À. García-Cazorla
发表
M. Baquero,
J. Campistol,
E. Geán,
2004,
Developmental medicine and child neurology.
P. Navas,
B. Bornstein,
R. Artuch,
2009,
Clinical biochemistry.
A. Ormazabal,
R. Artuch,
M. Molero-Luis,
2017
.
J. Friedman,
M. Kurian,
G. Horvath,
2016,
Molecular genetics and metabolism reports.
P. Navas,
E. Ruiz-Pesini,
E. Trevisson,
2016,
Mitochondrion.
A. Ribes,
R. Artuch,
N. Darín,
2016,
Brain : a journal of neurology.
L. Puelles,
R. Artuch,
M. Martı́nez-de-la-Torre,
2012,
Brain Structure and Function.
M. Brivet,
L. Meirleir,
À. García-Cazorla,
2006
.
John H Livingston,
Roberta Battini,
Ivana Olivieri,
2012,
Nature Genetics.
A. Green,
D. Bonthron,
E. Bertini,
2007,
American journal of human genetics.
S. Duarte,
J. Armstrong,
A. Roche,
2013,
PloS one.
À. García‐Cazorla,
G. Hoffmann,
N. Wolf,
2009,
Journal of Inherited Metabolic Disease.
A. Ormazabal,
R. Artuch,
B. Pérez-Dueñas,
2008,
Clinical biochemistry.
J. Reiss,
R. Artuch,
B. Pérez-Dueñas,
2007,
Pediatric Radiology.
A. Ribes,
B. Merinero,
R. Artuch,
2010,
Journal of Inherited Metabolic Disease.
Joaquín Dopazo,
Rosa Navarrete,
Anna López-Sala,
2014,
Human mutation.
E. Ruiz-Pesini,
A. Ribes,
J. Armstrong,
2018,
Journal of Inherited Metabolic Disease.
M. O'Callaghan,
R. Artuch,
À. García‐Cazorla,
2015,
Expert review of neurotherapeutics.
A. Ribes,
À. García‐Cazorla,
A. Capdevila,
2009,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Ruiz-Pesini,
A. Ormazabal,
R. Artuch,
2014,
Orphanet Journal of Rare Diseases.
A. Ribes,
F. Sanmartí,
M. Pineda,
2009,
Pediatric neurology.
R. Artuch,
M. Molero-Luis,
E. Cortès-Saladelafont,
2016,
Seminars in pediatric neurology.
À. García‐Cazorla,
D. Rabier,
B. Chadefaux-Vekemans,
2006,
Annals of neurology.
I. Bilbao,
R. Charco,
J. Quintero,
2019,
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.
A. Ormazabal,
R. Artuch,
E. Fernández-Álvarez,
2005,
Journal of Neuroscience Methods.
B. Cormand,
M. Ribasés,
A. Ormazabal,
2007,
Molecular genetics and metabolism.
P. Clayton,
K. Gibson,
À. García‐Cazorla,
2006
.
A. Ormazabal,
R. Artuch,
À. García‐Cazorla,
2014,
Electrophoresis.
B. Cormand,
M. Ribasés,
E. Kanavakis,
2010,
Movement disorders : official journal of the Movement Disorder Society.
N. Blau,
V. Ramaekers,
D. Dodick,
2008,
Neurology.
Fanny Mochel,
Foudil Lamari,
F. Lamari,
2015,
Journal of Inherited Metabolic Disease.
C. Ortez,
M. O'Callaghan,
À. García‐Cazorla,
2016,
Seminars in pediatric neurology.
B. Cormand,
A. Ormazabal,
R. Artuch,
2011,
Archives of neurology.
B. Cormand,
F. Sanmartí,
A. Ormazabal,
2010,
Journal of Inherited Metabolic Disease.
A. Ormazabal,
R. Artuch,
M. Pineda,
2006,
Clinica chimica acta; international journal of clinical chemistry.
M. Vilaseca,
J. Campistol,
M. Serrano,
2009,
The Cerebellum.
J. Armstrong,
Soledad Alcántara,
E. Cortès-Saladelafont,
2021,
Biomedicines.
M. Pineda,
À. García‐Cazorla,
U. Moog,
2009,
Journal of Inherited Metabolic Disease.
J. A. Arranz,
R. Artuch,
P. Briones,
2010,
Journal of child neurology.
F. Ciruela,
B. Colsch,
À. Bayés,
2019,
Science Signaling.
F. Ciruela,
À. Bayés,
J. Armstrong,
2018,
Biological Psychiatry.
X. Altafaj,
M. Olivella,
Adrián García-Recio,
2020,
Human mutation.
F. Ciruela,
À. García‐Cazorla,
X. Altafaj,
2020,
Human molecular genetics.
R. Artuch,
I. Marín-Valencia,
M. Vilaseca,
2010,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
À. García‐Cazorla,
N. Lipstein,
E. Cortès-Saladelafont,
2018,
Journal of Inherited Metabolic Disease.
P. Rustin,
À. García‐Cazorla,
D. Rabier,
2006,
The Journal of pediatrics.
Marta A. Uzarska,
J. A. Arranz,
F. Tort,
2011,
American journal of human genetics.
R. Artuch,
À. García‐Cazorla,
À. García-Cazorla,
2020,
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.
R. Artuch,
À. García‐Cazorla,
À. García-Cazorla,
2015
.
J. González,
G. Parra,
M. Gut,
2022,
The Journal of molecular diagnostics : JMD.
Rafael Artuch,
Aida Ormazabal,
Francesc Palau,
2016,
PloS one.
S. Lyonnet,
À. García‐Cazorla,
A. Legrand,
2003,
Molecular genetics and metabolism.
S. Duarte,
C. Ortez,
A. Ormazabal,
2015,
Molecular genetics and metabolism.
S. Duarte,
C. Ortez,
Ana Pérez,
2011,
Journal of Inherited Metabolic Disease.
S. Dimauro,
M. Pineda,
À. García‐Cazorla,
2009,
Journal of Inherited Metabolic Disease.
R. Sougrat,
H. Mandel,
D. Chitayat,
2009,
Human mutation.
Eric N. Anderson,
Michael T. Zimmermann,
Nikita R. Dsouza,
2020,
Acta Neuropathologica.
J. Armstrong,
A. Ormazabal,
R. Artuch,
2019,
Scientific Reports.
J. Saudubray,
À. García-Cazorla,
2018,
Pediatric clinics of North America.
P. Rustin,
P. de Lonlay,
G. Touati,
2005,
Pediatrics.
R. Artuch,
J. Colomer,
C. Espinós,
2012,
JIMD Reports.
J. García-Peñas,
X. Altafaj,
R. Cancho,
2021,
International journal of molecular sciences.
Vicente A. Yépez,
J. Gagneur,
H. Prokisch,
2022,
Brain pathology.
Mark T. Handley,
I. Jackson,
I. Glass,
2013,
Human mutation.
A. Ormazabal,
R. Artuch,
M. Pineda,
2007,
Developmental medicine and child neurology.
J. Campistol,
A. Sans,
C. Boix,
2004,
Journal of child neurology.
Robert W. Taylor,
F. Tort,
L. Waddell,
2019,
Journal of inherited metabolic disease.
C. Pérez-Cerdá,
M. Ugarte,
M. Couce,
2017,
Human mutation.
A. Ormazabal,
R. Artuch,
L. Martí-Sánchez,
2019,
Fluids and Barriers of the CNS.
S. Duarte,
À. García-Cazorla,
2014,
Journal of Inherited Metabolic Disease.
A. Ormazabal,
R. Artuch,
À. García‐Cazorla,
2012,
JIMD reports.
A. Ormazabal,
R. Artuch,
I. Jordan,
2013,
PloS one.
D. Cuadras,
A. Ormazabal,
R. Artuch,
2020,
Scientific Reports.
S. Duarte,
F. Sanmartí,
A. Ormazabal,
2008,
Brain and Development.
A. Roche,
R. Artuch,
À. García‐Cazorla,
2009,
American journal of kidney diseases : the official journal of the National Kidney Foundation.
R. Artuch,
À. García‐Cazorla,
B. Pérez-Dueñas,
2010,
Clinical genetics.
M. Baumgartner,
À. García‐Cazorla,
J. Zeman,
2016,
Journal of Inherited Metabolic Disease.
À. Bayés,
R. Artuch,
À. García‐Cazorla,
2016,
Seminars in pediatric neurology.
S. Duarte,
J. Armstrong,
P. Correia‐de‐Sá,
2020,
Neurobiology of Disease.
J. Armstrong,
M. Pineda,
Cristina Grau,
2020,
International journal of molecular sciences.
J. Campistol,
C. Gonzalez-Campo,
À. García-Cazorla,
1999
.
C. Stephan-Otto,
Jordi Muchart López,
T. Opladen,
2022,
Neuroradiology.
A. Consiglio,
Á. Raya,
F. Artigas,
2022,
bioRxiv.
A. Ormazabal,
R. Artuch,
À. García‐Cazorla,
2013,
Developmental medicine and child neurology.
V. Rigalleau,
À. García‐Cazorla,
M. Couce,
2019,
Orphanet Journal of Rare Diseases.
P. Rizzu,
A. Ormazabal,
R. Artuch,
2012,
Brain and Development.
À. García‐Cazorla,
J. Saudubray,
À. García-Cazorla,
2018,
Journal of Inherited Metabolic Disease.
E. Ruiz-Pesini,
R. Artuch,
M. Pineda,
2015,
Mitochondrion.
B. Pérez-Dueñas,
A. Noguera-Julian,
F. Cambra-Lasaosa,
2006,
Revista de neurologia.
M. Gut,
L. Pérez-Jurado,
S. Beltran,
2022,
Neurology.
R. Artuch,
M. Pineda,
B. Pérez-Dueñas,
2010,
Journal of Inherited Metabolic Disease.
A. Ormazabal,
R. Artuch,
M. Pineda,
2011,
Clinical biochemistry.
Rafael Artuch,
Aida Ormazabal,
Keith Hyland,
2008,
Molecular genetics and metabolism.
D. Cuadras,
C. Pérez-Cerdá,
R. Artuch,
2015,
Orphanet Journal of Rare Diseases.
B. Merinero,
M. Ugarte,
R. Artuch,
2016,
Biochimica et biophysica acta.
Eduardo Ruiz-Pesini,
Julio Montoya,
Rafael Artuch,
2019,
Scientific Reports.
E. Ruiz-Pesini,
A. Ormazabal,
R. Artuch,
2011,
Mitochondrion.
N. Blau,
R. Artuch,
À. García‐Cazorla,
2020,
Journal of inherited metabolic disease.
R. Artuch,
A. García-Alix,
M. Taglialatela,
2021,
Pediatric Neurology.
N. Baena,
G. Antiñolo,
S. Gökben,
2019,
Scientific Reports.
F. Tort,
A. Ribes,
R. Artuch,
2014,
Human molecular genetics.
B. Cormand,
Wiley Online Library,
J. Armstrong,
2022
.
R. Artuch,
P. Briones,
M. Vilaseca,
2005,
Journal of pediatric gastroenterology and nutrition.
E. Ruiz-Pesini,
R. Artuch,
M. Bayona-Bafaluy,
2019,
neurogenetics.
M D Ugarte,
A Adin,
P. Navas,
2016,
Scientific Reports.
N. Baena,
G. Antiñolo,
Gábor Csányi,
2017,
Scientific Reports.
N. Baena,
G. Antiñolo,
S. Gökben,
2017,
Scientific Reports.
P. Navas,
E. Trevisson,
R. Artuch,
2008,
Clinical biochemistry.
M. Verbeek,
E. Sabidó,
J. Friedman,
2020,
Movement disorders : official journal of the Movement Disorder Society.
D. Grozeva,
D. Hughes,
F. Raymond,
2020,
Movement disorders : official journal of the Movement Disorder Society.
A. Tristán-Noguero,
À. García-Cazorla,
Alba Tristán-Noguero,
2018,
Journal of Inherited Metabolic Disease.
A. Ormazabal,
R. Artuch,
M. Pineda,
2016,
Metabolic brain disease.
N. Fernàndez-Castillo,
Aurora Martínez,
H. Díez,
2015,
Biochimica et biophysica acta.
J. Armstrong,
A. Ormazabal,
R. Artuch,
2015,
Journal of Pediatric Neurology.
C. Ortez,
M. Pineda,
À. García‐Cazorla,
2011,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
J. A. Arranz,
F. Tort,
A. Ribes,
2013,
Journal of Inherited Metabolic Disease.
S. Duarte,
A. Ormazabal,
R. Artuch,
2008,
Mitochondrion.
L. Puelles,
B. Cormand,
F. Sanmartí,
2010,
Journal of Inherited Metabolic Disease.
A. Ormazabal,
R. Artuch,
M. Pineda,
2015,
Metabolic Brain Disease.
C. Ortez,
A. López de Munain,
S. Pascual-Pascual,
2023,
Journal of Medical Genetics.
V. Emmanuele,
K. Tanji,
Jorida Coku,
2012,
Journal of the Neurological Sciences.
J. Armstrong,
A. Ormazabal,
R. Artuch,
2017,
Movement disorders : official journal of the Movement Disorder Society.
C. Pérez-Cerdá,
C. Ortez,
A. Ormazabal,
2013,
Gene.
M. Morales-Ballús,
À. García-Cazorla,
J. Armstrong-Moron,
2020,
Ophthalmic genetics.
M. Sitbon,
O. Boespflug-Tanguy,
F. Mochel,
2023,
Neurology.
B. Merinero,
M. Ugarte,
R. Artuch,
2016,
Data in brief.
E. Ruiz-Pesini,
R. Artuch,
J. Montoya,
2021,
Clinical chemistry.
E. Ruiz-Pesini,
R. Artuch,
M. Pineda,
2012,
neurogenetics.
D. Cuadras,
R. Artuch,
J. Montoya,
2018,
Developmental medicine and child neurology.
F. Sedel,
A. Ormazabal,
R. Artuch,
2017,
Scientific Reports.
A. Ormazabal,
R. Artuch,
S. Heales,
2017,
Nature Protocols.
A. Fatemi,
M. Portero-Otín,
I. Ferrer,
2023,
The Journal of clinical investigation.
A. Ribes,
S. Duarte,
C. Ortez,
2011,
Journal of Alzheimer's disease : JAD.
F. Schaefer,
S. Kölker,
D. Martinelli,
2020,
Orphanet Journal of Rare Diseases.
P. Navas,
R. Artuch,
M. Pineda,
2005,
BioFactors.
F. Tort,
P. Navas,
E. Ruiz-Pesini,
2019,
Journal of clinical medicine.
Á. Ruibal,
Rebecca J. Brown,
P. Aguiar,
2019,
neurogenetics.
A. Ormazabal,
R. Artuch,
J. Campistol,
2012,
Revista de neurologia.
A. Rotenberg,
M. Bertoldi,
P. Pearl,
2023,
Epilepsia.
Tiago G Fernandes,
D. Henrique,
S. Duarte,
2015,
Biotechnology journal.
A. Ormazabal,
R. Artuch,
A. García-Alix,
2015,
Journal of Pediatric Biochemistry.
E. Ruiz-Pesini,
R. Artuch,
M. Bayona-Bafaluy,
2020,
Frontiers in Genetics.
E. Ruiz-Pesini,
R. Artuch,
M. Bayona-Bafaluy,
2019,
neurogenetics.
R. Artuch,
M. Pineda,
B. Pérez-Dueñas,
2006,
Revista de neurologia.
J. Campistol,
J. Colomer,
M. Iriondo,
2013,
Revista de neurologia.
J. Hoenicka,
J. Armstrong,
C. Ortez,
2021,
Pediatric neurology.
A. Rotenberg,
M. Bertoldi,
E. Arning,
2023,
Research square.
S. Meavilla,
J. Catalá-Mora,
A. Llorca-Cardeñosa,
2016
.
S. Meavilla,
J. Catalá-Mora,
A. Llorca-Cardeñosa,
2016,
Archivos de la Sociedad Espanola de Oftalmologia.
A. Ribes,
R. Artuch,
A. López-Sala,
2013,
Molecular genetics and metabolism.
Robert W. Taylor,
J. A. Arranz,
F. Tort,
2016,
Mitochondrion (Amsterdam. Print).
T. Klockgether,
S. Paus,
A. Ormazabal,
2008,
Movement disorders : official journal of the Movement Disorder Society.
J. Campistol,
N. Pérez-Muñoz,
À. García-Cazorla,
2007
.
R. Artuch,
À. García‐Cazorla,
M. Vilaseca,
2006,
Journal of Inherited Metabolic Disease.
James V. Leonard,
A. L. Wong,
I. Módy,
2010,
Vnitrni lekarstvi.
Y. Chien,
W. Hwu,
N. Blau,
2023,
Molecular genetics and metabolism.
N. Baena,
G. Antiñolo,
S. Gökben,
2017,
Scientific Reports.
P. Navas,
E. Ruiz-Pesini,
R. Artuch,
2019,
Scientific Reports.
À. Bayés,
R. Artuch,
À. García-Cazorla,
2018,
Journal of Inherited Metabolic Disease.
J. Armstrong,
A. Ormazabal,
R. Artuch,
2019,
Scientific Reports.
M. Ugarte,
R. Artuch,
B. Pérez,
2022,
Clinical genetics.
A. Ribes,
F. Sanmartí,
M. Pineda,
2009,
Pediatric Neurology.
J. A. Arranz,
F. Tort,
A. Ribes,
2016,
Mitochondrion.
F. Sanmartí,
A. Ormazabal,
R. Artuch,
2015,
Pediatric neurology.
B. Cormand,
J. Armstrong,
A. Ormazabal,
2011,
Movement disorders : official journal of the Movement Disorder Society.
N. Fernàndez-Castillo,
Aurora Martínez,
H. Díez,
2015,
Biochimica et biophysica acta.
J. Dopazo,
B. Merinero,
M. Ugarte,
2014,
Human mutation.
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.
James V. Leonard,
A. L. Wong,
I. Módy,
1989,
Cancer radiotherapie : journal de la Societe francaise de radiotherapie oncologique.
J. Armstrong,
A. Ormazabal,
R. Artuch,
2015,
Orphanet Journal of Rare Diseases.
D. Cuadras,
R. Artuch,
J. Aparicio,
2022,
Developmental medicine and child neurology.
A. Ormazabal,
R. Artuch,
S. Heales,
2017,
Nature Protocols.
B. Cormand,
R. Artuch,
J. Pascual,
2022
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M. Roselló,
C. Orellana,
P. Sánchez-Pintos,
2024,
Journal of inherited metabolic disease.