I agree that this site is using cookies. You can find further informations here.
X
Cortès‐Saladelafont, Elisenda
72  results:
Search for persons X
?
1

The continuously evolving phenotype of succinic semialdehyd..:

Julia‐Palacios, Natalia Alexandra ; Kuseyri Hübschmann, Oya ; Olivella, Mireia...
Journal of Inherited Metabolic Disease.  47 (2024)  3 - p. 447-462 , 2024
Link: https://doi.org/10.1002/..
 
?
2

Integrative Approach to Predict Severity in Nonketotic Hype..:

Kuseyri Hübschmann, Oya ; Juliá‐Palacios, Natalia Alexandra ; Olivella, Mireia...
Annals of Neurology.  92 (2022)  2 - p. 292-303 , 2022
Link: https://doi.org/10.1002/..
 
?
3

Monoamine neurotransmitters in early epileptic encephalopat..:

Juliá‐Palacios, Natalia ; Molina‐Anguita, Cristina ; Sigatulina Bondarenko, María...
Developmental Medicine & Child Neurology.  64 (2022)  7 - p. 915-923 , 2022
Link: https://doi.org/10.1111/..
 
?
4

Impact of the SARS‐CoV‐2 pandemic on the health of individu..:

Mütze, Ulrike ; Gleich, Florian ; Barić, Ivo...
Journal of Inherited Metabolic Disease.  46 (2022)  2 - p. 220-231 , 2022
Link: https://doi.org/10.1002/..
 
?
5

Brain MR patterns in inherited disorders of monoamine neuro..:

Kuseyri Hübschmann, Oya ; Mohr, Alexander ; Friedman, Jennifer...
Journal of Inherited Metabolic Disease.  44 (2021)  4 - p. 1070-1082 , 2021
Link: https://doi.org/10.1002/..
 
?
6

Assessment of intellectual impairment, health‐related quali..:

Keller, Mareike ; Brennenstuhl, Heiko ; Kuseyri Hübschmann, Oya...
Journal of Inherited Metabolic Disease.  44 (2021)  6 - p. 1489-1502 , 2021
Link: https://doi.org/10.1002/..
 
?
7

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile P..:

Ng, Joanne ; Cortès‐Saladelafont, Elisenda ; Abela, Lucia...
Movement Disorders.  35 (2020)  8 - p. 1357-1368 , 2020
Link: https://doi.org/10.1002/..
 
?
8

Presynaptic disorders: a clinical and pathophysiological ap..:

Cortès‐Saladelafont, Elisenda ; Lipstein, Noa ; García‐Cazorla, Àngels
Journal of Inherited Metabolic Disease.  41 (2018)  6 - p. 1131-1145 , 2018
Link: https://doi.org/10.1007/..
 
?
9

Gamma‐aminobutyric acid levels in cerebrospinal fluid in ne..:

Cortès‐Saladelafont, Elisenda ; Molero‐Luis, Marta ; Cuadras, Daniel...
Developmental Medicine & Child Neurology.  60 (2018)  8 - p. 780-792 , 2018
Link: https://doi.org/10.1111/..
 
?
10

Correction to: Age at disease onset and peak ammonium level..:

Posset, Roland ; Garcia‐Cazorla, Angeles ; Valayannopoulos, Vassili...
Journal of Inherited Metabolic Disease.  41 (2018)  4 - p. 743-744 , 2018
Link: https://doi.org/10.1007/..
 
?
11

Age at disease onset and peak ammonium level rather than in..:

Posset, Roland ; Garcia‐Cazorla, Angeles ; Valayannopoulos, Vassili...
Journal of Inherited Metabolic Disease.  39 (2016)  5 - p. 661-672 , 2016
Link: https://doi.org/10.1007/..
 
?
12

Fabry Disease and Central Nervous System Involvement: From ..:

Cortés-Saladelafont, Elisenda ; Fernández-Martín, Julián ; Ortolano, Saida
International Journal of Molecular Sciences.  24 (2023)  6 - p. 5246 , 2023
Link: https://doi.org/10.3390/..
 
?
13

Impact of COVID19 pandemic on patients with rare diseases i..:

Rovira-Remisa, M. Mar ; Moreira, Mónica ; Ventura, Paula Sol...
Molecular Genetics and Metabolism Reports.  35 (2023)  - p. 100962 , 2023
Link: https://doi.org/10.1016/..
 
?
14

Volumetric study of brain MRI in a cohort of patients with ..:

Alfonsi, Chiara ; Stephan-Otto, Christian ; Cortès-Saladelafont, Elisenda...
Neuroradiology.  64 (2022)  11 - p. 2179-2190 , 2022
Link: https://doi.org/10.1007/..
 
?
15

Unraveling Molecular Pathways Altered in MeCP2-Related Synd..:

Castells, Alba-Aina ; Balada, Rafel ; Tristán-Noguero, Alba...
Biomedicines.  9 (2021)  2 - p. 148 , 2021
Link: https://doi.org/10.3390/..
 
1-15