Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease

Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease

Item
http://www.wikidata.org/entity/Q28241413
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutationsSIMPLE/LITAF expression induces the translocation of the ubiquitin ligase itch towards the lysosomal compartments.Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseasesLITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.Clan genomics and the complex architecture of human disease.Digenic inheritance in medical geneticsWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Towards a functional pathology of hereditary neuropathies.LITAF (SIMPLE) regulates Wallerian degeneration after injury but is not essential for peripheral nerve development and maintenance: implications for Charcot-Marie-Tooth disease.Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.Genetic epidemiology of Charcot-Marie-Tooth disease.
P2860

Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease

Item
http://www.wikidata.org/entity/Q28241413
description
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2005
@ast
im April 2005 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: April 2005)
@en
vedecký článok (publikovaný 2005-04)
@sk
vědecký článek publikovaný v roce 2005
@cs
wetenschappelijk artikel (gepubliceerd in 2005-04)
@nl
наукова стаття, опублікована у квітні 2005
@uk
مقالة علمية (نشرت في أبريل 2005)
@ar
name
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease
@ast
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease
@en
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease
@nl
type
label
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease
@ast
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease
@en
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease
@nl
prefLabel
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease
@ast
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease
@en
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698