C. Fons
发表
David B. Goldstein,
Bertrand Fontaine,
Stephany C. Koelewijn,
2012,
Nature Genetics.
R. Zatorre,
A. Rodríguez-Fornells,
L. Bosch,
2019,
eNeuro.
I. Scheffer,
S. Sisodiya,
M. Thom,
2020,
Neurology.
J. Campistol,
C. Fons,
2016,
Seminars in Pediatric Neurology.
A. Ribes,
B. Merinero,
R. Artuch,
2009,
Journal of Inherited Metabolic Disease.
A. Ribes,
A. Ormazabal,
R. Artuch,
2007,
Clinical biochemistry.
J. Hoenicka,
C. Ortez,
C. Fons,
2020,
The Journal of molecular diagnostics : JMD.
A. Ribes,
R. Artuch,
M. Pineda,
2010,
Molecular genetics and metabolism.
A. Ribes,
R. Artuch,
M. Pineda,
2008,
Journal of Inherited Metabolic Disease.
J. Armstrong,
A. Ormazabal,
R. Artuch,
2012,
JIMD reports.
A. Ribes,
B. Merinero,
F. Sanmartí,
2009,
Epilepsia.
S. Yum,
I. Valencia,
S. Kothare,
2005,
Journal of child neurology.
A. García-Alix,
C. Fons,
Jordi Muchart López,
2014,
Pediatric reports.
P. Lazo,
P. Gómez-Puertas,
L. Corchete,
2020,
Human genomics.
R. Artuch,
J. Pascual,
J. Campistol,
2014,
Pediatric Neurology.
A. Ribes,
M. Milá,
P. Briones,
2011,
European Journal of Human Genetics.
A. Arzimanoglou,
J. Aparicio,
C. Fons,
2022,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
J. Armstrong,
M. Pineda,
J. Campistol,
2012,
Journal of Pediatric Epilepsy.
A. Ribes,
P. Briones,
L. Gort,
2020
.
S. Nevsimalova,
R. Artuch,
A. Arzimanoglou,
2012,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
C. Fons,
A. Bergara,
A. Villarroel,
2022,
bioRxiv.
J. Campistol,
C. Fons,
A. Rey,
2008,
Pediatric neurology.
A. Schlüter,
C. Fons,
A. Pujol,
2019,
Journal of Medical Genetics.
Laura Bosch,
Pablo Ripollés,
Clément François,
2016,
Cortex.
J. Armstrong,
A. Ormazabal,
R. Artuch,
2015,
Orphanet Journal of Rare Diseases.
E. Heinzen,
A. Arzimanoglou,
J. Jasien,
2021,
Brain communications.
E. Heinzen,
Maria Papadopoulou,
A. Arzimanoglou,
2021
.
J. A. Arranz,
R. Artuch,
P. Briones,
2010,
Journal of child neurology.
I. Scheffer,
D. Goldstein,
S. Sisodiya,
2015,
Orphanet Journal of Rare Diseases.
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
I. Scheffer,
E. Wirrell,
S. Weiss,
2022,
Brain : a journal of neurology.
A. Ribes,
M. Milá,
P. Briones,
2010,
European Journal of Human Genetics.
C. Pérez-Cerdá,
A. Ribes,
A. Messeguer,
2009,
Clinical biochemistry.
K. Devriendt,
J. Vermeesch,
M. Bollen,
2020,
American journal of human genetics.
Paul Casaer,
Jaume Campistol,
Alexis Arzimanoglou,
2010,
Brain : a journal of neurology.
P. Lazo,
P. Gómez-Puertas,
L. Corchete,
2021,
Human Genomics.
P. Rizzu,
A. Ormazabal,
R. Artuch,
2012,
Brain and Development.
R. González-Sarmiento,
P. Lazo,
P. Gómez-Puertas,
2020,
International journal of molecular sciences.
D. Cuadras,
C. Pérez-Cerdá,
R. Artuch,
2015,
Orphanet Journal of Rare Diseases.
R. Artuch,
A. García-Alix,
M. Taglialatela,
2021,
Pediatric Neurology.
A. Capdevila,
C. Fons,
J. Campistol,
2009,
Journal of child neurology.
C. Fons,
L. Martorell,
P. Póo,
2015,
Clinical dysmorphology.
L. Puelles,
B. Cormand,
F. Sanmartí,
2010,
Journal of Inherited Metabolic Disease.
Pier D Lambiase,
Henry Houlden,
Josemir W Sander,
2015,
Brain : a journal of neurology.
C. Fons,
D. Casas-Alba,
Marcela Mezzatesta,
2021,
American journal of medical genetics. Part A.
A. Ribes,
S. Duarte,
C. Ortez,
2011,
Journal of Alzheimer's disease : JAD.
J. García-Peñas,
J. Armstrong,
M. Couce,
2016,
Journal of Human Genetics.
Maria Papadopoulou,
A. Arzimanoglou,
M. Mikati,
2023,
European journal of paediatric neurology.
R. Velazquez,
J. Campistol,
C. Fons,
2014,
Medicina clínica (Ed. impresa).
R. Velazquez,
J. Campistol,
C. Fons,
2014
.
D. Cuadras,
R. Artuch,
J. Aparicio,
2022,
Developmental medicine and child neurology.