about
sameAs
Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosisTranscriptional regulator PRDM12 is essential for human pain perceptionRegulation of endoplasmic reticulum turnover by selective autophagyNew findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutationsRole of endogenous cannabinoids in synaptic signalingLoss of function of the ALS protein SigR1 leads to ER pathology associated with defective autophagy and lipid raft disturbancesShortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A.Distinct pathogenic processes between Fig4-deficient motor and sensory neurons.Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.Conduction block in PMP22 deficiency.Neuropathy in a human without the PMP22 gene.Glycogenosome accumulation in the arrector pili muscle in Pompe disease.A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.Towards a functional pathology of hereditary neuropathies.The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins.PMP22 expression in dermal nerve myelin from patients with CMT1A.Diseases of the peripheral nerves.Spinal cord organotypic slice cultures for the study of regenerating motor axon interactions with 3D scaffolds.Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.Reduced intraepidermal nerve fiber density in patients with REM sleep behavior disorder.Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus.ALS-Associated Endoplasmic Reticulum Proteins in Denervated Skeletal Muscle: Implications for Motor Neuron Disease Pathology.Accumulation of STIM1 is associated with the degenerative muscle fibre phenotype in ALS and other neurogenic atrophies.Macrophage Depletion Ameliorates Peripheral Neuropathy in Aging Mice.Small-fiber neuropathy with cardiac denervation in postural tachycardia syndromeBortezomib-induced severe autonomic neuropathySmall-fiber neuropathy in patients with ALSTargeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathyEndothelial damage, vascular bagging and remodeling of the microvascular bed in human microangiopathy with deep white matter lesionsCharacteristic clinical and ultrastructural findings in nesprinopathiesMonitoring α-synuclein multimerization in vivoMyelinating Glia-Specific Deletion of Fbxo7 in Mice Triggers Axonal Degeneration in the Central Nervous System Together with Peripheral Neuropathy
P50
Q24308696-29D769D1-EB2B-4110-89A3-4A50CBF8F47FQ24337786-13F255B3-26F0-44F6-92FC-FB0835CE53D4Q24337786-66AA46A2-3432-4DCB-B468-B9415C31D7A8Q24337913-C31FE1ED-35B8-44E1-8BAF-214508296C65Q27304506-DD44C43D-2B08-49F8-A726-9C1FC047571AQ28185075-191DBFC2-7F40-49C9-A42F-6AACC8BB86D7Q30669509-6A6CC062-3E23-4B2B-A5E1-116E79EDBE06Q33567193-09FBDC47-911F-4271-84A6-A5E899636786Q34171101-81DF2831-3745-4684-8D67-25EEF2EA235BQ34632438-9C05C1F6-77EB-45E8-8C1D-1D0A0686DBD2Q36392068-6C5FF8CD-DD2B-42EF-BAC2-87903EAD86CAQ36912268-FC6F2D83-7AD2-474B-8A7A-6268F4B3B9CDQ37013290-6FE67BB1-DBF1-41E8-AB06-BE819CCBD231Q37580121-21737E77-9BCB-4D80-909A-19224834C5F7Q38638620-5D14CEE8-A388-4371-85F0-14F64A0C1462Q39023144-4FAD1EC6-78BC-491D-8E2F-A4139B47094EQ41636922-9DFAD162-CA37-486C-A642-B62C495DE647Q41908068-8D9FF236-9DE3-40D5-BAF1-E3EA1AB92FF1Q41922238-0F82A62D-5FC8-4A1E-A066-467F61811DC8Q42454710-51139DAE-D12A-49A2-A36F-3960FEA007F8Q43244008-BC04D363-055C-4169-9315-E2197A9FCCC5Q47686004-C5A687AA-13A2-41DF-AFDB-61F298F7496CQ47844966-80A4383B-9D14-41FB-910F-20600865252FQ48427387-56AB2E73-B1D6-49B2-B4B6-26B0EC93B81CQ48452951-6F328157-9A15-44D6-82B1-00EAD1A9BD37Q48701229-AF49563C-73BA-4364-9D66-3B5A8C5FC0D7Q54113371-4F7945A9-4F9D-4004-B106-12EA520156DFQ57232611-A6B9CDC1-451C-4CA9-BA97-33211A160200Q57232613-BA657073-8F9C-4F0B-AE2B-986C197C44B1Q57232614-7DC8AAE0-1322-42EF-9E18-C458B091A9BEQ58803623-6BC93298-699A-4FF0-B97F-BBE6FD972846Q59812100-BDFCE7C7-7D10-4FE8-9AC3-F5CD90C64417Q90968877-3F1F6BC1-04F9-4E05-A00E-4E22D17A2AB3Q91722632-C8C90549-4509-4427-B0A1-54E77943DAB8Q91995834-6E3F388E-D721-4314-8396-949E546625E1
P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Istvan Katona
@ast
Istvan Katona
@en
Istvan Katona
@es
Istvan Katona
@nl
Istvan Katona
@sl
type
label
Istvan Katona
@ast
Istvan Katona
@en
Istvan Katona
@es
Istvan Katona
@nl
Istvan Katona
@sl
prefLabel
Istvan Katona
@ast
Istvan Katona
@en
Istvan Katona
@es
Istvan Katona
@nl
Istvan Katona
@sl
P106
P21
P31
P496
0000-0002-0955-8911