Registration number: 05110 Date of fulfillment: 06/03/2013
Surname: CORMAND Name: BRU D.N.I: 40982254A Date of birth: 19/07/1969 Gender: Male
Professional status
Organization: University of Barcelona Faculty, School or Institute: Faculty of Biology Dept./Sect./Str. Unit: Genetics Postal address: Av. Diagonal 643, edifici Prevosti, 2ª planta, 08028 Barcelon a, Spain
Phone number (Add number and extension): +34 93 4021013 Fax: +34 93 4034420 E-mail: [email protected], [email protected]
Specialization (UNESCO codes): Genetics (2407.02, 2410.07 i 3201.02) / Clinical Genetics (2409) / Human Genetics Professional category and starting date: Associate Professor of Genetics - 17/11/2001
Administrative status Staff X Contracted - Temporary - Scholarship holder - Other situation - specify Dedication Full time X Part time -
ACADEMIC TRAINING
Bachelors Degree Center Date Biological Sciences Universitat de Barcelona 08/07/1992 Certificate of Teaching Aptitudes Universitat Politècnica de Catalunya 08/05/1995
Doctorate Center Date Biological Sciences Universitat de Barcelona 17/01/1997
PREVIOUS SCIENTIFIC AND/OR TEACHING ACTIVITIES
Activity Center/Institution Dates Assistant Professor Universitat de Barcelona 15/10/1992 - 31/12/1992 PhD student Universitat de Barcelona 01/01/1993 - 31/12/1996 Postdoctoral fellow University of Helsinki (Finland) 15/02/1997 - 31/10/1999 Postdoctoral fellow Hospital Vall d'Hebron, Barcelona 01/11/1999 - 31/03/2000 Postodctoral fellow Universitat de Barcelona 01/04/2000 - 18/02/2001 F.I.S. contract Universitat Pompeu Fabra-Hospital del Mar 19/02/2001 - 16/11/2001 Associate Professor Universitat de Barcelona 17/11/2001 -
Languages of scientific interest (Regular, Sufficient, Well)
Language Speak Read Write Catalan Well Well Well Spanish Well Well Well English Well Well Well
Research topics
Short description, using keywords, about your main subject and current research topics
Line: Regulation of the gene for the human ATP sintase Center: Universitat de Barcelona Dates: 01/08/1992 - 31/12/1992 Keywords: Gene regulation / Genetics / Transcription
Line: Molecular and Genetic Analysis of Gaucher disease Center: Universitat de Barcelona Dates: 01/01/1993 - 31/12/1996 Keywords: Human Genetics / Medical Genetics / Linkage analysis / Mutation analysis
Line: Identification of genes involved in neuronal migration disorders: Muscle-eye-brain (MEB), Walker-Warburg Syndrome (WWS) Center: University of Helsinki Dates: 15/02/1997 - 31/10/1999 Keywords: Human Genetics / Genetics / Medical Genetics / Linkage analysis
Line: Mapping and identification of genes responsible for mendelian disorders: ataxia, cone-rod dystrophy (CRD), Congenital Muscle Dystrophy with Mental Retardation (CMD-MR), Intrahepatic Coleostasis of Pregnancy (ICP) Center: University of Helsinki Dates: 15/02/1997 - 31/10/1999 Keywords: Human Genetics / Medical Genetics / Mutation analysis / Linkage analysis
Line: Genetic and functional analyses of episodic neurological disorders: migraine and ataxia. Center: Universitat de Barcelona - Hospital Materno-Infantil Vall d'Hebron – Universitat Pompeu Fabra. Dates: 01/11/1999 -present Keywords: Human Genetics / Medical Genetics / Mutation analysis / Linkage analysis
Line: Gene fusión and evolution: Role of UEV and Kua genes in poliubiquitination Center: Hospital Materno-Infantil Vall d'Hebron Dates: 01/11/1999 - 31/03/2000 Keywords: Genetics / Gene evolution
Line: Novel approaches for gene therapy in Gaucher disease: chimeraplasty Center: Universitat de Barcelona Dates: 01/04/2000 - 31/12/2002 Keywords: Medical genetics / Gene therapy
Line: Genetic basis of the susceptibility to ADHD Center: Universitat de Barcelona - Hospital Materno-Infantil Vall d'Hebron-Hospital Mútua de Terrassa Dates: 01/01/2004 -present Keywords: Genetics/ Medical genetics / Complex disease
Line: Genetic basis of the susceptibility to substance use disorders Center: Universitat de Barcelona - Hospital Materno-Infantil Vall d'Hebron Dates: 01/01/2006 -present Keywords: Genetics/ Medical genetics / Complex disease
Line: Genetic basis of neurotransmission defects Center: Universitat de Barcelona - Hospital Sant Joan de Déu (Barcelona) Dates: 01/01/2006 -present Keywords: Genetics/ Medical genetics / Neurogenetics
Line: Genetic basis of Autism Spectrum Disorders Center: Universitat de Barcelona - Hospital Materno-Infantil Vall d'Hebron Dates: 01/01/2009-present Keywords: Genetics/ Medical genetics / Complex disease
Participation in funded R+D+I projects from public calls (last 5 years: 2007-present)
(National and/or International)
Title of the project / contract: Identification of genes involved in the serotoninergic disfunction in paediatric patients
Kind of contract/Program: Accions CIBER
Financing Firm/administration: Instituto de Salud Carlos III
Number of the project / contract: INTRA/07/720 Amount: 36.000,00 Duration, since: 2007 Until: 2008
Main researcher: Bru Cormand Rifà
Title of the project / contract: CIBERER Infrastructure Programme
Kind of contract/Program: Acciones CIBER
Financing Firm/administration: Instituto de Salud Carlos III
Number of the project / contract: - Amount: 61.696,92 Duration, since: 2007 Until: 2007
Main researcher: Daniel Grinberg Vaisman
Title of the project / contract: CIBERER Infrastructure Programme
Kind of contract/Program: Acciones CIBER
Financing Firm/administration: Instituto de Salud Carlos III
Number of the project / contract: - Amount: 60.000,00 Duration, since: 2008 Until: 2008
Main researcher: Daniel Grinberg Vaisman
Title of the project / contract: Mutation analysis of the folate transporter FOLR1 in brain folate deffect.
Kind of contract/Program: Acciones CIBER
Financing Firm/administration: Instituto de Salud Carlos III
Number of the project / contract: INTRA/09/703.2 Amount: 9.000,00 Duration, since: 2009 Until: 2009
Main researcher: Bru Cormand
Title of the project / contract: Molecular analysis of episodic neurological disorders: Identification of causal genetic variants and functional studies
Kind of contract/Program: Programa Nacional de Biomedicina
Financing Firm/administration: Ministerio de Educación y Ciencia
Number of the project / contract: SAF2006-13893-C02-01/ Amount: 91.000,00 Duration, since: 2006 Until: 2009
Main researcher: Bru Cormand
Title of the project / contract: Cellular, molecular and genetic bases of migraine and episodic ataxia
Kind of contract/Program: Ajuts a projectes de recerca sobre neurociències
Financing Firm/administration: Fundació La Marató de TV3
Number of the project / contract: 061330 Amount: 79.576,00 Duration, since: 2007 Until: 2010
Main researcher: Bru Cormand
Title of the project / contract: Molecular genetics of autism: Association studies, structural variant analysis and mutation screening for the identification of susceptibility genes.
Kind of contract/Program: Ajuts a projectes de recerca sobre malalties mentals
Financing Firm/administration: Fundació La Marató de TV3
Number of the project / contract: 092010 Amount: 143.905,00 Duration, since: 2009 Until: 2012
Main researcher: Claudio Toma
Title of the project / contract: Genes and migraine: Mutation anaysis and association studies in patients and transcriptomics in an animal model.
Kind of contract/Program: Biomedicina (SAF)
Financing Firm/administration: Ministerio de Ciencia e Innovación
Number of the project / contract: SAF2009-13182-C03-01 Amount: 119.000,00 Duration, since: 2010 Until: 2012
Main researcher: Bru Cormand
Title of the project / contract: Novel animal models for the study of the cocaine seeking behavior: Transcriptomic analysis
Kind of contract/Program: Programa Nacional de Biomedicina
Financing Firm/administration: Ministerio de Sanidad y Política Social
Number of the project / contract: 2009/022 Amount: 67.000,00 Duration, since: 2009 Until: 2012
Main researcher: Bru Cormand Rifa
Title of the project / contract: Exome analysis: a pioneering approach to identify etiologic variants in Autism Spectrum Disorder
Financing Firm/administration: Fundación Alicia Koplowitz
Number of the project / contract: --- Amount: 75.000,00 Duration, since: 2010 Until: 2012
Main researcher: Bru Cormand
Title of the project / contract: Human Molecular Genetics
Kind of contract/Program: Promotion of high-quality research groups
Financing Firm/administration: Agència de Gestió d'Ajuts Universitaris i de Recerca. Generalitat de Catalunya. AGAUR
Number of the project / contract: 2009SGR971 Amount: 42.640,00 Duration, since: 2009 Until: 2013
Main researcher: Daniel-Raul Grinberg Vaisman
Title of the project / contract: Human Molecular Genetics
Kind of contract/Program: Promotion of high-quality research groups
Financing Firm/administration: Departament d'Universitats, Recerca i Societat de la Informació (Generalitat de Catalunya) DURSI
Number of the project / contract: 2005SGR00848 Amount: 26.600,00 Duration, since: 2005 Until: 2009
Main researcher: Daniel-Raul Grinberg Vaisman
Title of the project / contract: Rare and Common Genetic Variants analysis in ASDs and ADHD (GEVAD)
Kind of contract/Program: FP7 PEOPLE Programme - Marie Curie Actions.
Financing Firm/administration: European Commission
Number of the project / contract: PIEF-GA-2009-254930 Amount: 137.373,00 Duration, since: 2011 Until: 2012
Main researcher: Bru Cormand
Title of the project / contract: Cross-disorder analysis of psychiatric diseases: Contribution of rare and common genetic variants to autism, ADHD and subastance use disorders.
Kind of contract/Program: Biomedicina (SAF)
Financing Firm/administration: Ministerio de Economia y Competitividad
Number of the project / contract: SAF2012-33484 Amount: 140.000,00 Duration, since: 2013 Until: 2015
Main researcher: Bru Cormand
Publications or Scientific-technical documents
(Journal publications)
1. 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. Am J Med Genet B Neuropsych Genet (in press)
2. Pons R, Syrengelas D, Youroukos S, Orfanou I , Dinopoulos A, Cormand B, Ormazabal A, Serrano M, Artuch R. L-dopa induced dyskinesias in tyrosine hydroxylase deficiency. Mov Dis (in press)
3. 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 (in press)
4. Egaña-Gorroño L, Martínez E, Escribà T, Cormand B, Gatell JM, Arnedo M. Impact of genetic and non-genetic factors on dyslipidemia in HIV-infected patients starting antiretroviral therapy. AIDS 2013; 27:529-38
5. 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. Mol Genet Metab 2012; 107:716-20
6. 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, Kaunisto MA, Schoenen J, Raitakari O, Lehtimäki T, Vila-Pueyo M, Göbel H, Wichmann E, Sintas C, Uitterlinden AG, Hofman A, Rivadeneira F, Heinze A, Tronvik E, van Duijn CM, Kaprio J, Cormand B, Wessman M, Frants RR, Meitinger T, Müller-Myhsok B, Zwart JA, Färkkilä M, Macaya A, Ferrari MD, Kubisch C, Palotie A, Dichgans M, van den Maagdenberg AM; International Headache Genetics Consortium. Nat Genet 2012; 44:777-82
7. 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 2012; 32:1076-80
8. Sánchez-Mora C, Cormand B, Ramos-Quiroga JA, Hervás A, Bosch R, Palomar G, Nogueira M, Gòmez-Barros N, Richarte V, Corrales M, Garcia-Martines I, Corominas R, Guijarro S, Bigorra A, Bayés M, Casas M, Ribasés M. Evaluation of common variants in 16 genes involved in the regulation of neurotransmitter release in ADHD. Eur Neuopsychopharmacology (in press)
9. 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, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B. Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2. Psych Genet (in press)
10. 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, de Diego-Otero Y, Guzmán-Alvarez G, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B. Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC. World J Biol Psychiatry (in press)
11. 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, Bayés M. Association study of sequence variants in the forkhead box P2 (FOXP2) gene and adulthood attention-deficit/hyperactivity disorder (ADHD) in two European samples. Psych Genet 2012; 22:155-60
12. 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 Behav 2012; 11:38-51
13. 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. World J Biol Psychiatry 2012; 13:126-34
14. 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, Seitz C, Meyer J, Palmason H, Casas M, Bayés M, Cormand B. Candidate system analysis in ADHD: Evaluation of 9 genes involved in dopaminergic neurotransmission identifies association with DRD1. World J Biol Psychiatry 2012; 13:281-92
15. Franke B, Faraone SV, Bau C, Grevet E, Ramos-Quiroga JA, Mick E, Johansson S, Haavik J, Buitelaar J, Lesch KP, Cormand B, Asherson P, Reif A. The genetics of Attention deficit/hyperactivity disorder (ADHD) in adults, a review. Mol Psychiatry 2012; 960-87
16. 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. Am J Med Genet B Neuropsychiatr Genet 2012; 159B:94-103
17. Carreño O, García-Silva MT, García-Campos O, Martínez-de Aragón A, Cormand B, Macaya A. Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation. Headache 2011; 51:1542-6
18. Sánchez-Mora C, Ribasés M, Casas M, Bayés M, Bosch R, Fernàndez-Castillo N, Brunso L, Jacobsen KK, Landaas ET, Lundervold AJ, Gross-Lesch S, Kreiker S, Jacob CP, Lesch KP, Buitelaar JK, Hoogman M, Kiemeney LALM, Kooij JJS, Mick E, Asherson P, Faraone SV, Franke B, Reif A, Johansson S, Haavik J, Ramos-Quiroga JA, Cormand B. Exploring DRD4 and its interaction with SLC6A3 as possible risk factors for adult ADHD: A meta-analysis in four European populations. Am J Med Genet B Neuropsychiatr Genet. 2011; 156:600-12
19. 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, Meyer J, Freitag CM, Bosch R, Casas M, Gómez N, Ribasés M, Bayés M, Buitelaar JK, Kiemeney LALM, Kooij S, Kan CC, Hoogman M, Johansson S, Jacobsen KK, Knappskog PM, Fasmer OB, Asherson P, Warnke A, Grabe H-J, Mahler J, Teumer A, Völzke H, Mors ON, Schäfer H, Josep Ramos-Quiroga JA, Cormand B, Haavik J, Franke B, Lesch KP. DIRAS2 is associated with adult ADHD, related traits, and co-morbid disorders. Neuropsychopharmacology 2011;36:2318-27
20. Ormazábal A, Serrano M, de Castro P, Barredo-Valderrama E, Armstrong J, Gacía-Cazorla A, Campistol J, Toma C, Cormand B, Artuch R. Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. Mov Disord 2011; 26:1558-60
21. Pérez-Dueñas B, Ormazábal A, Toma C, Torrico B, Cormand B, Serrano M, Sierra C, De Grandis E, Pineda M, García-Cazorla A, Campistol J, Pascual, Artuch R. Cerebral folate deficiency syndromes in childhood. Arch Neurol. 2011; 68:615-21
22. Toma C, Hervás A, Balmaña N, Vilella E, Aguilera F, Cuscó I, del Campo M, Caballero R, de Diego 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. J Psych Res. 2011; 45:280-282
23. Ribasés M, Ramos-Quiroga JA, Sánchez-Mora C, Bosch R, Richarte V, Álvarez I, Gastaminza X, Bielsa A, Arcos-Burgos M, Muenke M, Castellanos FX, Cormand B, Bayés M, Casas M. Contribution of Latrophilin 3 (LPHN3) to the genetic susceptibility to ADHD in adulthood: a replication study. Genes Brain Behav. 2011; 10:149-157
24. 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, Artuch R, García-Cazorla A. Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders. J Inherit Metab Dis. 2010; 33:803-809
25. 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. J Inherit Metab Dis. 2010; 33:795-802
26. 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. Psychiatr Genet. 2010; 20:317-320
27. Arcos-Burgos M, Jain M, Acosta MT, Shively S, Stanescu H, Wallis D, Domené S, Vélez JI, Karkera JD, Balog J, Berg K, Kleta R, Gahl WA, Roessler E, Long R, Lie J, Pineda D, Londoño AC, Palacio JD, Arbelaez A, Lopera F, Elia J, Hakonarson H, Johansson S, Knappskog PM, Haavik J, Ribases M, Cormand B, Bayes M, Casas M, Ramos-Quiroga JA, Hervas A, Maher BS, Faraone SV, Seitz C, Freitag CM, Palmason H, Meyer J, Romanos M, Walitza S, Hemminger U, Warnke A, Romanos J, Renner T, Jacob C, Lesch KP, Swanson J, Vortmeyer A, Bailey-Wilson JE, Castellanos FX, Muenke M. A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Mol Psychiatry. 2010; 15:1053-1066
28. 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, Halmøy A, Ramos-Quiroga JA, Cormand B, Reif A, Franke B, Mick E, Knappskog PM, Haavik J. An international multicenter association study of the serotonin transporter gene in persistent ADHD. Genes Brain Behav. 2010; 9:449-458
29. Serra SA, Cuenca-León E, Llobet A, Rubio-Moscardo F, Plata C, Carreño O, Fernández-Castillo N, Corominas R, Valverde MA, Macaya A, Cormand B, Fernández-Fernández JM (2010) A mutation in the first intracellular loop of CACNA1A prevents
P/Q channel modulation by SNARE proteins and lowers exocytosis: relevance to migraine phenotype. Proc Natl Acad Sci USA 197:1672-1677
30. Pons R, Serrano M, Ormazabal A, Toma C, García-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B, Artuch R (2010) Tyrosine hydroxylase deficiency in three greek patients with a common ancestral mutation. Mov Disord 25(8):1086-90
31. 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, Johansson S, J Plessen K, Knappskog PM, Haavik J, Estivill X, Casas M, Bayés M, Cormand B (2009) Case-Control Study of Six Genes Asymmetrically Expressed in the Two Cerebral Hemispheres: Association of BAIAP2 with Attention-Deficit/Hyperactivity Disorder. Biol Psychiatry 66:926-934
32. 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, Asherson P, Faraone SV, Franke B, Johansson S, Haavik J, Reif A, Bayés M, Cormand B (2010) Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. Am J Med Genet B Neuropsychiatr Genet 153B:512-523
33. Corominas R, Sobrido MJ, Ribases M, Cuenca-Leon E, Blanco-Arias P, Narberhaus B, Roig M, Leira R, Lopez-Gonzalez J, Macaya A, Cormand B (2010) Association study of the serotoninergic system in migraine in the Spanish population. Am J Med Genet B Neuropsychiatr Genet 153B:177-184
34. Franke B, Arias-Vasquez A, 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, Fernàndez-Castillo N, Bayés M, Halmøy A, Halleland H, Landaas ET, Fasmer OB, Knappskog PM, Heister AJGAM, Kiemeney LA, Kooij JJS, Boonstra AM, Kan CC, Asherson P, Faraone SV, Buitelaar JK, Haavik J, Cormand B, Ramos-Quiroga JA, Reif A (2010) Multi-center analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology 35:656-664
35. Johansson S, Halmøy A, Mavroconstanti T, Jacobsen KK, Landaas ET, Reif A, Jacob C, Boreatti-Hümmer A, Kreiker S, Lesch KP, Kan CC, Kooij JJS, Kiemeney LA, Buitelaar JK, Franke B, Ribasés M, Bosch R, Bayés M, Casas M, Ramos-Quiroga JA, Cormand B, Knappskog P, Haavik J (2010) Common variants in the TPH1 and TPH2 regions are not associated with persistent ADHD in a combined sample of 1636 adult cases and 1923 controls from four European populations. Am J Med Genet B Neuropsychiatr Genet 153B:1008-1015
36. Corominas R, Ribases M, Camina M, Cuenca-Leon E, Pardo J, Boronat S, Sobrido MJ, Cormand B, Macaya A (2009) Two-stage case-control association study of dopamine-related genes and migraine. BMC Med Genet 10:95
37. Corominas R, Ribasés M, Cuenca-León E, Narberhaus B, Serra SA, del Toro M, Roig M, Fernández-Fernández JM, Macaya A, Cormand B (2009) Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population. Neurosci Lett 455:105-109
38. 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 (2009) Absence of cytogenetic effects in children and adults with attention-deficit/hyperactivity disorder treated with methylphenidate. Mutat Res 666:44-49
39. Cuenca-León E, Corominas R, Montfort M, Artigas J, Roig M, Bayés M, Cormand B, Macaya A (2009) Familial Hemiplegic Migraine: Linkage to Chromosome 14q32 in a Spanish Kindred. Neurogenetics 10:191-198
40. 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 (2009) Late-Onset Episodic Ataxia Type 2 associated with a novel missense CACNA1A mutation. J Neurol Sciences 280:10-14
41. Serra SA, Fernàndez-Castillo N, Macaya A, Cormand B, Valverde MA, Fernández-Fernández JM (2009) 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. Pflugers Archiv-Eur J Physiol 458:489-502
42. Corominas R, Ribasés M, Cuenca-León E, Cormand B, Macaya A (2009) Lack of association of hormone receptor polymorphisms with migraine. Eur J Neurol 16:413-415
43. Ribasés M, Ramos-Quiroga JA, Hervás A, Bosch R, Bielsa A, Gastaminza X, Artigas J, Rodríguez-Ben S, Estivill X, Casas M, Cormand B, Bayés M (2009) Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB. Mol Psychiatry 14:71-85
44. Cuenca-Leon E, Corominas R, Fernàndez-Castillo N, Volpini V, del Toro M, Roig M, Macaya A, Cormand B (2008) Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes . Cephalalgia 28:1039-1045
45. 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. Molec Genet Metab. 2008;94:305-312
46. Ribasés M, Hervàs A, Ramos-Quiroga JA, Bosch R, Bielsa A, Gastaminza X, Fernàndez-Anguiano M, Nogueira M, Gómez-Barros N, Valero S, Gratacòs M, Estivill X, Casas M, Cormand B, Bayés M (2008) Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child ADHD. Biol Psychiatry 63:935-945
47. Narberhaus B, Cormand B, Cuenca-León E, Ribasés M, Monells J (2008) Hyperkaliemic periodic paralysis: A Spanish family with the p.Thr704Met mutation in the SCN4A gene. Neurologia 23:427-435
48. Garrido E, Chabàs A, Coll MJ, Blanco M, Domínguez C, Grinberg D, Vilageliu L, Cormand B (2007) Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Molec Genet Metab 92:122-130
49. Ramos-Quiroga JA, Ribasés M, Bosch R, Cormand B, Casas M (2007) Genetic advances in attention-deficit hyperactivity disorder. Rev Neurol 44(Suppl 3):S51-S52
50. Ribasés M, Serrano M, Fernàndez-Àlvarez E, Pahisa S, Ormazabal A, García-Cazorla A, Pérez-Dueñas B, Campistol J, Artuch R, Cormand B (2007) A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. Molec Genet Metab 92:274-277
51. Guzmán B, Cormand B, Ribasés M, González-Núñeza D, Boteya A, Poch E. Implication of Chromosome 18 in Essential Hypertension by Sib-Pair and Association Analyses: Putative Involvement of the RKHD2 Gene. Hypertension. 2006;48:883-91
52. Ormazabal A, Garcia Cazorla A, Perez Duenas B, Pineda M, Ruiz A, Lopez Laso E, Garcia Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernandez Alvarez E, Campistol J, Artuch R. Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier. Med Clin (Barc). 2006;127:81-85
53. 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. 2005;36:389-394
54. Bayes M, Ramos JA, Cormand B, Hervas-Zuniga A, Del Campo M, Duran-Tauleria E, Ribases M, Vilella-Cuadrada E, de Diego-Otero Y, Casas-Brugue M, Estivill X. Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder. Rev Neurol. 2005. 40(Suppl 1):S187-90
55. Díaz-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. Hum Genet. 2005;117:275-277
56. Pascual-Castroviejo I, Pascual-Pascual SI, Gutierrez-Molina M, Saarinen A, Joensuu TH, Bayés M, Cormand B, Muscle-eye-brain disease. Presentation of one case with genetic study. Neurologia. 2005;20:261-266
57. Coll E, Cormand B, González-Núñez D, Campos B, Iñigo P, MD, Botey A, Poch E. Association of TGF-b1 Polymorphisms with Chronic Renal Disease. J Nephrol. 2004;17:794-799
58. DiesenC, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez JL, Valanne L, Joensuu T, Lehesjoki AE. POMGnT1 mutation and phenotypic spectrum in Muscle-Eye-Brain disease. J Med Genet. 2004;41:e115
59. Diaz-Font A, Cormand B, Chabas A, Vilageliu L, Grinberg D. Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease. Blood Cells Mol Dis. 2003;31:183-186
60. de Bernabe 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. J Med Genet. 2003;40:845-848
61. Savander M, Ropponen A, Avela K, Weerasekera N, Cormand B, Hirvioja M-L, Riikonen S, Lehesjoki AE, Ylikorkala O, Williamson C, Dixon P, Aittomäki K. Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy. GUT. 2003;52:1025-1029
62. Díaz-Font A, Cormand B, Chamoles N, Chabás A, Grinberg D, Vilageliu L. Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to mutations and polymorphisms. Analysis of 29 RecNciI alleles from Gaucher disease patients. Hum Genet. 2003;112:426-429
63. Rantamaki M, Krahe R, Paetau A, Cormand B, Mononen I, Udd B. New adult-onset ataxia in a Finnish family. Duodecim. 2002;118:2115-2122
64. Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Mutations in the O-mannosyltransferase gen POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002;71:1033-1043
65. Cuenca-Leon E, Cormand B, Thomson T, Macaya A. Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a spanish pedigree. Neuropediatrics. 2002;33:288-93
66. 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. Hum Mutat. 2002;20:180-188
67. Rantamäki M, Krahe R, Pateau A, Cormand B, Mononen I, Udd B. Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. Neurology. 2001;57:1043-1049
68. Kaksonen R, Widen E, Cormand B, Toppila E, Starck J, Pyykko I, Kere J. Autosomal dominant midfrequency hearing impairment. Scand Audiol. 2001;52:85-87
69. 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. 2001;56:1059-1069
70. 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, Mol Dis. 2000;26:409-416
71. Thomson T, 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 Res. 2000;10:1743-1756
72. Talim B, Ferreriro A, Cormand B, Vignier N, Oto A, Gögüs S, Cila A, Lehesjoki AE, Pihko H, Guicheney P, Topaloglu H. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. Neuromuscul Dis. 2000;10:548-552
73. Sankila EM, Joensuu T, Hamalainen RH, Raitanen N, Valle O, Ignatius J, Cormand B, A CRX Mutation in a Finnish Family with Dominant Cone-Rod Retinal Dystrophy. Hum Mutat. 2000;16:94
74. 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. Am J Hum Genet. 2000;66:2014-2015
75. 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 thousands of years ago. Am J Hum Genet. 1999;64:1233-1238
76. Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, de la Chapelle A, Lehesjoki AE. Assignment of the Muscle-Eye-Brain (MEB). Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping. Am. J. Hum. Genet. 1999;64:126-135
77. Cormand B, Larriba T, Chamoles N, Gort L, Chabás A, Vilageliu L, Grinberg D. Mutation Analysis in Gaucher Disease Patients from Argentina: High prevalence of the RecNciI Mutation. Am J Med Genet. 1998;80:343-351
78. Cormand B, Montfort M, Chabás A, Grinberg D, Vilageliu L. Reliable Cosegregation Analysis for Prenatal Diagnosis and Heterozygous Detection in Gaucher Disease. Prenatal Diag. 1998;18:207-212
79. 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. Hum Mutat. 1998;11:295-305
80. Cormand B, Montfort M, Chabás A, Vilageliu L, Grinberg D. Genetic Fine Localization of the b-glucocerebrosidase (GBA) and Prosaposin (PSAP) Genes: Implications for Gaucher Disease. Hum Genet. 1997;100:75
81. Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabás A. Two New Mild Homozygous Mutations in Gaucher's Disease Patients. Clinical Signs and Biochemical Analyses. Am J Med Genet. 1997;70:437-443
82. Chabás A, Cormand B, Balcells S, González-Duarte R, Casanova C, Colomer J, Vilageliu L, Grinberg D. Neuronopathic and Nonneuronopathic Presentation of Gaucher’s Disease in Patients with the Third Most Common Mutation (D409H) in Spain. J Inher Metab Dis. 1996;19:798-800
83. Cormand B, Vilageliu L, Balcells S, González-Duarte R, Chabás A, Grinberg D. Two Novel (1098insA and Y313H) and One Rare (R359Q) Mutations Detected in Exon 8 of the b-Glucocerebrosidase Gene in Gaucher's Disease Patients. Hum Mutat. 1996;7:272-274
84. Chabás A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, González-Duarte R, Vilageliu L. Unusual Expression of Gaucher's Disease: Cardiovascular Calcifications in Three Siblings Homozygous for the D409H Mutation. J Med Genet. 1995;32:740-742
85. Cormand B, Vilageliu L, Burguera JM, Balcells S, González-Duarte R, Grinberg D, Chabás A. Gaucher Disease in Spanish Patients: Analysis of Eight Mutations. Hum Mutat. 1995;5:303-309
86. Villena JA, Martin I, Viñas O, Cormand B, Iglesias R, Mampel T, Giralt M, Villaroya F. Transcription Factors Regulate the Expression of the Gene for the Human Mitochondrial ATP Synthase b-Subunit. J Biol Chem. 1994;269:32649-32654
Book chapters 1. Cormand B, Bayés M, Pihko H. Muscle-Eye-Brain disease: A new pathogenic mechanism for muscular dystrophy and
abnormal neuronal migration. In: “Progress in Muscular Dystrophy Research”. Nova Science Publishers Inc., New York, 2005
2. Grinberg D, Chabás A, Cormand B, Gort L, Montfort M, Díaz-Font A, Vilageliu L. Molecular basis of Gaucher disease. In: "Recent Research Developments in Human Genetics". S.G. Pandalai (ed.). Research Singpost vol. I part I: 223-235, 2003
Research stays abroad
(longer than 30 days)
Center: Dept. Medical Genetics and Folkhälsan Institute of Genetics (University of Helsinki)
Place: Helsinki Country: FINLAND Year: 1997 Duration: 2 Years 8 Months 15 Days
Issue: Mapping and identification of genes responsable for mendelian neurological disorders
Key: Postdoctoral
Conference contributions
Authors: Cormand, B.; Murakami, A.; Thurlow, J.; Dickson, C.; Grinberg, D.
Title: Analysis of regulatory elements of the FGF-3 promoter
Kind of participation: Poster
Conference: 17th International Congress of Genetics
Place of celebration: Birminghan (UNITED KINGDOM) Year: 1993
Authors: Chabás, A.; Cormand, B.; Burguera, J.M.; Vilageliu, Ll.; Grinberg, D.; Balcells, S.; Gonzàlez-Duarte, R.; Sobrino, J.M.
Title: Enzymatic and molecualr studies in an unusual case of Gaucher's disease with cardiovascular calcifications
Kind of participation: Presentation of communication
Conference: 2nd International Duodecim Symposium: Molecular Biology of Lysosomal Diseases
Place of celebration: Majvik (FINLAND) Year: 1993
Authors: Vilageliu, L.; Cormand, B.; Burguera, J.; Guardiola, A. Balcells, S.; Gonzàlez-Duarte, R.; Chabás, A.; Grinberg, D.
Title: Prevalence of eight mutations in Spanish Gaucher's disease patients
Kind of participation: Poster
Conference: 26th Annual Meeting of the European Society of Human Genetics
Place of celebration: Paris (FRANCE) Year: 1994
Authors: Chabás, A.; Cormand, B.; Burguera, J.M.; Balcells, S.; Gonzàlez-Duarte, R.;Grinberg, D.; Vilageliu, L.
Title: Analysis of eight Gaucher's disease mutations in Spanish patients
Kind of participation: Presentation of communication
Conference: I Workshop of the European Working Group on Gaucher Disease
Place of celebration: Trieste (ITALY) Year: 1994
Authors: Vilageliu, L.; Cormand, B.; Balcells, S.; Gonzàlez-Duarte, R.; Chabás, A.; Grinberg, D.
Title: Two Novel (1098insA and Y313H) and One Rare (R359Q) Mutations Detected in Exon 8 of the b-glucocerebrosidase Gene in Gaucher's Disease Patients
Kind of participation: Poster
Conference: 27th Annual Meeting of the European Society of Human Genetics
Publication: Medizinische Genetik 2: 272, 1995
Place of celebration: Berlin (GERMANY) Year: 1995
Authors: Chabás, A.; Cormand, B.; Grinberg, D.; Balcells, S.; Gonzàlez-Duarte, R.; Burguera, J.M.; Vilageliu, L.
Title: Neuronopathic and nonneuronopathic presentation fo Gaucher's disease in patients with the D409H mutation
Kind of participation: Presentation of communication
Conference: 10th ESGLD (European Study Group on Lysosomal Diseases) Workshop
Place of celebration: Cambridge (UNITED KINGDOM) Year: 1995
Authors: Cormand, B.; Gort, L.; Vilageliu, L.; Balcells, S.; Gonzàlez-Duarte, R.; Chabás, A.; Grinberg, D.
Title: Twelve new and two rare mutations in Gaucher's disease Spanish patients
Kind of participation: Poster
Conference: 28th Meeting of the European Society of Human Genetics
Publication: European Journal of Human Genetics 4 (suppl. 1):68-69, 1996
Place of celebration: Londres (UNITED KINGDOM) Year: 1996
Authors: Grinberg, D.; Cormand, B.; Montfort, M.; Chabás, A.; Vilageliu, Ll.
Title: Gaucher disease: fine mapping of the GBA gene and haplotype analysis in chromosomes bearing the N370S mutation
Kind of participation: Poster
Conference: 29th Annual Meeting of the European Society for Human Genetics
Publication: Medizinische Genetik 9 (Suppl.): 101, 1997
Place of celebration: Génova (ITALY) Year: 1997
Authors: Vilageliu, Ll.; Cormand, B.; Gort, L.; Grinberg, D.; Chabás, A.
Title: Identification of 24 different mutations in 53 Spanish patients and cosegregation analysis with highly polymorphic markers: implications for counseling
Kind of participation: Presentation of communication
Conference: II Workshop of the European Working Group on Gaucher disease
Place of celebration: Maastricht (NETHERLANDS) Year: 1997
Authors: Chabás, A.; Gort, L.; Cormand, B.; Grinberg, D.; Vilageliu, Ll.
Title: Gaucher disease in Spanish patients: Phenotypic expression and genotypes in 72 unrelated individuals
Kind of participation: Presentation of communication
Conference: II Workshop of the European Working Group on Gaucher disease
Place of celebration: Maastricht (NETHERLANDS) Year: 1997
Authors: Grinberg, D.; Cormand, B.; Harboe, T.L.; Montfort, M.; Gort, L.; Campoy, C.; Blanco, M.; Chabás, A.; Vilageliu, Ll.; Chamoles, N.
Title: Gaucher disease: mutation analysis of Argentinian patients
Kind of participation: Invited conference
Conference: XIII Congreso Argentino de Hematología
Place of celebration: Córdoba (ARGENTINA) Year: 1997
Authors: Pihko, H.; Cormand, B.; Santavuori, P.; Lehesjoki, A.E.
Title: Muscle-eye-brain disease (MEB) - Clinical heterogeneity and provisional mapping of the gene
Kind of participation: Poster
Conference: 50th Annual Meeting of the American Academy of Neurology
Publication: Neurology 50 (suppl.4):A22, 1998
Place of celebration: Minneapolis (UNITED STATES) Year: 1998
Authors: Cormand, B.; Avela, K.; Pihko, H.; Santavuori, P.; Talim, B.; Topaloglu, H.; Chapelle, A. de la; Lehesjoki, A.E.
Title: Assignment of the muscle-eye-brain (MEB) disease gene to 1p32 by linkage analysis
Kind of participation: Poster
Conference: 48th Annual Meeting of the American Society of Human Genetics
Publication: Am J Hum Genet 63(suppl.):A285, 1998
Place of celebration: Denver (UNITED STATES) Year: 1998
Authors: Vilageliu, L.; Díaz, A.; Montfort, M.; Cormand, B.; Zeng, B.; Pastores, G.M.; Chabás, A.; Grinberg, D.
Title: Mutation N370, the most prevalent Gaucher disease causing mutation is ancient and has a common origin in Ashkenazi Jewish and Spanish patients
Kind of participation: Presentation of communication
Conference: III Workshop of the European Working Group on Gaucher Disease
Place of celebration: Lemnos (GREECE) Year: 1999
Authors: Chabás, A.; Cormand, B.; Bruguera, J.M.; Grinberg, D.; Vilageliu, L.
Title: Glucocerebrosidase deficiency in a patient with myoclonus epilepsy
Kind of participation: Presentation of communication
Conference: III Workshop of the European Working Group on Gaucher Disease
Place of celebration: Lemnos (GREECE) Year: 1999
Authors: Talim, B.; Vignier, N.; Cormand, B.; Helbling-Leclerc, A.; Oto, A.; Gogus, S.; Cila, A.; Pihko, H.; Guicheney, P.; Topaloglu, H.
Title: A peculiar form of merosin-deficient congenital muscular dystrophy with mental retardation, severe phenotype and cerebellar cysts, which is unlinked to the LAMA2, FCMD and MEB loci
Kind of participation: Presentation of communication
Conference: 4th International Congress of the World Muscle Society
Publication: Neuromuscul Dis 9:533, 1999
Place of celebration: Antalya (TURKEY) Year: 1999
Authors: Cormand, B.; Pihko, H.; Dobyns, W.; Valanne, L.; Topaloglu, H.; Voit, T.; Santavuori, P.; Lehesjoki, A.E.
Title: Muscle-eye-brain disease and classical Walker-Warburg syndrome are two distinct disorders: A molecular genetic and clinical study
Kind of participation: Presentation of communication
Conference: 3rd Congress of the European Paediatric Neurology Society
Publication: Eur J Paed Neurol 3:A1, 2000
Place of celebration: Niza (FRANCE) Year: 1999
Authors: Sankila, E.M,; Joensuu, T.H.; Hamalainen, R.H.; Raitanen, N.; Ignatus, J.; Cormand, B.
Title: A CRX mutation in a Finnish family with dominant cone-rod retinal distrophy
Kind of participation: Poster
Conference: 49th Annual Meeting of the American Society of Human Genetics
Publication: Am J Hum Genet (suppl.):A489, 1999
Place of celebration: San Francisco (UNITED STATES) Year: 1999
Authors: Vilageliu, Ll.; Díaz, A.; Montfort, M.; Cormand, B.; Zeng, B.; Pastores, G.M.; Chabás, A.; Grinberg, D.
Title: The most prevalent Gaucher diseasemutation, N370S, has a common origin in Ashkenazi Jewish and Spanish patients and arose several thousand of years ago
Kind of participation: Poster
Conference: 31st Annual Meeting of the European Society of Human Genetics
Publication: European Journal of Human Genetics 7 (Suppl.1):131, 1999
Place of celebration: Ginebra (SWITZERLAND) Year: 1999
Authors: Cormand-Rifa, B.
Title: Are Walker-Warburg syndrome and Muscle-Eye-Brain disease allelic disorders?
Kind of participation: Invited conference
Conference: 68th ENMC International Workshop (5th International CMD Workshop): On Congenital Muscular Dystrophy
Publication: Neuromuscul Dis 9:446-454, 1999
Place of celebration: Naarden (NETHERLANDS) Year: 1999
Authors: Cormand-Rifa, B.
Title: Towards the Muscle-Eye-Brain Disease Gene: Genetic Localization,Physical Mapping and Mutation Analysis of Candidate Genes
Kind of participation: Invited conference
Conference: 68th ENMC International Workshop (5th International CMD Workshop): On Congenital Muscular Dystrophy
Publication: Neuromuscul Dis 9:446-454, 1999
Place of celebration: Naarden (NETHERLANDS) Year: 1999
Authors: Cormand-Rifa, B.
Title: Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
Kind of participation: Invited conference
Conference: 85th ENMC International Workshop (6th International CMD Workshop): On Congenital Muscular Dystrophy
Publication: Neuromuscul Dis 12:69-78, 2000
Place of celebration: Naarden (NETHERLANDS) Year: 2000
Authors: Cormand ,B.; Pihko, H.; Dobyns, W.; Valanne, L.; Topaloglu, H.; Voit, T.; Santavuori, P.; Lehesjoki, A.E.
Title: Clinical and genetic delineation of Muscle-Eye-Brain (MEB) and Walker-Warburg (WWS) syndrome
Kind of participation: Presentation of communication
Conference: 6th Meeting of the World Muscle Society
Place of celebration: Kruger Park (SOUTH AFRICA) Year: 2000
Authors: Grinberg, D.; Diaz, A.; Cormand, B.; Chabás, A.; Vilageliu, Ll.
Title: A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease
Kind of participation: Presentation of communication
Conference: IV Meeting of the European Working Group on Gaucher Disease (EWGGD)
Place of celebration: Jerusalen (ISRAEL) Year: 2000
Authors: Diaz, A.; Cormand, B.; Vilageliu, L.; Chabás, A.; Grinberg, D.
Title: Characterization of glucocerebrosidase recombinant alleles causing Gaucher disease
Kind of participation: Poster
Conference: 10th Internationl Congress of Human Genetics
Publication: European Journal of Human Genetics 9 (suppl.1):420, 2001
Place of celebration: Viena (AUSTRIA) Year: 2001
Authors: Vilageliu, L.; Diaz-Font, A.; Cormand, B.; Chabás, A.; Grinberg, D.
Title: Detailed analysis of different recombinant alleles in Gaucher disease patients
Kind of participation: Presentation of communication
Conference: 5th Meeting of the European Working Group on Gaucher Disease (EWGGD)
Publication: V.5, pp: A-53
Place of celebration: Praga (CZECH REPUBLIC) Year: 2002
Authors: Vilageliu, L.; Díaz-Font, A.; Cormand, B.; Grinberg D.; Chabás, A.
Title: Attempt to correct the L444P Gaucher disease-causing mutation by chimeraplasty
Kind of participation: Poster
Conference: 14th ESGLD Workshop
Place of celebration: Podebrady (CZECH REPUBLIC) Year: 2003
Authors: Díaz-Font, A.; Cormand, B.; Chabás, A.; Grinberg, D.; Vilageliu, L.
Title: Use of chimeraplasts on cells from Gaucher disease patients
Kind of participation: Poster
Conference: European Human Genetics Conference 2003
Publication: Eur J Hum Genet 11(suppl.1):177, 2003
Place of celebration: Birmingham (UNITED KINGDOM) Year: 2003
Authors: Valero de Bernabe, B.; Currier, S.; Talim, B.; Steinbrecher, A.; Celli, J.; van Beusekom, E.; van der Zwaag, B.; Kaiserily, H.; Merlini, L.; Chitayat, D.; Dobyns, W.B.; Cormand, B.; Lehesjoki, A.; Cruces, J.; Hamel, B.J.C.; Voit, T.; Topaloglu, H.; Walsh, C.A.; van Bokhoven, H.; Brunner, H.G.
Title: Genetic heterogeneity in Walker-Warburg syndrome: two genes found, at least two more to go
Kind of participation: Poster
Conference: European Society of Human Genetics 2003
Publication: Eur J Hum Genet 11(suppl.1):C20, 2003
Place of celebration: Birmingham (UNITED KINGDOM) Year: 2003
Authors: Pihko, H.; Diesen, C.; Rosenlew, C.; Cormand, B.; Dobyns, W.B.; Lehesjoki, A.E.; Dieguez, J.L.
Title: Spectrum of mutations in POMGnT1 in Muscle-Eye-Brain disease
Kind of participation: Poster
Conference: 8th Congress of the World Muscle Society
Publication: Neuromuscul Dis 13:636, 2003
Place of celebration: Szeged (HUNGARY) Year: 2003
Authors: Bernabé, D.B.V. de; Bokhoven, H. van; Beusekom, E. van; Vandenakker, W.; Kant, S.; Dobyns, W.B.; Cormand, B.; Currier, S.; Hamel, B.; Talim, B.; Topaloglu, H.; Brunner, H.G.
Title: Walker-Warburg Syndrome caused by severe Fukutin mutations
Kind of participation: Poster
Conference: 8th Congress of the World Muscle Society
Publication: Neuromuscul Dis 13:637, 2003
Place of celebration: Szeged (HUNGARY) Year: 2003
Authors: Garrido E., Grinberg D., Chabás A., Vilageliu L.& Cormand B.
Title: Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidois VI (Maroteaux-Lamy syndrome) patients, including 11 novel mutations
Kind of participation: Poster
Conference: European Human Genetics Conference 2004
Publication: European Journal of Human Genetics, S1: 232, 2004
Place of celebration: Munich (GERMANY) Year: 2004
Authors: Riudor, E.; Arranz, J.A.; Macaya, A.; Raspall, M.; Cuenca, E.; del Toro, M.; Roig, M.; Cormand, B.
Title: Hyperekplexia and molybdenum cofactor deficiency in one patient without genetic alterations in the GLRA1, MOCS1, MOCS2 and Gephyrin genes
Kind of participation: Presentation of communication
Conference: Society for the Study of Inborn Errors of Metabolism (SSIEM) 41st Annual Symposium
Place of celebration: Amsterdam (NETHERLANDS) Year: 2004
Authors: Anttonen, A.K.; Liukkonen, E.; Ranta, S.; Joensuu, T.; Cormand, B.; Gaily, E.; Lehesjoki, A.E.
Title: Clinical and molecular genetic characterization of two Finnish families with benign familial infantile seizures and paroxysmal dyskinesia.
Kind of participation: Poster
Conference: 58th Annual Meeting of the American Epilepsy Society
Publication: Epilepsia 45 (suppl. 7):219, 2004
Place of celebration: New Orleans (UNITED STATES) Year: 2004
Authors: Guzman, B.; Cormand, B.; Botey, A.; Poch, E.
Title: Implication of chromosome 18 in essential hipertensión by sib-pair análisis in the Spanish population
Kind of participation: Poster
Conference: The American Society of Nefrology 38th Annual Renal Week Meeting
Publication: J Am Soc Nephrol 16, 2005
Place of celebration: Pennsylvania (UNITED STATES) Year: 2005
Authors: Cuenca-León, E.; Banchs, I.; Corominas, R.; Fernández-Castillo, N.; Artigas, J.; Volpini, V.; Macaya, A.; Cormand, B.
Title: Novel CACNA1A gene mutations in Spanish patients with episodic ataxia, familial hemiplegic migraine and infantile paroxysmal vertigo
Kind of participation: Poster
Conference: Annual Meeting of the European Society of Human Genetics 2005
Publication: Eur J Hum Genet 13 (Suppl. 1):101, 2005
Place of celebration: Praga (CZECH REPUBLIC) Year: 2005
Authors: Ribasés, M.; Ramos, J.A.; Bosch, R.; Brunso, L.; Nogueira, M.; Gòmez, N.; García, E.; Bayés, M.; Cormand, B.; Casas, M.
Title: No association between adult Attention-deficit/hyperactivity disorder and BDNF or its specific receptor NTRK2 in a Spanish sample
Kind of participation: Poster
Conference: XIV World Congress on Psychiatric Genetics
Publication: Am J Med Genet (B) 141B (7):756, 2006
Place of celebration: Cagliari (ITALY) Year: 2006
Authors: Ribasés, M.; Guzmán, B.; González-Núñez, D.; Botey, A.; Poch, E.; Cormand, B.
Title: Implication of chromosome 18 in essential hypertension by sib-pair analysis and association studies: putative involvement of the RKHD2 gene
Kind of participation: Poster
Conference: Annual Meeting of the European Society of Human Genetics 2006
Publication: Eur J Hum Genet 14 (Suppl. 1):300-301, 2006
Place of celebration: Amsterdam (NETHERLANDS) Year: 2006
Authors: Garrido, E.; Chabás, A.; Hopwood, J.J.; Cormand, B.; Grinberg, D.; Vilageliu, L.
Title: Expression and biochemical characterization of novel mutations and polymorphism in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients
Kind of participation: Poster
Conference: European Human Genetics Conference 2006
Publication: European Journal of Human Genetics, 14 (S1): 265, 2006
Place of celebration: Amsterdam (NETHERLANDS) Year: 2006
Authors: Cuenca-León, E.; Corominas, R.; Ribasés, R.; Narberhaus, B.; del Toro, M.; Cormand, B.; Macaya, A.
Title: Association of the serotonin transporter gene (SLC6A4) to migraine with aura in Spanish patients
Kind of participation: Poster
Conference: Annual Meeting of the European Society of Human Genetics 2006
Publication: Eur J Hum Genet 14 (Suppl. 1):315-316, 2006
Place of celebration: Amsterdam (NETHERLANDS) Year: 2006
Authors: Corominas, R.; Ribasés, M.; Cuenca-León, E.; Narberhaus, B.; Roig, M.; Macaya, A.; Cormand, B.
Title: Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population
Kind of participation: Poster
Conference: Annual Meeting of the European Society of Human Genetics 2006
Publication: Eur J Hum Genet 14 (Suppl. 1):316, 2006
Place of celebration: Amsterdam (NETHERLANDS) Year: 2006
Authors: Brunso, L.; Ribasés, M.; Ramos, J.A.; Bosch, R.; Nogueira, M.; García, E.; Bayés, M.; Casas, M.; Cormand, B.
Title: Association of the serotonin transporter gene (SLC6A4) with attention-deficit/hyperactivity disorder in Spanish adult patients
Kind of participation: Poster
Conference: Annual Meeting of the European Society of Human Genetics 2006
Publication: Eur J Hum Genet 14 (Suppl. 1):289, 2006
Place of celebration: Amsterdam (NETHERLANDS) Year: 2006
Authors: Serra, S.A.; Cuenca-Leon, E.; Llobet, A.; Fernandez-Castillo, N.; Corominas, R.; Fernández, J.; Valverde, M.A.; Macaya, A.; Cormand, B.; Fernandez-Fernandez, J.M.
Title: A mutation in the first intracellular linker of CACNA1A modifies P/Q channel regulation, syntaxin 1A binding and lowers secretion efficiency: relevance to migraine clinical phenotype
Kind of participation: Poster
Conference: Joint Meeting of The German Society of Physiology and The Federation of European Physiological Societies.
Publication: Acta Physiologica 186 (Suppl. 650), 2006
Place of celebration: Munich (GERMANY) Year: 2006
Authors: Ribasés, M.; Ramos-Quiroga, J.A.; Hervás, A.; Bosch, R.; Bielsa, A.; Gastaminza, X.; Artigas, J.; Rodríguez-Ben, S.; Estivill, X.; Casas, M.; Cormand, B.; Bayés, M.
Title: Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit hyperactivity disorder identifies association for 5HT2A, DDC and MAOB.
Kind of participation: Presentation of communication
Conference: XV World Congress on Psychiatric Genetics
Publication: Book of Abstracts, page 33
Place of celebration: New York (UNITED STATES) Year: 2007
Authors: Ribasés, M.; Hervás, A.; Ramos-Quiroga, J.A.; Bosch, R.; Bielsa, A.; Gastaminza, X.; Rodríguez-Ben, S.; Estivill, X.; Casas, M.; Cormand, B.; Bayés, M.
Title: Association of childhood and adulthood attention-deficit/hyperactivity disorder and neurotrophic factors: contribution of NTF3, CNTFR and NTRK2
Kind of participation: Poster
Conference: XV World Congress on Psychiatric Genetics
Publication: Book of Abstracts, page 36
Place of celebration: New York (UNITED STATES) Year: 2007
Authors: Ribasés, M.; Ramos-Quiroga, J.A.; Hervás, A.; Bosch, R.; Bielsa, A.; Gastaminza, X.; Artigas, J.; Rodríguez-Ben, S.; Estivill, X.; Casas, M.; Cormand, B.; Bayés, M.
Title: Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit hyperactivity disorder identifies association for 5HT2A, DDC and MAOB.
Kind of participation: Poster
Conference: The 9th International Meeting on Human Genome Variation and Complex Genome Analysis
Publication: Book of Abstracts, page 51
Place of celebration: Sitges (Barcelona) (SPAIN) Year: 2007
Authors: Serra, S.A.; Cuenca-León, E.; Llobet, A.; Fernández-Castillo, N.; Corominas, R.; Fernandes, J.; Valverde, M.A.; Macaya, A.; Cormand, B.; Fernández-Fernández, J.M.
Title: Functional characterization of the CACNA1A A454T mutation: relevance to migraine clinical phenotype
Kind of participation: Presentation of communication
Conference: 14th Congress of Calcium Binding Proteins and Calcium Function in Health and Disease.
Place of celebration: La Palma (SPAIN) Year: 2007
Authors: Ribasés, M.; Hervás, A.; Ramos-Quiroga, J.A.; Bosch, R.; Bielsa, A.; Gastaminza, X.; Rodríguez-Ben, S.; Estivill, X.; Casas, M.; Cormand, B.; Bayés, M.
Title: Association of childhood and adulthood attention-deficit/hyperactivity disorder and neurotrophic factors: contribution of NTF3, CNTFR and NTRK2
Kind of participation: Poster
Conference: The 9th International Meeting on Human Genome Variation and Complex Genome Analysis
Publication: Book of Abstracts, page 154
Place of celebration: Sitges (Barcelona) (SPAIN) Year: 2007
Authors: Fernández, N.; Ribasés, M.; Gonzalvo, B.; Casas, M.; Roncero, C.; Cormand, B.
Title: Contribution of the dopamine transporter (SLC6A3) and the dopamine receptor D2 (DRD2) genes to cocaine addiction: a case-control association study in the Spanish population
Kind of participation: Poster
Conference: Annual Meeting of the European Society of Human Genetics 2007
Publication: Eur J Hum Genet 15 (Suppl. 1):246, 2007
Place of celebration: Nice (FRANCE) Year: 2007
Authors: Serra, S.A.; Cuenca-León, E.; Llobet, A.; Fernández-Castillo, N.; Corominas, R.; Fernandes, J.; Valverde, M.A.; Macaya, A.; Cormand, B.; Fernández-Fernández, J.M.
Title: A mutation in the first intracellular linker of CACNA1A modifies P/Q channel regulation, syntaxin 1A binding and lowers secretion efficiency: relevance to migraine clinical phenotype
Kind of participation: Presentation of communication
Conference: XXXIV Congress of the Spanish Society of Physiological Sciences (SECF) in collaboration with the Physiological Society
Publication: Acta Physiologica 190 (Suppl. 655):43, 2007
Place of celebration: Valladolid (SPAIN) Year: 2007
Authors: Corominas, R.; Sobrido, M.J.; Cuenca-León, E.; Blanco, P.; Narberhaus, B.; del Toro, M.; Leira, R.; López, J.; Ribasés, M.; Macaya, A.; Cormand, B.
Title: Association study of migraine and 19 candidate genes involved in serotoninergic neurotransmission in a Spanish population
Kind of participation: Poster
Conference: Annual Meeting of the European Society of Human Genetics 2008
Publication: Eur J Hum Genet 16 (Suppl. 2):329, 2008
Place of celebration: Barcelona (SPAIN) Year: 2008
Authors: Cuenca-León, E.; Corominas, R.; Montfort, M.; Artigas, J.; Roig, M.; Bayés, M.; Cormand, B.; Macaya, A.
Title: Familial hemiplegic migraine: linkage to chromosome 14q32 in a large Spanish kindred
Kind of participation: Poster
Conference: Annual Meeting of the European Society of Human Genetics 2008
Publication: Eur J Hum Genet 16 (Suppl. 2):312, 2008
Place of celebration: Barcelona (SPAIN) Year: 2008
Authors: Ribasés, M.; Bosch, R.; Hervás, A.; Ramos-Quiroga, J.A.; Bielsa, A.; Gastaminza, X.; Fernández-Anguiano, M.; Nogueira, M.; Gómez-Barros, N.; Estivill, X.; Casas, M.; Bayés, M.; Cormand, B.
Title: Case-control association study of six genes asymmetrically expressed in the two cerebral hemispheres: evidence of association of BAIAP2 and NEUROD6 with adulthood attention-deficit hyperactivity disorder.
Kind of participation: Poster
Conference: Annual Meeting of the European Society of Human Genetics 2008
Publication: Eur J Hum Genet 16 (Suppl. 2):289, 2008
Place of celebration: Barcelona (SPAIN) Year: 2008
Authors: Fernández-Castillo, N.; Ribasés, M.; Gonzalvo, B.; Casas, M.; Roncero, C.; Cormand, B.
Title: Association of cocaine dependence and neurotrophic factors: contribution of the Brain-Derived Neurotrophic Factor (BDNF) and the Neurotrophic Tyrosine Kinase Receptor 2 (NTRK2)
Kind of participation: Poster
Conference: Annual Meeting of the European Society of Human Genetics 2008
Publication: Eur J Hum Genet 16 (Suppl. 2):300, 2008
Place of celebration: Barcelona (SPAIN) Year: 2008
Authors: Serra, S.A.; Cuenca, E.; Llobet, A.; Rubio, F.; Plata, C.; Carreño, O.; Fernández-Castillo, N.; Corominas, R.; Valverde, M.A.; Macaya, A.; Cormand, B.; Fernández-Fernández, J.M.
Title: Functional characterization of the CACNA1A A454T mutation: relevance to migraine clinical phenotype
Kind of participation: Presentation of communication
Conference: 10th European Calcium Society (ECS)
Place of celebration: Leuven (BELGIUM) Year: 2008
Authors: Landaas, E.T.; Johansson, S.; Reif, A., Ramos-Quiroga, J.A.; Halmoy, A.; Jacobsen, K.K.; Fernández-Castillo, N.; Jacob,
C.P.; Casas, M.; Ribasés, M.; Franke, B.; Lesch, K.P.; Cormand, B.; Knapskog, P.; Haavik, J.
Title: Association studies of the serotonin transporter gene (SLC6A4) and persistent ADHD in Norwegians, and meta-analysis of the 5-HTTLPR S/L promoter variant in 2800 subjects from four populations
Kind of participation: Poster
Conference: XVI World Congress on Psychiatric Genetics
Place of celebration: Osaka (JAPAN) Year: 2008
Authors: Serra, S.A., Fernández-Castillo, N.; Cormand, B.; Macaya, A.; Valverde, M.A.; Fernández-Fernández, J.M.
Title: Functional analysis of the CACNA1A mutation Y1245C associated to Childhood Periodic Syndromes and Hemiplegic Migraine
Kind of participation: Presentation of communication
Conference: 10th European Calcium Society (ECS) Meeting
Place of celebration: Leuven (BELGIUM) Year: 2008
Authors: Serra, S.A.; Cuenca-León, E.; Llobet, A.; Fernández-Castillo, N.; Corominas, R.; Fernandes, J.; Valverde, M.A.; Macaya, A.; Cormand, B.; Fernández-Fernández, J.M.
Title: Functional characterization of the CACNA1A A454T mutation: relevance to migraine clinical phenotype
Kind of participation: Poster
Conference: Gordon Research Conference on Ion Channels
Place of celebration: Tilton (UNITED STATES) Year: 2008
Authors: Serra, S.A.; Fernández-Castillo, N.; Cormand, B.; Valverde, M.A.; Fernández-Fernández, J.M.
Title: Functional analysis of the CACNA1A mutation Y1245C associated to Childhood Periodic Syndromes and Hemiplegic Migraine
Kind of participation: Poster
Conference: Gordon Research Conference on Ion Channels
Place of celebration: Tilton (UNITED STATES) Year: 2008
Authors: Franke, B.; Johansson, S.; Cormand, B.; Ramos-Quiroga, J.A.; Asherson, P.; Faraone, S.V.; Buitelaar, J.K.; Lesch, K.P.; Haavik, J.; Reif, A.
Title: From childhood to adulthood -testing the IMAGE candidates in IMpACT
Kind of participation: Presentation of communication
Conference: 22nd European Congress of Neuropsychopharmacology (ECNP) Congress
Publication: Eur Neuropsychopharmacology 19 (Suppl. 3):S185, 2009
Place of celebration: Estanbul (TURKEY) Year: 2009
Authors: Serra, S.A.; Cuenca-León, E.; Llobet, A.; Rubio-Moscardo, F.; Plata, C.; Carreño, O.; Fernàndez-Castillo, N.; Corominas, R.; Valverde, M.A.; Macaya, A.; Cormand, B.;Fernández-Fernández, J.M.
Title: The CACNA1A A454T mutation prevents P/Q channel modulation by SNAREs and lowers secretion efficiency: relevance to migraine phenotype
Kind of participation: Poster
Conference: XXXVI International Congress of Physiological Sciences. Function of Life: Elements and Integration. The Physiological Society of Japan
Publication: The Journal of Physiological Sciences 59 (Suppl. 1):252, 2009.
Place of celebration: Kyoto (JAPAN) Year: 2009
Authors: Sánchez-Mora, C.; Ribasés, M.; Ramos-Quiroga, J.A.; Casas, M.; Bosch, R.; Boreatti-Hümmer, A.; Heine, M.; Jacob, C.P.; Lesch, K.P.; Fasmer, O.B.; Knappskog, P.M.; Kooij, J.J.S.; Kan, C.; Buitelar, J.K.; Mick, E.; Asherson, P.; Faraone, S.V.; Franke, B.; Johansson, S.; Haavik, J.; Reif, A.; Bayés, M.; Cormand, B.
Title: Meta-analysis of Brain-Derived Neurotrophic Factor p.Val66Met in Adult ADHD in four European populations
Kind of participation: Poster
Conference: XVII World Congress on Psychiatric Genetics
Publication: Book of Abstracts, page 109
Place of celebration: San Diego (UNITED STATES) Year: 2009
Authors: Franke, B.; Johansson, S.; Lesch, K.P.; Asherson, P.; Faraone, S.V.; Mick, E.; Buitelaar, J.; Haavik, J.; Cormand, B.; Ramos-Quiroga, J.A.; Reif, A.
Title: Meta-analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD
Kind of participation: Poster
Conference: XVII World Congress on Psychiatric Genetics
Place of celebration: San Diego (UNITED STATES) Year: 2009
Authors: Ribasés, M.; Bosch, R.; Hervás, A.; Ramos-Quiroga, J.A.; Sánchez-Mora, C.; Bielsa, A.; Gastaminza, X.; Guijarro-Domingo, S.; Nogueira, M.; Gómez-Barros; N.; Kreiker, S., Gross-Lesch, S.; Jacob, C.P.; Lesch, K.P.; Reif, A.; Johansson, S.; von Plessen, K.; Knappskog, P.M.; Haavik, J.; Estivill, X.; Casas, M.; Bayés, M.; Cormand, B.
Title: Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with ADHD
Kind of participation: Poster
Conference: XVII World Congress on Psychiatric Genetics
Publication: Book of Abstracts, page 108
Place of celebration: San Diego (UNITED STATES) Year: 2009
Authors: Johansson, S.; Halmøy, A.; Mavroconstanti, T.; Jacobsen, K.K.; Landaas, E.T.; Reif, A.; Jacob, C.; Boreatti-Hümmer, A.; Kreiker, S.; Lesch, K.P.; Kan, C.C.; Kooij, J.J.S.; Kiemeney, L.A.; Buitelaar, J.K.; Franke, B.; Ribasés, M.; Bosch, R.; Bayés, M.; Casas, M.; Ramos-Quiroga, J.A.; Cormand, B.; Knappskog, P.; Haavik, J.
Title: Common Variants in the TPH1 and TPH2 regions are not associated with persistent ADHDin3559 individuals from four european populations
Kind of participation: Poster
Conference: XVII World Congress on Psychiatric Genetics
Place of celebration: San Diego (UNITED STATES) Year: 2009
Authors: Reif, A.; Asherson, P.; Cormand, B.; Faraone, S.; Haavik, J.; Jacob, C.; Johansson, S.; Lesch, K.P.; Ramos-Quiroga, J.A.; Franke, B.
Title: The molecular genetics of adult ADHD – findings from the IMPACT study group
Kind of participation: Presentation of communication
Conference: 2nd International congress on ADHD
Place of celebration: Viena (AUSTRIA) Year: 2009
Authors: Toma, C.; Hervás, A.; Planelles, I.; Cuscó, I.; Caballero, R.; de Diego, Y.; Ribasés, M.; Bayés, M.; Cormand, B.
Title: Analysis of neurotransmitter systems and neurotrophic factors in autism: evaluation of 38 genes suggests involvement of DDC and DRD3
Kind of participation: Poster
Conference: XVIII World Congress on Psychiatric Genetics
Publication: Book of Abstracts, page 172
Place of celebration: Atenas (GREECE) Year: 2010
Authors: Carreño, O.; Corominas, R.; Sobrido, M.J.; Pardo, J.; Fernández-Morales, J.; Fernández-Fernández, J.M.; Pozo-Rosich, P.; Cormand, B.; Macaya, A
Title: TRP channels: a case-control association study with migraine
Kind of participation: Poster
Conference: Annual Meeting of the European Society of Human Genetics 2010
Publication: Eur J Hum Genet 18 (Suppl. 1):247, 2010
Place of celebration: Gothenburg (SWEDEN) Year: 2010
Authors: Corominas, R.; Carreño, O.; Sobrido, M.J.; Camiña, M.; Vila-Pueyo, M.; Narberhaus, B.; Pozo-Rosich, P.; Macaya, A.; Cormand, B.
Title: Synaptic exocytosis and migraine: association study of the SNARE complex and related genes in a Spanish population
Kind of participation: Poster
Conference: Annual Meeting of the European Society of Human Genetics 2010
Publication: Eur J Hum Genet 18 (Suppl. 1):245, 2010
Place of celebration: Gothenburg (SWEDEN) Year: 2010
Authors: Fernàndez-Castillo, N.; Orejarena, M.J.; Ribasés, M.; Casas, M.; Robledo, P.; Maldonado, R.; Cormand, B.
Title: Active and passive MDMA (‘ecstasy’) intake induces differential transcriptional changes in the mouse brain
Kind of participation: Poster
Conference: Annual Meeting of the American Sociaty of Human Genetics (ASHG)/International Congress of Human Genetics (ICHG) 2011
Place of celebration: Montreal (CANADA) Year: 2011
Authors: Urbizu, A.; Poca, M.A.; Toma, C.; Berlanga, A.; Sahuquillo, J.; Cormand, B.; Macaya, A.
Title: Paraxial mesoderm developmental genes in Chiari type I malformation: A genetic association study in the Spanish population
Kind of participation: Poster
Conference: Annual Meeting of the American Sociaty of Human Genetics (ASHG)/International Congress of Human Genetics (ICHG) 2011
Place of celebration: Montreal (CANADA) Year: 2011
Authors: Vila-Pueyo, M.; Cuenca-León, E.; García-Martínez, I.; Castro, F.; Gut, I.; Bayés, M.; Cormand, B.; Macaya, A.
Title: Exome re-sequencing in familial hemiplegic migraine with linkage to 14q32
Kind of participation: Poster
Conference: Annual Meeting of the American Sociaty of Human Genetics (ASHG)/International Congress of Human Genetics (ICHG) 2011
Place of celebration: Montreal (CANADA) Year: 2011
Authors: Landaas, E.T.; Weisflog, L.; Nguyen, T.T.; Quast, C.; Binder, E.; Ramos-Quiroga, J.A.; Cormand, B.; Haavik, J.; Franke, B.; Lesch, K.P.; Reif, A.
Title: DIRAS1 and ADHD in adults
Kind of participation: Poster
Conference: EUNETHYDIS 2n International ADHD Conference 2012
Place of celebration: Barcelona (SPAIN) Year: 2012
Authors: Torrico, B.; Hervás, A.; Franke, B.; Buitelaar, J.; Freitag, C.; Reif, A.; Maristany, M.; Milà, M.; Toma, C.; Cormand, B.
Title: Contribution of rare and common variants of the PTCHD1 gene to Autism Spectrum Disorder and Intellectual Disability
Kind of participation: Poster
Conference: Annual Meeting of the European Society of Human Genetics 2012
Publication: Eur J Hum Genet 20 (Suppl. 1):224, 2012
Place of celebration: Nürnberg (GERMANY) Year: 2012
Authors: Sintas, C.; Carreño, O.; Corominas, R.; Toma, C.; Vila, M.; Fernández-Castillo, N.; Cuenca, E.; Macaya, A.; Cormand, B.
Title: Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia type 2
Kind of participation: Poster
Conference: Annual Meeting of the European Society of Human Genetics 2012
Publication: Eur J Hum Genet 20 (Suppl. 1):305, 2012
Place of celebration: Nürnberg (GERMANY) Year: 2012
Authors: Carreño, O.; Corominas, R.; Serra, S.A.; Sintas, C.; Vila, M.; Fernández-Castillo, N.; Toma, C.; Pons, R.; Llaneza, M.; Sobrido, M.J.; Valverde, M.A.; Fernández-Fernández, J.M.; Macaya, A.; Cormand, B.
Title: Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies
Kind of participation: Poster
Conference: European Headache and Migraine Trust International Congress (EHMTIC) 2012
Place of celebration: London (UNITED KINGDOM) Year: 2012
Authors: Toma, C.; Tristán, A.; Hervás, A.; Torrico, B.; Valdés-Mas, R.; Balmaña, N.; Maristany, M.; Padillo, V.; Puente, X.S.; Bayés, M.; Cormand, B.
Title: Etiologic rare variants in autism multiplex families: exome and CNVs analyses
Kind of participation: Poster
Conference: American Society of Human Genetics Annual Meeting 2012
Place of celebration: San Francisco (UNITED STATES) Year: 2012
Authors: Toma, C.; Torrico, B.; Hervás, A.; Tristán, A.; Franke, B.; Freitag, C.; Maristany, M.; Bacchelli, E.; Cuscó, I.; Valdés-Mas, R.; Cormand, B.
Title: Rare and common variants of microRNA genes in Autism Spectrum Disorder
Kind of participation: Poster
Conference: XXth World Congress of Psychiatric Genetics
Place of celebration: Hamburg (GERMANY) Year: 2012
Authors: Landaas, E.T.; Weißflog, L.; Weber, H.; Nguyen, T.T., Quast, C.; Binder, E.; Ramos-Quiroga, J.A.; Johansson, S.; Cormand, B.; Haavik, J.; Franke, B.; Lesch, K.P.; Reif, A.
Title: Studies of DIRAS2, a candidate gene in adult ADHD
Kind of participation: Poster
Conference: XXth World Congress of Psychiatric Genetics
Place of celebration: Hamburg (GERMANY) Year: 2012
Authors: Fernández-Castillo, N.; Ribasés, M.; Soriano, J.; Casas, M.; Cormand, B.
Title: Effect of acute exposure to cocaine on gene expression in a dopaminergic neuronal model
Kind of participation: Presentation of communication
Conference: Catalonia International Congress in Biology: Global Questions on Advanced Biology
Place of celebration: Barcelona (SPAIN) Year: 2012
Authors: Torrico, B.; Hervás, A.; Franke, B.; Buitelaar, J.; Freitag, C.; Reif, A.; Maristany, M.; Milà, M.; Toma, C.; Cormand, B.
Title: Contribution of rare and common variants of the PTCDH1 gene to Autism Spectrum Disorder and Intellectual Disability
Kind of participation: Presentation of communication
Conference: Catalonia International Congress in Biology: Global Questions on Advanced Biology
Place of celebration: Barcelona (SPAIN) Year: 2012
Supervised Ph.D.-Theses
Title: Genetic and molecular analysis of Maroteaux-Lamy syndrome
Ph.D. candidate: Elena Garrido Fernández
University: Universitat de Barcelona
Faculty / School: Facultat de Biologia
Year: 2008 Mark: Excellent Cum Laude Key: Ph.D. Thesis
Title: Genetic and molecular analysis of inherited migraines
Ph.D. candidate: Ester Cuenca León
University: Universitat de Barcelona
Faculty / School: Facultat de Biologia
Year: 2008 Mark: Excellent Cum Laude Key: Ph.D. Thesis
Title: Evaluation of susceptibility genes for common migraine
Ph.D. candidate: Roser Corominas Castiñeira
University: Universitat de Barcelona
Faculty / School: Facultat de Biologia
Year: 2009 Mark: Excellent Cum Laude Key: Ph.D. Thesis
Title: ADHD in adults: Genetic factors, evaluation and pharmacological treatment
Ph.D. candidate: Josep Antoni Ramos Quiroga
University: Universitat Autònoma de Barcelona
Faculty / School: Facultat de Medicina
Year: 2009 Mark: Excellent Cum Laude Key: Ph.D. Thesis
Title: Genetics and psychostimulant drugs: Cocaine dependence and ecstasy abuse
Ph.D. candidate: Noelia Fernández Castillo
University: Universitat de Barcelona
Faculty / School: Facultat de Biologia
Year: 2011 Mark: Excellent Cum Laude Key: Ph.D. Thesis
Title: Genetic risk factors for attention-deficit/hyperactivity disorder (ADHD)
Ph.D. candidate: Cristina Sánchez Mora
University: Universitat de Barcelona
Faculty / School: Facultat de Biologia
Year: 2011 Mark: Excellent Cum Laude Key: Ph.D. Thesis
Title: Genetic and functional analysis of hemiplegic migraine and common migraine
Ph.D. candidate: Oriel Javiera Carreño
University: Universitat de Barcelona
Faculty / School: Facultat de Biologia
Year: 2011 Mark: Excellent Cum Laude Key: Ph.D. Thesis
Experience in Organization of R+D+I activities
Organization of scientific-technological activities, like conferences, seminars, workshops, etc.
Title: VI Meeting of the European Working Group on Gaucher Disease (EWGGD)
Activity model: Organization of international scientific meeting
Broad field: Genetics, clinics, biochemistry, pharmacology, therapy
Year: 2004
Other merits, achievements or comments you want to certify
Other Merits
TEACHING / MANAGEMENTE POSITIONS: Academic Secretariat, Degree of Biomedical Sciences (Universitat de Barcelona, 2009-present) Coordination Tutorial Programme, Degree of Biomedical Sciences (Universitat de Barcelona, 2010-present) Member of the PhD Commission (Department of Genetics, University of Barcelona, 2007-present)
SUPERVISION OF RESEARCH FELLOWS:
Supervised PhD Theses: 7
Supervised Master Projects: 9
Currently supervising 3 PhD Theses and 1 Master Project.
TUTORIZACIÓN DE TRABAJOS DE INVESTIGACIÓN:
Tutorization of more than 30 PhD Theses or Master projects that have been run outside the Department of Genetics, University of Barcelona.
EVALUATION OF PhD THESES AND MASTER PROJECTS
Participation in 29 Commissions for the evaluation of PhD Theses or Master Projects.
EVALUATION OF ACADEMIC POSITIONS
Participation in 7 Commissions for the evaluation of academic positions (Assistant Professor, Associate Professor)
Other merits related to research activity
MEMBER OF RESEARCH CONSORTIA:
Psychiatrics Genome Consortium (PGC), International Multicenter Persistent ADHD Collaboration (IMpACT), International Consortium on Headache Genetics (ICHG), Centre for Biomedical Network Research on Rare Diseases (CIBER-ER).
REFEREE FOR SCI JOURNALS: Referee for more than 20 international SCI journals (Mol Psychiatry, Biol Psychiatry, Am J Med Genet B, Am J Hum Genet, Hum Mutat, PLoS ONE, Neurogenetics, Am J Psychiatry, Am J Med Genet, Biochim Biophys Acta, etc.)
EVALUATION OF RESEARCH PROJECTS AND HUMAN RESOURCES:
Wellcome Trust, E-RARE, ERA-NET NEURON, AGAUR, FIS-Iinstituto de Salud Carlos III, Fundació Mútua de Terrassa, Human Fertilisation and Embriology Authority, ANECA.
AWARDS AND HONOURS: Qualification as a Full Professor (ANECA, Spain, 2011); Advanced Research Qualification (AQU, Spain, 2011); Extraordinary PhD Award, (Universitat de Barcelona, 1998).
POSTDOCTORAL TRAINING IN SPAIN AND ABROAD: 1) Dept. Medical Genetics and Folkhälsan Institute of Genetics (University of Helsinki, Finland, 1997-1999) 2) Biomedical Research Unit (Hospital Vall d'Hebron, Barcelona, 1999-2000) 3) Dept. of Genetics, Faculty of Biology (University of Barcelona, 2000-2001) 4) Department of Experimental Sciences and Health (University Pompeu Fabra, 2001)