B. Pérez
发表
P. Guldberg,
G. Bertorelle,
F. Calì,
2003,
Human mutation.
D. Grinberg,
L. Vilageliu,
B. Pérez,
2014,
Nucleic acid therapeutics.
E. Richard,
M. Ugarte,
B. Pérez,
2016,
PloS one.
E. Richard,
M. Murphy,
B. Pérez,
2017,
Molecular genetics and metabolism.
C. Pérez-Cerdá,
M. Ugarte,
R. Artuch,
2011,
Journal of Inherited Metabolic Disease.
L. Sánchez-Pulido,
C. Pérez-Cerdá,
M. Ugarte,
2005,
Biochimica et biophysica acta.
M. Couce,
B. Pérez,
L. Desviat,
2013,
Journal of Human Genetics.
M. Martínez-Pardo,
M. Ugarte,
M. J. García,
2005,
Molecular genetics and metabolism.
M. Ugarte,
B. Pérez,
L. Desviat,
2006,
FEBS letters.
B. Merinero,
M. Ugarte,
A. Gámez,
2018,
Biochimica et biophysica acta. Molecular basis of disease.
M. Ugarte,
A. Gámez,
B. Pérez,
2000,
The Journal of Biological Chemistry.
E. Richard,
B. Pérez,
L. Desviat,
2017,
Journal of Inherited Metabolic Disease.
M. Ugarte,
A. Gámez,
B. Pérez,
2020
.
C. Pérez-Cerdá,
M. Ugarte,
A. Gámez,
2020,
Biochimica et biophysica acta. Molecular basis of disease.
E. Richard,
M. Ugarte,
B. Pérez,
2022,
Biochimica et biophysica acta. Molecular basis of disease.
E. Richard,
C. Pérez-Cerdá,
A. Ribes,
2009,
Human mutation.
E. Richard,
M. Ugarte,
A. Álvarez-Barrientos,
2007,
The Journal of pathology.
M. Ugarte,
B. Pérez,
L. Desviat,
2003,
Methods in molecular biology.
M. Ugarte,
B. Pérez,
L. Desviat,
1995,
Human mutation.
C. Pérez-Cerdá,
M. Couce,
A. Fernández-Marmiesse,
2016,
Journal of Human Genetics.
M. Stojiljkovic,
S. Pavlovic,
Belén Pérez,
2018,
Biochemical Genetics.
M. Couce,
F. Sánchez-Valverde,
A. Fernández-Marmiesse,
2016,
Journal of Human Genetics.
M. Couce,
A. Fernández-Marmiesse,
B. Pérez,
2013,
Gene.
M. Ugarte,
M. Stojiljkovic,
S. Pavlovic,
2009,
The protein journal.
M. Martínez-Pardo,
M. Ugarte,
B. Pérez,
2007,
Clinica chimica acta; international journal of clinical chemistry.
M. Martínez-Pardo,
M. Ugarte,
M. J. García,
2004,
Molecular genetics and metabolism.
M. Ugarte,
B. Pérez,
L. Desviat,
1998,
Human mutation.
M. Ugarte,
B. Pérez,
L. Desviat,
1994,
Acta paediatrica (Oslo, Norway : 1992). Supplement.
P. Lapunzina,
C. Pérez-Cerdá,
B. Merinero,
2013,
Epilepsia.
P. Lapunzina,
J. Nevado,
C. Pérez-Cerdá,
2012,
Molecular genetics and metabolism.
P. Lapunzina,
J. Nevado,
C. Pérez-Cerdá,
2012
.
C. Pérez-Cerdá,
B. Merinero,
M. Martínez-Pardo,
2008,
Journal of Inherited Metabolic Disease.
M. Ugarte,
S. Ramón-Maiques,
A. Gámez,
2022,
Human mutation.
I. T. de Almeida,
X. de la Cruz,
C. Riera,
2018,
Orphanet Journal of Rare Diseases.
V. Stoppioni,
J. Vockley,
B. Burton,
2020,
American journal of human genetics.
M. Ugarte,
L. Chabraoui,
B. Pérez,
2010,
Clinical biochemistry.
M. Ugarte,
B. Pérez,
L. Desviat,
1997,
Human mutation.
M. Ugarte,
C. Harding,
B. Thöny,
2014,
Molecular therapy. Nucleic acids.
C. Pérez-Cerdá,
M. Ugarte,
B. Pérez,
2004,
Molecular genetics and metabolism.
C. Pérez-Cerdá,
M. Martínez-Pardo,
M. Ugarte,
2019,
Clinical genetics.
W. Wiszniewski,
M. Ugarte,
B. Pérez,
2000,
Acta biochimica Polonica.
M. Martínez-Pardo,
M. Ugarte,
M. Couce,
1997,
European journal of human genetics : EJHG.
M. Ugarte,
R. Giugliani,
R. Pires,
1996,
Human mutation.
H. Nicolini,
M. Ugarte,
N. Chamoles,
1993,
Human molecular genetics.
Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia
E. Richard,
B. Pérez,
L. Desviat,
2021,
International journal of molecular sciences.
E. Richard,
C. Pérez-Cerdá,
B. Merinero,
2017
.
E. Richard,
M. Ugarte,
A. Gámez,
2010,
Biochimica et biophysica acta.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2019,
European Journal of Human Genetics.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2011,
neurogenetics.
C. Pérez-Cerdá,
M. Ugarte,
B. Pérez,
2011,
Molecular genetics and metabolism.
C. Pérez-Cerdá,
M. Ugarte,
B. Pérez,
2003,
Biochimica et biophysica acta.
C. Pérez-Cerdá,
M. Ugarte,
B. Pérez,
2002,
Biochimica et biophysica acta.
M. Ugarte,
B. Pérez,
L. Desviat,
1993,
Human Genetics.
M. Ugarte,
B. Pérez,
L. Desviat,
1992,
Human Genetics.
R. Stevens,
R. Matalon,
Aurora Martínez,
2004,
Proceedings of the National Academy of Sciences of the United States of America.
E. Richard,
C. Pérez-Cerdá,
M. Ugarte,
2019,
Translational research : the journal of laboratory and clinical medicine.
R. Stevens,
Aurora Martínez,
M. Ugarte,
2004,
Human mutation.
M. Ugarte,
B. Pérez,
L. Desviat,
1996,
Journal of Inherited Metabolic Disease.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2019,
Journal of clinical medicine.
G. Matthijs,
C. Pérez-Cerdá,
M. Ugarte,
2015,
Clinical genetics.
M. Ugarte,
D. Grinberg,
B. Pérez,
2010,
Journal of Inherited Metabolic Disease.
C. Pérez-Cerdá,
M. Ugarte,
B. Pérez,
2009,
Molecular genetics and metabolism.
M. Ugarte,
B. Pérez,
L. Desviat,
1997,
American journal of human genetics.
M. Ugarte,
B. Pérez,
L. Desviat,
1999,
Human mutation.
E. Richard,
B. Pérez,
L. Desviat,
2022,
Methods in molecular biology.
M. Ugarte,
M. L. Couce,
R. Yahyaoui,
2022,
International journal of molecular sciences.
T. K. Doktor,
Ulrika S S Petersen,
L. L. Holm,
2022,
Nucleic acid therapeutics.
M. Ugarte,
B. Pérez,
L. Desviat,
2018,
JIMD reports.
E. Richard,
C. Pérez-Cerdá,
A. Ribes,
2000,
European Journal of Human Genetics.
Aurora Martínez,
C. Pérez-Cerdá,
M. Ugarte,
2017,
Human mutation.
M. Ugarte,
B. Thöny,
B. Pérez,
2011,
Human mutation.
E. Richard,
C. Pérez-Cerdá,
M. Ugarte,
2019,
Stem cell research.
E. Richard,
C. Pérez-Cerdá,
M. Ugarte,
2019,
Stem cell research.
M. Ugarte,
B. Pérez,
L. Desviat,
2003,
Methods in molecular biology.
E. Richard,
M. Ugarte,
B. Pérez,
2014,
Biochemical and biophysical research communications.
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia
M. Ugarte,
B. Pérez,
L. Desviat,
2012,
Human mutation.
L. Armengol,
X. Estivill,
G. Escaramís,
2013,
European Journal of Human Genetics.
M. Stojiljkovic,
B. Zukic,
S. Pavlovic,
2014,
Journal of pediatric endocrinology & metabolism : JPEM.
S. Rodríguez de Córdoba,
J. Esparza-Gordillo,
C. Pérez-Cerdá,
2003,
Molecular genetics and metabolism.
M. Ugarte,
B. Thöny,
J. Häberle,
2015,
PloS one.
C. Pérez-Cerdá,
M. Ugarte,
B. Pérez,
2003,
Molecular genetics and metabolism.
J. Hoenicka,
E. Richard,
C. Pérez-Cerdá,
1998,
American journal of human genetics.
C. Pérez-Cerdá,
M. Ugarte,
A. Gámez,
2018,
Clinical genetics.
C. Pérez-Cerdá,
M. Ugarte,
M. Palacín,
2013,
Molecular genetics and metabolism.
M. Ugarte,
B. Pérez,
L. Desviat,
2012,
Molecular Syndromology.
E. Richard,
Á. Gil-Izquierdo,
A. Logan,
2016,
Free radical biology & medicine.
Belén Pérez,
Magdalena Ugarte,
M. Ugarte,
2003,
Human mutation.
M. Martínez-Pardo,
M. Ugarte,
A. Gámez,
1999,
European Journal of Human Genetics.
M. Prata,
P. Jordan,
V. Gonçalves,
2015,
Biochimica et biophysica acta.
E. Richard,
C. Pérez-Cerdá,
B. Pérez,
2015
.
E. Bermejo,
M. Ugarte,
E. Mansilla,
2006,
American journal of medical genetics. Part A.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2018,
JIMD reports.
M. Ugarte,
B. Pérez,
L. Desviat,
2004,
Human Genetics.
M. Ugarte,
B. Pérez,
L. Desviat,
2012,
Methods in molecular biology.
M. Ugarte,
B. Pérez,
L. Desviat,
2007,
American journal of human genetics.
B. Andresen,
B. Pérez,
L. Desviat,
2018,
PLoS genetics.
Lourdes,
B. Andresen,
B. Pérez,
2018
.
E. Richard,
C. Pérez-Cerdá,
M. Ugarte,
2018,
Molecular genetics and metabolism.
C. Pérez-Cerdá,
M. Ugarte,
M. Couce,
2017,
Human mutation.
A. Pshezhetsky,
M. Prata,
P. Jordan,
2014,
Orphanet Journal of Rare Diseases.
E. Richard,
B. Pérez,
L. Desviat,
2018,
Oxidative medicine and cellular longevity.
D. Cuadras,
C. Pérez-Cerdá,
R. Artuch,
2018,
International journal of molecular sciences.
E. Richard,
B. Merinero,
M. Ugarte,
2009,
Human mutation.
M. Ugarte,
B. Pérez,
L. Desviat,
2012
.
G. Matthijs,
C. Pérez-Cerdá,
M. Ugarte,
2009,
Human mutation.
R. Lubrano,
M. Elli,
B. Pérez,
2013,
Pediatric Nephrology.
M. Ugarte,
B. Pérez,
C. Pedrón‐Giner,
2022,
Journal of clinical medicine.
W. Yue,
S. Banka,
G. Zampino,
2019,
Journal of inherited metabolic disease.
G. Matthijs,
C. Pérez-Cerdá,
M. Ugarte,
2011,
JIMD reports.
C. Pérez-Cerdá,
M. Wajner,
B. Merinero,
2010,
Journal of Inherited Metabolic Disease.
B. Merinero,
M. Ugarte,
B. Pérez,
2005,
Molecular genetics and metabolism.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2016,
Genetics in Medicine.
C. Pérez-Cerdá,
M. Ugarte,
B. Pérez,
2001,
Molecular genetics and metabolism.
E. Richard,
C. Pérez-Cerdá,
M. Ugarte,
1999,
Human mutation.
Mar Alvarez,
M. Ugarte,
J. Ariño,
2022,
Journal of inherited metabolic disease.
Thirteen Years Experience with Selective Screening for Disorders in Purine and Pyrimidine Metabolism
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2014,
Nucleosides, nucleotides & nucleic acids.
Isolated and Combined Remethylation Disorders: Biochemical and Genetic Diagnosis and Pathophysiology
E. Richard,
C. Pérez-Cerdá,
B. Merinero,
2017
.
X. Wu,
M. Ugarte,
D. Leclerc,
2001,
Molecular genetics and metabolism.
E. Richard,
C. Pérez-Cerdá,
M. Ugarte,
1997,
Human Genetics.
C. Pérez-Cerdá,
R. Artuch,
M. Pineda,
2012,
The Cerebellum.
E. Richard,
C. Pérez-Cerdá,
M. Ugarte,
2013,
Journal of Inherited Metabolic Disease.
R. Banerjee,
E. Richard,
B. Merinero,
2015,
Clinical genetics.
E. Richard,
C. Pérez-Cerdá,
M. Ugarte,
2009,
Biochemical and Biophysical Research Communications - BBRC.
E. Richard,
C. Pérez-Cerdá,
M. Ugarte,
2017,
Scientific Reports.
C. Pérez-Cerdá,
M. Ugarte,
C. Ramos,
2008,
Molecular genetics and metabolism.
E. Richard,
M. Ugarte,
B. Pérez,
2013,
Journal of cellular biochemistry.
C. Pérez-Cerdá,
M. Ugarte,
B. Pérez,
2017,
PloS one.
Nenad Blau,
Brian D Marsden,
Sarah Wettstein,
2014,
European Journal of Human Genetics.
B. Pérez,
M. Serrano,
A. Vilas,
2020,
Biochimica et biophysica acta. General subjects.
E. Richard,
C. Pérez-Cerdá,
M. Ugarte,
2017,
Stem cell research.
R. Banerjee,
Aurora Martínez,
B. Merinero,
2013,
Human molecular genetics.
C. Pérez-Cerdá,
M. Ugarte,
B. Pérez,
2014,
Clinical genetics.
M. Ugarte,
R. Lubrano,
C. Carducci,
2013,
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.
Magdalena Ugarte,
M. Ugarte,
S. Mitchell,
2009,
Molecular genetics and metabolism.
R. Banerjee,
E. Richard,
B. Merinero,
2010,
Human mutation.
B. Merinero,
M. Ugarte,
D. Codazzi,
2013,
JIMD reports.
E. Richard,
C. Pérez-Cerdá,
M. Ugarte,
1999,
Biochimica et biophysica acta.
C. Pérez-Cerdá,
M. Ugarte,
B. Pérez,
2006,
Journal of Human Genetics.
C. Pérez-Cerdá,
M. Ugarte,
B. Pérez,
2015,
Human mutation.
C. Pérez-Cerdá,
M. Ugarte,
B. Pérez,
2015
.
D. Morton,
J. Esparza-Gordillo,
C. Pérez-Cerdá,
2001,
American journal of human genetics.
P. Bosco,
A. Piazza,
I. Dianzani,
1997,
Human Genetics.
Aurora Martínez,
M. Ugarte,
R. Artuch,
2020,
Human mutation.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2019,
European Journal of Human Genetics.
C. Amiñoso,
E. Vallespín,
L. Fernández,
2013,
Gene.
E. Richard,
M. Ugarte,
J. Albar,
2006,
Journal of proteome research.
C. Pérez-Cerdá,
M. Martínez-Pardo,
M. Ugarte,
2013,
Journal of Inherited Metabolic Disease.
N. Stence,
K. Haldar,
M. Ugarte,
2022,
Human molecular genetics.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2004,
Prenatal diagnosis.
E. Richard,
M. Ugarte,
B. Pérez,
2009
.
A. Velázquez‐Campoy,
F. del Caño-Ochoa,
S. Ramón-Maiques,
2021,
Journal of inherited metabolic disease.
M. Ugarte,
B. Pérez,
E. Gutiérrez,
2001,
Human mutation.
S. D. Jong,
C. Pérez-Cerdá,
M. Ugarte,
2010,
Journal of Inherited Metabolic Disease.
M. Ugarte,
R. Artuch,
B. Pérez,
2022,
Clinical genetics.
E. Richard,
M. Ugarte,
B. Pérez,
2013,
Journal of cellular biochemistry.
S. Rodríguez de Córdoba,
E. Goicoechea de Jorge,
S. R. Córdoba,
2002,
Journal of medical genetics.
L. Sturiale,
C. Asteggiano,
G. M. Papazoglu,
2021,
Glycoconjugate Journal.
M. Ugarte,
B. Pérez,
L. Desviat,
1994,
Journal of Inherited Metabolic Disease.