781444317008.ch111
12/2009
https://onlinelibrary.wiley.com/doi/10.1002/9781444317008.ch111 

Sodium-dependent vitamin C transporter 2 (SVCT2) is necessary for the uptake of L-ascorbic acid into Schwann cells
08/2009
https://onlinelibrary.wiley.com/doi/10.1002/glia.20923

Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis.
Bhatt A, Farooq MU, Aburashed R, Kassab MY, Majid A, Bhatt S, Naravetla B, Dhaliwal G. Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis. Neurol Sci. 2009 Jun;30(3):241-5. doi: 10.1007/s10072-009-0034-x. Epub 2009 Feb 24. PMID: 19238316.  
02/2009
https://pubmed.ncbi.nlm.nih.gov/19238316/ 

Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role of Laboratory and Genetic Testing (An Evidence-Based Review)
England, J.D., Gronseth, G.S., Franklin, G., Carter, G.T., Kinsella, L.J., Cohen, J.A., Asbury, A.K., Szigeti, K., Lupski, J.R., Latov, N., Lewis, R.A., Low, P.A., Fisher, M.A., Herrmann, D.N., Howard, J.F., Lauria, G., Miller, R.G., Polydefkis, M. and Sumner, A.J. (2009), Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role of Laboratory and Genetic Testing (An Evidence-Based Review). PM&R, 1: 5-13. https://doi.org/10.1016/j.pmrj.2008.11.010
01/2009
https://onlinelibrary.wiley.com/doi/10.1016/j.pmrj.2008.11.010

Peripheral myelin protein 22 is regulated post-transcriptionally by miRNA-29a
01/2009
https://onlinelibrary.wiley.com/doi/10.1002/glia.20846

Swallowing dysfunction in hereditary neuropathy with liability to pressure palsies
Lorenzoni PJ, Scola RH, Cardoso J, Kay CS, Fugmann EA, Marques W Jr, Silvado CE, Werneck LC. Swallowing dysfunction in hereditary neuropathy with liability to pressure palsies. Arq Neuropsiquiatr. 2008 Dec;66(4):898-900. doi: 10.1590/s0004-282x2008000600027. PMID: 19099137.  
12/2008
https://pubmed.ncbi.nlm.nih.gov/19099137/ 

Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review)
England, J.D., Gronseth, G.S., Franklin, G., Carter, G.T., Kinsella, L.J., Cohen, J.A., Asbury, A.K., Szigeti, K., Lupski, J.R., Latov, N., Lewis, R.A., Low, P.A., Fisher, M.A., Herrmann, D., Howard, J.F., Lauria, G., Miller, R.G., Polydefkis, M., Sumner, A.J., , and (2009), Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review). Muscle Nerve, 39: 116-125. https://doi.org/10.1002/mus.21226
12/2008
https://onlinelibrary.wiley.com/doi/10.1002/mus.21226

EXPANDING THE NOSOLOGY OF HYPERMYELINATING NEUROPATHIES: DESCRIPTION OF TWO NEW ENTITIES
Quaranta, L., Sabatelli, M., Madia, F., , Lippi, G., Conte, A., Gazzetta, F. and Tonali, P. (2002), EXPANDING THE NOSOLOGY OF HYPERMYELINATING NEUROPATHIES: DESCRIPTION OF TWO NEW ENTITIES. Journal of the Peripheral Nervous System, 7: 82-83. https://doi.org/10.1046/j.1529-8027.2002.7011_40.x
10/2008
https://onlinelibrary.wiley.com/doi/10.1046/j.1529-8027.2002.7011_40.x

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype
08/2008
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.32456 

A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression
Magot, A., Latour, P., Mussini, J.-M., Mourtada, R., Guiheneuc, P. and Pereon, Y. (2008), A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression. Muscle Nerve, 38: 1055-1059. https://doi.org/10.1002/mus.21050
07/2008
https://onlinelibrary.wiley.com/doi/10.1002/mus.21050 

Focal myelin swellings and tomacula in anti-MAG IgM paraproteinaemic neuropathy: Novel teased nerve fiber studies
07/2008
https://onlinelibrary.wiley.com/doi/10.1111/j.1529-8027.2001.01013.x (myelin associated glycoprotein - MAG - link with milk?)

MUSCLE&NERVE (Volume 38, Issue 2: August 2008)
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies
Luigetti, M., Conte, A., Madia, F., Mereu, M.L., Zollino, M., Marangi, G., Pomponi, M.G., Liberatore, G., Tonali, P.A. and Sabatelli, M. (2008), A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. Muscle Nerve, 38: 1060-1064. https://doi.org/10.1002/mus.21083
07/2008
https://onlinelibrary.wiley.com/doi/10.1002/mus.21083 

Promoter analysis of the CMT1A-disease gene PMP22 in vivo
Maier, M., Berger, P., Nave, K.A. and Suter, U. (2002), Promoter analysis of the CMT1A-disease gene PMP22 in vivo. Journal of Neurochemistry, 81: 77-77. https://doi.org/10.1046/j.1471-4159.81.s1.45_2.x
06/2008
https://onlinelibrary.wiley.com/doi/10.1046/j.1471-4159.81.s1.45_2.x

Neuromuscular and mitochondrial disorders: what is relevant to the anaesthesiologist?
06/2008
https://journals.lww.com/co-anesthesiology/abstract/2008/06000/neuromuscular_and_mitochondrial_disorders__what_is.17.aspx 

Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese
Chen SR, Lin KP, Kuo HC, Chen CM, Hsieh ST, Lee MJ, Yang CC, Liu CS, Huang CC, Lyu RK, Ro LS. Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese. Clin Neurol Neurosurg. 2008 May;110(5):466-71. doi: 10.1016/j.clineuro.2008.02.002. Epub 2008 Mar 18. PMID: 18353535.
05/2008
https://pubmed.ncbi.nlm.nih.gov/18353535/
https://linkinghub.elsevier.com/retrieve/pii/S0303-8467(08)00055-3

A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP)
Marsh EA, Robinson DO. A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP). Clin Neurol Neurosurg. 2008 May;110(5):525-8. doi: 10.1016/j.clineuro.2008.02.007. Epub 2008 Mar 21. PMID: 18358598.
03/2008
https://pubmed.ncbi.nlm.nih.gov/18358598/ 

Hereditary neuropathy with liability to pressure palsies: description of seven patients without known family history
Beydoun, S.R., Sykes, S.N., Ganguly, G. and Lee, T.S. (2008), Hereditary neuropathy with liability to pressure palsies: description of seven patients without known family history. Acta Neurologica Scandinavica, 117: 266-272. https://doi.org/10.1111/j.1600-0404.2007.00935.x
03/2008
https://onlinelibrary.wiley.com/doi/10.1111/j.1600-0404.2007.00935.x

Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: A comparison
01/2008
https://analyticalsciencejournals.onlinelibrary.wiley.com/doi/10.1002/elps.200700340 

Peripheral neuropathies
01/2008
https://onlinelibrary.wiley.com/doi/10.1111/j.1750-3639.1997.tb01035.x 

A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies
Muglia M, Patitucci A, Rizzi R, Ungaro C, Conforti FL, Gabriele AL, Magariello A, Mazzei R, Motti L, Sabadini R, Sprovieri T, Marcello N, Quattrone A. A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. J Neurol Sci. 2007 Dec 15;263(1-2):194-7. doi: 10.1016/j.jns.2007.05.034. Epub 2007 Aug 20. PMID: 17707409.

12/2007

https://pubmed.ncbi.nlm.nih.gov/17707409/

Early-onset hereditary neuropathy with liability to pressure palsy
Antonini G, Luchetti A, Mastrangelo M, Ciambra GL, Di Netta S, Taioli F, Fabrizi GM, Iannetti P. Early-onset hereditary neuropathy with liability to pressure palsy. Neuropediatrics. 2007 Feb;38(1):50-4. doi: 10.1055/s-2007-981451. PMID: 17607607.

07/2007

https://pubmed.ncbi.nlm.nih.gov/17607607/

Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies
Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME, Nicholson GA. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. Arch Neurol. 2007 Jul;64(7):974-8. doi: 10.1001/archneur.64.7.974. Erratum in: Arch Neurol. 2007 Oct;64(10):1547. Radovanovic, Danuijola [corrected to Radovanovic, Danijela]. PMID: 17620487.
07/2007
https://pubmed.ncbi.nlm.nih.gov/17620487/ 

Regional anesthesia for a patient with hereditary neuropathy with liability to pressure palsies
Carassiti, M., Doyle, D.J., Cataldo, R. et al. Regional anesthesia for a patient with hereditary neuropathy with liability to pressure palsies. Can J Anesth 54, 325–326 (2007). https://doi.org/10.1007/BF03022784  
04/2007
https://link.springer.com/article/10.1007%2FBF03022784 

Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR
Choi BO, Kim J, Lee KL, Yu JS, Hwang JH, Chung KW. Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR. Mol Cells. 2007 Feb 28;23(1):39-48. PMID: 17464210.
02/2007
https://pubmed.ncbi.nlm.nih.gov/17464210/ 

Quality of life is not impaired in patients with hereditary neuropathy with liability to pressure palsies
Padua L, Pazzaglia C, Cavallaro T, Commodari I, Pareyson D, Quattrone A, Rizzuto N, Vita G, Tonali PA, Schenone A; Italian CMT QoL Study Group. Quality of life is not impaired in patients with hereditary neuropathy with liability to pressure palsies. Eur J Neurol. 2007 Jan;14(1):e45-6. doi: 10.1111/j.1468-1331.2006.01545.x. PMID: 17222096.
01/2007
https://pubmed.ncbi.nlm.nih.gov/17222096/  

Regional anesthesia for a patient with hereditary neuropathy with liability to pressure palsies
Carassiti, M., Doyle, D.J., Cataldo, R. et al. Regional anesthesia for a patient with hereditary neuropathy with liability to pressure palsies. Can J Anesth 54, 325–326 (2007). https://doi.org/10.1007/BF03022784  
01/2007
https://link.springer.com/article/10.1007/BF03022784 

European Journal of Neurology (Volume 14, Issue 1: January 2007)
Bilateral hand amyotrophy with PMP-22 gene deletion
01/2007
https://onlinelibrary.wiley.com/doi/10.1111/j.1468-1331.2006.01576.x 

Muscle & nerve (Volume 36, Issue 1, January 2007)
Hereditary neuropathy with liability to pressure palsy combined with schwannomas of the median and medial plantar nerves
12/2006
https://onlinelibrary.wiley.com/doi/10.1002/mus.20641 

CNS involvement in hereditary neuropathy with pressure palsies (HNPP)
Tackenberg B, Möller JC, Rindock H, Bien S, Sommer N, Oertel WH, Rosenow F, Schepelmann K, Hamer HM, Bandmann O. CNS involvement in hereditary neuropathy with pressure palsies (HNPP). Neurology. 2006 Dec 26;67(12):2250-2. doi: 10.1212/01.wnl.0000249185.78359.06. PMID: 17190957.  
12/2006
https://pubmed.ncbi.nlm.nih.gov/17190957/