Articles

Ribasés M, Hervás A, Ramos-Quiroga JA, Bosch R, Bielsa A, Gastaminza X, Fernández-Anguiano M, Nogueira M, Gómez-Barros N, Valero S, Gratacòs M, Estivill X, Casas M, Cormand B, Bayés M (2007) Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child ADHD: contribution of CNTFR, NTF3 and NTRK2. Biol Psych (in press)

Garrido E, Chabás 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

Ramos-Quiroga JA, Ribasés M, Bosch R, Cormand B, Casas M (2007) Genetic advances in attention-deficit hyperactivity disorder. Rev Neurol 44 (Suppl 3):S51-2

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 (2007) Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB. Mol Psych (in press)

Cuenca-Leon E, Corominas R, Fernández-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 (in press)

Ribasés M, Serrano M, Fernández-Álvarez 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

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. Neurología (in press)

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

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

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

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, Chabás 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, 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

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, 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

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

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

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-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

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, 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

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, 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

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

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, 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

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

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

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

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

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

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

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

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

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

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