1997.MALALTIES GENÈTIQUES HEREDITÀRIES. PROJECTES FINANÇATS

Dr  Josep Maria Aran Perramon

De Semir, D., Pétriz, J., Avinyó, A., Larriba, S., Nunes, V., Casals, T., Estivill, X. and Aran, J.M. Non-viral vector-mediated uptake, distribution and stability of chimeraplasts in human airway epithelial cells.  J. Gene Med. 4:308-322. (2002).

De Semir, D., Avinyó, A., Larriba, S., Nunes, V., Casals, T., Estivill, X. and Aran, J.M. Quantitative assessment of chimeraplast stability in biological fluids by polyacrylamide gel electrophoresis and laser-assisted fluorescence analysis.  Pharm. Res. 19:914-918. (2002)

De Semir, D., Nadal, M., González, J.R., Larriba, S., Avinyó, A., Nunes, V., Casals, T., Estivill, X. and Aran, J.M. Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway epithelial cells. J. Gene Med. 5: 625-639 (2003).

De Semir, D., Aran J.M.Targeted Gene Repair: The UPS and Downs of romising Gene Therapy Approach. Current Gene Therapy,  6: 481-504

De Semir, D., Aran J.M.Misleading Gene Conversion Frequencies Due to a PCR Artifact Using Small Fragment Homologous Replacement. OLIGONUCLEOTIDES 13:261-269 (2003)

Dr  Maria L. Arbonés de Rafael

Estivill X, López-Bigas N, Rabionet R, Bravo O, Girons J, Arbonés ML. mtDNA mutation and progressive deafness: modifying factors of a common mutation causing late onset deafness.The American Journal of Human Genetics 65 (suplement): A270:1509, 1999.

Rabionet R, Zelante L, López-Bigas N, DAgruma L, Melchionda S, Restagno R, Arbonés ML, Gasparini P, Estivill X. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.Hum Genet. 2000; 106: 40-4.

López-Bigas N, Rabionet R, Martínez E, Bravo O, Girons J, Borragan A, Pellicer M, Arbones ML, Estivill X. Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation.Am J Hum Genet. 2000; 66:1465-7.

López-Bigas N, Rabionet R, De Cid R, Govea N, Gasparini P, Zelante L, Arbones ML, Estivill X. Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.Hum Mutat. 1999; 14:520-6.

Lopez-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbones ML, Gasparini P, Estivill X. Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Human Mutation 18(6):548, 2001.

Lopez-Bigas N, Olive M, Rabionet R, Ben-David O, Martinez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbones ML, Estivill X. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Human Molecular Genetics 10:947-52, 2001.

Rabionet R, López-Bigas N, Arbonés ML, Estivill E. Connexin mutations in hearing loss, dermatological and neurological disorders. Trends in Molecular Medicine., 8:205-11, 2002.

Wattenhofer M, Di Iorio V, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones L,.Estivill X, Gasparini P, Scott HS, Antonarakis SE. Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. Journal of Molecular Medicine 80:124-31, 2002.

Thonnissen E, Rabionet R, Arbones ML, Estivill X, Willecke K, Ott T. Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. Human Genetics 111:190-7, 2002.

López-Bigas N, Arbonés ML, Estivill E, Simonneau L. Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea. Mechanisms of Development-Gene Expression Patterns 2:113-7, 2002.

Dr  Montserrat Baiget Bastús

M. Baiget, L. Martorell. Triplet expansions into diverse phenotypes. Clinical Chemistry and Laboratory Medicine, 1999; 37:S23

L. Martorell, D. Monckton, J. Gámez, M. Baiget. Intergenerational dynamics of the CTG repeat in Myotonic Dystrophy: role of age dependent somatic mopsaicism and male germline instability. Clinical Chemistry and Laboratory Medicine, 1999; 37:S139

M. Baiget. New nomenclature and DNA testing guidelines for myotonic dystrophy type I (DM1) Neurology 2000;54:1218-1221.The International Myotonic Dystrophy Consortium (IDMC)

L. Martorell, DG. Monckton, J. Gamez, M. Baiget. Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type I. European Journal of Human Genetics 2000;8:423-430.

T. Pampols, JA. Arranz, R. Artuch, M. Baiget, F. Borja, P. Biones, T. Casals, A. Chabás, MJ. Coll, E. Del Rio, C. Dominguez, X. Estivill, P. Gallano, M. Girós, M. Martinez, A. Maya, M. Mila, E. Margarit, L. Martorell, E. Monros, V. Nunes, N. Potau, M Puliol, J Oriola, A. Ribes, E. Riudor, M. Rodes, E. Tizzano, MA. Vilaseca, V. Volpini. Errors congènits del metabolisme (ECM). Pediatria Catalana 2000; 60:561-570.

C. Zühlke, J. Atici, L. Martorell, U. Gembruch, M. Kohl, W. Göpel, E. Schwinger. Rapid detection of expansions by PCR and nonradioactive hybridization: application for prenatal diagnosis of Myotonic Dystrophy. Prenatal Diagnosis 2000; 20:66-69.

L. Martorell, DG. Monckton, A. Sanchez, A. Lopez de Munain, M. Baiget . Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology 2001; 56:328-336. 

P. Gallano, M. Baiget, C. Serrano, l. Lil. Les distrófies musculars: aspectes clínics, histológics i moleculars. En Lliçons de Patologia Molecular. Springer-Verlag Ibérica. Barcelona 2000 ISBN: 84-07-00177-5

C. Ayuso, M. Baiget, F. Palau, V. Volpini. Patología molecular hereditaria 11. En Medicina Interna. Farreras Rozman. Ediciones Hartcourt SA. Barcelona 2000. ISBN: 84-8174-357-7

Dr  Jordi Barquinero Mañez

A Bernad, F Varas, M Ramírez, JC Segovia, G Güenechea, J Barquinero, JA Bueren. Retrovirally mediated genetic marking of murine and human hematopoietic repopulating cells. En: Viral Vectors: Basic Science and Gene Therapy. Eaton Publishing. Editores: Angel Cid-Arregui & Alejandro García-Carrancá. 2000.

JA Bueren, JC Segovia, M Ramírez, G Güenechea, A. Limón, J Barquinero. Avances en la terapia génica de células madre hematopoyéticas. Methods Find Exp Clin Pharmacol 2001, 23 (Supl 1): 5-7.

J Barquinero, M García. Terapia génica para enfermedades hereditarias: realidad o ficción. Med Clin 2001; 117: 778-80.

T Puig, E Kádár, A Limón, JA Cancelas, H Eixarch, L Luquín, M García, J Barquinero. Myeloablation enhances engraftment of transduced murine hematopoietic cells but does not influence long-term expression of the transgene. Gene Therapy 2002; 9: 1472-9

Dr  Lluís Bassas Arnau

Casals T, Bassas L, Egozcue S, Ramos MD, Giménez J, Segura A, García F, Carrera C, Larriba S, Sarquella J , Estivill X. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.Human Reproduction 2000, vol 15 núm 7, p.1476-1483.

S. Larriba, Ll. Bassas, S. Egozcue, J. Giménez, M. D. Ramos, O. Briceño, X. Estivill, T. Casals. Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility. Biology of Reproduction, 65:394-400 (2001)

Ll. Bassas, S. Larriba, A. Segura, S. Egozcue, T. Casals. Mutaciones del gen CFTR y su relación con las alteraciones genitourinariasy de la fertilidad masculina A: ASESA (Ed.) Temas de actualidad andrológica, Jarpyo Editors, Madrid (2001), pp. 273-287

S. Larriba, T. Casals, J. Sarquella, E. Amaya, M. D. Ramos, J. Giménez, V. Nunes, Ll. Bassas Estudio Molecular de la infertilidad masculina secretora en una muestra de la población española. Revista Iberoamericana de Fertilidad y Reproducción Humana, 18 (supl 1):124-127 (2002)

Dr  Jaume Bertranpetit Busquets

Mateu E,  Calafell F,  Bonné-Tamir B,  Kidd JR,  Casals T, Kidd KK and Bertranpetit J.. Allele frequencies in a worldwide survey of a CA repeat in the first intron of the CFTR gene. Hum Hered 49:15-20. (1999)

Mateu E, Calafell F, Lao O, Bonné-Tamir, B, Kidd, JR, Pakstis A, Kidd, KK and Bertranpetit, J.  Worldwide genetic analysis of the CFTR region. Am J Hum Genet 68: 103-117. (2001)

Mateu E,  Calafell F,  Ramos MD, Casals T, Bertranpetit J. Can a place  of  origin of the main Cystic Fibrosis mutations be identified? Am J Hum Genet 70:257-264. (2002)

Lao O., Andrés AM., Mateu E., Bertranpetit J., Calafell F. Spatial patterns of cystic fibrosis mutation spectra in european popualtions. Eur J Hum Genet. (in press)

Dr  Fàtima Bosch Tubert

M.George, E. Ayuso, A. Casellas, C. Costa, J.C. Devedjian and F Bosch. B-cell express ion of insulin-like growth factor-i leads to recovery from type 1 diabetes. . J. Clin.Invest. (2002) 109(9),1153-1163 

P. Otaegui, M. Ontiveros, T. Ferre, E. Riu, R. Jimenez & F. Bosch. Glucose-regulated glucose uptake by transplantee muscle cells expressing glucokinase counteracts diabetic hyperglycemia. Hum. Gene Ther. (2002) 13, 2125-2133

A. Mas, J.Montane, P. Otaegui, E. Riu, M.Chillon & F. Bosch. Basal express ion of insulin in skeletal muscle together with low doses of soluble exogenous insulin maintains normoglycemia in diabetic animals.(sent)

A Mas, J.Montane, M.Chillon, E. Riu, P. Otaegui & F. Bosch. Glucokinase expression in skeletal muscle increases insulin sensitivity in diabetic mice. (sent)

E. Ayuso, M.Chillon, J. Agudo, V. Haurigot, A. Bosch, J. Ruberte, P. Otaegui & F. Bosch. In vivo gene transfer to pancreatic b-cells by systemic dellvery of adenoviral vectors. I (in preparation)

Mas, J.Montane, M. Chillón, X. Martínez, S. Muñoz, M.Ontiveros, E. Riu, P. Otaegui & F. Bosch. Insulin and glucokinase gene expression in skeletal muscle reverts type 1 diabetes.  (in preparation)

A. Casellas, A. Salavert, E. Ayuso, M. Moya, M. Garcia, J. Agudo & F. Bosch.  Insulin-like growth factor-i expression in b-cells counteracts autoimmune diabetes.  (in preparation)

George M., Ayuso E., Casellas A., Costa C., Devedjian JC., Bosch F. B-cell express ion of insulln-like growth factor-i leads to recovery from type 1 diabetes.  J. Clin.Invest. (2002) 109(9), 1153-1163

Otaegui P., Ontiveros M., Ferre T., Riu E., Jimenez R., Bosch F. Glucose-regulated glucose uptake by transplantee muscle cells expressing glucokinase counteracts diabetic hyperglycemia  Hum. Gene Ther. (2002) 13, 2125-2133

Díaz de Espada, M.; Sánchez-Gutiérrez, J.C.; Pujol, A.; García, M.; Lechuga, C.G.; Parra, B.; Bosch, F. and Feliu, J.E.  Impaired fructose tolerance in transgenic mice overexpressing fructokinase in liver.  REF. REVISTA: (en preparació). CLAVE: A

Lechuga, C.G.; Díaz de Espada, M.; Sánchez-Gutiérrez, J.C.; Parra, B. and Feliu, J.E. Metabolic changes in fto-2b hepatoma cells by overexpression of rat fructokinase. REF. REVISTA: (en preparació). CLAVE: A

Garcia, M.; Pujol, A.; Riu, E.; Arbós, A.; Ferre, T.; Otaegui, P.; Roca, C.; Feliu, J.E. and Bosch, F. Targeted disruption of muscle type pfk1; a potential model of type vii glycogen storage disease.  REF. REVISTA: (en preparació).CLAVE: A

Dr  Joan X. Comella Carnicé

Dr  Jordi García Fernández

Encinas M, Iglesias M, Llecha N, Comella JX. Extracellular-regulated kinases and phosphatidylinositol 3-kinase are involved in brain-derived neurotrophic factor-mediated survival and neuritogenesis of the neuroblastoma cell line SH-SY5Y. Journal of Neurochemistry 73: 1409-1421. 1999.

Soler RM, Dolcet X, Encinas M, Egea J, Bayascas JR, Comella JX. Receptors of the glial cell line-derived neurotrophic factor family of neurotrophic factors signal cell survival through the phosphatidylinositol 3-kinase pathway in spinal cord motoneurons. The Journal of Neuroscience 19:9160-9169. 1999.

Egea J, Espinet C, Soler RM, Peiro S, Rocamora N, Comella JX. Nerve growth factor activation of the extracellular signal-regulated kinase pathway is modulated by Ca2+ and calmodulin. Molecular and Cellular Biology 20:1931-1946. 2000.

Espinet C, Gómez-Arbones X, Egea J, Comella JX. Combined use of the green fluorescent protein and fluorescent-activated cell sorting to select pure populations of transiently transfected PC12 cells. Journal of Neuroscience Methods 100:63-69. 2000.

Peiro S, Comella J, Enrich C, Martin-Zanca D, Rocamora N. PC12 cells have caveolae that contain TrkA, caveolae-disrupting drugs inhibit NGF-, but not EGF-, induced MAPK phosphorylation. Journal of Biological Chemistry. 275: 37846-37852. 2000.

Benito E., Patten l., Bayascas JR., Camella JX., Garcia-Fernandez J. Trk neurotrophic receptors are not an invention of vertebrates. Science, (in revision).

Yuste V.J., Bayascas J.R., Llecha N., Sánchez-lópez I., Boix J., Comella J.X. The absence of oligonucleosomal dna fragmentation during apoptosis of imr-5 neuroblastoma Gel/s. disappearance of the caspase-activated DNase. Journal of Biological Chemistry. 276: 22323-22331. 2001.

Egea J.,  Espinet C., Soler R.M., Dolcet X.,  Iglesias M., Rocamora N.,  Comella J.X. Neuronal survival induced by neurotrophins requires calmodulin. Journal of Cell Biology. 154:585-597. 2001.

Yuste V.J., Bayascas J.R., Benito E.,  García-Fernández J., Comella J.X.  Isolation of AmphiCASP-3/7, an ancestral caspase from amphioxus (Branchiostoma floridae). Evolutionary considerations for vertebrate caspases Cell Death & Differentiation. 9:1078-1089. 2002.

Llovera M., Egea J., Encinas M. , de Pablo Y., Peiro S., Martin-Zanca D., Rocamora N., Comella J.X.  Calmodulin binds to TrkA: Implications in the regulation of receptor cleavage.

Journal of Biological Chemistry. (Submitted). 2003

Dr  Alejandro Darnell Tey

Pérez-Oller L, Torra R, Badenas C, Milà M, Darnell A. Influence of the Angiotensin Converting Enzyme polymorphysm in the progression of renal disease in autosomal dominant polycystic kidney disease. Am J Kidney Dis 1999; 34: 273-278 

Torra R, Badenas C, Pérez-Oller L, San Millán JL, Estivill X, Darnell A. Demostration of a loss-of-function model for cystogenesis in polycystic kidney disease type 2. Am J Hum Genet 1999; 65: 345-352

Badenas C, Torra R, Pérez-Oller L, Talbot-Wright R, Torregrosa V, Mallolas J, Darnell A. Loss of heterozygosity in renal and hepatic epithelial cystic cells from PKD1 patients. Eur J Hum Genet 2000; 8: 487-492 

Nicolau C, Torra R, Vilana R, Bianchi L, Gilabert R, Darnell A, Brú C. Abdominal sonographic study of autosomal dominant polycystic kidney disease. J Ultr Med 2000; 28: 277-282 

Torra R, Badenas C, Pérez-Oller L, San Millán JL, Nicolau C, Oppenheimer F, Milà M, Darnell A. Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients. Am J Kidney Dis 2000; 36: 728-734

Nicolau C, Torra R, Badenas C, Pérez L, 0liver JA, Darnell A, Brú C. Sonographic partero of recessive polycystic kidney disease in young adults. Differences from fue dominant form. Nephrol Dial Transplant 2000; 15: 1373-1378

Dr  Xavier Estivill Pallejà

M Gratacòs, M Nadal, R Martín-Santos, MA Pujana, J Gago, B Peral, L Armengol, I Ponsa, R Miró, V Volpini, A Bulbena, X Estivill. A polymorphic genomic duplication on human chromosome 15 is a major susceptibility genetic factor for panic and phobic disorder. Cell 106: 367-379 (2001)

MA Pujana, M Nadal, M Gratacòs, B Peral, K Csiszar, R González-Sarmiento, L Sumoy, X Estivill. Additional complexity on human chromosome 15q: identification of a set of novel duplicons (LCR15) on 15q11-q13, 15q24 and 15q26. Genome Research 11: 98-111 (2001)

L Sumoy, L Carim, M Escarceller, M Nadal, M Gratacòs, MA Pujana, X Estivill, B Peral. HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expression. Cytogenetics Cell Genetics  88:62-67 (2001)

MA Pujana, L Armengol, M Nadal, M Gratacòs, X Estivill. Human chromosome 15q-q14 regions of rearrangements contain clusters of LCR15 duplicons. European Journal of Human Genetics 10:26-35 (2002)

P Gorwood, J Adès, L Bellodi, E Cellini, D A Collier, D Di Bella, M Di Bernardo, X Estivill, F Fernandez-Aranda, M Gratacòs, J Hebebrand, A Hinney, X Hu, A Karwautz, A Kipman, M-C Mouren-Siméoni, B Nacmias, M Ribasés, V Ricca, C M Rotella, S Sorbi y J Treasure. The 5HT-2 -1438G/A polymorphism in anorexia nervosa: a combined analysis of 316 trios from six european centres. Molecular Psychiatry  7:90-4 (2002)

L Armengol, M Gratacòs, M Nadal, M A Pujana, M Ribassés R Martín-Santos, X Estivill. 5' UTR-region SNP in the NTRK3 gene is associated with panic disorder. Molecular  Psychiatry 7:928-930 (2002)

MA Puj ana, L Armengol, M Na~, M Gratacos, X Estivill. LCR15 is a high copy number duplican on human chromosome 15 mapping to 15q11q14 regions of rearrangements. (submitted).

Dr  Emílio Fernández Álvarez

Grimalt MA, Ruíz-Gómez A, Román JM, Martín A, Ribes A. Leucoencefalopatía y megaloencefalia con formación de quistes. Aportación de un nuevo caso portador de un fenotipo Bannayan-Zonana like.Revista de Neurología. Vol. 31 (separata), 2000. ISSN 0210-0010

Anderson L.V.B., Davison K, Moss J. A., Richard I, Fardeau M, Tome F, Hübner C, Lasa A, Colomer J, Beckmann J . Characterization of Monoclonal Antibodies to Calpain 3 and Protein Expression in Muscle from Patients with Limg-Girdle Muscular Dysrophy Type.. Am J Patholog, 1998, 153:1169-1179.

Colomer J. Sarcoglicanopatías. Rev Neurol 1999, Jan 16-3;28 (2):150-3 

Colomer J, Iturriaga C, Bonne G, Schwartz S, Manilal S, Morris G.E, Puche M. Autosomal dominant Emery-Dreifuss muscular dystrophy:a new family with late diagnosis. Neuromuscular Disorders 2002, 12 (1): 19-25

Sugie K., Yamamoto, Murayama K., Colomer J., Iturriaga C., et al. Clinicopathological features of genetically confirmed Danon disease. Neurology (in press) 2002.

Dr  Antonio García de Herreros Madueño

Batlle E, Sancho E, Francí CL, Domínguez D, Monfar M, Baulida J, García de Herreros A. The transcription factor Snail is a repressor of E-cadherin gene expression in epithelial tumour cells.Nature Cell Biology 2000, 2: 84-89

Tan C, Costello P, Sanghera  J, Domínguez  D, Baulida J, García de Herreros A, Dedhar S. Inhibition of integrin linked kinase (ILK) suppresses b-catenin-Lef/tcf-dependent transcription and expression of the E-cadherin repressor, Snail, in APC -/- human colon carcinoma cells. Oncogene 2001, 20: 133-136.

Piedra J, Martínez D, Castaño J , Miravet S, Duñach, M*, Garcia de Herreros A. Regulation of b-catenin structure and function by tyrosine phosphorylation. J. Biol. Chem. 2001, 276: 20436-20443.

Miravet, S., Piedra, J., Miró, F, Itarte, E, García de Herreros, A.*, Duñach, M.* (*ambdós autors signen com autors per a correspondència) "The transcriptional factor Tcf-4 contains different binding sites for b-catenin and plakoglobin". J. Biol. Chem. 277, 1884-189 (2002).

Roura, S., Martínez, D., Piedra, J., Miravet, S., Duñach, M., García de Herreros, A. A positive rafe for APC 3x15 j3-catenin-binding domain in the regularían of TCF-4 transcriptional activity. (publication pending)

C Tan, PCostello, J Sanghera, D Dominguez, J Baulida, A Garcia de Herreros and S Dedhar. Inhibition of integrin linked kinase (ILK) suppressesB-catenin-Lef/ Tcf-dependent transcription and expression of the E-cadherin repressor, snail, in APC - / - human colon carcinoma cells. Oncolene (2001) 20, 133-140.

Dr  Fausto García Hegart

R. Aledo, J. Zschocke, J. Pié, C. Mir, S. Fiesel, E. Mayatepek, G.F. Hoffmann, N. Casals  & F. G. Hegardt .Genetic basis of mitochondrial HMG-CoA synthase deficiency .Human Genetics (2001) 109:19-23

J. Zschocke, J. M Penzien, R. Bielen, N. Casals, R. Aledo, J. Pié, G. F. Hoffmann, F. G. Hegardt i Ertan Mayatepek., Diagnosing mitochondrial HMG-CoA synthase deficiency. The ournal of Pediatrics (2002) 140, 778-780

N Casals , P Gómez-Puertas, J Pié, R Roca, C Mir, R Aledo, B Puisac, D Serra, G Asins, J Till, Alun C. Elias-Jones, JC. Crespo, N A. Chamoles, J E. Abdenur, E Mayatepek, G Besley, A Valencia and F G. Hegardt.THE PROPOSED (aB)8 BARREL STRUCTURE OF HMG-CoA L YASE AS A FRAMEWORK FOR THE FUNCTIONAL INTERPRETA TION OF THREE NOVEL MUTATIONS PRODUCING 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA. (publication pending)

R Aledo, J Zschocke, J Pié, C Mir, S Fiesel, E Mayatepek, G F. Hoffmann, N Casals, F G. Hegardt. THE GENETIC BASIS OF MITOCHONDRIAL HMG-COA SYNTHASE DEFICIENCY.  (publication pending)

Pié J., Casals N., Puisac B.; Garcia Hegardt F.Molecular Basis of 3-hydroxy-3methylglutaric aciduria. Mini-Review per invitació del Journal of Physiology and Biochemistry (2003)

Dr  Ernest Giralt Lledó

L. Crespo, G. Sanclimens, M. Royo, E. Giralt, F. Albericio. Branched poly-proline peptides: an efficient new approach to the synthesis of repetitive branched peptides. Eur. J. of Org. Chem. (amb portada per invitació) (in press).

L. Crespo, G. Sanclimens, B. Montaner, R. Pérez- Tomás, M. Royo, M. Pons , E. Giralt, F. Albericio. Peptide dendrimers based on polyproline helices. J. Am. Chem. Soc. (in press).

Dr  Daniel Grinberg Vaisman

Dr  Amparo Chabás Bergón

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, Molecules and Disease 26: 409-416, 2000.

Chabás A, Montfort M, Martinez-Campos M, Díaz A, Coll MJ, Grinberg D & Vilageliu L. Mutation and haplotype Analyses in 26 Spanish Sanfilippo Syndrome type A patients: possible single origin for 1091del C mutation. American Journal of Medical Genetics 100: 223-228, 2001.

Rodríguez-Marí A, Díaz-Font A, Chabás A, Pastores GM, Grinberg D and Vilageliu L. New insights into the origin of the Gaucher disease causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A and the ITG6.2 polymorphisms. Blood Cell Mol Dis, 27:950-959, 2001.

Grinberg D., Chabás A., Cormand B., Gort L., Montfort M., Díaz-Font A. & Vilageliu L. Molecular basis of Gaucher disease Recent Res. Devel. Human Genet, 1: 223-235, 2002 

Díaz-Font A., Cormand B., Blanco M., Chamoles N., Chabás A., Grinberg D. & Vilageliu L. Gene rearrangements in fue glucocerebrosidase-metaxin regían giving rige to disease-causing mutations and polymorphisms. Analysis of25 RecNcil alleles from Gaucher disease patients. Hum Genet, 112:426-429, 2003

Díaz-Font A., Cormand B., Chabás A., Vilageliu L. & Grinberg D. Unseccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease Blood Cell Mol Dis, 31:183-186, 2003 

Montfort M., Chabás A., Vilageliu L. & Grinberg D. Functional analysis of 13 mutant alleles idntified in Gaucher disease patients: pathogenic changes and "modifier" polymorphisms.Hum Mutat, 23:567-575, 2004 

Montfort M., Garrido E, Hopwood JJ, Grinberg D, Chabás A. & Vilageliu L. Expression and functional characterization ofhuman mutant sulfamidases in insect cells Mol Genet Metabol (in press)

Literatura científica

Dr  Alfons Macaya Ruiz

De Torres C, Munell F, Roig M, Reventos J, Macaya A. Naturally occurring cell death during postnatal development of rat skeletal muscle. Muscle Nerve. 2002;26:777-83.

De Torres C, Munell F, Roig M, Macaya A. The pattern of DNA fragmentation in pediatric neuromuscular disorders .Rev Neurol. 2000;30:901-6.

C de Torres, M Roig, A Macaya. Bax overexpression in naturally-occurring cell death and X-ray induced PCD in rat developmental skeletal muscle. Brain Dev 1998;20:351.

De Torres C., Munell F., Roig M., Macaya A. Differential Gene Expression in Rat Depeloping Skeletal Muscle Following Radiation-Induced Cell Death.  Muscle Nerve,  (submitted)

Dr  Ricard Marcos Dauder

X. Bardina, L. Fernàndez, E. Piñeiro, J. Surrallés i A. Velázquez. Mathematical models to study subtoxic concentrations for some standard mutagens in three colon cancer cell lines. Publicacions del Servei d'Estadística, Universitat Autònoma de Barcelona. 01/2000: 1-14 (2000)

L. Fernàndez, E. Piñeiro, R. Marcos, A. Velázquez,  J. Surrallés. Trans-induction of genetic instability at disease-causing trinucleotide repeat (sent)

Dr  Albert Marín Pérez

Marco T., Asensio O., Bosque M., de Gracia J., Serra C. Home intravenous antibiotics for cystic fibrosis. (2000) (in revision)

Dr  Montserrat Milà Recasens

Milà M, Castellví-Bel S, Sánchez A, Barceló A, Badenas C, Mallolas J, Estivill X. Rare variants in the promoter of the promoter of the fragile X syndrome gene (FMR1).Molecular and Cellular Probes (2000) 14, 115-119

Rifé M, Mallolas J, Castellví-Bel S,  Badenas C, Jiménez D, Milà M. Molecular study of the PAK3 and GDI1 genes in nonsyndromic X-linked mental retardation Spanish patients. American Journal of Medical Genetics 2000, 94: 389-391.

Castellví-Bel S, Fernández-Burriel M, Rifé M,  Jiménez J,  Mallolas J,  Sánchez A, Ramos F, Milà M. * Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles. Human Genetics 2000, 107: 195-196

Badenas C,  Castellví-Bel S,  Volpini V, Jiménez D, Sánchez A, Estivill X, Milà M. Linkage analysis in Spanish families with nonspecific X-linked mental retardation. American Journal of Medical Genetics 2001, 98: 343-347.

Mallolas J, Duran M, Sánchez A, Jiménez D, Castellví-Bel S, Rifé M, Milà M. Implications of the FMR1 gene in menopause: study of 147 Spanish women. Menopause 2001, 8: 106-110.

M Rifé, J Mallolas, C Badenas, B Tazón, M Rodríguez Miguélez, T Pàmpols, A Sánchez, Milà M Pilot study for the neonatal screening of fragile X syndrome. Prenatal Diagnosis (2002) 22: 459-462

Mallolas J, Milà M Síndrome del cromosoma X frágil: Aspectos ginecológicos.Menopausia precoz . Diagnóstico Preimplantatorio. Revista de Neurología (2001) 33:S20-S24

Mallolas J, Duran M, Sanchez A, Jimenez D, Castellví S, Rifé M y Milà M. Implications of the FMR1 gene in menopause: study de 147 Spanish women. Menopause 8:106-110

Duran, J. Mallolas, M. Rifé, S. Castellví D. Jiménez, A. Sánchez y M. Milà Elevada incidencia de premutaciones en el gen FMR1 en mujeres españolas con fallo ovárico prematuro.Progresos de Obstetricia y Ginecología (2001) 44:261 -266

Rifé M., Nadal A., Milé': I M, Willemsen R Inmunohistochemical FMRP studies in full mutated female foetus. Am J Med Genet (2002) (sotmès)

Rifé M., Badenas C.,Mallolas   J., Jiménez L., Cervera R., Maya A., Glover G., Rivera F., Milà M., 3First Fragil X screening in 5000 consecutive newborn males. Genet Test (2002) (accepted)

Dr  Marc Miravitlles Fernández

Costa X, Jardi R, Rodriguez F, Miravitlles M, Cotrina M, Gonzalez C, Pascual C, Vidal R. Simple method for alpha1-antitrypsin deficiency screening by use of dried blood spot specimens. Eur Respir J 2000; 15: 1111-1115.

Rodriguez-Frias F, Gonzalez C, Costa X, Campos F, Cotrina M, Jardi R, Miravitlles M, Vidal R. Screening for polymorphisms in exon 5 of the glutathione S-transferase P1 gene. Thorax 2000; 55: 535-536.

Rodriguez F, Jardi R, Costa X, Juan D, Galimany R, Vidal R, Miravitlles M. Detection of polymorphisms at exons 3 (Tyr113-->His) and 4 (His139-->Arg) of the microsomal epoxide hydrolase gene using fluorescence PCR method combined with melting curves analysis. Anal Biochem 2002; 308:120-126.

Vilà S, Miravitlles M, Campos Añón F, De la Roza C, Segura R, Morell F, Vidal R. La interleucina 6 como mediador de inflamación sistémica en enfermos con déficit de alfa-1-antitripsina. Arch Bronconeumol 2002; 38: 263-266.

Rodriguez F, Jardi R, Costa X, Cotrina M, Galimany R, Vidal R, Miravitlles M. Rapid screening for alpha1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood specimens. Am J Respir Crit Care Med 2002;166: 814-817.

De la Roza C, Costa X, Vidal R, Vilà S, Rodríguez-Frías F, Jardí R, Miravitlles M. Programa de cribado para el déficit de alfa-1-antitripsina en pacientes con EPOC mediante uso de gota de sangre en papel secante. Arch Bronconeumol 2003; 39: 8-12.

Miravitlles M., Vila S., Jardí R., de la Roza C., Rodríguez-Frías F., Vidal R., Emphysema due to alpha-1-antitrypsin deficiency: familial study of the Ybarcelona variant. Chest 2003 (in press).

Rodríguez F., de la Roza C., Jardí R., Galimany R., Vidal R., Miravitlles M., Glutathione S-transferase P1 (GSTP1) genetic polymorphisms and alpha-1-antitrypsin deficiency and usual COPO. Am J Respir Crit Care Med 2003 (in revision).

Dr  Pura Muñoz Cánoves

Miralles F, Ron D, Baiget M, Félez J, Muñoz-Cánoves P. Differential regulation of urokinase-type plasminogen activator expression by basic fibroblast growth factor and serum in myogenesis. Requirement of a common mitogen-activated protein kinase pathway.J. Biol. Chem. 273:2052-2058, 1998.

Miralles F, Ibáñez-Tallón I, Parra M, Crippa M, Blasi F, Besser D, Nagamine Y, Muñoz-Cánoves P. Transcriptional regulation of the murine urokinase-type plasminogen activator gene in skeletal myoblasts.Thromb. Haemost. 81:767-74, 1999

Lluís F, Roma J, Suelves M, Parra M, Aniorte G, Gallardo E, Illa I, Hughes SM, Carmeliet P, Roig M, Muñoz-Cánoves P. "Urokinase-type plasminogen activator is required for efficient skeletal muscle regeneration in vivo". Blood 97: 1703-1711, 2001

Suelves M, López-Alemany R, Lluís F, Aniorte G, Serrano E, Parra M, Carmeliet P, Muñoz-Cánoves P.  "Plasmin activity is required for myogenesis in vitro and skeletal muscle regeneration in vivo". Blood 99: 2835-2844, 2002

Parra M, LIuís F, Miralles F, Caelles C, Muñoz-Cánoves P. The cJun N-terminal kinase (JNK) signaling pathway mediates induction of the proteolytic enzyme uP A .. by the alkylating agent MNNG .Blood 96:1415-1424, 2000.

Roma J., Suelves M, Lluís F., Serrano E., Munell F., Roig M., Muñoz-Gánoves P. uPA deficiency exacerbates mdx dystrophinopathy. Journal of Cell Biology, April 2003 (submitted)

Dr  Joaquima Navarro

Sánchez-García JF, Benet J, Egozcue J, Navarro J. Meiotic segregation analysis in oocytes from mice carriers of Rb(8;17) using WCP. Cytogenet Cell Genet 85:48 (1999)

Sánchez-García JF., Benet J., Gutiérrez-Mateo C., Monrós E., Calafell JM., Egozcue J., Navarro J. Aplicació de la tècnica de PEP-PCR en cèl·lules aïllades pel diagnóstic pre-concepcional de la Fibrosi Quística."16e congrés de metges i biòlegs de llengua catalana" Barcelona (2000)

Sánchez-García JF., CEM de Die-Smulders, Weber JF., Jetten AGP.,  Loneus WH., Hamers AJH., Engelen JJM. De Novo Duplication (5)(q31.3q33.3): Report of a Patient and Characterization of the Duplicated Region Using

Microdissection and FISH. American Journal of Medical Genetics 100(1):56-61(2001)

Navarro J, Benet J, Durban M, Sánchez-García JF, Pujol A, Gutiérrez C, Egozcue J. Preconceptional Genetic Diagnosis. The perinatal medicine of the new millenium. (WAPM) 158-166 Monduzzi Editore (2001)

Sánchez-García JF, Benet J, Gutiérrez-Mateo C, Monrós E, Pons MC,  Grossmann M, Calafell JM, Company MD, Márquez C, Carrera M, Egozcue J,  Navarro J. PEP-PCR application in single cells for Cystic Fibrosis multiple mutation detection. abstract en Human Reproduction, 2001

Sánchez-García JF, Benet J, Gutiérrez-Mateo C, Monrós E, Pons MC, Grossmann M, Calafell JM, Company MD, Márquez C, Carrera M, Egozcue J, Navarro J. A Method for Cystic Fibrosis multiple mutation detection in Preimplantation Genetic Diagnosis " Annales de Génétique. 44 supp. 1 (2001)

Durban M, Benet J, Boada M, Fernández E, Calafell JM, Lailla JM, Sánchez-García JF, Pujol A, Egozcue J, Navarro J. PGD in carriers of balanced Robertsonian and reciprocal translocations using first polarbody analysis. Human Reproduction Update, 7 (6) 591-602 (2001)

Sánchez-García JF, Benet J, Gutiérrez-Mateo C, Monrós E, Séculi JL., Pons MC, Grossmann M, Calafell JM, Company MO, Márquez C., Carrera M., Egozcue J, Navarro J. A Diagnóstico genético preimplantacional mediante análisis del primer corpusculo polar: detección de las 31 mutaciones del gen CFTR más frecuentes en Europa del sur. Revista de la Societat de Fibrosi Quistica Catalana (in press)

Dr  Virginia Nunes Martínez

Dr  Manuel Palacín Prieto

Dr  Pedro Barceló Reverte

Torrents D, Mykkänen J, Pineda M, Feliubadaló L, Estévez R, De Cid R, Sanjurjo P, Zorzano A, Nunes V, Huoponen K, Reinikanien A, Simell O, Savontaus MJ, Aula P, Palacín M. Identification of SLC7A7, encoding y+ LAT-1, as the lysinuric protein intolerance gene.Nature Genetics (1999) 21:293-297.

Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V and The International Cystinuria Consortium. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b o,+ AT) of rBAT.Nature Genetics (1999) 23:52-57.

Group A: Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X,  Nunes V. Group B: Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras 4. Group C: Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Rizzoni G, Zelante L. Group D: Bassi MT, George AL, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Group E: Reig N, Fernández F, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M. Non-Type I Cystinuria caused by mutations in SLC7A9, coding for a subunit (bo,+AT) of rBAT. Nature Genet. 23, 52-57, 1999. (I.F.: 40.4)

Palacín M, Bertran J, Zorzano A. Heteromeric amino acid transporters explain inherited aminoacidurias Current Opinion in Nephrology and Hypertension 9, 547-553, 2000.

L. Feliubadaló, l. Bisceglia, M. Font,  L. Dello Strologo, E. Beccia, M. Arslan-Kirchner, B. Steinmann, L. Zelante, X. Estivill, A. Zorzano, M. Palacín, P. Gasparini, V. Nunes. Recombinant families locate the gene for Non-Type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1. Genomics  60: 362-365 (1999).

J. Purroy, L. Bisceglia,  J. Jaeken J, P. Gasparini, M. Palacín, V. Nunes. Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR. Hum. Mut. 15: 373-379 (2000).

L. Bisceglia , J. Purroy, M. Jimenez-Vidal, A. D'Adamo, F. Roussaud,  E. Beccia, R.Penza, GF. Rizzoni, M. Ga lluci, M. Palacin, P. Gasparini,  V. Nunes,  L. Zelante. Cystinuria type I: identification of seven new mutations in SLC3A1  Kidney International . 59: 1250-1256 (2001).

M. Font and The International Cystinuria Consortium. Functional analysis of mutations in SLC7A9 and genotype/phenotype correlation in non-Type I cystinuria. Hum. Mol. Genet.  10:305-316 (2001).

F. Rousaud, S. Gracia, M. Palacín, V. Nunes, F. Millán, A. Oliver, A. Rousaud. Cistinuria y litiasis renal de cistina. Estudio y enfoque terapéutico. Arch. Esp. de Urol. 54: 989-996, (2001).

F. Rousaud, S. Gracia, F. Millán, A. Oliver, A. Rousaud.. Terapéutica médica en la enfermedad litiásica . Act. Fund. Puigvert, 20: 88-92, (2001).

F. Rousaud, S. Gracia, F. Millán, A. Rousaud. Litogénesis de los cálculos de cistina. Act. Fund. Puigvert, 20: 192-200, (2001).

F. Rousaud, F. Millán, F. Izquierdo, F. Rousaud, H. López, J. Martí, P.Torre. Análisis y evolución de la litiasis residual tras la aplicación renal de ondas de choque. Arch. Esp. de Urol, 54: 1009-1016  (2001).

M Palacín, P Goodyer, V Nunes, P Gasparini. Cystinuria in Scriver CR, Beaudet AL, Sly WS and Valle D (Eds). Metabolic and Molecular bases of Inherited Disease. McGraw-Hill.pg. 4909-4932 (2001). 

Palacín M, Borsani G, Sebastio G.. The molecular  bases of cystinuria and lysinuric protein intolerance. Current Opinion in Genetics & Development 11: 328-335 (2001).

Palacín M Fernández E, Chillarón J, Zorzano A. The amino acid transport system b o,+ and cystinuria. Molecular Membrane Biology, 18: 21-26 (2001).

Chillarón J, Roca R, Valencia A, zorzano A, Palacín M. Heteromeric amino acid transporters:biochemistry, genetics and physiology. Am. J. Physiol Renal Physiol 281: F995-F1018 (2001)

F. Rousaud. Consideraciones acerca de la cistinuria y litiasis renal de cistina.. Act. Fund. Puigvert, 21: 18-19 (2002).

L. Dello Strologo, E. Pras, C. Pontesilli, E. Beccia, F. Ricci-Barbini, L. De Sanctis, A. Ponzone, M. Gallucci, L. Bisceglia, L. Zelante, M. Jimenez, M. Font, A. Zorzano, F. Rousaud, V. Nunes, P. Gasparini, M. Palacín, G. Rizzoni.. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J. Am. Soc. Nephrol. . 13: 2547-2553 (2002).

N. Reig J.Chillarón, p Bartocioni, E Fernández, A. Bendahan, A. Zorzano, B. Kanner, M.Palacín, J. Bertrán. The ligth subunit of system b0,+ is fully functinal in the absence of the heavy subunit. EMBO J. 21:4906-4914 (2002).   

M. Palacín .The family ofheteromultimeric amino acid transporters reveals aminoaciduria genes. Nephrol. Dial. Transglant. 15 (Suppl.6), 5-8, 2000

Dr  Rafael Oliva Virgili

Sánchez M, Bruguera M, Quintero E, Barrio Y, Mazzara R, Rodés J and Oliva R. Hereditary Hemochromatosis in Spain". Genetic Testing, 4, 171-176. (2000)

Sánchez M, Bruguera M, Rodés J and Oliva R. Complete characterization of the 3' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms. Blood Cells, Molecules, and Diseases 27, 35-43 (2001)

Sánchez M, Bruguera M, Quintero E, Barrio Y, Mazzara R, Rodés J and Oliva R. Hereditary Hemochromatosis in Spain. Genetic Testing, 4,171-176., 2000.

Sánchez M, Bruguera M, Rodés J and Oliva R. Complete characterization ofthe 3' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms. Blood Cells, Molecules, and Diseases 27 I 35-43, 2001

M Sánchezl, M Villa, M Ingelmo, C Sanz, M Bruguera, C Ascaso, R Oliva. Population screening for hemochromatosis: a study in 5370 Spanish blood donors. Journal of Hepatology 38 (2003) 745-750

Oliva R., Sánchez  M.,  Sanz C., Pereira A., Rodés J., Bruguera M., Cost-effectiveness analysis for population screening for hemochromatosis in Spain. ( in preparation). (2003)

Dr  César Picado Vallés

Dr  Emili Gelpí Monteys

Dr  Antonio Moreno Galdó

Roca-Ferrer J., Pujols L., Gartner S., Moreno A., Pumarola F., Mullol J., Cobos N., Picado C. HUpregulation of COX-1 in nasal polyps in cystic fibrosis. Thorax 2006; 6:592-596. doi: 10.1136/thx.2004.039842

Dr  Manuel Roig Quilis

Torres C de, Munell F, Roig M, Macaya M. Análisis del patrón de fragmentación del ADN en enfermedades neuromusculares pediátricas. Rev.Neurol. 2000; 30 (10); 901-906.

Fargas A, Roma J, Roig M. Regeneración muscular: efecto de la lámina basal, el tamaño de la lesión y la respuesta inflamatoria en el ratón C57BL10/ScSn. Rev Neurol. 2002;16-28;34(4):328-38.

Lluis F, Roma J, Suelves M. et al. Urokinase-dependent plasminogen activation is required for efficient skeletal muscle regeneration in vivo. Blood. 2001 15;97(6):1703-11.

Torres C de, Munell F, Roig M, Reventós J, Macaya A. Naturally-occurring cell death during postnatal development of rat skeletal muscle. Muscle Nerve 2002;

Fargas A, Roma J, Gratacos M, Roig M. Distribution and effects of a single intramuscular injection of India Ink in mice. Ann Anat. 2003; 185:1-5

Roig M., Munell F., Fargas A., Roma J. Longitudinal pathologic study of the gastrocnemius muscle group in the mdx-mice. Acta Neuropathologica (submitted).

Roig M., Roma J., Munell F., Fargas A. Muscle regeneration following glicerol injection mimics mdx mice egenerative-regenerative groups. Acta Neuropathologica (submitted).

Roma J., Munell F., Fargas A., Roig M. Pathological changes in the gastrocnemius muscle of the mdx-mice correlate wih utrophin and beta-dystroglycan expression. Muscle and Nerve. (submitted)

Roma J., Muñoz P., Roig M., et al. Upa deficiency promotes mucular dystrophy in mdx mice. Journal of Cell Biology. (submitted)

Dr  Carles Solsona Sancho

Boadas E, Aleu J, Pujol G, Martín-Satué M, Marsa J, Solsona C. ATP Crossing the Cell Plasma Membrane Generates an Ionic Current in Xenopus Oocytes.The Journal of Bioloogical Chemistry vol.. 275, No.27 p.p. 20268-20273, 2000-07-12(c) 2000

Reigada D, Diez-Perez I, Gorostiza P, Verdaguer A, Gomez de Aranda I, Pineda O, Vilarrasa J, Marsal J, Blasi J, Aleu J, Solsona C. Control of neurotransmitter release by an internal gel matrix in synaptic vesicles. Proc Natl Acad Sci U S A. 2003 Mar 18;100(6):3485-90.

Aleu J, Martin-Satue M, Navarro P, Lara IP, Bahima L, Marsal J, Solsona C. Release of ATP induced by hypertonic solutions in Xenopus oocytes. J Physiol. 2003 Feb 15;547(Pt 1):209-19.

Escalada A, Aleu J, Bodas E, Martin-Satué M, Felipe A, Marsal J, Gómez de Aranda I, Pujol G, Solsona C. ATP release from the electric organ of Torpedo and from Xenopus oocytes. Drug Dev Res. 2001; 52:34-43.

Aleu J, Blasi J, Solsona C, Marsal J.  Calcium-dependent acetylcholine release from Xenopus oocytes: simultaneous ionic currents and acetylcholine release recordings. Eur J Neurosci. 2002 Oct;16(8):1442-8.

Dr  Eduardo Fidel Tizzano Ferrari

Cuscó I, Barceló MJ, Bussaglia E, Baiget M, Tizzano E. Characterization of SMN hybrid genes in Spanish SMA patients evidence of de novo and compound heterozygous cases.Am J Hum Genet 65: A291 (1999)

Tizzano E, Rojas R, Lleó A, Barceló MJ, Cuscó I, Armán M, Illa I, Baiget M. Estudio de la asociación de la neuropatía motora multifocal (NMM) y la enfermedad de 2a motoneurona (LMND) con la deleción homocigota del gen SMN centromérico.Neurología 14: 511 (1999)

Cuscó I, Barceló MJ, Martín Y, Hernandez -Chico C, Bussaglia E, Baiget M, Tizzano E.

Study of hybrid SMN genes in Spanish SMA patients. Eur J Hum Genet (2000). 8, supplement 1:144 

Tizzano EF, Cuscó I, Barceló MJ, Baiget M. Quantitative analysis of the SMN1 gene in SMA: application for diagnosis of affected cases without homozygous deletion and for carrier and prenatal diagnoses. Am J Hum Genet (2000) sup 2, vol 67: 251.

Tizzano EF, Cuscó I, Barceló MJ, Baiget M. Diagnóstico de AME sin deleción homocigota del gen SMN1: utilidad del estudio cuantitativo. Neurología (2000), 15:442.

Tizzano E, Baiget M. Bases moleculares de la atrofia muscular espinal: el gen SMN. Neurología, 15:393-400, (2000) 

Cuscó I, Barceló MJ, Del Río E, Martín Y, Hernández -Chico C, Baiget M, Tizzano. EF. Characterization of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases. Human Genetics (108:222-229, 2001)

E. Tizzano, M. Baiget. Molecular Bases of spinal muscular atrophy: the survival motor neuron gene. Contributions to Science, 2:35-42 (2001)

K. Zerres, S Rudnik- Schöneborn, M de Visser, E Tizzano, Y. Poortman. Spinal Muscular Atrophy: Wanda Workshop. Acta Myologica XX: 61-68 (2001)

E.Tizzano, I Cuscó, MJ Barceló, J Parra, M. Baiget. Should gamete donors be tested for spinal muscular atrophy?"Fertility and Sterility 77:409-411, (2002) 

C. Soler, I. Ferrer, I. Gich, M. Baiget, E. F. Tizzano. Neuronal death is enhanced and begins during fetal development in type I spinal muscular atrophy spinal cord. Brain 125 (7) 125:1-11 (2002)

R. Rojas, E. Tizzano, I. Cuscó, E. Gallardo, M. J. Barceló, I. de Andrés, P. Larrodé, J.F. Martí-Massó, J.A. Martínez-Matos, M. Povedano, B. Rallo, S. Serrano, M. Baiget, and I. Illa. The absence of the SMN2 gene may play a role in multifocal motor neuropathy. Neurology 59:1112-1113 (2002).

I.Cuscó, M.J. Barceló, C. Soler ,J. Parra, M. Baiget, E. Tizzano. Carrier and prenatal diagnoses in relatives of spinal muscular atrophy patients. British Journal of Obstetrics and Gynecology 109: 1244-1249 (2002)

I. Cuscó, MJ. Barceló, M. Baiget and E. F. Tizzano. Implementation of SMA carrier testing in genetic labs: comparison of two methods for quantifying the SMN1 gene. Human Mutation 20:452-459 (2002)

J. Gamez, M.J. Barceló, X. Muñoz, F. Carmona, I. Cuscó, M. Baiget, C. Cervera, E. Tizzano. Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients. Neurology, 59:1456-1460 (2002).

E. Tizzano. Desarrollo de modelos animales para el estudio de las enfermedades genéticas: ratones transgénicos y knock out. Genética Humana: Los retos del siglo XXI"

E. Tizzano, Y. Martín, MJ Barceló, l. Cuscó, M. Cornet, E. Bussaglia, A. Valero, C. Hernández -Chico, C. Soler, M. Baiget. Molecularpathology ofthe SMN and H4F5 genes in Spanish SMA patients. Am J Hum Genet 65: A113 (1999)

I Cuscó, MJ Barceló, E. Bussaglia, M. Baiget, E. Tizzano. Estudio de conversión génica del gen SMN en pacientes con atrofia espinal. Neurología 14: 475 (1999)

Soler C., Ferrer I., Alvarez JL., Baiget M., Tizzano EF. Down-regulation of Bcl2 proteins in type I SMA motor neurons during fetal development. Journal of Neuropathology and Experimental Neurology, (in press) 62 (4), 2003

Soler C., Cuscó I., López E., Ferrer I., Clúa A., Baiget M., Tizzano EF. Choline Acetyl Transferase expression in fetal SMA spinal cord (submitted) 2003.

Cuscó I., López E., Soler C ., Baiget M., Tizzano E. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with 430de14, the most frequently found subtle mutation in the SMN1 gene. (submitted) 2003

Dr  Víctor Volpini Bertran

Pujana MA, Corral J, Gratacòs M, Combarros O, Berciano J, Genís D, Banchs I, Estivill X, Volpini V and the Ataxia Study Group. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases.Human Genetics (1999) 104:516-522.

O. Combarros, MD; J. Infante, MD; M. López-Hoyos, MD; M. J. Bartolomé, MD; J. Berciano, MD; J. Corral, TS; and V. Volpini, MD. Celiac disease and idiopathic cerebellar ataxia (2000). NEUROLOGY 54: 2346.

Gaspar C, Lopes-Cendes I, Hayes S, Goto J, Arvidsson K, Dias A, Silveira I, Maciel P, Coutinho P, Lima M, Zhou YX, Soong BW, Watanabe M, Giunti P, Stevanin G, Riess O, Sasaki H, Hsieh M, Nicholson GA, Brunt E, Higgins JJ, Lauritzen M, Tranebjaerg L, Volpini V, Wood N, Ranum L, Tsuji S, Brice A, Sequeiros J, Rouleau GA. Acestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study. (2001) American Journal of Human Genet 68(2):523-528

T.Matsuura, MD, LPW Ranum, PhD, VVolpini, MD, PhD, M Pandolfo, MD, H Sasaki, K Tashiro, K Watase, MD, PhD, HY Zoghbi, MD, T Ashizawa, MD. Spinocerebellar ataxia type 10 is rare in populations other than Mexicans. (2002). NEUROLOGY. 58:983-984.

Dr  Antonio Zorzano Olarte

M. Carrasco, J. Canicio, M. Palacín, A. Zorzano, P. Kaliman. Identification of Intracellular Signaling Pathways that Induce Myotonic Dystrophy Protein Kinase Expression during Myogenesis. Endocrinology. 143, 3017-3025, 2002.

Zorzano A., Kaliman P., Guma A., Palacín M. Intracellular signals involved in the effects of insulin-like growth factors and neuregulins on myofiber formation. Cellullar Signalling 2003 (in press)