about
Provision and quality assurance of preimplantation genetic diagnosis in EuropeGDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondriaFrataxin interacts functionally with mitochondrial electron transport chain proteinsMutations in the urocanase gene UROC1 are associated with urocanic aciduriaGenetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effectThe gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A diseaseMutations in GDAP1: autosomal recessive CMT with demyelination and axonopathyFriedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansionA novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 diseaseSh3tc2 deficiency affects neuregulin-1/ErbB signalingLack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathyTargeted Next Generation Sequencing in Patients with Inborn Errors of MetabolismEvolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal SpeciesCell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A diseaseMissense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.Autosomal recessive cerebellar ataxias.Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency.Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolismGenetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.Influence of the sex of the transmitting grandparent in congenital myotonic dystrophyDifferential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblastsInfluence of breastfeeding versus formula feeding on lymphocyte subsets in infants at risk of coeliac disease: the PROFICEL study.Influence of milk-feeding type and genetic risk of developing coeliac disease on intestinal microbiota of infants: the PROFICEL study.Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).The USH2A c.2299delG mutation: dating its common origin in a Southern European population.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping.Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegansThe HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease.Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cellsGenetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia.Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense ChangesTwo different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia.Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease.Friedreich ataxia: an update on animal models, frataxin function and therapies.Genetics and pathogenesis of inherited ataxias and spastic paraplegias.Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.
P50
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P50
description
hulumtues
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researcher
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wetenschapper
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հետազոտող
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name
Francesc Palau
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Francesc Palau
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Francesc Palau
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Francesc Palau
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Francesc Palau
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type
label
Francesc Palau
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Francesc Palau
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Francesc Palau
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Francesc Palau
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Francesc Palau
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Paco Palau
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Palau F
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prefLabel
Francesc Palau
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Francesc Palau
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Francesc Palau
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Francesc Palau
@nl
Francesc Palau
@sl
P108
P1053
A-9391-2014
P106
P108
P1153
7006313852
P21
P31
P3829
P496
0000-0002-8635-5421