Ana M Cobo
Overview
Explore the profile of Ana M Cobo including associated specialties, affiliations and a list of published articles.
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Articles
3
Citations
173
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Recent Articles
1.
Mazon M, Barros F, de la Pena P, Quesada J, Escudero A, Cobo A, et al.
Neuromuscul Disord
. 2011 Nov;
22(3):231-43.
PMID: 22094069
Myotonia congenita is an inherited muscle disorder caused by mutations in the CLCN1 gene, a voltage-gated chloride channel of skeletal muscle. We have studied 48 families with myotonia, 32 out...
2.
Dauwerse J, Dixon J, Seland S, Ruivenkamp C, van Haeringen A, Hoefsloot L, et al.
Nat Genet
. 2010 Dec;
43(1):20-2.
PMID: 21131976
We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS). Subsequently, we detected 20 additional...
3.
Garcia de Andoin N, Echeverria J, Cobo A, Rey A, Paisan L, de Munain A
Fertil Steril
. 2005 Sep;
84(3):756.
PMID: 16169416
Objective: To report a case of nonidentical twins affected with a congenital form of Steinert's myotonic dystrophy (DM1), conceived by IVF owing to parental sterility, in which the mother presented...