List of works - Felix Distelmaier

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

scientific article

4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency

scientific article

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

scientific article published on 29 January 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.

scientific article

Bain type of X-linked syndromic mental retardation in boys

scientific article published on 18 March 2019

Beta-ureidopropionase deficiency presenting with febrile status epilepticus

scientific article published in January 2006

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

scientific article published on 19 January 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

scientific article

Biallelic mutations in cause developmental and epileptic encephalopathy

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

scientific article

Blue Diaper Syndrome and PCSK1 Mutations

scientific article published in April 2018

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

scientific article published on 10 August 2010

CAD mutations and uridine-responsive epileptic encephalopathy.

scientific article published on 21 December 2016

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

scientific article

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

scientific article published on 01 January 2020

Clinical spectrum of the pseudotumor cerebri complex in children

scientific article published on 10 November 2009

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

scientific article published on 14 June 2017

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

scientific article published on 16 October 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

scientific article published on 19 July 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

scientific article published on 31 July 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

scientific article published on 11 November 2020

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

scientific article published on 6 April 2006

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

scientific article published on 16 January 2016

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

scientific article published on 29 August 2006

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

scientific article published on 17 June 2015

Human Golgi antiapoptotic protein modulates intracellular calcium fluxes

scientific article

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

scientific article

Hypertrichosis in presymptomatic mitochondrial disease ⬇️

scientific article published on February 14, 2013

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

scientific article published on 30 May 2014

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

scientific article

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

scientific article

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

scientific article published on 24 March 2015

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

scientific article published on 10 February 2015

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

scientific article published on 20 September 2014

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

scientific article published on 04 March 2008

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

scientific article published on 31 March 2009

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

scientific article published on 20 December 2014

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

scientific article

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

scientific article published on 11 December 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

scientific article

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

scientific article

OXPHOS mutations and neurodegeneration

scientific article published on 13 November 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

scientific article

Pseudotumor cerebri as an important differential diagnosis of papilledema in children

scientific article

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

scientific article published on 5 November 2015

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

scientific article published on 01 December 2007

Status epilepticus due to attempted suicide with isoniazid

scientific article published on 7 October 2005

Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency

scientific article

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

scientific article published on 3 March 2009

The many faces of paediatric mitochondrial disease on neuroimaging

scientific article

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

scientific article published on February 21, 2013

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

scientific article

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

scientific article published on 13 June 2012

List of works by Felix Distelmaier

"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.