About: Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation

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About: Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation Goto Sponge NotDistinct Permalink

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scientific article published on 01 March 1996

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в 1996 (uk) article scientifique publié en 1996 (fr) im März 1996 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en marzu de 1996 (ast) scientific article published on 01 March 1996 (en)
publication date	wds:Q63487680-4727C14B-A7A1-4B97-A007-1F3769B7769B
publication date	1996-03-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q63487680-9818BDB8-CBF1-4701-9FC8-5894A4FD79F1
exact match	https://scigraph.springernature.com/pub.10.1007/bf00868518
cites work	wds:Q63487680-02B36C9A-CB72-4C02-A1F8-F09E95EF8144 wds:Q63487680-0484C7BF-C66E-4663-90F9-A4B69EE2CFD4 wds:Q63487680-061DA38F-7EEC-4C1A-BF70-8CB411F4C975 wds:Q63487680-12D7C1FA-1E0C-4701-A4A0-F549EF6AD023 wds:Q63487680-1C60A937-1F90-41E0-8340-CEDB921DCF40 wds:Q63487680-3110FE2E-E15F-4742-8FBB-1CDB3A04342F wds:Q63487680-4C0B0D46-83BA-47C9-9272-5CE75D38F8BD wds:Q63487680-6CF92A08-49F1-4EDF-82A0-FF585C8DECF6 wds:Q63487680-6F6FB05E-D3F7-4C72-9540-7CD18CBEE7F6 wds:Q63487680-6FDFCA83-8BA2-40DF-B29A-DCB8E1DCCE62 wds:Q63487680-7D413AB9-B0B8-4B2B-A4A6-756E4AF552B4 wds:Q63487680-7EE0975B-07AA-4308-AAFF-9FCAC8DAD530 wds:Q63487680-825E2C44-C88A-49FA-AA9A-287EED1E5BA0 wds:Q63487680-8B555894-E71B-4744-9D0F-A0B770087EC2 wds:Q63487680-8CAB7FD7-2963-4D7C-90AC-05FF2657D3C0 wds:Q63487680-951C9BC7-A82D-450B-8FCB-15DA27750B6B wds:Q63487680-9ACFBA44-BDD8-4C73-8D5A-AED219CB42D1 wds:Q63487680-CF398235-C9BD-4DF1-94D8-E3668508012E wds:Q63487680-D54F1FAD-1D8B-4B6C-BC9E-6484F2AA52E1 wds:Q63487680-DDD1CDF9-2179-43BA-86A5-6EAE639A4F91 wds:Q63487680-EAB9CF25-D60C-4341-822F-96FFFE66200F wds:Q63487680-ED5C3FEA-655F-47CB-A8D1-5275017405AF wds:Q63487680-F47E0678-07D5-48A7-AD64-64D34E71E83C wds:Q63487680-F60ADB2D-007D-426D-82A1-F94253187EBF
cites work	Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a) A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies DNA deletion associated with hereditary neuropathy with liability to pressure palsies DNA duplication associated with Charcot-Marie-Tooth disease type 1A Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17 Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths. The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A HEREDITARY NEUROPATHY, WITH LIABILITY TO PRESSURE PALSIES; A CLINICAL AND ELECTROPHYSIOLOGICAL STUDY OF FOUR FAMILIES Sub-clinical entrapment neuropathy in man Neuropathies with prolonged conduction block, single and grouped fasciculations, localized limb myokymia Experimental allergic neuritis. Ultrastructure of serum-induced myelin aberrations in peripheral nervous system cultures Demyelinating changes in sural nerve biopsy of patients with HTLV-I-associated myelopathy. Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies Recurrent peripheral nerve palsies in a family [Tomaculous neuropathy. A histopathological study and electroclinical correlates in 10 cases] Hereditary neuropathy with liability to pressure palsies masquerading as slowly progressive polyneuropathy Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and morphological study Sensory-motor chronic neuropathy in two siblings: atypical presentation of tomaculous neuropathy. Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication Focal myelin thickenings in a peripheral neuropathy associated with IgM monoclonal gammopathy
author name string	wds:Q63487680-55C8F29B-CBB3-4DAA-85A2-5B9D6475E100 wds:Q63487680-6BD8E28E-6806-4C7C-97E9-0D2AF772D8C3 wds:Q63487680-87F2CB63-E7B8-42EE-8B23-CA21E6642E81 wds:Q63487680-88BE9AC8-D92A-4BB1-A4CB-1408A73BBFEF wds:Q63487680-B7041C08-3E5D-40E2-B692-1144FE2E453C wds:Q63487680-C066F4C9-7528-4955-8DA7-8D8954C2B6ED wds:Q63487680-C8FBB6DD-70AB-450B-BDCB-D8718A4F288C wds:Q63487680-C9DA662C-8BCE-4FA2-9309-41846B07A4B6 wds:Q63487680-E77D019F-DE6D-4A43-82A2-54C472E8DD79 wds:Q63487680-F1BF489C-5D3A-4D85-B7ED-72AB03818C5D
author name string	P Stavropoulos C Papageorgiou N Karandreas D Vassilopoulos P Davaki M Rentzos G P Paraskevas C Karadimas V P Zis C Tsakanikas
rdfs:label	Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation (en) Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation (nl)
skos:prefLabel	Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation (en) Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation (nl)
name	Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation (en) Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation (nl)
author	wds:Q63487680-25D5A21A-970B-4FD0-9995-EA2B304E094A wds:Q63487680-BC9CDAD3-7B0F-4E20-9CFD-47845C3087AC
author	Elisabeth Andreadou Christos Yapijakis
title	wds:Q63487680-108D6DD4-31F9-45E6-A8E1-645EBC24D696
title	Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation (en)
page(s)	wds:Q63487680-31F80F1E-4049-442F-B271-F2303B5C487E
page(s)	225-230
instance of	wds:Q63487680-C015496E-6C11-4208-8DCE-F3526F6B3BC3
instance of	scholarly article
main subject	wds:Q63487680-8FB847D3-5116-4FB9-AE0F-078C49EFE884
main subject	hereditary neuropathy with liability to pressure palsies
PubMed ID	wds:Q63487680-0C5E3273-2B6A-48EA-98F5-8FB132B54456
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8936351
PubMed ID	8936351

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