Ndufs4 related Leigh syndrome: a case report and review of the literature
JD Ortigoza-Escobar, A Oyarzabal, R Montero… - Mitochondrion, 2016 - Elsevier
The genetic causes of Leigh syndrome are heterogeneous, with a poor correlation between
the phenotype and genotype. Here, we present a patient with an NDUFS4 mutation to …
the phenotype and genotype. Here, we present a patient with an NDUFS4 mutation to …
Biochemical Diagnosis of Coenzyme Q10 Deficiency
D Yubero, R Montero, R Artuch, JM Land… - Molecular …, 2014 - karger.com
Abstract Coenzyme Q10 (CoQ10) deficiency appears to have a particularly heterogeneous
clinical presentation. However, there appear to be 5 recognisable clinical phenotypes …
clinical presentation. However, there appear to be 5 recognisable clinical phenotypes …
[HTML][HTML] GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunction
R Montero, D Yubero, J Villarroya, D Henares, C Jou… - PloS one, 2016 - journals.plos.org
Background We previously described increased levels of growth and differentiation factor 15
(GDF-15) in skeletal muscle and serum of patients with mitochondrial diseases. Here we …
(GDF-15) in skeletal muscle and serum of patients with mitochondrial diseases. Here we …
Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia
D Velasco-Sánchez, A Aracil, R Montero, A Mas… - The Cerebellum, 2011 - Springer
Iron chelators are a new therapeutical approach for patients with Friedreich's ataxia, on the
basis that oxidative cell damage that occurs in these patients is due to the increasing …
basis that oxidative cell damage that occurs in these patients is due to the increasing …
[HTML][HTML] Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor …
SG Kalko, S Paco, C Jou, MA Rodríguez, M Meznaric… - BMC genomics, 2014 - Springer
Background Mutations in the gene encoding thymidine kinase 2 (TK2) result in the
myopathic form of mitochondrial DNA depletion syndrome which is a mitochondrial …
myopathic form of mitochondrial DNA depletion syndrome which is a mitochondrial …
Molecular diagnosis of coenzyme Q10 deficiency: an update
D Yubero, R Montero, C Santos-Ocaña… - Expert review of …, 2018 - Taylor & Francis
ABSTRACT Introduction: Coenzyme Q10 (CoQ) deficiency syndromes comprise a growing
number of genetic disorders. While primary CoQ deficiency syndromes are rare diseases …
number of genetic disorders. While primary CoQ deficiency syndromes are rare diseases …
Small and high‐directivity bow‐tie patch antenna based on the Sierpinski fractal
The unique geometrical properties of fractals have been proven to be useful to design
advanced antennas. Enhanced performance in terms of size, gain, or multifrequency …
advanced antennas. Enhanced performance in terms of size, gain, or multifrequency …
Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up
M Pineda, J Arpa, R Montero, A Aracil… - European Journal of …, 2008 - Elsevier
BACKGROUND: Antioxidant therapy is a new therapeutical approach for patients with
Friedreich ataxia. AIMS: To assess the effectiveness of long-term idebenone treatment in …
Friedreich ataxia. AIMS: To assess the effectiveness of long-term idebenone treatment in …
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
D Yubero, R Montero, MA Martín, J Montoya, A Ribes… - Mitochondrion, 2016 - Elsevier
We evaluated the coenzyme Q₁₀ (CoQ) levels in patients who were diagnosed with
mitochondrial oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders (n= 72) …
mitochondrial oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders (n= 72) …
Genistein supplementation in patients affected by Sanfilippo disease
V Delgadillo, MM O'Callaghan, R Artuch… - Journal of Inherited …, 2011 - Wiley Online Library
Abstract Background Mucopolysaccharidosis type III (Sanfilippo syndrome) is a group of
autosomal recessive disorders caused by a deficiency in one of the four enzymes involved …
autosomal recessive disorders caused by a deficiency in one of the four enzymes involved …