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Human Genetics|June 1, 1997
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsiesS Bort, E Nelis, V Timmerman, et al.
Human Genetics|September 12, 2000
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patientsM De Castro, J García-Planells, E Monrós, et al.
Neurology|August 25, 2010
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathyN Muelas, P Hackman, H Luque, et al.
Nutricion Hospitalaria|February 3, 2025
[The NOA project (Oncological Nutrition in Andalucía) in clinical practice: results 6 months after project completion]Francisco J Vílchez-López, María González-Pacheco, María Del Mar Roca-Rodríguez, et al.
European Journal of Neurology|February 15, 2020
Clinical spectrum of BICD2 mutationsM Frasquet, A Camacho, R Vílchez, et al.
European Journal of Neurology|July 25, 2024
Insights into phenotypic variability caused by GARS1 pathogenic variantsJesús Jiménez-Jiménez, Irene Navarrete, Inmaculada Azorín, et al.
Nutricion Hospitalaria|February 25, 2014
[Effect of gastric bypass on the cardiovascular risk and quality of life in morbid obese patients]I Mateo Gavira, F J Vílchez López, M Cayón Blanco, et al.
Scientific Reports|July 14, 2017
Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich's ataxia patientsM Seco-Cervera, D González-Rodríguez, J S Ibáñez-Cabellos, et al.
Brain : a Journal of Neurology|October 27, 2015
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth diseaseTeresa Sevilla, Vincenzo Lupo, Dolores Martínez-Rubio, et al.
Neuromuscular Disorders : NMD|September 18, 2012
Trunk muscle involvement in late-onset Pompe disease: study of thirty patientsAída Alejaldre, Jordi Díaz-Manera, Sabrina Ravaglia, et al.
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