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Ancient origin of the CAG expansion causing Huntingtons disease in a Spanish population.

García-Planells, Javier; Burguera, Juan A.; Solís, Pilar; Millán, José M.; Ginestar Peiro, Damián; Palau, Francesc; Espinós-Armero, Carmen Ángeles (John Wiley & Sons, 2005-05)

[EN] Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized clinically by progressive motor impairment, cognitive decline, and emotional deterioration. The disease is caused by the abnormal ...
Phylogeography of the Atlantic Blue Crab Callinectes sapidus (Brachyura: Portunidae) in the Americas versus the Mediterranean Sea: Determining Origins and Genetic Connectivity of a Large-Scale Invasion

Schubart, Christoph D.; Deli, Temim; Mancinelli, Giorgio; Cilenti, Lucrezia; Gil-Fernández, Alberto; Falco, S.; Berger, Selina (MDPI AG, 2023-01)

[EN] Due to its large size and importance in commercial and recreational fishery, the blue crab, Callinectes sapidus, has always been a well-known crab species all along the temperate and tropical American east coast. Over ...
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4

Claramunt, R.; Sevilla, Teresa; Lupo,Vincenzo; Cuesta, A.; Millán, J.M.; Vilchez, Juan J.; Palau, F.; Espinós-Armero, Carmen Ángeles (Blackwell Publishing, 2007-04)

[EN] Charcot-Marie-Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began this study, three genes or loci associated with inherited ...

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