Departament de Genètica 


HUMAN MOLECULAR
 GENETICS


Susana Balcells
Neus Cols
Bru Cormand
Roser Gonzàlez
Daniel Grinberg
Gemma Marfany
Lluïsa Vilageliu

BRU CORMAND


contact
bio
research
publications


SELECTED PUBLICATIONS



Articles

Vila-Pueyo M, Gené GG, Flotats-Bastardes M, Elorza X, Sintas C, Valverde MA, Cormand B, Fernández-Fernández JM, Macaya A. A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy. Eur J Paediatr Neurol (in press)

Toma C, Torrico B, Hervás A, Valdés-Mas R, Tristán A, Padillo V, Maristany M, Salgado M, Arenas C, Puente XS, Bayés M, Cormand B. Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. Mol Psych (in press)

Yang L, Neale BM, Liu L, Lee SH, Wray NR, Ji N, Li H, Qian Q, Wang D, Li J, Faraone SV, Wang Y; Psychiatric GWAS Consortium: ADHD Subgroup, Doyle AE, Reif A, Rothenberger A, Franke B, Sonuga-Barke EJ, Steinhausen HC, Buitelaar JK, Kuntsi J, Biederman J, Lesch KP, Kent L, Asherson P, Oades RD, Loo SK, Nelson SF, Faraone SV, Smalley SL, Banaschewski T, Arias Vasquez A, Todorov A, Charach A, Miranda A, Warnke A, Thapar A, Neale BM, Cormand B, Freitag C, Mick E, Mulas F, Middleton F, HakonarsonHakonarson H, Palmason H, Schäfer H, Roeyers H, McGough JJ, Romanos J, Crosbie J, Meyer J, Ramos-Quiroga JA, Sergeant J, Elia J, Langely K, Nisenbaum L, Romanos M, Daly MJ, Ribasés M, Gill M, O'Donovan M, Owen M, Casas M, Bayés M, Lambregts-Rommelse N, Williams N, Holmans P, Anney RJ, Ebstein RP, Schachar R, Medland SE, Ripke S, Walitza S, Nguyen TT, Renner TJ, Hu X. Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants. Am J Med Genet B Neuropsychiatr Genet. 2013; 162B: 419-430

Ramos-Quiroga JA, Sánchez-Mora C, Casas M, García-Martínez I, Bosch R, Nogueira M, Corrales M, Palomar G, Vidal R, Coll-Tané M, Bayés M, Cormand B, Ribasés M. Genome-wide copy number variation analysis in adult Attention-Deficit and Hyperactivity Disorder. J Psych Res 2014; 49:60-67

Tristán-Noguero A, Fernàndez-Castillo N, Roncero C, Sánchez-Mora C, Ramos-Quiroga JA, Daigre C, Egido A, Alvarós J, Prat G, Casas M, Cormand B, Ribasés M. Lack of association between the LPR and VNTR polymorphisms of the serotonin transporter gene and cocaine dependence in a Spanish sample. Psychiatry Res 2013; 210:1287-1289

Camacho-Garcia RJ, Hervás A, Toma C, Balmaña N, Cormand B, Martinez-Mir A, Scholl FG. Rare variants analysis of neurexin-1b in autism reveals a novel start codon mutation affecting protein level at synapses. Psychiatr Genet 2013; 23:262-266

Molero-Luis M, Serrano M, Ormazábal A, Pérez-Dueñas B, García-Cazorla A, Pons R, Artuch R; For The Neurotransmitter Working Group. Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. Dev Med Child Neurol 2013; 55:559-566

Fernàndez-Castillo N, Roncero C, Grau-Lopez L, Barral C, Prat G, Rodriguez-Cintas L, Sánchez-Mora C, Gratacòs M, Ramos-Quiroga JA, Casas M, Ribasés M, Cormand B. Association study of 37 genes related to serotonin and dopamine neurotransmission and neurotrophic factors in cocaine dependence. Genes Brain Behav. 2013; 12:39-46

Hong Lee S, Ripke S, Cross-Disorder Group of the Psychiatric Genomics Consortium (PGC-CDG), Neale BM, Faraone SV, Purcell SM , International Inflammatory Bowel Disease Genetics Consortium (IIBDGC), Smoller JW, Kendler KS, Wray NR. Genetic Relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 2013; 45:984-995

Carreño O, Corominas R, Serra SA, Sintas C, Fernández-Castillo N, Vila-Pueyo M, Toma C, Gené GG, Pons R, Llaneza M, Sobrido MJ, Grinberg D, Valverde MA, Fernández-fernández JM, Macaya A, Cormand B. Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: Clinical, genetic and functional studies. Mol Genet Genomic Med 2013; 1:206-222

Sánchez-Mora C, Ramos-Quiroga JA, Garcia-Martínez I, Fernández-Castillo N, Bosch R, Richiarte V, Palomar G, Nogueira M, Corrales M, Toma C, Cormand B, Roncero C, Casas M, Ribasés M. Evaluation of Single Nucleotide Polymorphisms in the miR-183-96-182 cluster in Adulthood Attention-Deficit and Hyperactivity Disorder (ADHD) and Substance Use Disorders (SUDs). Eur Neuropsychopharmacol 2013; 23:1463-1473

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 Neuropsychiatr Genet 2013; 162:227-34

Pons R, Syrengelas D, Youroukos S, Orfanou I, Dinopoulos A, Cormand B, Ormazabal A, Garzía-Cazorla A, Serrano M, Artuch R. Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency. Mov Disord 2013; 28:1058-1063

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 2013; 8(2):e57241

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

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

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

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 br>
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)

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. Psychiatr Genet 2013; 23:82-85

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)

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

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  

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  

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

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

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  

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

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

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

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

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

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

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

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

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

Fernàndez-Castillo N, Ribasés M, Roncero C, Casas M, Gonzalvo B, Cormand. Association study between the DAT1, DBH and DRD2 genes and cocaine dependence in a Spanish sample. Psychiatr Genet. 2010; 20:317-320

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

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

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

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

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

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

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

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

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.

Corominas R, Ribases M, Camina M, Cuenca-Leon E, Pardo J, Boronat S, Sobrido MJ, Cormand B, Macaya A. Two-stage case-control association study of dopamine-related genes and migraine. BMC Med Genet. 2009;10:95

Corominas R, Ribasés M, Cuenca-León E, Narberhaus B, Serra SA, del Toro M, Roig M, Fernández-Fernández JM, Macaya A, Cormand B. Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population. Neurosci Lett. 2009;455:105-109

Ponsa I, Ramos-Quiroga JA, Ribasés M, Bosch R, Bielsa A, Ordeig MT, Morell M, Miró R, de Cid R, Estivill X, Casas M, Bayés M, Cormand B, Hervás A. Absence of cytogenetic effects in children and adults with attention-deficit/hyperactivity disorder treated with methylphenidate. Mutat Res. 2009;666:44-49

Cuenca-León E, Corominas R, Montfort M, Artigas J, Roig M, Bayés M, Cormand B, Macaya A. Familial Hemiplegic Migraine: Linkage to Chromosome 14q32 in a Spanish Kindred. Neurogenetics. 2009;10:191-198

Cuenca-León E, Banchs I, Serra SA, Latorre P, Fernàndez-Castillo N, Corominas R, Valverde MA, Volpini V, Fernández-Fernández JM, Macaya A, Cormand B. Late-Onset Episodic Ataxia Type 2 associated with a novel missense CACNA1A mutation. J Neurol Sciences. 2009;280:10-14

Serra SA, Fernàndez-Castillo N, Macaya A, Cormand B, Valverde MA, Fernández-Fernández JM. The Hemiplegic Migraine associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein mediated inhibition. Pflugers Archiv-Eur J Physiol. 2009;458:489-502

Corominas R, Ribasés M, Cuenca-León E, Cormand B, Macaya A. Lack of association of hormone receptor polymorphisms with migraine. Eur J Neurol. 2009;16:413-415

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. Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB. Mol Psychiatry. 2009;14:71-85

Cuenca-Leon E, Corominas R, Fernàndez-Castillo N, Volpini V, del Toro M, Roig M, Macaya A, Cormand B . Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes . Cephalalgia. 2008;28:1039-1045

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

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. Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child ADHD: contribution of CNTFR, NTF3 and NTRK2. Biol Psych. 2008;63:935-945

Narberhaus B, Cormand B, Cuenca-León E, Ribasés M, Monells J (2007) Hyperkaliemic periodic paralysis: A Spanish family with the p.Thr704Met mutation in the SCN4A gene. Neurologia. 2008;23:427-435

Garrido E, Chabàs A, Coll MJ, Blanco M, Domínguez C, Grinberg D, Vilageliu L, Cormand B. Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Molec Genet Metab. 2007;92:122-130

Ramos-Quiroga JA, Ribasés M, Bosch R, Cormand B, Casas M. Genetic advances in attention-deficit hyperactivity disorder. Rev Neurol. 2007;44(Suppl 3):S51-S52

Ribasés M, Serrano M, Fernàndez-Àlvarez E, Pahisa S, Ormazabal A, García-Cazorla A, Pérez-Dueñas B, Campistol J, Artuch R, Cormand B. A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. Molec Genet Metab. 2007;92:274-277

Guzmàn B, Cormand B, Ribasés M, Gonzàlez-Núñez 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

Ormazabal A, Garcia Cazorla A, Perez Duenas B, Pineda M, Ruiz A, Lopez Laso E, Garcia Silva M, Carilho I, Barbot C, Cormand B, Ribasés 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

Macaya A, Brunso L, Fernàndez-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

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

Díaz-Font A, Cormand B, Santamaria R, Vilageliu L, Grinberg D, Chabàs A. A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. Hum Genet. 2005;117:275-277

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.

Coll E, Cormand B, Gonzàlez-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

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

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

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

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

Díaz-Font A, Cormand B, Chamoles N, Chabàs 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

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

Beltràn-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

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

Arranz JA, Piñol F, Kozak L, Pérez-Cerdà 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

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

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

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

Cormand B, Díaz A , Grinberg D, Chabàs 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

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

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

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

Díaz A, Montfort M, Cormand B, Zeng B,Pastores GM, Chabàs 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

Díaz A, Montfort M, Cormand B, Zeng B,Pastores GM, Chabàs 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

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

Cormand B, Larriba T, Chamoles N, Gort L, Chabàs 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

Cormand B, Montfort M, Chabàs A, Grinberg D, Vilageliu L. Reliable Cosegregation Analysis for Prenatal Diagnosis and Heterozygous Detection in Gaucher Disease. Prenatal Diag. 1998;18:207-212

Cormand B, Grinberg D, Gort L, Chabàs 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

Cormand B, Montfort M, Chabàs A, Vilageliu L, Grinberg D. Genetic Fine Localization of the b-glucocerebrosidase (GBA) and Prosaposin (PSAP) Genes: Implications for Gaucher Disease. Hum Genet. 1997;100:75-79

Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabàs A. Two New Mild Homozygous Mutations in Gaucher's Disease Patients. Clinical Signs and Biochemical Analyses. Am J Med Genet. 1997;70:437-443

Chabàs A, Cormand B, Balcells S, Gonzàlez-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

Cormand B, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Chabàs 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

Chabàs A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Gonzàlez-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

Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabàs A. Gaucher Disease in Spanish Patients: Analysis of Eight Mutations. Hum Mutat. 1995;5:303-309

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

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

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