Fisiología, Anatomía y Biología Celular
Departamento
![Foto de Fisiología, Anatomía y Biología Celular](/img/uploaded/635E6690CF945091AF78C4BF51A2C5B3.png)
![Foto de Hospital Clinic Barcelona](/img/noimage_org.png)
Hospital Clinic Barcelona
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Hospital Clinic Barcelona (22)
2024
-
Chromosomal breaks: another differential gap between early-onset and late-onset colorectal cancers
British Journal of Surgery, Vol. 111, Núm. 3
-
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
European Journal of Human Genetics, Vol. 32, Núm. 4, pp. 426-434
2022
-
Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle
Frontiers in Physiology, Vol. 13
-
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects
Antioxidants, Vol. 11, Núm. 4
2021
2020
-
Clinical presentation and proteomic signature of patients with TANGO2 mutations
Journal of Inherited Metabolic Disease, Vol. 43, Núm. 2, pp. 297-308
2019
-
ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency
Journal of Clinical Medicine, Vol. 8, Núm. 9
-
Muscle involvement in a large cohort of pediatric patients with genetic diagnosis of mitochondrial disease
Journal of Clinical Medicine, Vol. 8, Núm. 1
2016
-
Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356
Autophagy
-
Free-thiamine is a potential biomarker of Thiamine transporter-2 deficiency: A treatable cause of Leigh syndrome
Brain, Vol. 139, Núm. 1, pp. 31-38
-
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
Autophagy, Vol. 12, Núm. 1, pp. 1-222
-
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion, Vol. 30, pp. 51-58
-
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q 10 content
European Journal of Human Genetics, Vol. 24, Núm. 3, pp. 367-372
2014
-
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency
BMC Pediatrics, Vol. 14, Núm. 1
-
Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency
Journal of Inherited Metabolic Disease, Vol. 37, Núm. 1, pp. 53-62
2013
-
Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat
Parkinsonism and Related Disorders
-
Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes
Mitochondrion, Vol. 13, Núm. 4, pp. 337-341
2012
-
Guidelines for the use and interpretation of assays for monitoring autophagy
Autophagy, Vol. 8, Núm. 4, pp. 445-544
-
Mortality after surgery in Europe: A 7 day cohort study
The Lancet, Vol. 380, Núm. 9847, pp. 1059-1065
2010
-
Coenzyme Q10-responsive ataxia: 2-Year-treatment follow-up
Movement Disorders, Vol. 25, Núm. 9, pp. 1262-1268