showing 4 related works from this author
Novel sexual dimorphism in a new genus of Bathynellidae from Russia, with a revision of phylogenetic relationships
2019
Bathynellidae is the neglected family of Bathynellacea, a groundwater group of crus- taceans with 33 genera and 107 species described and almost half of them included in the `catch-all¿ genus Bathynella. Due to the morphological homogeneity of the spe- cies, the taxonomic uncertainties have accumulated over time. Therefore, to explore the phylogenetic relationships among taxa, a combined approach using morphologi- cal and molecular data is needed. In this paper, we performed a phylogenetic analysis based on partial sequences of COI and 18S including 30 species of Bathynellidae. This data set represents the most updated one, including a new genus and a new spe- cies (Altainella calcarata gen…
Groundwater biodiversity in Europe
2009
18 páginas, 7 figuras, 4 tables et al
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
2017
AbstractMutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicenter study analyzed the clinical and genetic characteristics of patients with GDAP1 mutations across Spain. 99 patients were identified, which were distributed across most of Spain, but especially in the Northwest and Mediterranean regions. The most common genotypes were p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of autosomal recessive patients). Patients with recessively inherited mutations had a more seve…
Molecular characterization of congenital myasthenic syndromes in Spain.
2017
Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders, all of which impair neuromuscular transmission. Epidemiological data and frequencies of gene mutations are scarce in the literature. Here we describe the molecular genetic and clinical findings of sixty-four genetically confirmed CMS patients from Spain. Thirty-six mutations in the CHRNE, RAPSN, COLQ, GFPT1, DOK7, CHRNG, GMPPB, CHAT, CHRNA1, and CHRNB1 genes were identified in our patients, with five of them not reported so far.. These data provide an overview on the relative frequencies of the different CMS subtypes in a large Spanish population. CHRNE mutations are the most common cause of CMS in Spain, …