Lista de obras -

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

artículo científico publicado en 2014

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

artículo científico publicado en 2014

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

artículo científico publicado en 2011

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

artículo científico publicado en 2016

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

artículo científico publicado en 2016

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

artículo científico publicado en 2016

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

artículo científico publicado en 2017

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

artículo científico publicado en 2015

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

artículo científico publicado en 2016

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

scientific journal article

CAD mutations and uridine-responsive epileptic encephalopathy.

artículo científico publicado en 2016

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

artículo científico publicado en 2015

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

artículo científico publicado en 2015

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

article

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

artículo científico publicado en 2017

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

artículo científico publicado en 2018

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

artículo científico publicado en 2015

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

artículo científico publicado en 2015

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

artículo científico publicado en 2012

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

artículo científico publicado en 2015

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

artículo científico publicado en 2016

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

artículo científico publicado en 2013

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

artículo científico publicado en 2010

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

artículo científico publicado en 2012

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

artículo científico

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

artículo científico publicado en 2012

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

artículo científico publicado en 2015

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

artículo científico publicado en 2012

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

artículo científico publicado en 2014

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

artículo científico publicado en 2015

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

artículo científico publicado en 2012

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

artículo científico publicado en 2013

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

artículo científico publicado en 2015

MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

artículo científico publicado en 2015

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

scientific article published on 10 October 2013

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

artículo científico publicado en 2012

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

artículo científico publicado en 2011

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

artículo científico publicado en 2014

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

artículo científico publicado en 2013

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

artículo científico publicado en 2014

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

scientific journal article

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

artículo científico publicado en 2012

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

scientific journal article

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

artículo científico publicado en 2016

Novel (ovario) leukodystrophy related to AARS2 mutations

artículo científico publicado en 2014

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

artículo científico publicado en 2017

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

artículo científico publicado en 2013

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

artículo científico

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

artículo científico publicado en 2015

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

artículo científico publicado en 2016

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

artículo científico publicado en 2014

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting

artículo científico publicado en 2016

Spectrum of combined respiratory chain defects

artículo científico publicado en 2015

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

scientific journal article

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

scientific journal article

The genotypic and phenotypic spectrum of MTO1 deficiency.

artículo científico publicado en 2017

The many faces of paediatric mitochondrial disease on neuroimaging

artículo científico publicado en 2016

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

artículo científico publicado en 2019

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

artículo científico publicado en 2014

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

artículo científico publicado en 2013

Lista de obras de

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

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

CAD mutations and uridine-responsive epileptic encephalopathy.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

Novel (ovario) leukodystrophy related to AARS2 mutations

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting

Spectrum of combined respiratory chain defects

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

The genotypic and phenotypic spectrum of MTO1 deficiency.

The many faces of paediatric mitochondrial disease on neuroimaging

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation