J I. Vilchez
Valencia, VC, Spain
Last Updated: 09/26/2026
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Found 14 publications
EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia.
Journal: European journal of neurology
Published: April 17, 2025
Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome.
Journal: Neuropathology and applied neurobiology
Published: March 19, 2020
Clinical spectrum of BICD2 mutations.
Journal: European journal of neurology
Published: October 16, 2019
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Journal: Acta neuropathologica
Published: September 19, 2019
Molecular characterization of congenital myasthenic syndromes in Spain.
Journal: Neuromuscular disorders : NMD
Published: May 11, 2017
Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich's ataxia patients.
Journal: Scientific reports
Published: December 05, 2016
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.
Journal: Neuromuscular disorders : NMD
Published: March 21, 2016
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: December 10, 2015
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
Journal: Neuromuscular disorders : NMD
Published: June 17, 2015
Genome Sequence of Leucobacter sp. 4J7B1, a Plant-Osmoprotectant Soil Microorganism.
Journal: Genome announcements
Published: May 23, 2015
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Journal: European journal of neurology
Published: March 27, 2015
Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.
Journal: Journal of neuromuscular diseases
Published: January 01, 2015
Last Updated: 09/26/2026