Search

Author/Creator Ortez, Carlos

11. OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. Issue 11 (10th September 2018)

Authors:
Thompson, Kyle; Mai, Nicole; Oláhová, Monika; Scialó, Filippo; Formosa, Luke E; Stroud, David A; Garrett, Madeleine; Lax, Nichola Z; Robertson, Fiona M; Jou, Cristina; Nascimento, Andres; Ortez, Carlos; Jimenez‐Mallebrera, Cecilia; Hardy, Steven A; He, Langping; Brown, Garry K; Marttinen, Paula; ...
Journal:
EMBO molecular medicine
Issue:
Volume 10:Issue 11(2018)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

12. Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen. (March 2021)

Authors:
Carrera-García, Laura; Muchart, Jordi; Lazaro, Juan José; Expósito-Escudero, Jessica; Cuadras, Daniel; Medina, Julita; Bosch de Basea, Magda; Colomer, Jaume; Jimenez-Mallebrera, Cecilia; Ortez, Carlos; Natera-de Benito, Daniel; Nascimento, Andrés
Journal:
European journal of paediatric neurology
Issue:
Volume 31(2021)
Page Start:
92
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

13. PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression. (April 2019)

Authors:
Darling, Alejandra; Aguilera-Albesa, Sergio; Tello, Cristina Aisha; Serrano, Mercedes; Tomás, Miguel; Camino-León, Rafael; Fernández-Ramos, Joaquín; Jiménez-Escrig, Adriano; Poó, Pilar; O'Callaghan, Mar; Ortez, Carlos; Nascimento, Andrés; Fernández Mesaque, Ramón Candau; Madruga, Marcos; Arrabal,...
Journal:
Parkinsonism & related disorders
Issue:
Volume 61(2019)
Page Start:
179
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

14. Retrospective natural history of thymidine kinase 2 deficiency. Issue 8 (30th March 2018)

Authors:
Garone, Caterina; Taylor, Robert W; Nascimento, Andrés; Poulton, Joanna; Fratter, Carl; Domínguez-González, Cristina; Evans, Julie C; Loos, Mariana; Isohanni, Pirjo; Suomalainen, Anu; Ram, Dipak; Hughes, M Imelda; McFarland, Robert; Barca, Emanuele; Lopez Gomez, Carlos; Jayawant, Sandeep; Thomas,...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 8(2018)
Page Start:
515
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

15. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. Issue 6 (15th April 2015)

Authors:
Kölker, Stefan; Cazorla, Angeles Garcia; Valayannopoulos, Vassili; Lund, Allan M.; Burlina, Alberto B.; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi‐Vici, Carlo; Barić, Ivo; Karall, Daniela; Augoustides‐Savvopoulou, Persephone; Aksglaede, Lise; Arnoux, Jean...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 6(2015)
Page Start:
1041
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

16. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. Issue 6 (15th April 2015)

Authors:
Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B.; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi‐Vici, Carlo; Barić, Ivo; Karall, Daniela; Arnoux, Jean‐Baptiste; Avram, Paula; Baumgartner, Matthias R.; Blasco‐Alonso, Javier; Boy, S. P. Nikolas; R...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 6(2015)
Page Start:
1059
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗