S’OFEREIX BECA PER FER TESI DOCTORAL !!! TEMA: GENÈTICA MÈDICA

ES BUSCA LLICENCIAT EN BIOLOGIA Projecte: BASES GENÈTIQUES; MOLECULARS I CEL.LULARS DE MALALTIES NEUROLÒGIQUES EPISÒDIQUES: ATÀXIA, MIGRANYA I EPILÈPSIA Lloc: Departament de Genètica, Facultat de Biologia, Universitat de Barcelona Direcció: Bru Cormand Requisits: Bon expedient acadèmic (mitjana superior al 2) i molta motivació S’ofereix: Beca predoctoral associada a projecte del Ministeri de Ciencia i Tecnologia, per

començar contracte a mitjans del 2007, tot i que es demanaria incorporació a principis d’any.

Contactar amb: Dr. Bru Cormand, bcormand@ub.edu, 93-4021013 Referències: 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 (2001) Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology 56:1059-1069 Rantamäki M, Krahe R, Pateau A, Cormand B, Mononen I, Udd B (2001) Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. Neurology 57:1043-1049 Cuenca-Leon E, Cormand B, Thomson T, Macaya A (2002) Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a spanish pedigree. Neuropediatrics 33:288-93 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 (2002) Mutations in the O-mannosyltransferase gen POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 71:1033-1043 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 (2003) A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg Syndrome phenotype. J Med Genet 40:845-848 Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez JL, Valanne L, Joensuu T, Lehesjoki AE (2004) POMGnT1 mutation and phenotypic spectrum in Muscle-Eye-Brain disease. J Med Genet 41:e115 Macaya A, Brunso L, Fernández-Castillo N, Arranz JA, Ginjaar HB, Cuenca-León E, Corominas R, Roig M, Cormand B (2005) Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. Neuropediatrics 36:389-394 Cuenca-Leon E, Corominas R, Fernández-Castillo N, Macaya A, Cormand B. Mutational analysis of the CACNA1A gene in 28 Spanish patients with hemiplegic migraine and childhood periodic syndromes (submitted). Serra SA, Cuenca-León E, Corominas R, Fernández-Castillo N, Fernández J, Valverde MA, Macaya A, Cormand B, Fernández-Fernándes JM. A mutation in the first intracellular linker of CACNA1A that modifies P/Q channel regulation by CaVβ subunits, G proteins and syntaxin 1A gains functional relevance under conditions of high electrical activity (submitted).