Lista de obras -

"How much brain is really necessary?" A case of complex cerebral malformation and its clinical course

artículo científico publicado en 2007

4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency

artículo científico publicado en 2017

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant

artículo científico publicado en 2018

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome

scientific article published on 20 October 2011

A guide to diagnosis and treatment of Leigh syndrome.

artículo científico publicado en 2013

Bain type of X-linked syndromic mental retardation in boys

artículo científico publicado en 2019

Beta-ureidopropionase deficiency presenting with febrile status epilepticus

artículo científico publicado en 2006

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

artículo científico publicado en 2016

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

scientific article published on 30 January 2020

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

artículo científico publicado en 2015

Biallelic mutations in cause developmental and epileptic encephalopathy

Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome

artículo científico publicado en 2013

Blue Diaper Syndrome and PCSK1 Mutations

artículo científico publicado en 2018

Blue native electrophoresis to study mitochondrial complex I in C. elegans

artículo científico publicado en 2010

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

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration

artículo científico publicado en 2020

Clinical spectrum of the pseudotumor cerebri complex in children

artículo científico publicado en 2009

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities

artículo científico publicado en 2017

Computer-assisted live cell analysis of mitochondrial membrane potential, morphology and calcium handling.

artículo científico publicado en 2008

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

article

Cystic renal dysplasia as a leading sign of inherited metabolic disease

artículo científico publicado en 2007

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

artículo científico publicado en 2020

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients

scientific article published on 25 November 2019

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

artículo científico publicado en 2020

Disseminated pilocytic astrocytoma involving brain stem and diencephalon: a history of atypical eating disorder and diagnostic delay

artículo científico publicado en 2006

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

artículo científico publicado en 2016

Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up

artículo científico publicado en 2006

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

artículo científico

Human Golgi antiapoptotic protein modulates intracellular calcium fluxes

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Hypertrichosis in presymptomatic mitochondrial disease ⬇️

artículo científico publicado el 14 de febrero de 2013

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

artículo científico publicado en 2014

Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria.

artículo científico publicado en 2008

Life cell quantification of mitochondrial membrane potential at the single organelle level.

artículo científico publicado en 2008

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

Malonic aciduria: long-term follow-up of new patients detected by newborn screening

artículo científico publicado en 2014

Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency.

artículo científico publicado en 2008

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

artículo científico publicado en 2009

Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.

artículo científico publicado en 2014

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.

artículo científico publicado en 2017

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

scientific journal article

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome

artículo científico publicado en 2016

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

scientific journal article

NDUFA2 complex I mutation leads to Leigh disease

artículo científico publicado en 2008

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

artículo científico publicado en 2016

OXPHOS mutations and neurodegeneration

artículo científico publicado en 2012

Probable idiopathic intracranial hypertension in pre-pubertal children

scientific article published on 01 April 2008

Probable pseudotumor cerebri complex in 25 children. Further support of a concept

artículo científico publicado en 2016

Pseudotumor cerebri as an important differential diagnosis of papilledema in children

artículo científico publicado en 2005

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

artículo científico publicado en 2015

Secondary pseudotumor cerebri in pediatric oncology and hematology: an unpredictable condition of varying etiology

artículo científico publicado en 2007

Status epilepticus due to attempted suicide with isoniazid

artículo científico publicado en 2005

Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency

artículo científico publicado en 2013

The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency

artículo científico publicado en 2009

The many faces of paediatric mitochondrial disease on neuroimaging

artículo científico publicado en 2016

Transient Ischaemic Attack in a 5-Year-Old Girl due to Focal Vasculitis in Neuroborreliosis ⬇️

artículo científico publicado el 21 de febrero de 2013

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease

artículo científico publicado en 2015

Trolox-sensitive reactive oxygen species regulate mitochondrial morphology, oxidative phosphorylation and cytosolic calcium handling in healthy cells.

artículo científico publicado en 2012

Lista de obras de

"How much brain is really necessary?" A case of complex cerebral malformation and its clinical course

4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome

A guide to diagnosis and treatment of Leigh syndrome.

Bain type of X-linked syndromic mental retardation in boys

Beta-ureidopropionase deficiency presenting with febrile status epilepticus

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

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

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

Biallelic mutations in cause developmental and epileptic encephalopathy

Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome

Blue Diaper Syndrome and PCSK1 Mutations

Blue native electrophoresis to study mitochondrial complex I in C. elegans

CAD mutations and uridine-responsive epileptic encephalopathy.

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

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration

Clinical spectrum of the pseudotumor cerebri complex in children

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities

Computer-assisted live cell analysis of mitochondrial membrane potential, morphology and calcium handling.

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

Cystic renal dysplasia as a leading sign of inherited metabolic disease

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Disseminated pilocytic astrocytoma involving brain stem and diencephalon: a history of atypical eating disorder and diagnostic delay

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

Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up

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

Human Golgi antiapoptotic protein modulates intracellular calcium fluxes

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

Hypertrichosis in presymptomatic mitochondrial disease ⬇️

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

Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria.

Life cell quantification of mitochondrial membrane potential at the single organelle level.

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

Malonic aciduria: long-term follow-up of new patients detected by newborn screening

Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency.

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome

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

NDUFA2 complex I mutation leads to Leigh disease

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

OXPHOS mutations and neurodegeneration

Probable idiopathic intracranial hypertension in pre-pubertal children

Probable pseudotumor cerebri complex in 25 children. Further support of a concept

Pseudotumor cerebri as an important differential diagnosis of papilledema in children

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

Secondary pseudotumor cerebri in pediatric oncology and hematology: an unpredictable condition of varying etiology

Status epilepticus due to attempted suicide with isoniazid

Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency

The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency

The many faces of paediatric mitochondrial disease on neuroimaging

Transient Ischaemic Attack in a 5-Year-Old Girl due to Focal Vasculitis in Neuroborreliosis ⬇️

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease

Trolox-sensitive reactive oxygen species regulate mitochondrial morphology, oxidative phosphorylation and cytosolic calcium handling in healthy cells.