Heredit%C3%A4re_Neuropathie_mit_Neigung_zu_Druckl%C3%A4hmungenHereditary_neuropathy_with_liability_to_pressure_palsyNeuropat%C3%ADa_hereditaria_con_susceptibilidad_a_par%C3%A1lisis_por_presi%C3%B3nNeuropathie_h%C3%A9r%C3%A9ditaire_avec_hypersensibilit%C3%A9_%C3%A0_la_pression%E9%81%BA%E4%BC%9D%E6%80%A7%E5%9C%A7%E8%84%86%E5%BC%B1%E6%80%A7%E3%83%8B%E3%83%A5%E3%83%BC%E3%83%AD%E3%83%91%E3%83%81%E3%83%BCDziedziczna_neuropatia_z_nadwra%C5%BCliwo%C5%9Bci%C4%85_na_uciskQ1609737
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P2293
Afferent Visual Pathway Affection in Patients with PMP22 Deletion-Related Hereditary Neuropathy with Liability to Pressure Palsies.Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis.Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.Overview of hereditary neuropathy with liability to pressure palsies.Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies.Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patientsGene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies.Flail arms in a parachutist: an unusual presentation of hereditary neuropathy with liability to pressure palsies.A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.Hereditary neuropathy with liability to pressure palsies in childhood: report of a case and a brief review.Unusual presentation of hereditary neuropathy with liability to pressure palsiesInherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT CollaborativeDNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical ProceduresDTI Study of Cerebral Normal-Appearing White Matter in Hereditary Neuropathy With Liability to Pressure Palsies (HNPP).PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report.Hereditary Neuropathy with Liability to Pressure PalsiesPersisting "writer's cramp" as a result of compensation of a temporary palsy due to a hereditary neuropathy with liability to pressure palsies.Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update.Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies.Electrodiagnostic Characterization of Hereditary Neuropathy With Liability to Pressure Palsies.Hereditary neuropathy with liability to pressure palsies. Report of two families and review of the literature.Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience.Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies.Hereditary Neuropathy With Liability to Pressure Palsies: A Single-Center Experience in Southern BrazilMuscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies.Hereditary neuropathy with liability to pressure palsies: case report and discussion.A case report of hereditary neuropathy with liability to pressure palsies accompanied by type 2 diabetes mellitus and psoriasisHereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy.Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies.Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsiesHereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis.Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene.Erratum to "Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies".Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment.Hereditary neuropathy with liability to pressure palsies: the first publication (1947).A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.Clinical and electrodiagnostic findings, nerve biopsy and blood group markers in a family with hereditary neuropathy with liability to pressure palsies.
P921
Q30371672-E5776699-95A2-49B5-9821-19A694A46A38Q33679699-CC44B1BE-ADCB-433A-A07D-E9249CF7C574Q33735640-7D5A58BC-0D89-43D2-BEE8-31CAA0A5210AQ33787282-8295FB20-ED3D-4F35-849A-4F4DB6A9EC36Q33818088-57B62E6F-6103-484F-800C-4FB145943FDAQ34358125-B4E67FB2-F896-4E60-BE14-2BAB448079C5Q34450443-0170B09D-3BB4-489E-B47A-03DAABD59D4EQ35325362-3F19F7D6-B525-4C12-952C-5407EE43CB27Q35643742-D0D8EE2A-B0CC-49E1-9214-22224805EB6FQ36018885-DCE05AFE-EBFB-4197-8E92-AACE2668F701Q36471145-4EA4B8D2-BFC4-432D-9496-BB35BCF0DF67Q36507166-E14E43E8-4A2D-449A-AB81-1FC9032456D9Q36801265-1C651243-7344-41BA-8F6F-1F1785D0557BQ36864095-DF7BEFF3-B991-4584-BA23-1D70B2701158Q36926249-7AB2469D-399F-49C4-AC53-2B3B3395B109Q37176367-9994D6B5-B39E-4A8D-8ADA-F4C3CD3F7434Q37715520-7A309663-0871-4C54-B242-F1C5E29CF21FQ38268653-9D01E051-6D65-4FAE-9409-7438500CA581Q38312799-ACCAF576-C259-4FD8-B50B-ED41FDC92377Q38506527-C8F1E2DF-61AA-45DE-A624-1387CD029364Q38550100-550B5116-FA68-491C-A3DB-38690B4D042EQ38627912-792B701E-9726-4A4C-B788-65D9EB61BC1BQ38950392-FFDDBA20-0523-4B5B-958E-03E94CB659CBQ40105606-AD146BE6-AD96-471F-815B-356259A0BCA8Q40798264-35F94BA7-4798-43C7-96A2-9F34653CDEB0Q41190486-CCA2593E-C38B-405E-9937-B59723FBEB28Q41473674-8784E5E6-59B6-424E-B2C9-55AEA2B0B4FBQ41691383-0F89D7FE-31A8-40A6-99EF-6F6CD7A898D9Q41725767-283C04C9-3056-412B-9473-D8E45FFE40C9Q41881301-F1558538-6637-460B-9B27-D0D7CD287A95Q41948536-EF938696-9CB5-4F9F-A08B-D5EE3D37EF8BQ42104935-3D8EFC62-54B0-4D82-BE51-ED71F660BAA3Q42121096-5C9680C4-1723-4F23-A085-BCC18F22B723Q42271729-65CFE572-064E-4397-8348-CE498D051B46Q43076029-2499C62C-1D2F-49A3-9C63-2DCB430BA7EBQ43193062-B4D07886-0E74-4B1E-BD4A-C0089FDAEE40Q44213550-1AFF1A46-447F-4D76-A86C-FAA9110110B0Q44394605-B246CC85-984D-4704-B074-82694973B7ADQ44943253-AC886B6A-074D-4CFB-AE7A-668C100CC73FQ45073076-9011219D-21C7-4E5C-AD50-E3EA05F446F6
P921
description
Krankheit
@de
maladie rare
@fr
peripheral neuropathy
@en
name
Dziedziczna neuropatia z nadwrażliwością na ucisk
@pl
Hereditäre Neuropathie mit Neigung zu Drucklähmungen
@de
Neuropatía hereditaria con susceptibilidad a parálisis por presión
@es
hereditary neuropathy with liability to pressure palsies
@en
neuropathie héréditaire avec hypersensibilité à la pression
@fr
遺伝性圧脆弱性ニューロパチー
@ja
type
label
Dziedziczna neuropatia z nadwrażliwością na ucisk
@pl
Hereditäre Neuropathie mit Neigung zu Drucklähmungen
@de
Neuropatía hereditaria con susceptibilidad a parálisis por presión
@es
hereditary neuropathy with liability to pressure palsies
@en
neuropathie héréditaire avec hypersensibilité à la pression
@fr
遺伝性圧脆弱性ニューロパチー
@ja
altLabel
HNPP
@de
HNPP
@en
Hereditäre Neuropathie mit Neigung zu Druckläsionen
@de
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES
@en
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
@en
Neuropathie Héréditaire Avec Hypersensibilité À La Pression
@fr
Neuropathie hereditaire avec hypersensibilite a la pression
@fr
Neuropatia hereditaria con susceptibilidad a paralisis por presion
@es
Polyneuropathy, Familial Recurrent
@en
Tomakulöse Neuropathie
@de
prefLabel
Dziedziczna neuropatia z nadwrażliwością na ucisk
@pl
Hereditäre Neuropathie mit Neigung zu Drucklähmungen
@de
Neuropatía hereditaria con susceptibilidad a parálisis por presión
@es
hereditary neuropathy with liability to pressure palsies
@en
neuropathie héréditaire avec hypersensibilité à la pression
@fr
遺伝性圧脆弱性ニューロパチー
@ja
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P5270
MONDO:0008087
P699
DOID:0060843