www/GREC/htdocs/llistats/CU/CU05/05110 900002 … · Staff X Contracted - Temporary - Scholarship...

CURRICULUM VITAE

Name: BRU CORMAND

Date: 06/03/2013

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

mailto:[email protected]

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


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



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.



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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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?


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


Title: Towards the Muscle-Eye-Brain Disease Gene: Genetic Localization,Physical Mapping and Mutation Analysis of Candidate Genes






Title: Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease





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


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


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


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


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


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


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


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


Conference: 8th Congress of the World Muscle Society


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


Conference: 8th Congress of the World Muscle Society


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



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


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.


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


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


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


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



Publication: Eur J Hum Genet 14 (Suppl. 1):300-301, 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



Publication: European Journal of Human Genetics, 14 (S1): 265, 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



Publication: Eur J Hum Genet 14 (Suppl. 1):315-316, 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





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





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


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.


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


Conference: XV World Congress on Psychiatric Genetics


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.


Conference: The 9th International Meeting on Human Genome Variation and Complex Genome Analysis


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


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


Conference: The 9th International Meeting on Human Genome Variation and Complex Genome Analysis


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




Place of celebration: Nice (FRANCE) Year: 2007


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


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




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





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.





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)





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.



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


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


Conference: 10th European Calcium Society (ECS) Meeting

Place of celebration: Leuven (BELGIUM) Year: 2008




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


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


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


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


Conference: XVII World Congress on Psychiatric Genetics


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




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





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




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


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


Conference: XVIII World Congress on Psychiatric Genetics


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




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




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


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




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




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


Conference: EUNETHYDIS 2n International ADHD Conference 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




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




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


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


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


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


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


Conference: Catalonia International Congress in Biology: Global Questions on Advanced Biology


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


Conference: Catalonia International Congress in Biology: Global Questions on Advanced Biology


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




Title: Evaluation of susceptibility genes for common migraine

Ph.D. candidate: Roser Corominas Castiñeira




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


Title: Genetics and psychostimulant drugs: Cocaine dependence and ecstasy abuse

Ph.D. candidate: Noelia Fernández Castillo




Title: Genetic risk factors for attention-deficit/hyperactivity disorder (ADHD)

Ph.D. candidate: Cristina Sánchez Mora




Title: Genetic and functional analysis of hemiplegic migraine and common migraine

Ph.D. candidate: Oriel Javiera Carreño




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)

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