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Evidence for RPGRIP1 gene as risk factor for primary open angle glaucomaTranscriptional regulator PRDM12 is essential for human pain perceptionMutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucomaTracing myelin protein zero (P0) in vivo by construction of P0-GFP fusion proteinsLoss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic testMechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline.Genetic and phenotypic variability of optic neuropathies.A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients.Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP.MFN2 mutations cause compensatory mitochondrial DNA proliferation.High post surgical opioid requirements in Crohn's disease are not due to a general change in pain sensitivity.Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies.Mutations in the LMNA gene do not cause axonal CMT in Czech patients.A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.High frequency of mutations in the PIK3CA gene helical and kinase coding regions in a group of Iranian patients with high-grade glioblastomas: five novel mutations.Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.Hemiplegic migraine with reversible cerebral vasoconstriction caused by ATP1A2 mutations.Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family.Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal modelsPhenotypic Variability in a Large Czech Family with a Dynamin 2–Associated Charcot-Marie-Tooth NeuropathyLack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS)A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth diseaseTargeting inherited peripheral neuropathies in the postgenomic era
P50
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P50
description
hulumtues
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wetenschapper
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հետազոտող
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Bernd Rautenstrauss
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Bernd Rautenstrauss
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Bernd Rautenstrauss
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Bernd Rautenstrauss
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Bernd Rautenstrauss
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Bernd Rautenstrauss
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Bernd Rautenstrauss
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Bernd Rautenstrauss
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Bernd Rautenstrauss
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Bernd Rautenstrauss
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Bernd Rautenstrauss
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Bernd Rautenstrauss
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Bernd Rautenstrauss
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Bernd Rautenstrauss
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Bernd Rautenstrauss
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P106
P21
P31
P496
0000-0001-5099-7476