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Clinical Genetics|July 16, 2003
Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 familiesJ Carmona, J A Burguera, B Mollà, et al.American Journal of Human Genetics|November 1, 1995
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13L Montermini, F Rodius, L Pianese, et al.American Journal of Human Genetics|July 1, 1997
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeatE Monrós, M D Moltó, F Martínez, et al.Journal of Medical Genetics|March 24, 2009
Mutations in the urocanase gene UROC1 are associated with urocanic aciduriaC Espinós, M Pineda, D Martínez-Rubio, et al.European Journal of Neurology|July 25, 2015
The EGR2 gene is involved in axonal Charcot-Marie-Tooth diseaseT Sevilla, R Sivera, D Martínez-Rubio, et al.Clinical Genetics|June 30, 2010
Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuriaC Espinós, A García-Cazorla, D Martínez-Rubio, et al.Human Molecular Genetics|December 1, 1993
Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesisF Palau, A Löfgren, P De Jonghe, et al.Annals of Neurology|March 1, 1995
Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9qF Palau, G De Michele, J J Vilchez, et al.Neurologia (Barcelona, Spain)|November 1, 1995
[Deletion of 17p11.2 chromosome in Spanish families with hereditary neuropathy and abnormal sensitivity to pressure]A Pou Serradell, J M Espadaler, J M Aragonés, et al.Neurologia (Barcelona, Spain)|September 26, 2000
Spanish family with Machado-Joseph disease: neurophysiological features and neuropathy studyJ Arpa, J García-Planells, R Soler, et al.Pageof 6