I agree that this site is using cookies. You can find further informations here.
X
Ortigoza-Escobar, Juan D.
150  results:
Search for persons X
?
1

Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fl..:

Trifunov, Selena ; Paredes-Fuentes, Abraham J ; Badosa, Carmen...
Clinical Chemistry.  67 (2021)  8 - p. 1113-1121 , 2021
Link: https://doi.org/10.1093/..
 
?
2

Cerebrospinal fluid neopterin as a biomarker of neuroinflam..:

Molero-Luis, Marta ; Casas-Alba, Didac ; Orellana, Gabriela...
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
?
3

Molecular Characterization of New FBXL4 Mutations in Patien..:

Emperador, Sonia ; Garrido-Pérez, Nuria ; Amezcua-Gil, Javier...
Frontiers in Genetics.  10 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
?
4

Muscle Involvement in a Large Cohort of Pediatric Patients ..:

Jou, Cristina ; Ortigoza-Escobar, Juan D. ; O'Callaghan, Maria M....
Journal of Clinical Medicine.  8 (2019)  1 - p. 68 , 2019
Link: https://doi.org/10.3390/..
 
?
5

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomann..:

Izquierdo-Serra, Mercè ; Martínez-Monseny, Antonio ; López, Laura...
International Journal of Molecular Sciences.  19 (2018)  2 - p. 619 , 2018
Link: https://doi.org/10.3390/..
 
?
6

Diverse faces of GNAO1: mild forms in epilepsy and autism:

Ludlam, William Grant ; Soliani, Luca ; Domínguez-Carral, Jana...
Journal of Neurology.  , 2024
Link: https://doi.org/10.1007/..
 
?
7

Status epilepticus in POLG disease: a large multinational s..:

Hikmat, Omar ; Naess, Karin ; Engvall, Martin...
Journal of Neurology.  , 2024
Link: https://doi.org/10.1007/..
 
?
8

A new blood DNA methylation signature for Koolen-de Vries s..:

Awamleh, Zain ; Choufani, Sanaa ; Wu, Wendy...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
?
9

Dyskinetic crisis in GNAO1-related disorders: clinical pers..:

Domínguez Carral, Jana ; Reinhard, Carola ; Ebrahimi-Fakhari, Darius...
Frontiers in Neurology.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
?
10

Improving paediatric movement disorders care: Insights on r..:

Amato, María Eugenia ; Darling, Alejandra ; Stovickova, Lucie...
European Journal of Paediatric Neurology.  52 (2024)  - p. 10-19 , 2024
Link: https://doi.org/10.1016/..
 
?
11

Insights from European Reference Network for rare neurologi..:

Nou-Fontanet, Laia ; Nguyen, Quang Tuan Rémy ; Bachoud-Levi, Anne-Catherine..
European Journal of Paediatric Neurology.  51 (2024)  - p. 110-117 , 2024
Link: https://doi.org/10.1016/..
 
?
12

Broadening the clinical spectrum: molecular mechanisms and ..:

Ousingsawat, Jiraporn ; Talbi, Khaoula ; Gómez-Martín, Hilario...
Brain.  147 (2023)  6 - p. 1982-1995 , 2023
Link: https://doi.org/10.1093/..
 
?
13

Clinical and electrophysiological features of SCN8A variant..:

Lyu, Hang ; Boßelmann, Christian M. ; Johannesen, Katrine M....
eBioMedicine.  98 (2023)  - p. 104855 , 2023
Link: https://doi.org/10.1016/..
 
?
14

Catching the Culprit: How Chorea May Signal an Inborn Error..:

Ortigoza-Escobar, Juan Darío
Tremor and Other Hyperkinetic Movements.  13 (2023)  - p. 36 , 2023
Link: https://doi.org/10.5334/..
 
?
15

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
Brain.  146 (2023)  8 - p. 3273-3288 , 2023
Link: https://doi.org/10.1093/..
 
1-15