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Abbreviation : HNPP
Long Form : hereditary neuropathy with liability to pressure palsies
No. Year Title Co-occurring Abbreviation
2022 Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy. ---
2022 Candidate imaging biomarkers for PMP22-related inherited neuropathies. CMAP, CMT1A, CMTESL, CSA, ICC, MCV, MRI, MTR, PMP22
2022 Clinical and neurophysiological findings in patients with hereditary neuropathy with liability to pressure palsy and chromosome 17p11.2 deletion. ---
2022 Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies. CMT1A, PMP22
2022 Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom. CMA
2022 Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain-Barré Syndrome: A case report. GBS, IVIG
2022 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. HPV, NA
2022 Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients. CMT1A, CMT1E, PMP22, TS, WES
2022 Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP. CMT1A
10  2021 Facial Paresthesia, a Rare Manifestation of Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report. ---
11  2021 Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy. CMT, HRQoL
12  2021 [An 18-year-old man of hereditary neuropathy with liability to pressure palsies presenting with bilateral brachial plexopathy during military training]. NCS, TOS
13  2020 A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP. ---
14  2020 A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia. PMP22
15  2020 Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department. ---
16  2020 Fatigue in patients with hereditary neuropathy with liability to pressure palsies. PMP22
17  2020 New evidence for secondary axonal degeneration in demyelinating neuropathies. AIDP, CIDP, CMT1, PNS, SC
18  2020 Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements. CMT1A
19  2020 Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves. c17p12, PMP22
20  2020 Quality of life in hereditary neuropathy with liability to pressure palsies is as impaired as in Charcot-Marie-Tooth disease type 1A. BDI, CMT1A, CMTNS, FES, FSS, MRC, ONLS, QoL
21  2020 The Electrophysiologic and Ultrasonographic Change after Carpal Tunnel Release in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy. CSA, CTR, NCS
22  2020 Yield of the PMP22 deletion analysis in patients with compression neuropathies. NCS, RT-PCR
23  2020 [Hereditary Polyneuropathies]. CMT
24  2019 A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects. DSS
25  2019 Clinical and neurophysiological findings in patients with hereditary neuropathy with liability to pressure palsy and chromosome 17p11.2 deletion. ---
26  2019 Comparison of clinical and electrophysiological features of patients with hereditary neuropathy with liability to pressure palsies with or without pain. mRS, SNAPs
27  2019 Hereditary neuropathy with liability to pressure palsies. ---
28  2019 Length-dependent MRI of hereditary neuropathy with liability to pressure palsies. CMTNS, Fper, MTR, PMP22
29  2019 Pain and small-fiber affection in hereditary neuropathy with liability to pressure palsies (HNPP). CD, NCS, QSART, QST, WD
30  2019 Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link? PMP22, PNPs
31  2018 A Life-Saving Palsy: Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Presenting As Hand Weakness during Cardiopulmonary Resuscitation (CPR) Training CPR, PMP22
32  2018 A Review of Copy Number Variants in Inherited Neuropathies. CGH, CMT, CNVs, kb, Mb, NGS, SNP, SNVs, WGS
33  2018 Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population. CI, CNV, NGS, PMP22
34  2018 Genetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain). CI, CMT
35  2018 Hereditary Neuropathy with Liability to Pressure Palsies: A Rare Condition That Presents with Common Symptoms: A Case Report. ---
36  2018 Peripheral neuropathy in diabetes: it's not always what it looks like. CSII, PMP22
37  2017 A case of hereditary neuropathy with liability to pressure palsies due to push-up exercise. ---
38  2017 A case report of hereditary neuropathy with liability to pressure palsies accompanied by type 2 diabetes mellitus and psoriasis. CMT1A, PMP22, T2DM
39  2017 Acute Demyelinating Polyneuropathy as Presentation of Hereditary Neuropathy With Liability to Pressure Palsies in a Patient Who Exercised Regularly in the Army. ---
40  2017 Characterisation of pain in people with hereditary neuropathy with liability to pressure palsy. ---
41  2017 Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population. CMT
42  2017 Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy. CMT, PMP22
43  2017 Clinical, electrophysiological, genetic, and imaging features of six Chinese Han patients with hereditary neuropathy with liability to pressure palsies (HNPP). LITAF, MRI, NGS, PMP22
44  2017 Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies. CMT
45  2017 Electrodiagnostic Characterization of Hereditary Neuropathy With Liability to Pressure Palsies. ---
46  2017 Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene. PMP22
47  2017 Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria. DML
48  2017 Muscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies. ---
49  2017 Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients. CMT
50  2017 Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy. AR, PMP22, SBMA
51  2017 [Hereditary neuropathy with liability to pressure palsies in childhood: Report of three cases]. ---
52  2016 Afferent Visual Pathway Affection in Patients with PMP22 Deletion-Related Hereditary Neuropathy with Liability to Pressure Palsies. HC, MRS, NEI-VFQ, OCT, VBM, VEP
53  2016 Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion. NCS
54  2016 Compression of Root Level in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy Diagnosed by Magnetic Resonance Imaging. ---
55  2016 Fibular nerve palsy after hip replacement: Not only surgeon responsibility. Hereditary neuropathy with liability to pressure palsies (HNPP) a rare cause of nerve liability. ---
56  2016 Hereditary Neuropathy with Liability to Pressure Palsies. ---
57  2016 Hereditary Neuropathy With Liability to Pressure Palsies: A Single-Center Experience in Southern Brazil. ---
58  2016 Hereditary Neuropathy With Liability to Pressure Palsies: Diverse Phenotypes in Childhood. ---
59  2016 Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP). COPD
60  2016 Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. NAHR, SMS
61  2016 The broad clinical spectrum of hereditary neuropathy with liability to pressure palsy (HNPP). ---
62  2016 Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP. PAK1
63  2015 An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP). ---
64  2015 Analysis of PMP22 duplication and deletion using a panel of six dinucleotide tandem repeats. CMT1A, HMSN
65  2015 Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease. CMT, MLPA
66  2015 Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion. ---
67  2015 Complex Scapular Winging following Total Shoulder Arthroplasty in a Patient with Ehlers-Danlos Syndrome. EDS, TSA
68  2015 DTI Study of Cerebral Normal-Appearing White Matter in Hereditary Neuropathy With Liability to Pressure Palsies (HNPP). DTI, FA, NAWM
69  2015 Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update. ---
70  2015 Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis. ---
71  2015 Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience. ---
72  2015 Proximal arm weakness is the most common presentation in young Korean soldiers diagnosed as having hereditary neuropathy with liability to pressure palsy (HNPP). ---
73  2015 [Analysis of the clinical, electrophysiological and genetic features of a family affected with hereditary neuropathy with liability to pressure palsies]. PMP22
74  2014 A novel locus for a hereditary recurrent neuropathy on chromosome 21q21. HNA
75  2014 Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies. ---
76  2014 Characteristic features of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy in soldiers. ---
77  2014 Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. CMT
78  2014 Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. LITAF
79  2014 Genetic factors for nerve susceptibility to injuries - lessons from PMP22 deficiency. ---
80  2014 Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. ---
81  2014 Optic and auditory pathway dysfunction in demyelinating neuropathies. CIDP, CMT1A, MAG
82  2014 Overlap phenotype between CMT1A and hereditary neuropathy with liability to pressure palsies caused by the novel small in-frame deletion c.407_418del12 in PMP22 gene. CMT1
83  2014 Pain in hereditary neuropathy with liability to pressure palsy: an association with fibromyalgia syndrome? FMS
84  2014 Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies. PMP22
85  2014 Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease. CMT1A, PMP22
86  2014 PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. CMT1A
87  2014 Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report. ---
88  2014 The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases. CMT1A
89  2014 Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies. CSA, DMLs
90  2013 Abnormal junctions and permeability of myelin in PMP22-deficient nerves. JAM-C, MAG, PMP22
91  2013 Bell's palsy and hereditary neuropathy with liability to pressure palsy (HNPP): is there a common genetic background? ---
92  2013 Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination. CIDP
93  2013 Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation. ---
94  2013 Dominant Charcot-Marie-Tooth syndrome and cognate disorders. CMT, HNA
95  2013 Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed. ---
96  2013 Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis. PMP22
97  2013 Is carpal tunnel decompression warranted for HNPP? ---
98  2013 Restless leg syndrome in different types of demyelinating neuropathies: a single-center pilot study. CIDP, CMT1A, RLS
99  2013 Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. CSA, DMLs, US
100  2013 Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP. CMT, CSA, FD