Year |
Citation |
Score |
2023 |
Antón-Galindo E, Cabana-Domínguez J, Torrico B, Corominas R, Cormand B, Fernàndez-Castillo N. The pleiotropic contribution of genes in dopaminergic and serotonergic pathways to addiction and related behavioral traits. Frontiers in Psychiatry. 14: 1293663. PMID 37937232 DOI: 10.3389/fpsyt.2023.1293663 |
0.789 |
|
2023 |
Vila-Pueyo M, Cuenca-León E, Queirós AC, Kulis M, Sintas C, Cormand B, Martín-Subero JI, Pozo-Rosich P, Fernàndez-Castillo N, Macaya A. Genome-wide DNA methylation analysis in an antimigraine-treated preclinical model of cortical spreading depolarization. Cephalalgia : An International Journal of Headache. 43: 3331024221146317. PMID 36759321 DOI: 10.1177/03331024221146317 |
0.757 |
|
2022 |
O'Leary A, Fernàndez-Castillo N, Gan G, Yang Y, Yotova AY, Kranz TM, Grünewald L, Freudenberg F, Antón-Galindo E, Cabana-Domínguez J, Harneit A, Schweiger JI, Schwarz K, Ma R, Chen J, ... ... Cormand B, et al. Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits. Molecular Psychiatry. PMID 35948661 DOI: 10.1038/s41380-022-01722-4 |
0.308 |
|
2022 |
Cabana-Domínguez J, Torrico B, Reif A, Fernàndez-Castillo N, Cormand B. Comprehensive exploration of the genetic contribution of the dopaminergic and serotonergic pathways to psychiatric disorders. Translational Psychiatry. 12: 11. PMID 35013130 DOI: 10.1038/s41398-021-01771-3 |
0.821 |
|
2021 |
Fernàndez-Castillo N, Cabana-Domínguez J, Kappel DB, Torrico B, Weber H, Lesch KP, Lao O, Reif A, Cormand B. Exploring the Contribution to ADHD of Genes Involved in Mendelian Disorders Presenting with Hyperactivity and/or Inattention. Genes. 13. PMID 35052433 DOI: 10.3390/genes13010093 |
0.823 |
|
2021 |
Pineda-Cirera L, Cabana-Domínguez J, Lee PH, Fernàndez-Castillo N, Cormand B. Identification of genetic variants influencing methylation in brain with pleiotropic effects on psychiatric disorders. Progress in Neuro-Psychopharmacology & Biological Psychiatry. 110454. PMID 34637873 DOI: 10.1016/j.pnpbp.2021.110454 |
0.321 |
|
2021 |
Fernàndez-Castillo N, Cabana-Domínguez J, Corominas R, Cormand B. Molecular genetics of cocaine use disorders in humans. Molecular Psychiatry. PMID 34453125 DOI: 10.1038/s41380-021-01256-1 |
0.799 |
|
2020 |
Pineda-Cirera L, Cabana-Domínguez J, Grau-López L, Daigre C, Sánchez-Mora C, Palma-Álvarez RF, Ramos-Quiroga JA, Ribasés M, Cormand B, Fernàndez-Castillo N. Exploring allele specific methylation in drug dependence susceptibility. Journal of Psychiatric Research. PMID 32917399 DOI: 10.1016/J.Jpsychires.2020.07.044 |
0.381 |
|
2020 |
Torrico B, Antón-Galindo E, Fernàndez-Castillo N, Rojo-Francàs E, Ghorbani S, Pineda-Cirera L, Hervás A, Rueda I, Moreno E, Fullerton JM, Casadó V, Buitelaar JK, Rommelse N, Franke B, Reif A, ... ... Cormand B, et al. Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses. Journal of Clinical Medicine. 9. PMID 32545830 DOI: 10.3390/Jcm9061851 |
0.815 |
|
2020 |
Esteller-Cucala P, Maceda I, Børglum AD, Demontis D, Faraone SV, Cormand B, Lao O. Genomic analysis of the natural history of attention-deficit/hyperactivity disorder using Neanderthal and ancient Homo sapiens samples. Scientific Reports. 10: 8622. PMID 32451437 DOI: 10.1038/S41598-020-65322-4 |
0.365 |
|
2020 |
Rovira P, Demontis D, Sánchez-Mora C, Zayats T, Klein M, Mota NR, Weber H, Garcia-Martínez I, Pagerols M, Vilar L, Arribas L, Richarte V, Corrales M, Fadeuilhe C, Bosch R, ... ... Cormand B, et al. Shared genetic background between children and adults with attention deficit/hyperactivity disorder. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. PMID 32279069 DOI: 10.1038/S41386-020-0664-5 |
0.356 |
|
2020 |
Pineda-Cirera L, Cabana-Domínguez J, Benetó N, Díez H, Arenas C, Cormand B, Fernàndez-Castillo N. DDC (AADC) expression is not regulated by NFAT5 (TonEBP) in dopaminergic neural cell lines. Gene. 144569. PMID 32165301 DOI: 10.1016/J.Gene.2020.144569 |
0.772 |
|
2020 |
Roth Mota N, Poelmans G, Klein M, Torrico B, Fernàndez-Castillo N, Cormand B, Reif A, Franke B, Arias Vásquez A. Cross-disorder genetic analyses implicate dopaminergic signaling as a biological link between Attention-Deficit/Hyperactivity Disorder and obesity measures. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. PMID 31896117 DOI: 10.1038/S41386-019-0592-4 |
0.801 |
|
2019 |
Pineda-Cirera L, Shivalikanjli A, Cabana-Domínguez J, Demontis D, Rajagopal VM, Børglum AD, Faraone SV, Cormand B, Fernàndez-Castillo N. Exploring genetic variation that influences brain methylation in attention-deficit/hyperactivity disorder. Translational Psychiatry. 9: 242. PMID 31582733 DOI: 10.1038/S41398-019-0574-7 |
0.811 |
|
2019 |
Cabana-Domínguez J, Shivalikanjli A, Fernàndez-Castillo N, Cormand B. Genome-wide association meta-analysis of cocaine dependence: Shared genetics with comorbid conditions. Progress in Neuro-Psychopharmacology & Biological Psychiatry. 94: 109667. PMID 31212010 DOI: 10.1016/J.Pnpbp.2019.109667 |
0.801 |
|
2019 |
Torrico B, Shaw AD, Mosca R, Vivó-Luque N, Hervás A, Fernàndez-Castillo N, Aloy P, Bayés M, Fullerton JM, Cormand B, Toma C. Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes Journal of Psychiatry & Neuroscience : Jpn. 44: 1-10. PMID 31094488 DOI: 10.1503/Jpn.180184 |
0.826 |
|
2019 |
Arcos-Burgos M, Vélez JI, Martinez AF, Ribasés M, Ramos-Quiroga JA, Sánchez-Mora C, Richarte V, Roncero C, Cormand B, Fernández-Castillo N, Casas M, Lopera F, Pineda DA, Palacio JD, Acosta-López JE, et al. ADGRL3 (LPHN3) variants predict substance use disorder. Translational Psychiatry. 9: 42. PMID 30696812 DOI: 10.1038/S41398-019-0396-7 |
0.406 |
|
2019 |
Torrico B, Cabana-Domínguez J, Shivalikanjli A, Fernàndez-Castillo N, Cormand B. S68EXPLORING DOPAMINERGIC AND SEROTONERGIC PATHWAYS IN PSYCHIATRIC DISORDERS European Neuropsychopharmacology. 29: S148-S149. DOI: 10.1016/J.Euroneuro.2019.08.069 |
0.776 |
|
2019 |
Fernàndez-Castillo N, Cabana J, Torrico B, Cormand B. EXPLORING THE CONTRIBUTION TO ADHD OF GENES INVOLVED IN MENDELIAN DISORDERS (OMIM) PRESENTING WITH HYPERACTIVITY AND/OR INATTENTION European Neuropsychopharmacology. 29: S52. DOI: 10.1016/J.Euroneuro.2019.07.105 |
0.808 |
|
2019 |
Mota NR, Poelmans G, Klein M, Torrico B, Fernàndez-Castillo N, Cormand B, Reif A, Franke B, Arias-Vásquez A. All Roads Lead To Dopamine: Exploring The Genetic Link Between Adhd, Obesity Measures And Brain Volumes European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2019.07.103 |
0.776 |
|
2019 |
Cabana-Domínguez J, Shivalikanjli A, Fernàndez-Castillo N, Cormand B. SU49GENOME-WIDE ASSOCIATION META-ANALYSIS OF COCAINE DEPENDENCE IN SAMPLES WITH EUROPEAN ANCESTRY European Neuropsychopharmacology. 29: S1293-S1294. DOI: 10.1016/J.Euroneuro.2018.08.413 |
0.77 |
|
2019 |
Torrico B, Shaw A, Mosca R, Vivó-Luque N, Hervas A, Fernàndez-Castillo N, Aloy P, Bayés M, Fullerton J, Cormand B, Toma C. F21WHOLE EXOME SEQUENCING IDENTIFIES LRP1 AS NOVEL CANDIDATE GENE ACROSS PSYCHIATRIC DISORDERS European Neuropsychopharmacology. 29: S1120-S1121. DOI: 10.1016/J.Euroneuro.2018.08.101 |
0.809 |
|
2019 |
Mota NR, Klein M, Poelmans G, Fernàndez-Castillo N, Torrico B, Galesloot TE, Kiemeney LA, Cormand B, Arias-Vásquez A, Franke B. F2Elucidating The Genetic And Biological Factors Underlying The Relationship Between Adhd And Bmi Variation European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2018.08.082 |
0.784 |
|
2019 |
Esteller-Cucala P, Maceda I, Børglum A, Demontis D, Faraone SV, Cormand B, Lao O. Ancient Population Genomics Supports The Mismatch Hypothesis In Attention-Deficit/Hyperactivity Disorder European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2018.07.047 |
0.32 |
|
2019 |
Pineda-Cirera L, Cabana-Domínguez J, Roncero C, Rodriguez-Cintas L, Grau-López L, Palma-Álvarez RF, Daigre C, Ramos-Quiroga JA, Ribases M, Casas M, Cormand B, Fernàndez-Castillo N. Exploring Allele Specific Methylation (Asm) In Drug Dependence Susceptibility European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.08.421 |
0.344 |
|
2019 |
Esteller-Cucala P, Maceda I, Demontis D, Børglum AD, Neale B, Faraone SV, Cormand B, Lao O. Identification Of Polygenic Adaptation In Attention-Deficit/Hyperactivity Disorder Using Gwas Data European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.08.194 |
0.365 |
|
2019 |
Rovira P, Artigas MS, Garcia-Martínez I, Sánchez-Mora C, Pagerols M, Calvo-Sánchez E, Mortimer N, Corrales M, Richarte V, Cormand B, Casas M, Ramos-Quiroga JA, Ribasés M. Convergent Functional Genomics Approach To Identify Genes Involved In Attention Deficit/Hyperactivity Disorder European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.08.076 |
0.425 |
|
2019 |
Mota NR, Klein M, Galesloot TE, Kiemeney LA, Fernàndez-Castillo N, Torrico B, Cormand B, Franke B, Arias-Vásquez A. Attention Deficit Hyperactivity Disorder and Obesity: The Weight of Shared Genetic Risk Factors European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.06.108 |
0.795 |
|
2019 |
Ribasés M, Rovira P, Soler M, Demontis D, Børglum A, Sánchez C, Ramos-Quiroga JA, Cormand B, Casas M, Franke B, Haavik J, Reif A, Lesch K, Bau C. Meta-Analysis of Genome-Wide Association Studies On Adult Attention-Deficit and Hyperactivity Disorder European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.06.107 |
0.36 |
|
2019 |
Zhang-James Y, Fernàndez-Castillo N, Hess J, Cormand B, Faraone S. An Integrated and Network-Based Analysis of Genes For Aggression in Human and Rodent Models European Neuropsychopharmacology. 29: S735. DOI: 10.1016/J.Euroneuro.2017.06.061 |
0.37 |
|
2019 |
Fernàndez-Castillo N, Gan G, van Donkelaar MM, Vaht M, Weber H, Retz W, Meyer-Lindenberg A, Franke B, Harro J, Reif A, Faraone SV, Cormand B. RBFOX1, A Splicing Regulator, is A Candidate Gene For Aggressive Behavior European Neuropsychopharmacology. 29: S734-S735. DOI: 10.1016/J.Euroneuro.2017.06.060 |
0.417 |
|
2019 |
Cormand B, Faraone S, Franke B. The Aggressotype Project: Insights Into The Genetics of Aggression From Human and Animal Studies European Neuropsychopharmacology. 29: S733-S734. DOI: 10.1016/J.Euroneuro.2017.06.058 |
0.388 |
|
2019 |
Reif A, Freudenberg F, Candemir E, Fernàndez-Castillo N, Cormand B, Chiocchetti A, Slattery DA, O'Leary A. 14. Conditional Knockout of Rbfox1, a Cross-Disorder Psychiatric Risk Gene, Causes an Autism-Like Phenotype in Mice Biological Psychiatry. 85. DOI: 10.1016/J.Biopsych.2019.03.028 |
0.367 |
|
2018 |
Demontis D, Walters RK, Martin J, Mattheisen M, Als TD, Agerbo E, Baldursson G, Belliveau R, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Churchhouse C, Dumont A, Eriksson N, ... ... Cormand B, et al. Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nature Genetics. PMID 30478444 DOI: 10.1038/S41588-018-0269-7 |
0.378 |
|
2018 |
Franke B, Michelini G, Asherson P, Banaschewski T, Bilbow A, Buitelaar JK, Cormand B, Faraone SV, Ginsberg Y, Haavik J, Kuntsi J, Larsson H, Lesch KP, Ramos-Quiroga JA, Réthelyi JM, et al. Live fast, die young? A review on the developmental trajectories of ADHD across the lifespan. European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology. PMID 30195575 DOI: 10.1016/J.Euroneuro.2018.08.001 |
0.321 |
|
2018 |
Corominas J, Klein M, Zayats T, Rivero O, Ziegler GC, Pauper M, Neveling K, Poelmans G, Jansch C, Svirin E, Geissler J, Weber H, Reif A, Arias Vasquez A, Galesloot TE, ... ... Cormand B, et al. Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing. Molecular Psychiatry. PMID 30116028 DOI: 10.1038/S41380-018-0210-6 |
0.452 |
|
2018 |
Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, ... ... Cormand B, et al. Analysis of shared heritability in common disorders of the brain. Science (New York, N.Y.). 360. PMID 29930110 DOI: 10.1126/Science.Aap8757 |
0.39 |
|
2018 |
Zhang-James Y, Fernàndez-Castillo N, Hess JL, Malki K, Glatt SJ, Cormand B, Faraone SV. An integrated analysis of genes and functional pathways for aggression in human and rodent models. Molecular Psychiatry. PMID 29858598 DOI: 10.1038/S41380-018-0068-7 |
0.385 |
|
2018 |
Pineda-Cirera L, Cabana-Domínguez J, Roncero C, Cozar M, Grau-López L, Abad AC, Martínez-Luna N, Robles-Martínez M, Sánchez-Mora C, Ramos-Quiroga JA, Casas M, Ribasés M, Fernàndez-Castillo N, Cormand B. Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample. Drug and Alcohol Dependence. 187: 358-362. PMID 29715653 DOI: 10.1016/J.Drugalcdep.2018.03.013 |
0.329 |
|
2018 |
Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, ... ... Cormand B, et al. Paternally inherited cis-regulatory structural variants are associated with autism. Science (New York, N.Y.). 360: 327-331. PMID 29674594 DOI: 10.1126/Science.Aan2261 |
0.824 |
|
2018 |
Pagerols M, Richarte V, Sánchez-Mora C, Rovira P, Soler Artigas M, Garcia-Martínez I, Calvo-Sánchez E, Corrales M, da Silva BS, Mota NR, Victor MM, Rohde LA, Grevet EH, Bau CHD, Cormand B, et al. Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder. Scientific Reports. 8: 1881. PMID 29382897 DOI: 10.1016/J.Euroneuro.2017.08.393 |
0.42 |
|
2018 |
Urreizti R, Damanti S, Esteve C, Franco-Valls H, Castilla-Vallmanya L, Tonda R, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. Scientific Reports. 8: 694. PMID 29330474 DOI: 10.1038/S41598-017-19109-9 |
0.817 |
|
2017 |
Fernàndez-Castillo N, Gan G, van Donkelaar MMJ, Vaht M, Weber H, Retz W, Meyer-Lindenberg A, Franke B, Harro J, Reif A, Faraone SV, Cormand B. RBFOX1, encoding a splicing regulator, is a candidate gene for aggressive behavior. European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology. PMID 29174947 DOI: 10.1016/J.Euroneuro.2017.11.012 |
0.429 |
|
2017 |
Cabana-Domínguez J, Roncero C, Pineda-Cirera L, Palma-Álvarez RF, Ros-Cucurull E, Grau-López L, Esojo A, Casas M, Arenas C, Ramos-Quiroga JA, Ribasés M, Fernàndez-Castillo N, Cormand B. Association of the PLCB1 gene with drug dependence. Scientific Reports. 7: 10110. PMID 28860459 DOI: 10.1016/J.Euroneuro.2017.08.422 |
0.314 |
|
2017 |
Garcia-Martínez I, Sánchez-Mora C, Soler Artigas M, Rovira P, Pagerols M, Corrales M, Calvo-Sánchez E, Richarte V, Bustamante M, Sunyer J, Cormand B, Casas M, Ramos-Quiroga JA, Ribasés M. Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder. Scientific Reports. 7: 5407. PMID 28710364 DOI: 10.1038/S41598-017-05514-7 |
0.628 |
|
2017 |
Sintas C, Carreño O, Fernàndez-Castillo N, Corominas R, Vila-Pueyo M, Toma C, Cuenca-León E, Barroeta I, Roig C, Volpini V, Macaya A, Cormand B. Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia. Scientific Reports. 7: 2514. PMID 28566750 DOI: 10.1038/S41598-017-02554-X |
0.817 |
|
2017 |
Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, et al. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Scientific Reports. 7: 44138. PMID 28281571 DOI: 10.1038/Srep44138 |
0.834 |
|
2017 |
Arenas C, Toma C, Cormand B, Irigoien I. Identifying Extreme Observations, Outliers and Noise in Clinical and Genetic Data Current Bioinformatics. 12: 101-117. DOI: 10.2174/1574893611666160606161031 |
0.638 |
|
2017 |
Garcia I, Sánchez-Mora C, Pagerols M, Richarte V, Corrales M, Fadeuilhe C, Cormand B, Casas M, Ramos-Quiroga JA, Ribases M. Evidence For Association Of Genetic Variants In Pri-Mir-34B/C And Abnormal MIR-34C Expression With Attention-Deficit And Hyperactivity Disorder European Neuropsychopharmacology. 27. DOI: 10.1016/J.Euroneuro.2016.09.491 |
0.338 |
|
2017 |
Cormand B, Torrico B, Ghorbani S, Fernàndez-Castillo N, Pineda L, Hervás A, Franke B, Buitelaar J, Freitag C, Reif A, Rueda I, Kleppe R, Haavik J, Toma C. Contribution of The 14-3-3 Gene Family To Autism Spectrum Disorder European Neuropsychopharmacology. 27: S374-S375. DOI: 10.1016/J.Euroneuro.2016.09.404 |
0.839 |
|
2016 |
de Castro-Miró M, Tonda R, Escudero-Ferruz P, Andrés R, Mayor-Lorenzo A, Castro J, Ciccioli M, Hidalgo DA, Rodríguez-Ezcurra JJ, Farrando J, Pérez-Santonja JJ, Cormand B, Marfany G, Gonzàlez-Duarte R. Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. Plos One. 11: e0168966. PMID 28005958 DOI: 10.1371/Journal.Pone.0168966 |
0.673 |
|
2016 |
Sintas C, Fernàndez-Castillo N, Vila-Pueyo M, Pozo-Rosich P, Macaya A, Cormand B. Transcriptomic Changes in Rat Cortex and Brainstem after Cortical Spreading Depression with or Without Pre-Treatment with Migraine Prophylactic Drugs. The Journal of Pain : Official Journal of the American Pain Society. PMID 27919769 DOI: 10.1016/J.Jpain.2016.11.007 |
0.779 |
|
2016 |
Zayats T, Jacobsen KK, Kleppe R, Jacob CP, Kittel-Schneider S, Ribasés M, Ramos-Quiroga JA, Richarte V, Casas M, Mota NR, Grevet EH, Klein M, Corominas J, Bralten J, Galesloot T, ... ... Cormand B, et al. Exome chip analyses in adult attention deficit hyperactivity disorder. Translational Psychiatry. 6: e923. PMID 27754487 DOI: 10.1038/Tp.2016.196 |
0.407 |
|
2016 |
Garcia-Martínez I, Sánchez-Mora C, Pagerols M, Richarte V, Corrales M, Fadeuilhe C, Cormand B, Casas M, Ramos-Quiroga JA, Ribasés M. Preliminary evidence for association of genetic variants in pri-miR-34b/c and abnormal miR-34c expression with attention deficit and hyperactivity disorder. Translational Psychiatry. 6: e879. PMID 27576168 DOI: 10.1038/Tp.2016.151 |
0.321 |
|
2016 |
Cabana-Domínguez J, Roncero C, Grau-López L, Rodríguez-Cintas L, Barral C, Abad AC, Erikson G, Wineinger NE, Torrico B, Arenas C, Casas M, Ribasés M, Cormand B, Fernàndez-Castillo N. A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine Dependence. Scientific Reports. 6: 31033. PMID 27498889 DOI: 10.1038/Srep31033 |
0.803 |
|
2016 |
Klein M, Berger S, Hoogman M, Dammers J, Makkinje R, Heister AJ, Galesloot TE, Kiemeney LA, Weber H, Kittel-Schneider S, Lesch KP, Reif A, Ribasés M, Ramos-Quiroga JA, Cormand B, et al. Meta-analysis of the DRD5 VNTR in persistent ADHD. European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology. PMID 27480019 DOI: 10.1016/J.Euroneuro.2016.06.012 |
0.363 |
|
2016 |
Torrico B, Chiocchetti AG, Bacchelli E, Trabetti E, Hervás A, Franke B, Buitelaar JK, Rommelse N, Yousaf A, Duketis E, Freitag CM, Caballero-Andaluz R, Martinez-Mir A, Scholl FG, Ribasés M, ... ... Cormand B, et al. Lack of replication of previous autism spectrum disorder GWAS hits in European populations. Autism Research : Official Journal of the International Society For Autism Research. PMID 27417655 DOI: 10.1002/Aur.1662 |
0.801 |
|
2016 |
Brevik EJ, van Donkelaar MM, Weber H, Sánchez-Mora C, Jacob C, Rivero O, Kittel-Schneider S, Garcia-Martínez I, Aebi M, van Hulzen K, Cormand B, Ramos-Quiroga JA, Lesch KP, Reif A, et al. Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 27021288 DOI: 10.1002/Ajmg.B.32434 |
0.425 |
|
2016 |
Fernàndez-Castillo N, Cormand B. Aggressive behavior in humans: Genes and pathways identified through association studies. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 26773414 DOI: 10.1002/Ajmg.B.32419 |
0.398 |
|
2016 |
Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. American Journal of Medical Genetics. Part A. 170: 24-31. PMID 26768331 DOI: 10.1002/Ajmg.A.37418 |
0.813 |
|
2016 |
Pagerols M, Richarte V, Sánchez-Mora C, Garcia-Martínez I, Corrales M, Corominas M, Cormand B, Casas M, Ribasés M, Ramos-Quiroga JA. Pharmacogenetics of methylphenidate response and tolerability in attention-deficit/hyperactivity disorder Pharmacogenomics Journal. DOI: 10.1038/Tpj.2015.89 |
0.365 |
|
2015 |
Fernàndez-Castillo N, Cabana-Domínguez J, Soriano J, Sànchez-Mora C, Roncero C, Grau-López L, Ros-Cucurull E, Daigre C, van Donkelaar MM, Franke B, Casas M, Ribasés M, Cormand B. Transcriptomic and genetic studies identify NFAT5 as a candidate gene for cocaine dependence. Translational Psychiatry. 5: e667. PMID 26506053 DOI: 10.1038/Tp.2015.158 |
0.345 |
|
2015 |
Veroude K, Zhang-James Y, Fernàndez-Castillo N, Bakker MJ, Cormand B, Faraone SV. Genetics of aggressive behavior: An overview. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 26345359 DOI: 10.1002/Ajmg.B.32364 |
0.355 |
|
2015 |
Gómez-Grau M, Garrido E, Cozar M, Rodriguez-Sureda V, Domínguez C, Arenas C, Gatti RA, Cormand B, Grinberg D, Vilageliu L. Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases. Plos One. 10: e0135873. PMID 26287674 DOI: 10.1371/Journal.Pone.0135873 |
0.794 |
|
2015 |
Alemany S, Ribasés M, Vilor-Tejedor N, Bustamante M, Sánchez-Mora C, Bosch R, Richarte V, Cormand B, Casas M, Ramos-Quiroga JA, Sunyer J. New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 26174813 DOI: 10.1002/Ajmg.B.32341 |
0.628 |
|
2015 |
Sánchez-Mora C, Richarte V, Garcia-Martínez I, Pagerols M, Corrales M, Bosch R, Vidal R, Viladevall L, Casas M, Cormand B, Ramos-Quiroga JA, Ribasés M. Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 26174753 DOI: 10.1002/Ajmg.B.32340 |
0.394 |
|
2015 |
Weber H, Kittel-Schneider S, Heupel J, Weißflog L, Kent L, Freudenberg F, Alttoa A, Post A, Herterich S, Haavik J, Halmøy A, Fasmer OB, Landaas ET, Johansson S, Cormand B, et al. On the role of NOS1 ex1f-VNTR in ADHD-allelic, subgroup, and meta-analysis. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 26086921 DOI: 10.1002/Ajmg.B.32326 |
0.422 |
|
2015 |
Toma C, Torrico B, Hervás A, Salgado M, Rueda I, Valdés-Mas R, Buitelaar JK, Rommelse N, Franke B, Freitag C, Reif A, Pérez-Jurado LA, Battaglia A, Mazzone L, Bacchelli E, ... ... Cormand B, et al. Common and rare variants of microRNA genes in autism spectrum disorders. The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry. 1-11. PMID 25903372 DOI: 10.3109/15622975.2015.1029518 |
0.798 |
|
2015 |
Torrico B, Fernàndez-Castillo N, Hervás A, Milà M, Salgado M, Rueda I, Buitelaar JK, Rommelse N, Oerlemans AM, Bralten J, Freitag CM, Reif A, Battaglia A, Mazzone L, Maestrini E, ... Cormand B, et al. Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. European Journal of Human Genetics : Ejhg. PMID 25782667 DOI: 10.1038/Ejhg.2015.37 |
0.835 |
|
2015 |
Sánchez-Mora C, Ramos-Quiroga JA, Bosch R, Corrales M, Garcia-Martínez I, Nogueira M, Pagerols M, Palomar G, Richarte V, Vidal R, Arias-Vasquez A, Bustamante M, Forns J, Gross-Lesch S, Guxens M, ... ... Cormand B, et al. Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. 40: 915-26. PMID 25284319 DOI: 10.1038/Npp.2014.267 |
0.778 |
|
2015 |
Louter MA, Fernandez-Morales J, de Vries B, Winsvold B, Anttila V, Fernandez-Cadenas I, Vila-Pueyo M, Sintas C, van Duijn CM, Cormand B, Álvarez-Sabin J, Montaner J, Ferrari MD, van den Maagdenberg A, Palotie A, et al. Candidate-gene association study searching for genetic factors involved in migraine chronification. Cephalalgia : An International Journal of Headache. 35: 500-7. PMID 25169732 DOI: 10.1177/0333102414547141 |
0.796 |
|
2014 |
Sintas C, Fernández-Morales J, Vila-Pueyo M, Narberhaus B, Arenas C, Pozo-Rosich P, Macaya A, Cormand B. Replication study of previous migraine genome-wide association study findings in a Spanish sample of migraine with aura. Cephalalgia : An International Journal of Headache. PMID 25388962 DOI: 10.1177/0333102414557841 |
0.801 |
|
2014 |
Vila-Pueyo M, Pons R, Raspall-Chaure M, Marcé-Grau A, Carreño O, Sintas C, Cormand B, Pineda-Marfà M, Macaya A. Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. Journal of the Neurological Sciences. 344: 37-42. PMID 24996492 DOI: 10.1016/J.Jns.2014.06.014 |
0.839 |
|
2014 |
Hervás A, Toma C, RomarÃs P, Ribasés M, Salgado M, Bayes M, Balmaña N, Cormand B, Maristany M, Guijarro S, Arranz MJ. The involvement of serotonin polymorphisms in autistic spectrum symptomatology. Psychiatric Genetics. 24: 158-63. PMID 24887447 DOI: 10.1097/Ypg.0000000000000034 |
0.81 |
|
2014 |
Vila-Pueyo M, Gené GG, Flotats-Bastardes M, Elorza X, Sintas C, Valverde MA, Cormand B, Fernández-Fernández JM, Macaya A. A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 18: 430-3. PMID 24445160 DOI: 10.1186/1129-2377-14-S1-P24 |
0.819 |
|
2014 |
Ramos-Quiroga JA, Sánchez-Mora C, Casas M, Garcia-Martínez I, Bosch R, Nogueira M, Corrales M, Palomar G, Vidal R, Coll-Tané M, Bayés M, Cormand B, Ribasés M. Genome-wide copy number variation analysis in adult attention-deficit and hyperactivity disorder. Journal of Psychiatric Research. 49: 60-7. PMID 24269040 DOI: 10.1016/J.Jpsychires.2013.10.022 |
0.702 |
|
2014 |
Toma C, Torrico B, Hervás A, Valdés-Mas R, Tristán-Noguero A, Padillo V, Maristany M, Salgado M, Arenas C, Puente XS, Bayés M, Cormand B. Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. Molecular Psychiatry. 19: 784-90. PMID 23999528 DOI: 10.1038/Mp.2013.106 |
0.84 |
|
2014 |
Cormand B, Ribasés M, Sánchez-Mora C, García-Martínez I, Bosch R, Bayés M, Casas M, Ramos-Quiroga J. S.06.01 The genetics of ADHD across the lifespan: tales and reality of common and rare genetic variants European Neuropsychopharmacology. 24: S116-S117. DOI: 10.1016/S0924-977X(14)70138-5 |
0.688 |
|
2014 |
Ramos-Quiroga JA, Sánchez-Mora C, Casas M, Garcia-Martínez I, Bosch R, Nogueira M, Corrales M, Palomar G, Vidal R, Coll-Tané M, Bayés M, Sunyer J, Bustamante M, Cormand B, Ribasés M. Corrigendum to 'Genome-wide copy number variation analysis in adult Attention-Deficit and Hyperactivity Disorder' [J Psychiatr Res 49, (2014) 60-67] Journal of Psychiatric Research. 52: 70. DOI: 10.1016/J.Jpsychires.2014.01.008 |
0.75 |
|
2013 |
Carreño O, Corominas R, Serra SA, Sintas C, Fernández-Castillo N, Vila-Pueyo M, Toma C, Gené GG, Pons R, Llaneza M, Sobrido MJ, Grinberg D, Valverde MÁ, Fernández-Fernández JM, Macaya A, ... Cormand B, et al. Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies. Molecular Genetics & Genomic Medicine. 1: 206-22. PMID 24498617 DOI: 10.1186/1129-2377-14-S1-P26 |
0.82 |
|
2013 |
Tristán-Noguero A, Fernàndez-Castillo N, Roncero C, Sánchez-Mora C, Ramos-Quiroga JA, Daigre C, Egido A, Alvarós J, Prat G, Casas M, Cormand B, Ribasés M. Lack of association between the LPR and VNTR polymorphisms of the serotonin transporter gene and cocaine dependence in a Spanish sample. Psychiatry Research. 210: 1287-9. PMID 24120036 DOI: 10.1016/J.Psychres.2013.09.004 |
0.336 |
|
2013 |
Camacho-Garcia RJ, Hervás A, Toma C, Balmaña N, Cormand B, Martinez-Mir A, Scholl FG. Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses. Psychiatric Genetics. 23: 262-6. PMID 24064682 DOI: 10.1097/Ypg.0000000000000013 |
0.73 |
|
2013 |
Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, ... ... Cormand B, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45: 984-94. PMID 23933821 DOI: 10.1038/Ng.2711 |
0.363 |
|
2013 |
Sánchez-Mora C, Ramos-Quiroga JA, Garcia-Martínez I, Fernàndez-Castillo N, Bosch R, Richarte V, Palomar G, Nogueira M, Corrales M, Daigre C, Martínez-Luna N, Grau-Lopez L, Toma C, Cormand B, Roncero C, et al. Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs). European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology. 23: 1463-73. PMID 23906647 DOI: 10.1016/J.Euroneuro.2013.07.002 |
0.682 |
|
2013 |
Urbizu A, Toma C, Poca MA, Sahuquillo J, Cuenca-León E, Cormand B, Macaya A. Chiari malformation type I: a case-control association study of 58 developmental genes. Plos One. 8: e57241. PMID 23437350 DOI: 10.1371/Journal.Pone.0057241 |
0.828 |
|
2013 |
Jacobsen KK, Halmøy A, Sánchez-Mora C, Ramos-Quiroga JA, Cormand B, Haavik J, Johansson S. DISC1 in adult ADHD patients: an association study in two European samples. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 162: 227-34. PMID 23389941 DOI: 10.1002/Ajmg.B.32136 |
0.395 |
|
2013 |
Toma C, Hervás A, Torrico B, Balmaña N, Salgado M, Maristany M, Vilella E, Martínez-Leal R, Planelles MI, Cuscó I, del Campo M, Pérez-Jurado LA, Caballero-Andaluz R, de Diego-Otero Y, Pérez-Costillas L, ... ... Cormand B, et al. Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2. Psychiatric Genetics. 23: 82-5. PMID 23277129 DOI: 10.1097/Ypg.0B013E32835D6Fc6 |
0.817 |
|
2013 |
Egaña-Gorroño L, MartÃnez E, Cormand B, Escribà T, Gatell J, Arnedo M. Impact of genetic factors on dyslipidemia in HIV-infected patients starting antiretroviral therapy. Aids (London, England). 27: 529-38. PMID 23262498 DOI: 10.1097/Qad.0B013E32835D0Da1 |
0.338 |
|
2013 |
Fernàndez-Castillo N, Roncero C, Grau-Lopez L, Barral C, Prat G, Rodriguez-Cintas L, Sánchez-Mora C, Gratacòs M, Ramos-Quiroga JA, Casas M, Ribasés M, Cormand B. Association study of 37 genes related to serotonin and dopamine neurotransmission and neurotrophic factors in cocaine dependence. Genes, Brain, and Behavior. 12: 39-46. PMID 23241418 DOI: 10.1111/Gbb.12013 |
0.319 |
|
2013 |
Sánchez-Mora C, Cormand B, Ramos-Quiroga JA, Hervás A, Bosch R, Palomar G, Nogueira M, Gómez-Barros N, Richarte V, Corrales M, Garcia-Martinez I, Corominas R, Guijarro S, Bigorra A, Bayés M, et al. Evaluation of common variants in 16 genes involved in the regulation of neurotransmitter release in ADHD. European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology. 23: 426-35. PMID 22939005 DOI: 10.1016/J.Euroneuro.2012.07.014 |
0.812 |
|
2013 |
Toma C, Hervás A, Balmaña N, Salgado M, Maristany M, Vilella E, Aguilera F, Orejuela C, Cuscó I, Gallastegui F, Pérez-Jurado LA, Caballero-Andaluz R, Diego-Otero Yd, Guzmán-Alvarez G, Ramos-Quiroga JA, ... ... Cormand B, et al. Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC. The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry. 14: 516-27. PMID 22397633 DOI: 10.3109/15622975.2011.602719 |
0.823 |
|
2013 |
De Vries BL, Freilinger T, Anttila V, Malik R, Terwindt G, Pozo-Rosich P, Winsvold B, Nyholt D, van Oosterhout W, Artto V, Todt M, Hämäläinen E, Fernandez-Moralez J, Louter M, Kaunisto M, ... ... Cormand B, et al. Migraine without aura: genome-wide association analysis identifies several novel susceptibility The Journal of Headache and Pain. 14. DOI: 10.1186/1129-2377-14-S1-P18 |
0.802 |
|
2012 |
Rodríguez-Pascau L, Toma C, Macías-Vidal J, Cozar M, Cormand B, Lykopoulou L, Coll MJ, Grinberg D, Vilageliu L. Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients. Molecular Genetics and Metabolism. 107: 716-20. PMID 23142039 DOI: 10.1016/J.Ymgme.2012.10.004 |
0.832 |
|
2012 |
Sintas C, Carreño O, Fernández-Morales J, Cacheiro P, Sobrido MJ, Narberhaus B, Pozo-Rosich P, Macaya A, Cormand B. A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample. Cephalalgia : An International Journal of Headache. 32: 1076-80. PMID 22908361 DOI: 10.1177/0333102412457090 |
0.806 |
|
2012 |
Freilinger T, Anttila V, de Vries B, Malik R, Kallela M, Terwindt GM, Pozo-Rosich P, Winsvold B, Nyholt DR, van Oosterhout WP, Artto V, Todt U, Hämäläinen E, Fernández-Morales J, Louter MA, ... ... Cormand B, et al. Genome-wide association analysis identifies susceptibility loci for migraine without aura. Nature Genetics. 44: 777-82. PMID 22683712 DOI: 10.1038/Ng.2307 |
0.797 |
|
2012 |
Ribasés M, Sánchez-Mora C, Ramos-Quiroga JA, Bosch R, Gómez N, Nogueira M, Corrales M, Palomar G, Jacob CP, Gross-Lesch S, Kreiker S, Reif A, Lesch KP, Cormand B, Casas M, et al. An association study of sequence variants in the forkhead box P2 (FOXP2) gene and adulthood attention-deficit/hyperactivity disorder in two European samples. Psychiatric Genetics. 22: 155-60. PMID 22504457 DOI: 10.1097/Ypg.0B013E328353957E |
0.393 |
|
2012 |
Ribasés M, Ramos-Quiroga JA, Hervás A, Sánchez-Mora C, Bosch R, Bielsa A, Gastaminza X, Lesch KP, Reif A, Renner TJ, Romanos M, Warnke A, Walitza S, Freitag C, Meyer J, ... ... Cormand B, et al. Candidate system analysis in ADHD: evaluation of nine genes involved in dopaminergic neurotransmission identifies association with DRD1. The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry. 13: 281-92. PMID 22404661 DOI: 10.3109/15622975.2011.584905 |
0.369 |
|
2012 |
Carreño O, Corominas R, Fernández-Morales J, Camiña M, Sobrido MJ, Fernández-Fernández JM, Pozo-Rosich P, Cormand B, Macaya A. SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 159: 94-103. PMID 22162417 DOI: 10.1002/Ajmg.B.32007 |
0.81 |
|
2012 |
Franke B, Faraone SV, Asherson P, Buitelaar J, Bau CH, Ramos-Quiroga JA, Mick E, Grevet EH, Johansson S, Haavik J, Lesch KP, Cormand B, Reif A. The genetics of attention deficit/hyperactivity disorder in adults, a review. Molecular Psychiatry. 17: 960-87. PMID 22105624 DOI: 10.1038/Mp.2011.138 |
0.46 |
|
2012 |
Fernàndez-Castillo N, Orejarena MJ, Ribasés M, Blanco E, Casas M, Robledo P, Maldonado R, Cormand B. Active and passive MDMA ('ecstasy') intake induces differential transcriptional changes in the mouse brain. Genes, Brain, and Behavior. 11: 38-51. PMID 21951708 DOI: 10.1111/J.1601-183X.2011.00735.X |
0.301 |
|
2012 |
Fernàndez-Castillo N, Cormand B, Roncero C, Sánchez-Mora C, Grau-Lopez L, Gonzalvo B, Miquel L, Corominas R, Ramos-Quiroga JA, Casas M, Ribasés M. Candidate pathway association study in cocaine dependence: the control of neurotransmitter release. The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry. 13: 126-34. PMID 21426264 DOI: 10.3109/15622975.2010.551406 |
0.793 |
|
2011 |
Carreño O, García-Silva MT, García-Campos Ó, Martínez-de Aragón A, Cormand B, Macaya A. Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation. Headache. 51: 1542-6. PMID 22082423 DOI: 10.1111/J.1526-4610.2011.02014.X |
0.812 |
|
2011 |
Reif A, Nguyen TT, Weissflog L, Jacob CP, Romanos M, Renner TJ, Buttenschon HN, Kittel-Schneider S, Gessner A, Weber H, Neuner M, Gross-Lesch S, Zamzow K, Kreiker S, Walitza S, ... ... Cormand B, et al. DIRAS2 is associated with adult ADHD, related traits, and co-morbid disorders. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. 36: 2318-27. PMID 21750579 DOI: 10.1038/Npp.2011.120 |
0.427 |
|
2011 |
Sánchez-Mora C, Ribasés M, Casas M, Bayés M, Bosch R, Fernà ndez-Castillo N, Brunso L, Jacobsen KK, Landaas ET, Lundervold AJ, Gross-Lesch S, Kreiker S, Jacob CP, Lesch KP, Buitelaar JK, ... ... Cormand B, et al. Exploring DRD4 and its interaction with SLC6A3 as possible risk factors for adult ADHD: a meta-analysis in four European populations. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 156: 600-12. PMID 21595008 DOI: 10.1002/Ajmg.B.31202 |
0.402 |
|
2011 |
Pérez-Dueñas B, Ormazábal A, Toma C, Torrico B, Cormand B, Serrano M, Sierra C, De Grandis E, Marfa MP, García-Cazorla A, Campistol J, Pascual JM, Artuch R. Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects. Archives of Neurology. 68: 615-21. PMID 21555636 DOI: 10.1001/Archneurol.2011.80 |
0.795 |
|
2011 |
Ormazabal A, Serrano M, Garcia-Cazorla A, Campistol J, Artuch R, Castro de Castro P, Barredo-Valderrama E, Armstrong J, Toma C, Cormand B. Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. Movement Disorders : Official Journal of the Movement Disorder Society. 26: 1558-60. PMID 21465550 DOI: 10.1002/Mds.23564 |
0.708 |
|
2011 |
Ribasés M, Ramos-Quiroga JA, Sánchez-Mora C, Bosch R, Richarte V, Palomar G, Gastaminza X, Bielsa A, Arcos-Burgos M, Muenke M, Castellanos FX, Cormand B, Bayés M, Casas M. Contribution of LPHN3 to the genetic susceptibility to ADHD in adulthood: a replication study. Genes, Brain, and Behavior. 10: 149-57. PMID 21040458 DOI: 10.1111/J.1601-183X.2010.00649.X |
0.399 |
|
2011 |
Toma C, Hervás A, Balmaña N, Vilella E, Aguilera F, Cuscó I, del Campo M, Caballero R, De Diego-Otero Y, Ribasés M, Cormand B, Bayés M. Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism. Journal of Psychiatric Research. 45: 280-2. PMID 20888579 DOI: 10.1016/J.Jpsychires.2010.09.001 |
0.79 |
|
2011 |
Weissflog L, Nguyen TT, Romanos M, Renner T, Freitag C, Cormand B, Haavik J, Franke B, Reif A, Lesch KP. P.1.004 Association of GTP-binding protein Di-Ras2 (DIRAS2) with attention-deficit/hyperactivity disorder European Neuropsychopharmacology. 21. DOI: 10.1016/S0924-977X(11)70005-0 |
0.33 |
|
2010 |
Pérez-Dueñas B, Toma C, Ormazábal A, Muchart J, Sanmartí F, Bombau G, Serrano M, García-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene. Journal of Inherited Metabolic Disease. 33: 795-802. PMID 20857335 DOI: 10.1007/S10545-010-9196-1 |
0.729 |
|
2010 |
De Grandis E, Serrano M, Pérez-Dueñas B, Ormazábal A, Montero R, Veneselli E, Pineda M, González V, Sanmartí F, Fons C, Sans A, Cormand B, Puelles L, Alonso A, Campistol J, et al. Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders. Journal of Inherited Metabolic Disease. 33: 803-9. PMID 20852934 DOI: 10.1007/S10545-010-9200-9 |
0.389 |
|
2010 |
Fernàndez-Castillo N, Ribasés M, Roncero C, Casas M, Gonzalvo B, Cormand B. Association study between the DAT1, DBH and DRD2 genes and cocaine dependence in a Spanish sample. Psychiatric Genetics. 20: 317-20. PMID 20505554 DOI: 10.1097/Ypg.0B013E32833B6320 |
0.388 |
|
2010 |
Johansson S, Halmøy A, Mavroconstanti T, Jacobsen KK, Landaas ET, Reif A, Jacob C, Boreatti-Hümmer A, Kreiker S, Lesch KP, Kan CC, Kooij JJ, Kiemeney LA, Buitelaar JK, Franke B, ... ... Cormand B, et al. Common variants in the TPH1 and TPH2 regions are not associated with persistent ADHD in a combined sample of 1,636 adult cases and 1,923 controls from four European populations. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 1008-15. PMID 20213726 DOI: 10.1002/Ajmg.B.31067 |
0.425 |
|
2010 |
Pons R, Serrano M, Ormazabal A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B, Artuch R. Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. Movement Disorders : Official Journal of the Movement Disorder Society. 25: 1086-90. PMID 20198643 DOI: 10.1002/Mds.23002 |
0.711 |
|
2010 |
Landaas ET, Johansson S, Jacobsen KK, Ribasés M, Bosch R, Sánchez-Mora C, Jacob CP, Boreatti-Hümmer A, Kreiker S, Lesch KP, Kiemeney LA, Kooij JJ, Kan C, Buitelaar JK, Faraone SV, ... ... Cormand B, et al. An international multicenter association study of the serotonin transporter gene in persistent ADHD. Genes, Brain, and Behavior. 9: 449-58. PMID 20113357 DOI: 10.1111/J.1601-183X.2010.00567.X |
0.391 |
|
2010 |
Serra SA, Cuenca-León E, Llobet A, Rubio-Moscardo F, Plata C, Carreño O, Fernà ndez-Castillo N, Corominas R, Valverde MA, Macaya A, Cormand B, Fernández-Fernández JM. A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis. Proceedings of the National Academy of Sciences of the United States of America. 107: 1672-7. PMID 20080591 DOI: 10.1073/Pnas.0908359107 |
0.796 |
|
2010 |
Franke B, Vasquez AA, Johansson S, Hoogman M, Romanos J, Boreatti-Hümmer A, Heine M, Jacob CP, Lesch KP, Casas M, Ribasés M, Bosch R, Sánchez-Mora C, Gómez-Barros N, Fernà ndez-Castillo N, ... ... Cormand B, et al. Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. 35: 656-64. PMID 19890261 DOI: 10.1038/Npp.2009.170 |
0.384 |
|
2010 |
Sánchez-Mora C, Ribasés M, Ramos-Quiroga JA, Casas M, Bosch R, Boreatti-Hümmer A, Heine M, Jacob CP, Lesch KP, Fasmer OB, Knappskog PM, Kooij JJ, Kan C, Buitelaar JK, Mick E, ... ... Cormand B, et al. Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 512-23. PMID 19603419 DOI: 10.1002/Ajmg.B.31008 |
0.413 |
|
2010 |
Corominas R, Sobrido MJ, Ribasés M, Cuenca-León E, Blanco-Arias P, Narberhaus B, Roig M, Leira R, López-González J, Macaya A, Cormand B. Association study of the serotoninergic system in migraine in the Spanish population. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 177-84. PMID 19455600 DOI: 10.1002/Ajmg.B.30972 |
0.825 |
|
2009 |
Corominas R, Ribases M, Camiña M, Cuenca-León E, Pardo J, Boronat S, Sobrido MJ, Cormand B, Macaya A. Two-stage case-control association study of dopamine-related genes and migraine. Bmc Medical Genetics. 10: 95. PMID 19772578 DOI: 10.1186/1471-2350-10-95 |
0.81 |
|
2009 |
Ribasés M, Bosch R, Hervás A, Ramos-Quiroga JA, Sánchez-Mora C, Bielsa A, Gastaminza X, Guijarro-Domingo S, Nogueira M, Gómez-Barros N, Kreiker S, Gross-Lesch S, Jacob CP, Lesch KP, Reif A, ... ... Cormand B, et al. Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder. Biological Psychiatry. 66: 926-34. PMID 19733838 DOI: 10.1016/J.Biopsych.2009.06.024 |
0.703 |
|
2009 |
Ponsa I, Ramos-Quiroga JA, Ribasés M, Bosch R, Bielsa A, Ordeig MT, Morell M, Miró R, de Cid R, Estivill X, Casas M, Bayés M, Cormand B, Hervás A. Absence of cytogenetic effects in children and adults with attention-deficit/hyperactivity disorder treated with methylphenidate. Mutation Research. 666: 44-9. PMID 19457516 DOI: 10.1016/J.Mrfmmm.2009.03.014 |
0.652 |
|
2009 |
Corominas R, Ribasés M, Cuenca-León E, Narberhaus B, Serra SA, del Toro M, Roig M, Fernández-Fernández JM, Macaya A, Cormand B. Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population. Neuroscience Letters. 455: 105-9. PMID 19368856 DOI: 10.1016/J.Neulet.2009.03.011 |
0.82 |
|
2009 |
Cuenca-León E, Banchs I, Serra SA, Latorre P, Fernàndez-Castillo N, Corominas R, Valverde MA, Volpini V, Fernández-Fernández JM, Macaya A, Cormand B. Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene. Journal of the Neurological Sciences. 280: 10-4. PMID 19232643 DOI: 10.1016/J.Jns.2009.01.005 |
0.825 |
|
2009 |
Serra SA, Fernàndez-Castillo N, Macaya A, Cormand B, Valverde MA, Fernández-Fernández JM. The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition. PflüGers Archiv : European Journal of Physiology. 458: 489-502. PMID 19189122 DOI: 10.1007/S00424-009-0637-3 |
0.309 |
|
2009 |
Corominas R, Ribasés M, Cuenca-León E, Cormand B, Macaya A. Lack of association of hormone receptor polymorphisms with migraine. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 16: 413-5. PMID 19175383 DOI: 10.1111/J.1468-1331.2008.02499.X |
0.801 |
|
2009 |
Cuenca-León E, Corominas R, Montfort M, Artigas J, Roig M, Bayés M, Cormand B, Macaya A. Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred. Neurogenetics. 10: 191-8. PMID 19153782 DOI: 10.1007/S10048-008-0169-6 |
0.817 |
|
2009 |
Ribasés M, Ramos-Quiroga JA, Hervás A, Bosch R, Bielsa A, Gastaminza X, Artigas J, Rodriguez-Ben S, Estivill X, Casas M, Cormand B, Bayés M. Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB. Molecular Psychiatry. 14: 71-85. PMID 17938636 DOI: 10.1038/Sj.Mp.4002100 |
0.422 |
|
2009 |
Cormand B, Ribasés M, Ramos-Quiroga J, Sánchez-Mora C, Casas M, Johansson S, Haavik J, Reif A, Franke B, Bayés M. S.06.04 The dopamine system in adult ADHD – findings from the IMpACT study European Neuropsychopharmacology. 19: S186. DOI: 10.1016/S0924-977X(09)70219-6 |
0.637 |
|
2008 |
Narberhaus B, Cormand B, Cuenca-León E, Ribasés M, Monells J. [Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene]. Neurología (Barcelona, Spain). 23: 427-35. PMID 18726720 |
0.355 |
|
2008 |
Cuenca-León E, Corominas R, Fernàndez-Castillo N, Volpini V, Del Toro M, Roig M, Macaya A, Cormand B. Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes. Cephalalgia : An International Journal of Headache. 28: 1039-47. PMID 18644040 DOI: 10.1111/J.1468-2982.2008.01645.X |
0.831 |
|
2008 |
Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Molecular Genetics and Metabolism. 94: 305-12. PMID 18406185 DOI: 10.1016/J.Ymgme.2008.02.012 |
0.803 |
|
2008 |
Ribasés M, Hervás A, Ramos-Quiroga JA, Bosch R, Bielsa A, Gastaminza X, Fernández-Anguiano M, Nogueira M, Gómez-Barros N, Valero S, Gratacòs M, Estivill X, Casas M, Cormand B, Bayés M. Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child attention-deficit/hyperactivity disorder. Biological Psychiatry. 63: 935-45. PMID 18179783 DOI: 10.1016/J.Biopsych.2007.11.004 |
0.708 |
|
2007 |
Ribasés M, Serrano M, Fernández-Alvarez E, Pahisa S, Ormazabal A, García-Cazorla A, Pérez-Dueñas B, Campistol J, Artuch R, Cormand B. A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. Molecular Genetics and Metabolism. 92: 274-7. PMID 17698383 DOI: 10.1016/J.Ymgme.2007.07.004 |
0.443 |
|
2007 |
Garrido E, Chabás A, Coll MJ, Blanco M, Domínguez C, Grinberg D, Vilageliu L, Cormand B. Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Molecular Genetics and Metabolism. 92: 122-30. PMID 17643332 DOI: 10.1016/J.Ymgme.2007.06.002 |
0.809 |
|
2006 |
Guzmán B, Cormand B, Ribasés M, González-Núñez D, Botey A, Poch E. Implication of chromosome 18 in hypertension by sibling pair and association analyses: putative involvement of the RKHD2 gene. Hypertension. 48: 883-91. PMID 17015768 DOI: 10.1161/01.Hyp.0000244085.52918.A0 |
0.402 |
|
2005 |
Macaya A, Brunso L, Fernández-Castillo N, Arranz JA, Ginjaar HB, Cuenca-León E, Corominas R, Roig M, Cormand B. Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. Neuropediatrics. 36: 389-94. PMID 16429380 DOI: 10.1055/S-2005-872877 |
0.832 |
|
2005 |
Diaz-Font A, Cormand B, Santamaria R, Vilageliu L, Grinberg D, Chabás A. A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. Human Genetics. 117: 275-7. PMID 15856305 DOI: 10.1007/S00439-005-1288-X |
0.819 |
|
2005 |
Bayés M, Ramos JA, Cormand B, Hervas-Zúñiga A, del Campo M, Duran-Tauleria E, Ribasés M, Vilella-Cuadrada E, de Diego-Otero Y, Casas-Brugué M, Estivill X. [Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder]. Revista De Neurologia. 40: S187-90. PMID 15736086 |
0.352 |
|
2004 |
Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. Journal of Medical Genetics. 41: e115. PMID 15466003 DOI: 10.1136/Jmg.2004.020701 |
0.374 |
|
2003 |
de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG. A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. Journal of Medical Genetics. 40: 845-8. PMID 14627679 DOI: 10.1136/Jmg.40.11.845 |
0.336 |
|
2003 |
Diaz-Font A, Cormand B, Chabás A, Vilageliu L, Grinberg D. Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease. Blood Cells, Molecules & Diseases. 31: 183-6. PMID 12972023 DOI: 10.1016/S1079-9796(03)00157-8 |
0.811 |
|
2003 |
Savander M, Ropponen A, Avela K, Weerasekera N, Cormand B, Hirvioja ML, Riikonen S, Ylikorkala O, Lehesjoki AE, Williamson C, Aittomäki K. Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy. Gut. 52: 1025-9. PMID 12801961 DOI: 10.1136/Jmg.40.8.640 |
0.325 |
|
2003 |
Díaz-Font A, Cormand B, Blanco M, Chamoles N, Chabás A, Grinberg D, Vilageliu L. Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients. Human Genetics. 112: 426-9. PMID 12589426 DOI: 10.1007/S00439-002-0894-0 |
0.826 |
|
2002 |
Cuenca-Leon E, Cormand B, Thomson T, Macaya A. Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree. Neuropediatrics. 33: 288-93. PMID 12571782 DOI: 10.1055/S-2002-37079 |
0.687 |
|
2002 |
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. American Journal of Human Genetics. 71: 1033-43. PMID 12369018 DOI: 10.1086/342975 |
0.46 |
|
2002 |
Arranz JA, Piñol F, Kozak L, Pérez-Cerdá C, Cormand B, Ugarte M, Riudor E. Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients. Human Mutation. 20: 180-8. PMID 12203990 DOI: 10.1002/Humu.10084 |
0.414 |
|
2001 |
Cormand B, Pihko H, Bayés M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 56: 1059-69. PMID 11320179 DOI: 10.1212/Wnl.56.8.1059 |
0.355 |
|
2001 |
Kaksonen R, Widen E, Cormand B, Toppila E, Starck J, Pyykkö I, Kere J. Autosomal dominant midfrequency hearing impairment. Scandinavian Audiology. Supplementum. 85-7. PMID 11318494 DOI: 10.1080/010503901300007164 |
0.333 |
|
2000 |
Cormand B, Díaz A, Grinberg D, Chabás A, Vilageliu L. A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease. Blood Cells, Molecules & Diseases. 26: 409-16. PMID 11112377 DOI: 10.1006/Bcmd.2000.0317 |
0.836 |
|
2000 |
Thomson TM, Lozano JJ, Loukili N, Carrió R, Serras F, Cormand B, Valeri M, Díaz VM, Abril J, Burset M, Merino J, Macaya A, Corominas M, Guigó R. Fusion of the human gene for the polyubiquitination coeffector UEV1 with Kua, a newly identified gene. Genome Research. 10: 1743-56. PMID 11076860 DOI: 10.1101/Gr.Gr-1405R |
0.644 |
|
2000 |
Talim B, Ferreiro A, Cormand B, Vignier N, Oto A, Gö?ü? S, Cila A, Lehesjoki AE, Pihko H, Guicheney P, Topalo?lu H. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. Neuromuscular Disorders : Nmd. 10: 548-52. PMID 11053680 DOI: 10.1016/S0960-8966(00)00140-1 |
0.56 |
|
2000 |
Sankila EM, Joensuu TH, Hämäläinen RH, Raitanen N, Valle O, Ignatius J, Cormand B. A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy. Human Mutation. 16: 94. PMID 10874321 DOI: 10.1002/1098-1004(200007)16:1<94::Aid-Humu25>3.0.Co;2-T |
0.317 |
|
2000 |
Díaz A, Montfort M, Cormand B, Zeng B, Pastores GM, Chabás A, Vilageliu L, Grinberg D. On the age of the most prevalent Gaucher disease-causing mutation, N370S. American Journal of Human Genetics. 66: 2014-5. PMID 10801390 DOI: 10.1086/302935 |
0.807 |
|
1999 |
Díaz A, Montfort M, Cormand B, Zeng B, Pastores GM, Chabás A, Vilageliu L, Grinberg D. Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago. American Journal of Human Genetics. 64: 1233-8. PMID 10090913 DOI: 10.1086/302341 |
0.785 |
|
1999 |
Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, de la Chapelle A, Lehesjoki AE. Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. American Journal of Human Genetics. 64: 126-35. PMID 9915951 DOI: 10.1086/302206 |
0.628 |
|
1999 |
Cormand B, Pihko H, Dobyns W, Valanne L, Topaloglu H, Voit T, Santavuori P, Lehesjoki A. 146 Muscle-eye-brain disease and classical Walker-Warburg syndrome are two distinct disorders: A molecular genetic and clinical study European Journal of Paediatric Neurology. 3: A111. DOI: 10.1016/S1090-3798(99)91281-3 |
0.326 |
|
1998 |
Cormand B, Harboe TL, Gort L, Campoy C, Blanco M, Chamoles N, Chabás A, Vilageliu L, Grinberg D. Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation. American Journal of Medical Genetics. 80: 343-51. PMID 9856561 DOI: 10.1002/(Sici)1096-8628(19981204)80:4<343::Aid-Ajmg8>3.0.Co;2-W |
0.835 |
|
1998 |
Cormand B, Montfort M, Chabás A, Grinberg D, Vilageliu LL. Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease. Prenatal Diagnosis. 18: 207-12. PMID 9556036 DOI: 10.1002/(SICI)1097-0223(199803)18:3<207::AID-PD243>3.0.CO;2-W |
0.761 |
|
1998 |
Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome. Human Mutation. 11: 295-305. PMID 9554746 DOI: 10.1002/(Sici)1098-1004(1998)11:4<295::Aid-Humu7>3.0.Co;2-6 |
0.825 |
|
1997 |
Cormand B, Montfort M, Chabás A, Vilageliu L, Grinberg D. Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease. Human Genetics. 100: 75-9. PMID 9225972 DOI: 10.1007/S004390050468 |
0.815 |
|
1997 |
Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabás A. Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses. American Journal of Medical Genetics. 70: 437-43. PMID 9182788 DOI: 10.1002/(Sici)1096-8628(19970627)70:4<437::Aid-Ajmg19>3.0.Co;2-I |
0.824 |
|
1996 |
Chabás A, Cormand B, Balcells S, González-Duarte R, Casanova C, Colomer J, Vilageliu L, Grinberg D. Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain. Journal of Inherited Metabolic Disease. 19: 798-800. PMID 8982958 DOI: 10.1007/Bf01799179 |
0.816 |
|
1996 |
Cormand B, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Chabás A, Grinberg D. Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients. Human Mutation. 7: 272-4. PMID 8829663 DOI: 10.1002/(Sici)1098-1004(1996)7:3<272::Aid-Humu14>3.0.Co;2-# |
0.814 |
|
1995 |
Chabás A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzàlez-Duarte R, Vilageliu L. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. Journal of Medical Genetics. 32: 740-2. PMID 8544197 DOI: 10.1136/Jmg.32.9.740 |
0.799 |
|
1995 |
Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabás A. Gaucher disease in Spanish patients: analysis of eight mutations. Human Mutation. 5: 303-9. PMID 7627184 DOI: 10.1002/Humu.1380050406 |
0.821 |
|
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