B. Pérez-Dueñas
发表
Hagai Bergman,
Dagmar Wieczorek,
Zvi Israel,
2016,
Nature Genetics.
J. Valls-Solé,
R. Artuch,
B. Pérez-Dueñas,
2005,
Journal of Neurology.
A. Roche,
R. Artuch,
À. García‐Cazorla,
2009,
American journal of kidney diseases : the official journal of the National Kidney Foundation.
R. Carrozzo,
F. Tort,
A. Ribes,
2020,
Journal of inherited metabolic disease.
A. Ormazabal,
R. Artuch,
À. García‐Cazorla,
2013,
Developmental medicine and child neurology.
L. Lagae,
A. Vanderver,
K. Devriendt,
2015,
American journal of medical genetics. Part A.
B. Cormand,
F. Sanmartí,
A. Ormazabal,
2010,
Journal of Inherited Metabolic Disease.
R. Artuch,
J. Montoya,
E. López-Gallardo,
2016,
Mitochondrion.
J. González,
G. Parra,
M. Gut,
2022,
The Journal of molecular diagnostics : JMD.
R. Artuch,
A. Mas,
B. Pérez-Dueñas,
2005,
Molecular genetics and metabolism.
M. Pineda,
À. García‐Cazorla,
U. Moog,
2009,
Journal of Inherited Metabolic Disease.
D. Grozeva,
D. Hughes,
F. Raymond,
2020,
Movement disorders : official journal of the Movement Disorder Society.
J. Obeso,
C. Depienne,
R. Artuch,
2012,
Movement disorders : official journal of the Movement Disorder Society.
R. Artuch,
B. Pérez-Dueñas,
M. Vilaseca,
2005,
Clinical biochemistry.
A. Ormazabal,
R. Artuch,
B. Pérez-Dueñas,
2014,
Analytical and Bioanalytical Chemistry.
A. Videnovic,
T. Klopstock,
B. Pérez-Dueñas,
2019,
Clinical trials.
A. Vanderver,
Y. Crow,
Naoki Kitabayashi,
2017,
Neuropediatrics.
A. Vanderver,
Y. Crow,
Naoki Kitabayashi,
2017,
Neuropediatrics.
K. Anagnostopoulou,
F. Santorelli,
R. Artuch,
2019,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
B. Pérez-Dueñas,
E. Fernández-Álvarez,
E. Fernández‐Álvarez,
2013,
Handbook of clinical neurology.
B. Pérez-Dueñas,
A. Marcé-Grau,
M. Correa-Vela,
2022,
Developmental medicine and child neurology.
B. Pérez-Dueñas,
C. Espinós,
A. Darling,
2016
.
C. Ortez,
M. Pineda,
À. García‐Cazorla,
2011,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
M. Sobrido,
M. Martínez-Vicente,
B. Pérez-Dueñas,
2020,
Annals of clinical and translational neurology.
E. Ruiz-Pesini,
R. Artuch,
M. Bayona-Bafaluy,
2019,
Molecular genetics and metabolism.
M. O'Callaghan,
R. Artuch,
À. García‐Cazorla,
2015,
Expert review of neurotherapeutics.
S. Dimauro,
M. Pineda,
À. García‐Cazorla,
2009,
Journal of Inherited Metabolic Disease.
R. Artuch,
À. García‐Cazorla,
B. Pérez-Dueñas,
2010,
Clinical genetics.
P. Navas,
E. Ruiz-Pesini,
E. Trevisson,
2016,
Mitochondrion.
A. Ribes,
R. Artuch,
N. Darín,
2016,
Brain : a journal of neurology.
R. Artuch,
X. Setoain,
B. Pérez-Dueñas,
2009,
Archives of neurology.
A. Ormazabal,
R. Artuch,
B. Pérez-Dueñas,
2008,
Clinical biochemistry.
J. Reiss,
R. Artuch,
B. Pérez-Dueñas,
2007,
Pediatric Radiology.
B. Pérez-Dueñas,
L. Martí-Sánchez,
H. Baide-Mairena,
2019,
Journal of inherited metabolic disease.
R. Artuch,
B. Pérez-Dueñas,
J. Muchart,
2014,
Orphanet Journal of Rare Diseases.
Robert W. Taylor,
R. Artuch,
N. Darín,
2017,
Annals of neurology.
R. Artuch,
B. Pérez-Dueñas,
J. Muchart,
2013,
Pediatrics.
Y. Crow,
P. Hogarth,
S. Rahman,
2020,
Brain communications.
R. Artuch,
B. Pérez-Dueñas,
L. Martí-Sánchez,
2016,
Expert review of neurotherapeutics.
L. Møller,
B. Pérez-Dueñas,
V. Cusí,
2012,
Pediatrics.
L. Møller,
B. Pérez-Dueñas,
V. Cusí,
2012
.
A. Ribes,
À. García‐Cazorla,
A. Capdevila,
2009,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
A. Ribes,
F. Sanmartí,
M. Pineda,
2009,
Pediatric neurology.
B. Cormand,
M. Ribasés,
A. Ormazabal,
2007,
Molecular genetics and metabolism.
A. Ormazabal,
R. Artuch,
J. Montoya,
2012,
Drug discovery today.
C. Pérez-Cerdá,
M. Ugarte,
M. Palacín,
2013,
Molecular genetics and metabolism.
C. Davies,
S. Efthymiou,
H. Houlden,
2018,
Movement disorders : official journal of the Movement Disorder Society.
F. Villarroya,
S. Kalko,
E. Ruiz-Pesini,
2016,
PloS one.
B. Cormand,
A. Ormazabal,
R. Artuch,
2011,
Archives of neurology.
A. Ormazabal,
R. Artuch,
M. Pineda,
2006,
Clinica chimica acta; international journal of clinical chemistry.
J. Pujol,
C. Soriano-Mas,
H. Ortiz,
2006,
Neurology.
J. A. Arranz,
R. Artuch,
P. Briones,
2010,
Journal of child neurology.
D. Grozeva,
V. Fung,
N. Mahant,
2016,
Movement disorders : official journal of the Movement Disorder Society.
M. Tardáguila,
B. Pérez-Dueñas,
A. Macaya,
2022,
Parkinsonism & related disorders.
Rafael Artuch,
Aida Ormazabal,
Francesc Palau,
2016,
PloS one.
C. Marco-Marín,
B. Pérez-Dueñas,
M. Soriano-Navarro,
2022,
Human molecular genetics.
À. Bayés,
B. Pérez-Dueñas,
M. I. Vanegas,
2021,
Molecular Neurobiology.
F. Sánchez-Jiménez,
A. Ribes,
L. Vilarinho,
2010,
Clinical genetics.
C. Marco-Marín,
E. Muñoz,
A. Duat‐Rodríguez,
2022,
International journal of molecular sciences.
A. García-Alix,
B. Pérez-Dueñas,
A. Martínez-Monseny,
2018,
Human mutation.
A. Ormazabal,
R. Artuch,
M. Pineda,
2007,
Developmental Medicine & Child Neurology.
B. Cormand,
R. Artuch,
B. Pérez-Dueñas,
2011
.
S. Rives,
E. Tuset,
B. Pérez-Dueñas,
2002,
Bone Marrow Transplantation.
D. Cuadras,
C. Pérez-Cerdá,
R. Artuch,
2018,
International journal of molecular sciences.
D. Cuadras,
A. Ormazabal,
R. Artuch,
2020,
Scientific Reports.
L. Ibáñez,
V. Hwa,
B. Pérez-Dueñas,
2012,
Hormone Research in Paediatrics.
L. Cif,
S. Banka,
M. Kurian,
2022,
Epigenomics.
Rafael Artuch,
Jaume Campistol,
R. Artuch,
2004,
Clinical biochemistry.
Ó. Asensio,
F. Dasí,
B. Pérez-Dueñas,
2020,
Journal of clinical medicine.
A. V. van Kuilenburg,
R. Hennekam,
R. Artuch,
2019,
JIMD reports.
B. Pérez-Dueñas,
M. Vilaseca,
J. Campistol,
2002,
Acta paediatrica.
B. Pérez-Dueñas,
M. Villaronga,
Mercedes Serrano,
2012,
Developmental medicine and child neurology.
B. Pérez-Dueñas,
M. Huici,
A. Noguera-Julian,
2013,
Anales de pediatria.
Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.
G. Matthijs,
C. Pérez-Cerdá,
R. Artuch,
2009,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
A. Lang,
R. Jech,
Nora Vanegas-Arroyave,
2020,
Movement disorders : official journal of the Movement Disorder Society.
M. Marti,
B. Pérez-Dueñas,
M. I. Vanegas,
2020,
Parkinsonism & related disorders.
B. Pérez-Dueñas,
A. Noguera-Julian,
F. Cambra-Lasaosa,
2006,
Revista de neurologia.
R. Artuch,
M. Pineda,
B. Pérez-Dueñas,
2010,
Journal of Inherited Metabolic Disease.
A. Ormazabal,
R. Artuch,
M. Pineda,
2011,
Clinical biochemistry.
Belén Pérez,
Rafael Artuch,
Alfons Macaya,
2018,
Journal of Medical Genetics.
D. Cuadras,
C. Pérez-Cerdá,
R. Artuch,
2015,
Orphanet Journal of Rare Diseases.
F. Carrillo,
S. Jesús,
P. Mir,
2021,
Neurology: Genetics.
Nancy T. Malintan,
J. Rothman,
D. Kullmann,
2019,
Brain : a journal of neurology.
B. Pérez-Dueñas,
E. Fernández-Álvarez,
J. Campistol,
2014,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
Nancy T. Malintan,
J. Rothman,
D. Kullmann,
2019,
American journal of human genetics.
D. Timmann,
P. Striano,
J. Goraya,
2020,
Brain : a journal of neurology.
N. Baena,
G. Antiñolo,
S. Gökben,
2019,
Scientific Reports.
S. Kristensen,
J. Corral,
V. Vicente,
2013,
Orphanet Journal of Rare Diseases.
M. Di Michele,
J. Corral,
V. Vicente,
2014,
Thrombosis research.
N. Baena,
G. Antiñolo,
Gábor Csányi,
2017,
Scientific Reports.
N. Baena,
G. Antiñolo,
S. Gökben,
2017,
Scientific Reports.
J. Jaeken,
B. Pérez-Dueñas,
L. Alsina,
2016,
PloS one.
J. Hurst,
R. Scott,
F. Elmslie,
2016,
Neurology.
O. Díez,
E. Tizzano,
M. Codina-Solà,
2022,
Journal of Medical Genetics.
B. Peterlin,
A. Münchau,
A. Maver,
2023,
Genes.
B. Merinero,
R. Artuch,
B. Pérez-Dueñas,
2012,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. García-Arumí,
B. Pérez-Dueñas,
A. Moreno-Galdó,
2022,
Developmental medicine and child neurology.
L. Puelles,
B. Cormand,
F. Sanmartí,
2010,
Journal of Inherited Metabolic Disease.
F. Muntoni,
S. Yılmaz,
P. Munot,
2022,
Movement disorders : official journal of the Movement Disorder Society.
A. Vanderver,
Y. Crow,
D. Lev,
2020,
Human mutation.
D. Timmann,
M. Ferrari,
P. Striano,
2020,
American journal of human genetics.
B. Pérez-Dueñas,
M. I. Vanegas,
A. Macaya,
2019,
Parkinsonism & related disorders.
D. Grozeva,
H. Bergman,
D. Arkadir,
2017,
Nature Genetics.
A. Ormazabal,
R. Artuch,
B. Pérez-Dueñas,
2005,
Journal of Inherited Metabolic Disease.
M. Tijssen,
A. Koy,
S. Boesch,
2022,
Journal of Neurology.
T. Huisman,
A. Poretti,
C. Ortez,
2019,
Parkinsonism & related disorders.
D. Cuadras,
B. Pérez-Dueñas,
A. Macaya,
2017,
Orphanet Journal of Rare Diseases.
D. Cuadras,
A. Poretti,
C. Pérez-Cerdá,
2017,
Journal of Inherited Metabolic Disease.
Á. Gil,
B. Pérez-Dueñas,
E. López‐Laso,
2022,
Orphanet Journal of Rare Diseases.
F. Gil-Ortiz,
B. Pérez-Dueñas,
C. Espinós,
2021,
International journal of molecular sciences.
J. Jaeken,
B. Pérez-Dueñas,
L. Alsina,
2016,
PloS one.
B. Pérez-Dueñas,
C. Espinós,
A. Darling,
2018,
Clinical genetics.
F. Tort,
P. Navas,
E. Ruiz-Pesini,
2019,
Journal of clinical medicine.
B. Pérez-Dueñas,
A. Macaya,
L. Martorell,
2022,
Movement disorders clinical practice.
A. Ormazabal,
R. Artuch,
A. García-Alix,
2015,
Journal of Pediatric Biochemistry.
R. Artuch,
M. Pineda,
B. Pérez-Dueñas,
2006,
Revista de neurologia.
Henrik,
Houlden,
J. Rothman,
2019
.
Pieter B. T. Neerincx,
Spencer J. Gibson,
Farid Yavari Dizjikan,
2023,
Human Genomics.
Miguel A. Soler,
Monika J. Madej,
Nancy T. Malintan,
2019,
Nature Communications.
T. Klockgether,
S. Paus,
A. Ormazabal,
2008,
Movement disorders : official journal of the Movement Disorder Society.
M. Skowrońska,
T. Klopstock,
B. Pérez-Dueñas,
2023,
Orphanet Journal of Rare Diseases.
J. Rothman,
D. Kullmann,
D. Timmann,
2019,
Annals of neurology.
N. Baena,
G. Antiñolo,
S. Gökben,
2017,
Scientific Reports.
D. Grozeva,
H. Bergman,
D. Arkadir,
2016,
Nature Genetics.
Jordi Rumià,
J. Rumià,
B. Pérez-Dueñas,
2018,
Journal of neurosurgery. Pediatrics.
A. Ribes,
F. Sanmartí,
M. Pineda,
2009,
Pediatric neurology.
D. Cuadras,
R. Artuch,
M. Couce,
2018,
Neuropediatrics.
R. Artuch,
A. Mas,
B. Pérez-Dueñas,
2005,
Molecular genetics and metabolism.
R. Artuch,
B. Pérez-Dueñas,
M. Serrano,
2015,
Expert review of neurotherapeutics.
B. Cormand,
A. Ormazabal,
R. Artuch,
2011,
Archives of neurology.
A. Ormazabal,
R. Artuch,
B. Pérez-Dueñas,
2008,
Movement disorders : official journal of the Movement Disorder Society.
A. Ormazabal,
R. Artuch,
B. Pérez-Dueñas,
2007,
Neurology.