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Lista de obras de Pascal Reynier

5-Oxoprolinuria in hyperammonemic encephalopathy: Coincidence or worsening factor?

artículo científico publicado en 2017

A Data Mining Metabolomics Exploration of Glaucoma

artículo científico publicado en 2020

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency

scientific article published on 01 September 2018

A Nontargeted UHPLC-HRMS Metabolomics Pipeline for Metabolite Identification: Application to Cardiac Remote Ischemic Preconditioning

artículo científico publicado en 2016

A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies

artículo científico publicado en 2020

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.

artículo científico publicado en 2018

A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines.

artículo científico publicado en 2018

A common variant near TGFBR3 is associated with primary open angle glaucoma.

artículo científico publicado en 2015

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

artículo científico publicado en 2011

A mitochondria-specific isoform of FASTK is present in mitochondrial RNA granules and regulates gene expression and function.

artículo científico publicado en 2015

A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease

artículo científico publicado en 2005

A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's disease

artículo científico publicado en 2017

A serum metabolomics signature of hypothermia fatalities involving arginase activity, tryptophan content, and phosphatidylcholine saturation

scientific article published on 18 September 2018

AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages

artículo científico publicado en 2015

Accumulation of deletions in MtDNA during tissue aging: analysis by long PCR

scientific article published on 01 December 1995

Acute intermittent porphyria causes hepatic mitochondrial energetic failure in a mouse model

artículo científico publicado en 2014

Adenine nucleotide translocase 2 is a key mitochondrial protein in cancer metabolism.

artículo científico publicado en 2010

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.

artículo científico publicado en 2009

Alagille syndrome: a case report

artículo científico publicado en 2018

Analysis of Tg transcripts by real-time RT-PCR in the blood of thyroid cancer patients

artículo científico publicado en 2002

Apparent resistance to thyroid hormones: From biological interference to genetics

artículo científico publicado en 2019

Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?

artículo científico publicado en 2013

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

artículo científico publicado en 2015

Association of deletion and homoplasmic point mutation of the mitochondrial DNA in an ocular myopathy

scientific article published on 01 August 1994

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

artículo científico publicado en 2017

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

scientific journal article

Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation

artículo científico publicado en 2011

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

scholarly article by Céline Bris et al published 2018 in Frontiers in Genetics

CLUH couples mitochondrial distribution to the energetic and metabolic status.

artículo científico publicado en 2017

Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene

artículo científico publicado en 2012

Clinical and biological specificity of beta-thalassemia intermedia: a case report

artículo científico publicado en 2016

Current mechanistic insights into the CCCP-induced cell survival response

artículo científico publicado en 2017

Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.

artículo científico publicado en 2018

Data-Mining Approach on Transcriptomics and Methylomics Placental Analysis Highlights Genes in Fetal Growth Restriction

scientific article published on 01 January 2019

Decreased expression of thyrotropin receptor gene suggests a high-risk subgroup for oncocytic adenoma.

artículo científico publicado en 2004

Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing.

artículo científico publicado en 2017

Defective mitochondrial ATP synthesis in oxyphilic thyroid tumors.

artículo científico publicado en 2001

Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.

artículo científico publicado en 2007

Dietary fat clearance in type V hyperlipoproteinaemia secondary to a rare variant of human apolipoprotein E: the apolipoprotein E3 (Arg 136-->Ser)

artículo científico publicado en 2000

Dominant optic atrophy.

artículo científico publicado en 2012

Domperidone for insufficient lactation in England 2002-2015: A drug utilization study with interrupted time series analysis

scientific article published on 14 August 2018

Early compaction at day 3 may be a useful additional criterion for embryo transfer ⬇️

artículo científico publicado el 7 de abril de 2013

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

artículo científico publicado en 2014

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis

artículo científico publicado en 2007

Effects of sildenafil on maximum walking time in patients with arterial claudication: The ARTERIOFIL study

artículo científico publicado en 2019

Elevated Levels of Monocyte Chemotactic Protein-1 in the Follicular Fluid Reveals Different Populations among Women with Severe Endometriosis

artículo científico publicado en 2020

Endometriosis Lowers the Cumulative Live Birth Rates in IVF by Decreasing the Number of Embryos but Not Their Quality

scientific article published on 01 August 2020

Erratum. Maternal ageing impairs mitochondrial DNA kinetics during early embryogenesis in mice

scientific article published on 01 July 2019

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.

artículo científico publicado en 2009

Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity

artículo científico publicado en 2020

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

artículo científico publicado en 2003

From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders

artículo científico publicado en 2010

Gene profiling reveals specific oncogenic mechanisms and signaling pathways in oncocytic and papillary thyroid carcinoma.

artículo científico publicado en 2005

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

artículo científico publicado en 2017

Genetically determined optic neuropathies

scientific article published on February 2010

Hereditary optic atrophies

artículo científico publicado en 2010

Hereditary optic neuropathies share a common mitochondrial coupling defect.

artículo científico publicado en 2008

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

artículo científico publicado en 2010

Heterozygous OPA1 mutations in Behr syndrome

artículo científico publicado en 2011

High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts

artículo científico publicado en 2021

How Can a Ketogenic Diet Improve Motor Function?

artículo científico publicado en 2018

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

artículo científico publicado en 2011

Impact of various handling and storage conditions on quantitative detection of hepatitis C virus RNA.

artículo científico publicado en 1996

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.

artículo científico publicado en 2014

Increase in Cardiac Ischemia-Reperfusion Injuries in Opa1+/- Mouse Model.

artículo científico publicado en 2016

Increased Protein S-Glutathionylation in Leber's Hereditary Optic Neuropathy (LHON)

artículo científico publicado en 2020

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.

artículo científico publicado en 2016

Increased sperm mitochondrial DNA content in male infertility

scientific article published on 01 March 2003

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

artículo científico publicado en 2016

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

artículo científico publicado en 2017

Intravenous beta-blockers in ST-segment elevation myocardial infarction: A systematic review and meta-analysis.

artículo científico publicado en 2016

Is ABCC6 a genuine mitochondrial protein?

artículo científico publicado en 2013

Letter in response to remote ischaemic conditioning provides humoral cross-species cardioprotection through glycine receptor activation

artículo científico publicado en 2017

Lipidomics Reveals Cerebrospinal-Fluid Signatures of ALS.

artículo científico publicado en 2017

Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1-Disrupted Fibroblasts

scientific article published on 14 June 2019

Long PCR analysis of human gamete mtDNA suggests defective mitochondrial maintenance in spermatozoa and supports the bottleneck theory for oocytes.

artículo científico publicado en 1998

Long-lasting hyperalgesia induced by fentanyl in rats: preventive effect of ketamine

artículo científico publicado en 2000

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.

artículo científico publicado en 2016

Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis

artículo científico publicado en 2016

Low oocyte mitochondrial DNA content in ovarian insufficiency.

artículo científico publicado en 2004

Low serum testosterone assayed by liquid chromatography-tandem mass spectrometry. Comparison with five immunoassay techniques

artículo científico publicado en 2007

MFN2, a new gene responsible for mitochondrial DNA depletion ⬇️

artículo científico publicado el 3 de mayo de 2012

Male infertility associated with multiple mitochondrial DNA rearrangements

artículo científico publicado en 1997

Maternal ageing impairs mitochondrial DNA kinetics during early embryogenesis in mice

scientific article published on 01 July 2019

Metabo-lipidomics of Fibroblasts and Mitochondrial-Endoplasmic Reticulum Extracts from ALS Patients Shows Alterations in Purine, Pyrimidine, Energetic, and Phospholipid Metabolisms

scientific article published on 24 January 2019

Metabolic Signature of Remote Ischemic Preconditioning Involving a Cocktail of Amino Acids and Biogenic Amines

artículo científico publicado en 2016

Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS.

artículo científico publicado en 2012

Metabolomic Approach in STEMI-Patients Undergoing Left Ventricular Remodeling ⬇️

artículo científico

Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study

artículo científico publicado en 2019

Metabolomics and Lipidomics Profiling of a Combined Mitochondrial Plus Endoplasmic Reticulum Fraction of Human Fibroblasts: A Robust Tool for Clinical Studies.

artículo científico publicado en 2017

Metabolomics reveals highly regional specificity of cerebral sexual dimorphism in mice

scientific article published on 23 September 2019

Metabolomics shows no impairment of the microenvironment of the cumulus-oocyte complex in women with isolated endometriosis

scientific article published on 12 August 2019

Metabolomics signatures of a subset of RET variants according to their oncogenic risk level

artículo científico publicado en 2019

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.

artículo científico publicado en 2008

Mitochondrial DNA Parameters in Blood of Infants Receiving Lopinavir/Ritonavir or Lamivudine Prophylaxis to Prevent Breastfeeding Transmission of HIV-1

scientific article published on 14 September 2020

Mitochondrial DNA in the oocyte and the developing embryo.

artículo científico publicado en 2007

Mitochondrial bioenergetic background confers a survival advantage to HepG2 cells in response to chemotherapy.

artículo científico publicado en 2009

Mitochondrial complex I defect resulting from exercise-induced lower limb ischemia in patients with peripheral arterial disease

artículo científico publicado en 2018

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

scientific article published on 17 December 2008

Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease

article by Dominique Loiseau et al published April 2007 in Annals of Neurology

Mitochondrial diseases preferentially involve proteins with prokaryote homologues

artículo científico publicado en 2004

Mitochondrial dynamics and disease, OPA1

artículo científico publicado en 2006

Mitochondrial dysfunction affecting visual pathways

artículo científico publicado en 2014

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

artículo científico publicado en 2010

Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria

artículo científico publicado en 2015

Mitochondrial macro-haplogroup JT may play a protective role in ovarian ageing

artículo científico publicado en 2014

Molecular characterization of corona radiata cells from patients with diminished ovarian reserve using microarray and microfluidic-based gene expression profiling

artículo científico publicado en 2012

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

artículo científico publicado en 2009

Multi-system neurological disease is common in patients with OPA1 mutations

artículo científico publicado en 2010

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

artículo científico publicado en 2016

Multiorgan failure after sickle cell vaso occlusive attack: integrated clinical and biological emergency

artículo científico publicado en 2014

Multiple deletions of the mitochondrial DNA in polymyalgia rheumatica

scientific article published on 01 November 1994

Multiple sclerosis and Leber's hereditary optic neuropathy mitochondrial DNA mutations

scientific article published on 01 May 2001

Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy

artículo científico publicado en 2008

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

artículo científico publicado en 2007

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

artículo científico publicado en 2017

Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis

scientific article published on 23 October 2019

Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing.

artículo científico publicado en 2017

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

artículo científico publicado en 2017

Neurotoxicity of insecticides

artículo científico publicado en 2017

Neurotoxicity of pesticides: its relationship with neurodegenerative diseases

artículo científico publicado en 2013

Never too old to harbour a young man's disease?

artículo científico publicado en 2011

New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation

artículo científico publicado en 2008

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

artículo científico publicado en 2018

Nicotinamide Deficiency in Primary Open-Angle Glaucoma

artículo científico publicado en 2019

No evidence of thyrotropin receptor and G(s alpha) gene mutation in high iodine uptake thyroid carcinoma

artículo científico publicado en 2000

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

artículo científico publicado en 2017

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

artículo científico publicado en 2005

OPA1 functions in mitochondria and dysfunctions in optic nerve.

artículo científico publicado en 2009

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

artículo científico publicado en 2008

OPA1-associated disorders: phenotypes and pathophysiology.

artículo científico publicado en 2009

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

scientific article published on 23 August 2015

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background

artículo científico publicado en 2009

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

scientific article published on 10 September 2019

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

artículo científico publicado en 2004

Obesity-induced metabolic disturbance drives oxidative stress and complement activation in the retinal environment

artículo científico publicado en 2018

Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements

scientific article published on 01 September 1997

Ovarian ageing: the role of mitochondria in oocytes and follicles.

artículo científico publicado en 2016

Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K

scientific article published on 23 October 2019

Oxygen consumption and expression of the adenine nucleotide translocator in cells lacking mitochondrial DNA.

artículo científico publicado en 2002

PGC-1-related coactivator and targets are upregulated in thyroid oncocytoma.

artículo científico publicado en 2003

Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy

scientific article published on May 2010

Perspectives of drug-based neuroprotection targeting mitochondria.

artículo científico

Pituitary stalk interruption syndrome: a rare and severe cause of pituitary deficiency Laboratory diagnosis of a newborn case.

artículo científico publicado en 2017

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

artículo científico publicado en 2013

Primary antiphospholipid syndrome and antiphospholipid syndrome associated to systemic lupus: Are they different entities?

artículo científico publicado en 2018

Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions

artículo científico publicado en 2018

Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells.

artículo científico publicado en 2014

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

artículo científico publicado en 2012

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific journal article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

artículo científico publicado en 2015

Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.

artículo científico publicado en 2016

Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation

artículo científico publicado en 2000

Relationship between diminished ovarian reserve and mitochondrial biogenesis in cumulus cells.

artículo científico publicado en 2015

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

artículo científico publicado en 2013

Reply: The expanding neurological phenotype of DNM1L-related disorders

artículo científico publicado en 2018

Resveratrol Directly Binds to Mitochondrial Complex I and Increases Oxidative Stress in Brain Mitochondria of Aged Mice

artículo científico publicado en 2015

Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells

artículo científico publicado en 2013

Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red Fibers

artículo científico publicado en 2019

Retinal metabolic events in preconditioning light stress as revealed by wide-spectrum targeted metabolomics

artículo científico publicado en 2017

Reversible optic neuropathy with OPA1 exon 5b mutation

scientific article published on 01 May 2008

SGLT-2 inhibitors and the risk of infections: a systematic review and meta-analysis of randomized controlled trials

artículo científico publicado en 2018

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder

scientific article published on 03 December 2019

Sensorineural hearing loss in OPA1-linked disorders.

artículo científico publicado en 2013

Sickle Cell Disease: Metabolomic Profiles of Vaso-Occlusive Crisis in Plasma and Erythrocytes

scientific article published on 11 April 2020

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

artículo científico publicado en 2011

Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1

artículo científico publicado en 2005

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function.

artículo científico publicado en 2012

Study of mitochondrial function in placental insufficiency

artículo científico publicado en 2018

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

artículo científico publicado en 2017

Targeted metabolomics reveals reduced levels of polyunsaturated choline plasmalogens and a smaller dimethylarginine/arginine ratio in the follicular fluid of patients with a diminished ovarian reserve

artículo científico publicado en 2017

Thanatobiochemistry: its contribution to the diagnosis of hypothermia fatalities

scientific article published on 21 October 2019

Thanatobiochemistry: post mortem study of the vitreous humor for the diagnosis of diabetic ketoacidosis death

scientific article published on 01 June 2018

The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency

scientific article published on 01 August 2018

The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome.

artículo científico publicado en 2018

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

artículo científico publicado en 2016

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene

scientific article published on 01 December 2003

The combination of four analytical methods to explore skeletal muscle metabolomics: Better coverage of metabolic pathways or a marketing argument?

artículo científico publicado en 2017

The cytokine profile of follicular fluid changes during ovarian ageing

artículo científico publicado en 2020

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.

artículo científico publicado en 2012

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress

artículo científico publicado en 2016

The mitochondrial DNA content of cumulus cells may help predict embryo implantation

artículo científico publicado en 2018

The mitochondrial DNA content of cumulus granulosa cells is linked to embryo quality

artículo científico publicado en 2017

The timing of onset of hypertensive disorders in pregnancy and the risk of incident hypertension and cardiovascular disease

artículo científico publicado en 2018

Transfer into a mesothelioma cell line of tumor suppressor gene p16 by cholesterol-based cationic lipids.

artículo científico publicado en 2003

Tryptophane-kynurenine pathway in the remote ischemic conditioning mechanism

artículo científico publicado en 2020

Type I hyperlipidaemia caused by lipoprotein lipase deficiency in a nurseling: the role of the clinical laboratory in processing biological samples and contributing to the diagnosis and therapeutic follow-up of patients

artículo científico publicado en 2015

Updated review of postmortem biochemical exploration of hypothermia with a presentation of standard strategy of sampling and analyses

artículo científico publicado en 2018

Warburg-like effect is a hallmark of complex I assembly defects

artículo científico publicado en 2019

West syndrome and mitochondrial diabetes: relationship or coincidence?

scientific article published on 01 July 2002

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

artículo científico publicado en 2007

Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies

artículo científico publicado en 2015

[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs]

artículo científico publicado en 2005

[Mass spectrometry for steroid assays]

artículo científico publicado en 2015

[Metabolome and mass spectrometry: new biomedical analysis perspectives]

artículo científico publicado en 2015

[Mitochondria and reproduction]

artículo científico publicado en 2004

[Molecular characterization of corona radiata cells from patients with diminished ovarian reserve]

artículo científico publicado en 2012

[Spermatozoon mitochondrial DNA]

artículo científico publicado en 2006

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

artículo científico publicado en 2018

eOPA1: an online database for OPA1 mutations

artículo científico publicado en 2005

mtDNA controls expression of the Death Associated Protein 3.

artículo científico publicado en 2006

mtDNA haplogroup J: a contributing factor of optic neuritis

artículo científico publicado en 1999

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