Departament de Genètica 
    


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BRU CORMAND


PUBLICATIONS



Articles
  1. 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)

  2. 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 (in press)

  3. 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

  4. 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 (in press)

  5. 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 (in press)

  6. 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 (in press)

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 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

  33. 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

  34. 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

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

  41. 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

  42. Guzm�n B, Cormand B, Ribas�s M, Gonz�lez-N��eza 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

  43. 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

  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

  50. 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

  51. 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

  52. 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

  53. 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

  54. 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

  55. 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

  56. 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

  57. 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

  58. 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

  59. 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

  60. 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

  61. 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

  62. 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

  63. 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

  64. 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

  65. 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

  66. 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

  67. 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

  68. 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

  69. 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

  70. 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

  71. 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;100:75-79

  72. 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

  73. 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

  74. 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

  75. 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

  76. 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

  77. 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