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.

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.

À. García‐Cazorla, G. Hoffmann, N. Wolf, 2009, Journal of Inherited Metabolic Disease.

J. Reiss, R. Artuch, B. Pérez-Dueñas, 2007, Pediatric Radiology.

A. Ribes, B. Merinero, R. Artuch, 2010, 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.

P. Clayton, K. Gibson, À. García‐Cazorla, 2006 .

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.

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.

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.

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. 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.

J. García-Peñas, X. Altafaj, R. Cancho, 2021, International journal of molecular sciences.

Vicente A. Yépez, J. Gagneur, H. Prokisch, 2022, Brain pathology.

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.

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.

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.

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. Campistol, C. Gonzalez-Campo, À. García-Cazorla, 1999 .

C. Stephan-Otto, Jordi Muchart López, T. Opladen, 2022, Neuroradiology.

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.

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.

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.

Eduardo Ruiz-Pesini, Julio Montoya, Rafael Artuch, 2019, Scientific Reports.

N. Blau, R. Artuch, À. García‐Cazorla, 2020, Journal of inherited metabolic disease.

R. Artuch, A. García-Alix, M. Taglialatela, 2021, Pediatric Neurology.

E. Ruiz-Pesini, R. Artuch, M. Bayona-Bafaluy, 2019, neurogenetics.

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

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.

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.

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.

M. Morales-Ballús, À. García-Cazorla, J. Armstrong-Moron, 2020, Ophthalmic genetics.

B. Merinero, M. Ugarte, R. Artuch, 2016, Data in brief.

D. Cuadras, R. Artuch, J. Montoya, 2018, Developmental medicine and child neurology.

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.

Á. Ruibal, Rebecca J. Brown, P. Aguiar, 2019, neurogenetics.

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.

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.

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.

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.

A. Ribes, F. Sanmartí, M. Pineda, 2009, 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.

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.

D. Cuadras, R. Artuch, J. Aparicio, 2022, Developmental medicine and child neurology.

A. Ormazabal, R. Artuch, S. Heales, 2017, Nature Protocols.

M. Roselló, C. Orellana, P. Sánchez-Pintos, 2024, Journal of inherited metabolic disease.