Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type IHeterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeMutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyMolecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritanceDominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyPeripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4The hnRNP family: insights into their role in health and diseaseHSPB1 facilitates the formation of non-centrosomal microtubulesIncreased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathyCharcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilamentsIdentification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth diseaseMutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth diseaseGenomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophyHot-spot residue in small heat-shock protein 22 causes distal motor neuropathySIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerveMutations in SEPT9 cause hereditary neuralgic amyotrophyDisrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathyA de novo gain-of-function mutation in SCN11A causes loss of pain perceptionUnraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy.Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesRecessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
P50
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P50
description
Belgisch onderzoeker
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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Vincent Timmerman
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