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Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.
Muscle Nerve. 2012 Apr;45(4):605-10. doi: 10.1002/mus.22324.
Muscle Nerve. 2012.
PMID: 22431096
[Whole genome sequencing: a qualitative leap forward in genetic studies].
Jiménez-Escrig A, Gobernado I, Sánchez-Herranz A.
Jiménez-Escrig A, et al. Among authors: gobernado i.
Rev Neurol. 2012 Jun 1;54(11):692-8.
Rev Neurol. 2012.
PMID: 22627750
Free article.
Review.
Spanish.
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Extended kindred with recessive late-onset Alzheimer disease maps to locus 8p22-p21.2: a genome-wide linkage analysis.
Baron M, Gomez-Tortosa E, Bochdanovits Z, Gobernado I, Rabano A, Munoz DG, Heutink P, Jimenez-Escrig A.
Baron M, et al. Among authors: gobernado i.
Alzheimer Dis Assoc Disord. 2012 Jan-Mar;26(1):91-5. doi: 10.1097/WAD.0b013e318215aaf4.
Alzheimer Dis Assoc Disord. 2012.
PMID: 22354140
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Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.
Gómez-Tortosa E, Barquero S, Barón M, Gil-Neciga E, Castellanos F, Zurdo M, Manzano S, Muñoz DG, Jiménez-Huete A, Rábano A, Sainz MJ, Guerrero R, Gobernado I, Pérez-Pérez J, Jiménez-Escrig A.
Gómez-Tortosa E, et al. Among authors: gobernado i.
J Alzheimers Dis. 2010;19(3):873-84. doi: 10.3233/JAD-2010-1292.
J Alzheimers Dis. 2010.
PMID: 20157243
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