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Mutations in the urocanase gene UROC1 are associated with urocanic aciduriaChaperonopathies: Spotlight on Hereditary Motor NeuropathiesSh3tc2 deficiency affects neuregulin-1/ErbB signalingMissense 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.Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial HypertensionOn the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.Autosomal recessive Charcot-Marie-Tooth neuropathy.Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.Twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization.Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progressionCongenital hypomyelinating neuropathy due to a novel MPZ mutationCharacterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying mutationsCharacterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutationsGenetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern SpainClinical spectrum of BICD2 mutationsA very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4
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0000-0002-3774-9854