Publicaciones 2011

A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1. Diz P, Alvarez-Iglesias V, Feijoo JF, Limeres J, Seoane J, Tomás I, Carracedo A. Oral Dis. 2011 Sep; Volume: 17; Issue: 6; Pages: 610-614; DOI: 10.1111/j.1601-0825.2011.01823.x.

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ. Neuromuscular Disord. 2011 Apr; Volume: 21; Issue: 4; Pages: 254-262; DOI: 10.1016/j.nmd.2010.12.011.

A putative hepitype in the ATM Gene associated with chronic lymphocytic leukemia risk. Martín-Guerrero I, Enjuanes A, Richter J, Ammerpohl O, Colomer D, Ardanaz M, Marco F, Salas A, Campo E, Siebert R, García-Orad A. Gene Chromosome Canc. 2011 Nov; 50(11): 887-95; DOI: 10.1002/gcc.20912. Epub 2011 Aug 24.

A statistical framework for the interpretation of mtDNA mixtures: Forensic and medical applications. Egeland Th, Salas A. PLoS One. 2011; 6(10): e26723.

A study of East Timor variability using the SNPforID 52-plex SNP panel. Santos C, Phillips C, Fondevila M, Porras-Hurtado L, Carracedo A, Souto L, Lareu MV. Forensic Sci Int Genet. 2011 Jan; Volume: 5; Issue: 1; Pages: E25-E26; DOI: 10.1016/j.fsigen.2010.03.006.

A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22. Abulí A, Fernández-Rozadilla C, Giráldez MD, Muñoz J, Gonzalo V, Bessa X, Bujanda L, Reñé JM, Lanas A, García AM, Saló J, Argüello L, Vilella A, Carreño R, Jover R, Xicola RM, Llor X, Carvajal-Carmona L, Tomlinson IP, Kerr DJ, Houlston RS, Piqué JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C, Castellví-Bel S; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Brit J Cancer. 2011 Sep 6; Volume: 105; Issue: 6; Pages: 870-875; DOI: 10.1038/bjc.2011.296.

Acute Streptococcus suis meningitis in a pig breeder. Fernández-Ferro J, López-González FJ, Pardo F, Pías-Peleteiro JM. Enferm Infec Micr Cl. 2011 May; Volume: 29; Issue: 5; Pages: 396-397; DOI: 10.1016/j.eimc.2010.12.013.

Adaptive selection of an incretin gene in Eurasian populations. Chang CL, Cai JJ, Lo C, Amigo J, Park JI, Hsu SY. Genome Res. 2011 Jan; 21(1): 21-32. Epub 2010 Oct 26.

Allele frequencies of the new European Standard Set (ESS) loci in the Italian population. Berti A, Brisighelli F, Bosetti A, Pilli E, Trapani C, Tullio V, Franchi C, Lago G, Capelli C. Forensic Sci Int Genet. 2011 Nov; 5(5): 548-9. Epub 2010 Feb 9.

An update of in silico tools for the prediction of pathogenesis in missense variants. Brea-Fernandez, AJ; Ferro, M; Fernandez-Rozadilla, C; Blanco, A; Fachal, L; Santamarina, M; Vega, A; Pazos, A; Carracedo, A; Ruiz-Ponte, C. Curr Bioinform. 2011 Jun; Volume: 6; Issue: 2; Pages: 185-198.

Analysis of global variability in 15 established and 5 new European Standard Set (ESS) STRs using the CEPH human genome diversity panel. Phillips C, Fernandez-Formoso L, Garcia-Magariños M, Porras L, Tvedebrink T, Amigo J, Fondevila M, Gomez-Tato A, Alvarez-Dios J, Freire-Aradas A, Gomez-Carballa A, Mosquera-Miguel A, Carracedo A, Lareu MV. Forensic Sci Int Genet. 2011 Jun; Volume: 5; Issue: 3; Pages: 155-169; DOI: 10.1016/j.fsigen.2010.02.003.

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. Rodríguez-Pazos L, Ginarte M, Fachal L, Toribio J, Carracedo A, Vega A. Brit J Dermatol. 2011 Oct; 165(4): 906-11; DOI: 10.1111/j.1365-2133.2011.10454.x. Epub 2011 Aug 4.

Autobiographical narratives in Williams syndrome: Structural, process and content dimensions. Goncalves, OF; Pinheiro, AP; Sampaio, A; Sousa, N; Fernandez, M; Henriques, M. J Dev Phys Disabil. 2011 Aug; nº 23, pp. 289-302; DOI 10.1007/s10882-011-9228-2.

Autosomal SNP typing of forensic samples with the GenPlex™ HID System: Results of a collaborative study. Tomas C, Axler-DiPerte G, Budimlija ZM, Børsting C, Coble MD, Decker AE, Eisenberg A, Fang R, Fondevila M, Fredslund SF, Gonzalez S, Hansen AJ, Hoff-Olsen P, Haas C, Kohler P, Kriegel AK, Lindblom B, Manohar F, Maroñas O, Mogensen HS, Neureuther K, Nilsson H, Scheible MK, Schneider PM, Sonntag ML, Stangegaard M, Syndercombe-Court D, Thacker CR, Vallone PM, Westen AA, Morling N. Forensic Sci Int Genet. 2011 Nov; 5(5): 369-75. Epub 2010 Jul 22.

Birt-Hogg-Dube syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene. Alonso-González J, Rodríguez-Pazos L, Fernández-Redondo V, Vega-Gliemmo A, Toribio J. Int J Dermatol. 2011 Aug; Volume: 50; Issue: 8; Pages: 968-971; DOI: 10.1111/j.1365-4632.2010.04854.x.

Call for participation in the neurogenetics consortium within the Human Variome Project. Haworth A, Bertram L, Carrera P, Elson JL, Braastad CD, Cox DW, Cruts M, den Dunnen JT, Farrer MJ, Fink JK, Hamed SA, Houlden H, Johnson DR, Nuytemans K, Palau F, Rayan DL, Robinson PN, Salas A, Schüle B, Sweeney MG, Woods MO, Amigo J, Cotton RG, Sobrido MJ. 2011 Aug; Volume: 12; Issue: 3; Pages: 169-173; DOI: 10.1007/s10048-011-0287-4.

Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins. Abulí A, Fernández-Rozadilla C, Alonso-Espinaco V, Muñoz J, Gonzalo V, Bessa X, González D, Clofent J, Cubiella J, Morillas JD, Rigau J, Latorre M, Fernández-Bañares F, Peña E, Riestra S, Payá A, Jover R, Xicola RM, Llor X, Carvajal-Carmona L, Villanueva CM, Moreno V, Piqué JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C, Castellví-Bel S; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Bmc Cancer. 2011 Aug 5; Volume: 11; Article Number: 339; DOI: 10.1186/1471-2407-11-339.

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Muñiz-Pérez S, Sobrido MJ. Eur J Neurol. 2011 Oct; 18(10): 1203-11; DOI: 10.1111/j.1468-1331.2011.03439.x. Epub 2011 Jun 4.

Characteristics of the Shiga-toxin-producing enteroaggregative Escherichia Coli O104:H4 German outbreak strain and of STEC strains isolated in Spain. Mora A, Herrrera A, López C, Dahbi G, Mamani R, Pita JM, Alonso MP, Llovo J, Bernárdez MI, Blanco JE, Blanco M, Blanco J. Int Microbiol. 2011 Sep; 14(3): 121-41.

Characterization of a new mutation in the GADP1 gene causing axonal autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Guijarro, M; Blanco-Arias, P; Pardo, J; Concheiro-Alvarez, C; San Millan, B; Joglar-Santos, J; Arias-Gomez, M; Fernandez-Balbuena, CN; Alvarez, AC; Sobrido, M . Neuromuscular Disord. 2011 Oct; Volume: 21; Issue: 9-10; Pages: 688-689; DOI: 10.1016/j.nmd.2011.06.91.

Clopidogrel and acetylsalycilic acid therapy monitoring by liquid chromatography tandem mass spectrometry. Luchessi, AD; Concheiro, M; Quintela, O; Hirata, RDC; Brion, M; Carracedo, A; Iniguez, A; Lopez-Rivadulla, M; Hirata, MH. Ther Drug Monit. 2011 Aug; Volume: 33; Issue: 4; Pages: 500-500.

Common variants at VRK2 and TCF4 conferring risk of schizophrenia. Steinberg S, de Jong S; Irish Schizophrenia Genomics Consortium, Andreassen OA, Werge T, Børglum AD, Mors O, Mortensen PB, Gustafsson O, Costas J, Pietiläinen OP, Demontis D, Papiol S, Huttenlocher J, Mattheisen M, Breuer R, Vassos E, Giegling I, Fraser G, Walker N, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Agartz I, Melle I, Djurovic S, Strengman E; GROUP, Jürgens G, Glenthøj B, Terenius L, Hougaard DM, Ørntoft T, Wiuf C, Didriksen M, Hollegaard MV, Nordentoft M, van Winkel R, Kenis G, Abramova L, Kaleda V, Arrojo M, Sanjuán J, Arango C, Sperling S, Rossner M, Ribolsi M, Magni V, Siracusano A, Christiansen C, Kiemeney LA, Veldink J, van den Berg L, Ingason A, Muglia P, Murray R, Nöthen MM, Sigurdsson E, Petursson H, Thorsteinsdottir U, Kong A, Rubino IA, De Hert M, Réthelyi JM, Bitter I, Jönsson EG, Golimbet V, Carracedo A, Ehrenreich H, Craddock N, Owen MJ, O’Donovan MC; Wellcome Trust Case Control Consortium 2, Ruggeri M, Tosato S, Peltonen L, Ophoff RA, Collier DA, St Clair D, Rietschel M, Cichon S, Stefansson H, Rujescu D, Stefansson K. Hum Mol Genet. 2011 Oct 15; 20(20): 4076-81. Epub 2011 Jul 26.

Computational rediction of structure-activity relationships for the binding of aminocyclitols to beta-glucocerebrosidase. Díaz L, Bujons J, Delgado A, Gutiérrez-de-Terán H, Åqvist J. J Chem Inf Model. 2011 Mar; Volume: 51; Issue: 3; Pages: 601-611; DOI: 10.1021/ci100453a.

CYP2D6 genotyping by liquid chromatography-electrospray ionization mass spectrometry. Beer B, Erb R, Pitterl F, Niederstätter H, Maroñas O, Gesteira A, Carracedo A, Piatkov I, Oberacher H. Anal Bioanal Chem. 2011 Jun; Volume: 400; Issue: 8; Pages: 2361-2370; DOI: 10.1007/s00216-010-4597-4

Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: A study in spanish and italian populations and meta-analysis. Docampo E, Giardina E, Riveira-Muñoz E, de Cid R, Escaramís G, Perricone C, Fernández-Sueiro JL, Maymó J, González-Gay MA, Blanco FJ, Hüffmeier U, Lisbona MP, Martín J, Carracedo A, Reis A, Rabionet R, Novelli G, Estivill X. Arthritis Rheum. 2011 Jul; Volume: 63; Issue: 7; Pages: 1860-1865; DOI: 10.1002/art.30340.

Description of four cases of simple-partial status epilepticus presenting as epileptic aphasia. Fernandez-Ferro, J; Rodriguez-Osorio, X; Pardo, J; Moreno, E; Lopez-Gonzalez, FJ; Corredera, E; Peleteiro, M . 2011; 52 (Suppll.8): 73-4.

Do adolescents who use stimulants have a different personality?. Becoña E, López A, del Río EF, Martínez U, Fraga J, Osorio J, Arrojo M, López F, Domínguez MN. 2011 Nov; 23(4): 552-9.

Drunkenness, driving and sexual relations in young cocaine and ecstasy users. Becoña Iglesias E, López-Durán A, Fernández Del Río E, Martínez Pradeda Ú, Osorio López J, Fraga Ares J, Arrojo Romero M, López Crecente F, Domínguez González MN. 2011 Sep; Vol 23(3): 205-218.

Early Y chromosome lineages in Africa: The origin and dispersal of Homo sapiens. Capelli, C; Batini, C; Ferri, G; Destro-Bisol, G; Brisighelli, F; Luiselli, D; Sanchez-Diz, P; Rocha, J; Jorde, L; Brehm, A; Montano, V; Elwali, NE; Spedini, G; D’Amato, ME; Myres, N; Ebbesen, P; Comas, D. Am J Phys Anthropol. 2011; Volume: 144; Supplement: 52; Pages: 103-103.

Efficacy of intravenous levetiracetam as an add-on treatment in status epilepticus: A multicentric observational study. Aiguabella M, Falip M, Villanueva V, de la Peña P, Molins A, Garcia-Morales I, Saiz RA, Pardo J, Tortosa D, Sansa G, Miró J. Seizure-Eur J Epilep. 2011 Jan; Volume: 20; Issue: 1; Pages: 60-64; DOI: 10.1016/j.seizure.2010.10.009.

Electrochemical DNA base pairs quantification and endonuclease cleavage detection. García T, Revenga-Parra M, Sobrino B, Carracedo A, Alonso C, Lorenzo E, Pariente F. Biosens Bioelectron. 2011 Sep 15; Volume: 27; Issue: 1; Pages: 40-45; DOI: 10.1016/j.bios.2011.06.003.

ENGINES: Exploring single nucleotide variation in entire human genomes. Amigo J, Salas A, Phillips C. Bmc Bioinformatics. 2011 Apr 19; Volume: 12; Article Number: 105; DOI: 10.1186/1471-2105-12-105.

Evidence for classification of c.1852_1853AA > GC in MLH1 as a neutral variant for Lynch syndrome. Castillejo A, Guarinos C, Martinez-Canto A, Barbera VM, Egoavil C, Castillejo MI, Perez-Carbonell L, Sanchez-Heras AB, Segura A, Ochoa E, Lazaro R, Ruiz-Ponte C, Bujanda L, Andreu M, Castells A, Carracedo A, Llor X, Clofent J, Alenda C, Paya A, Jover R, Soto JL. Bmc Med Genet. 2011 Jan 19; Volume: 12; Article Number: 12; DOI: 10.1186/1471-2350-12-12.

Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes. Gómez-Carballa A, Cerezo M, Balboa E, Heredia C, Castro-Feijóo L, Rica I, Barreiro J, Eirís J, Cabanas P, Martínez-Soto I, Fernández-Toral J, Castro-Gago M, Pombo M, Carracedo Á, Barros F, Salas A. PLoS One. 2011 Apr 19; Volume: 6; Issue: 4; Article Number: e18348; DOI: 10.1371/journal.pOne.0018348.

General cognitive functioning and psycholinguistic abilities in children with Smith-Magenis Syndrome. Garayzábal Heinze E, Lens Villaverde M, Moruno López E, Conde Magro T, Moura LF, Fernández M, Sampaio A. 2011; Vol. 23, nº 4, pp. 725-731.

Genetic analysis of the SNPforID 34-plex ancestry informative SNP panel in Tunisian and Libyan populations. Khodjet-el-Khil H, Fadhlaoui-Zid K, Cherni L, Phillips C, Fondevila M, Carracedo A, Ben Ammar-Elgaaied A. Forensic Sci Int Genet. 2011 Jun; Volume: 5; Issue: 3; Pages: E45-E47; DOI: 10.1016/j.fsigen.2010.07.007.

Genetic association study of age-related macular degeneration in the Spanish population. Brión M, Sanchez-Salorio M, Cortón M, de la Fuente M, Pazos B, Othman M, Swaroop A, Abecasis G, Sobrino B, Carracedo A; Spanish multi-centre group of AMD. Acta Ophthalmol. 2011 Feb; Volume: 89; Issue: 1; Pages: E12-E22; DOI: 10.1111/j.1755-3768.2010.02040.x.

Genetic associations in the vitamin d receptor and colorectal cancer in african americans and Caucasians. Kupfer SS, Anderson JR, Ludvik AE, Hooker S, Skol A, Kittles RA, Keku TO, Sandler RS, Ruiz-Ponte C, Castellvi-Bel S, Castells A, Carracedo A, Ellis NA. PLoS One. 2011; 6(10): e26123. Epub 2011 Oct 27.

Genetic counselling in Neurology: A complex problem that requires regulation. Quintáns B, Prieto MF, Carracedo A, Sobrido MJ. 2011 Apr; Volume: 26; Issue: 3; Pages: 129-136; DOI: 10.1016/j.nrl.2010.09.010.

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry. Graña B, Fachal L, Darder E, Balmaña J, Ramón Y Cajal T, Blanco I, Torres A, Lázaro C, Diez O, Alonso C, Santamariña M, Velasco A, Teulé A, Lasa A, Blanco A, Izquierdo A, Borràs J, Gutiérrez-Enríquez S, Vega A, Brunet J. Breast Cancer Res Treat. 2011 Jul; 128(2): 573-9. Epub 2011 Mar 29.

Heterozygosity at catechol-O-methyltransferase Val158Met and schizophrenia: New data and meta-analysis. Costas J, Sanjuán J, Ramos-Ríos R, Paz E, Agra S, Ivorra JL, Páramo M, Brenlla J, Arrojo M. J Psychiatr Res. 2011 Jan; Volume: 45; Issue: 1; Pages: 7-14; DOI: 10.1016/j.jpsychires.2010.04.021.

Identification of positions in the human neuropeptide Y/peptide YY receptor Y2 that contribute to pharmacological differences between receptor subtypes. Fällmar H, Åkerberg H, Gutiérrez-de-Terán H, Lundell I, Mohell N, Larhammar D. 2011 Aug; 45(4): 293-300; DOI: 10.1016/j.npep.2011.05.006. Epub 2011 Jun 22.

Interaction between COMT haplotypes and cannabis in schizophrenia: A case-only study in two samples from Spain. Costas J, Sanjuán J, Ramos-Ríos R, Paz E, Agra S, Tolosa A, Páramo M, Brenlla J, Arrojo M. Schizophr Res. 2011 Apr; Volume: 127; Issue: 1-3; Pages: 22-27; DOI: 10.1016/j.schres.2011.01.014.

International distribution and age estimation of the portuguese BRCA2 c.156_157insAlu founder mutation. Peixoto A, Santos C, Pinheiro M, Pinto P, Soares MJ, Rocha P, Gusmão L, Amorim A, van der Hout A, Gerdes AM, Thomassen M, Kruse TA, Cruger D, Sunde L, Bignon YJ, Uhrhammer N, Cornil L, Rouleau E, Lidereau R, Yannoukakos D, Pertesi M, Narod S, Royer R, Costa MM, Lazaro C, Feliubadaló L, Graña B, Blanco I, de la Hoya M, Caldés T, Maillet P, Benais-Pont G, Pardo B, Laitman Y, Friedman E, Velasco EA, Durán M, Miramar MD, Valle AR, Calvo MT, Vega A, Blanco A, Diez O, Gutiérrez-Enríquez S, Balmaña J, Ramon y Cajal T, Alonso C, Baiget M, Foulkes W, Tischkowitz M, Kyle R, Sabbaghian N, Ashton-Prolla P, Ewald IP, Rajkumar T, Mota-Vieira L, Giannini G, Gulino A, Achatz MI, Carraro DM, de Paillerets BB, Remenieras A, Benson C, Casadei S, King MC, Teugels E, Teixeira MR. Breast Cancer Res Treat. 2011 Jun; Volume: 127; Issue: 3; Pages: 671-679; DOI: 10.1007/s10549-010-1036-3.

Longitudinal assessment of narrative profile in a williams syndrome patient. Fernández Prieto M, Sampaio A, Lens M, Carracedo Á, Gonçalves Ó F. Brit J Dev Disabil. 2011 Jan; Volume 57, nº 112, pp. 91-99 doi: 10.1179/096979511798967142.

Male lineages in South American Native groups: evidence of M19 traveling south. Toscanini U, Gusmão L, Berardi G, Gomes V, Amorim A, Salas A, Raimondi E. Am J Phys Anthropol. 2011 Oct; 146(2): 188-96; DOI: 10.1002/ajpa.21562. Epub 2011 Aug 8.

Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients. Zhang AM, Jia X, Bi R, Salas A, Li S, Xiao X, Wang P, Guo X, Kong QP, Zhang Q, Yao YG. PLoS One. 2011; 6(11): e27750.

Molecular dynamics simulations reveal insights into key structural elements of adenosine receptors. Rodríguez D, Piñeiro Á, Gutiérrez-de-Terán H. Biochemistry-Us. 2011 May 17; Volume: 50; Issue: 19; Pages: 4194-4208; DOI: 10.1021/bi200100t.

MRI amygdale volume in Williams syndrome JCR. Capitão L, Sampaio A, Sampaio C, Vasconcelos C, Férnandez M, Garayzábal E, Shenton ME, Gonçalves OF. Res Dev Disabil. 2011 Nov–Dec; Volume 32; Issue 6; Pages 2767–2772.

mRNA profiling for the identification of blood-results of a collaborative EDNAP exercise. Haas C, Hanson E, Bär W, Banemann R, Bento AM, Berti A, Borges E, Bouakaze C, Carracedo A, Carvalho M, Choma A, Dötsch M, Durianciková M, Hoff-Olsen P, Hohoff C, Johansen P, Lindenbergh PA, Loddenkötter B, Ludes B, Maroñas O, Morling N, Niederstätter H, Parson W, Patel G, Popielarz C, Salata E, Schneider PM, Sijen T, Sviezená B, Zatkalíková L, Ballantyne J. Forensic Sci Int Genet. 2011 Jan; Volume: 5; Issue: 1; Pages: 21-26; DOI: 10.1016/j.fsigen.2010.01.003.

Multilocus population analysis of Gavia immer (Aves: Gaviidae) mtDNA reveals low genetic diversity and lack of differentiation across the species breeding range. Bartolomé, C; Maside, X; Camphuysen, K; Heubeck, M; Bao, R. Org Divers Evol. 2011; 10.1007/s13127-011-0052-4.

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. Tomlinson IP, Carvajal-Carmona LG, Dobbins SE, Tenesa A, JOnes AM, Howarth K, Palles C, Broderick P, Jaeger EE, Farrington S, Lewis A, Prendergast JG, Pittman AM, Theodoratou E, Olver B, Walker M, Penegar S, Barclay E, Whiffin N, Martin L, Ballereau S, Lloyd A, Gorman M, Lubbe S; COGENT Consortium; CORGI Collaborators; EPICOLON Consortium, Howie B, Marchini J, Ruiz-Ponte C, Fernandez-Rozadilla C, Castells A, Carracedo A, Castellvi-Bel S, Duggan D, Conti D, Cazier JB, Campbell H, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Gallinger S, Newcomb P, Hopper J, Jenkins MA, AaltOnen LA, Kerr DJ, Cheadle J, Pharoah P, Casey G, Houlston RS, Dunlop MG. PLoS Genet. 2011 Jun; Volume: 7; Issue: 6; Article Number: e1002105; DOI: 10.1371/journal.pgen.1002105.

Neurophysiological study in cerebrotendinous xanthomatosis. Pilo B, de Blas G, Sobrido MJ, Navarro C, Grandas F, Barrero FJ, Moya MA, Jimenez-Escrig A. Muscle Nerve. 2011 Apr; Volume: 43; Issue: 4; Pages: 531-536; DOI: 10.1002/mus.21905.

New insights into the lake chad basin population structure revealed by high-throughput genotyping of mitochondrial DNA coding SNPs. Cerezo M, Černý V, Carracedo Á, Salas A. PLoS One. 2011 Apr; Volume: 6; Issue: 4; Article Number: e18682; DOI: 10.1371/journal.pOne.0018682.

Pharmacogenetics of OATP transporters reveals that SLCO1B1 c.388A > G variant is determinant of increased atorvastatin response. Rodrigues AC, Perin PM, Purim SG, Silbiger VN, Genvigir FD, Willrich MA, Arazi SS, Luchessi AD, Hirata MH, Bernik MM, Dorea EL, Santos C, Faludi AA, Bertolami MC, Salas A, Freire A, Lareu MV, Phillips C, Porras-Hurtado L, Fondevila M, Carracedo A, Hirata RD. Int J Mol Sci. 2011 Sep; Volume: 12; Issue: 9; Pages: 5815-5827; DOI: 10.3390/ijms12095815.

Potential involvement of serotonin receptor genes with age of onset and gender in schizophrenia: A preliminary study in a Spanish sample. Gilabert-Juan J, Ivorra JL, Tolosa A, Gratacòs M, Costas J, Sanjuán J, Moltó MD. Psychiatry Res. 2011 Mar 30; Volume: 186; Issue: 1; Pages: 153-154; DOI: 10.1016/j.psychres.2010.07.005.

Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases. Allegue C, Gil R, Blanco-Verea A, Santori M, Rodríguez-Calvo M, Concheiro L, Carracedo A, Brion M. Int J Legal Med. 2011 Jul; Volume: 125; Issue: 4; Pages: 565-572; DOI: 10.1007/s00414-011-0572-7.

Prevalence of parkinsonism and Parkinson’s disease in the Arosa Island (Spain): A community-based door-to-door survey. Seijo-Martinez M, Castro del Rio M, Rodríguez Alvarez J, Suarez Prado R, Torres Salgado E, Paz Esquete J, Sobrido MJ. J Neurol Sci. 2011 May 15; Volume: 304 Issue: 1-2  Pages: 49-54  DOI: 10.1016/j.jns.2011.02.015.

Primary malignant meningeal melanomatosis: a clinical, radiological and pathologic case study. Arias M, Alberte-Woodward M, Arias S, Dapena D, Prieto A, Suárez-Peñaranda JM. Acta Neurol Belg. 2011 Sept; 111.

Prodynorphin (PDYN) mutations are rare in spanish patients with spinocerebelar ataxia. García-Murias M , Villanueva-Millán MJ , Joglar-Santos J, Quintáns B, Carracedo A, Sobrido MJ,. Eur J Hum Genet. 2011 May; Volume: 19; Supplement: 2; Page: 391.

Publications and letters related to the forensic genetic analysis of low amounts of DNA. Schneider PM, Butler JM, Carracedo A. Forensic Sci Int Genet. Editorial material. 2011 Jan; Volume: 5; Issue: 1; Pages: 1-2; DOI: 10.1016/j.fsigen.2010.11.003.

Pyrimidine derivatives as potent and sSelective A(3) sdenosine receptor antagonists. Yaziji V, Rodríguez D, Gutiérrez-de-Terán H, Coelho A, Caamaño O, García-Mera X, Brea J, Loza MI, Cadavid MI, Sotelo E. J Med Chem. 2011 Jan 27; Volume: 54; Issue: 2; Pages: 457-471; DOI: 10.1021/jm100843z.

Rational design of a cyclin A fluorescent peptide sensor. Pazos E, Pérez M, Gutiérrez-de-Terán H, Orzáez M, Guevara T, Mascareñas JL, Vázquez ME. Org Biomol Chem. 2011 Oct 26; 9(22): 7629-32. Epub 2011 Aug 23.

Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder. Álvarez-Iglesias V, Mosquera-Miguel A, Cuscó I, Carracedo Á, Pérez-Jurado LA, Salas A. Bmc Med Genet. 2011 Apr 6; Volume: 12; Article Number: 50vDOI: 10.1186/1471-2350-12-50.

Screening of BSCL2 in Spanish patients with spastic paraparesis and motor neuropathies. Quintáns, S. Piñeiro , P. Blanco-Arias , J. Pardo , J. M. Prieto , S. I. Pascual-Pascual , A. Ordoñez-Ugalde , I. Sanz, A. Rojo, P. Suárez-Gil, Á. Carracedo. MJ. Sobrido. Eur J Hum Genet. 2011 May; Volume: 19; Supplement: 2; Page: 119.

Seizures in the emergency room: definite diagnosis after 2 years of follow-up. Costa-Arpin, E; Rodriguez-Osorio, X; Ferreiro, AL; Fernandez-Ferro, JC; Pias-Peleteiro, JM; Vazquez-Sanchez, F; Corredera-Garcia, E; Lopez-Gonzalez, FJ . Eur J Neurol. 2011 Sep; Volume: 18; Special Issue: SI; Supplement: 2; Pages: 455-455.

Signatures of the preagricultural peopling processes in sub-Saharan Africa as revealed by the phylogeography of early Y chromosome lineages. Batini C, Ferri G, Destro-Bisol G, Brisighelli F, Luiselli D, Sánchez-Diz P, Rocha J, Simonson T, Brehm A, Montano V, Elwali NE, Spedini G, D’Amato ME, Myres N, Ebbesen P, Comas D, Capelli C. Mol Biol Evol. 2011 Sep; 28(9): 2603-13. Epub 2011 Apr 4.

Socio-demographic and clinical factors influencing the adherence to treatment in Parkinson’s disease: the ADHESON study. Valldeoriola F, Coronell C, Pont C, Buongiorno MT, Cámara A, Gaig C, Compta Y; ADHESON Study Group (Sesar A). Eur J Neurol. 2011 Jul; 18(7):980-7; DOI: 10.1111/j.1468-1331.2010.03320.x. Epub 2010 Dec 29.

The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome. Catelli ML, Alvarez-Iglesias V, Gómez-Carballa A, Mosquera-Miguel A, Romanini C, Borosky A, Amigo J, Carracedo A, Vullo C, Salas A. Bmc Genet. 2011 Aug 30; Volume: 12; Article Number: 77; DOI: 10.1186/1471-2156-12-77.

The vein patterning 1 (VEP1) gene family laterally spread through an ecological network. Tarrío R, Ayala FJ, Rodríguez-Trelles F. PLoS One. 2011 Jul 26; Volume: 6; Issue: 7; Article Number: e22279; DOI: 10.1371/journal.pOne.0022279.

Unilateral calf atrophy secondary to a de novo mutation of the caveolin-3 gene. Arias Gómez M, Alberte-Woodwar M, Arias-Rivas S, Dapena D, Pintos E, Navarro C. Muscle Nerve. 2011 Jul; Volume: 44; Issue: 1; Pages: 126-128; DOI: 10.1002/mus.22079.

Use of a comprehensive panel of biomarkers to predict response to a fluorouracil-oxaliplatin regimen in patients with metastatic colorectal cancer. Lamas MJ, Duran G, Balboa E, Bernardez B, Touris M, Vidal Y, Gallardo E, Lopez R, Carracedo A, Barros F. 2011 Mar; Volume: 12; Issue: 3; Pages: 433-442; DOI: 10.2217/PGS.10.196.

Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis. Pilo de la Fuente B, Sobrido MJ, Girós M, Pozo L, Lustres M, Barrero F, Macarrón J, Díaz M, Jiménez-Escrig A. 2011 Sep; Volume: 26; Issue: 7; Pages: 397-404; DOI: 10.1016/j.nr1.2010.12.009.

Williams Syndrome hypersociability: a Neuropsychological study of the Amygdala and Prefrontal cortex Hypothesis. Capitão L, Sampaio A, Férnandez M, Sousa N, Pinheiro A, Gonçalves ÓF. Res Dev Disabil. 2011 May-Jun; 32(3): 1169-79. Epub 2011 Feb 12.