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Journal of Medical Genetics|November 1, 1991
Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis familiesT Casals, V Nunes, C Lázaro, et al.
Human Molecular Genetics|June 1, 1993
Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) geneC Lázaro, A Gaona, A Ravella, et al.
Human Genetics|June 1, 1997
Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 (SCA1) gene in schizophrenic patientsM A Pujana, L Martorell, V Volpini, et al.
Case Reports in Neurology|May 3, 2011
Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic TestingB Quintáns, J Pardo, B Campos, et al.
Neuroscience Letters|May 18, 2005
Spinocerebellar ataxia type 2 (SCA2) with white matter involvementJ Armstrong, I Bonaventura, A Rojo, et al.
Neurology|January 1, 1995
Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptomsD Genis, T Matilla, V Volpini, et al.
Human Molecular Genetics|December 1, 1993
Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male biasT Matilla, V Volpini, D Genís, et al.
American Journal of Medical Genetics|March 2, 1999
Anticipation is not associated with CAG repeat expansion in parent-offspring pairs of patients affected with schizophreniaL Martorell, M A Pujana, J Valero, et al.
Nuclear Medicine Communications|September 1, 1990
Cortical cerebral blood flow in HIV-1-related dementia complexC L Maini, F Pigorini, F M Pau, et al.
Human Genetics|December 1, 1996
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patientsC Lázaro, A Gaona, P Ainsworth, et al.
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