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Literatur der Netzwerkmitglieder

Publikationen im Rahmen der Aktivitäten innerhalb des Netzwerks

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(20) American journal of human genetics


(1) Annals of clinical and translational neurology


(4) Biochimica et biophysica acta


(1) BMC neurology


(1) BMJ case reports


(3) Brain : a journal of neurology


(1) Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery


(1) Circulation


(1) Diabetes


(2) European journal of human genetics : EJHG


(1) European journal of pediatrics


(2) Frontiers in genetics


(1) Genes, brain, and behavior


(1) Genome medicine


(1) Human molecular genetics


(1) Human mutation


(1) International journal of cardiology


(1) International review of neurobiology


(1) IUBMB life


(2) JIMD reports


(1) Journal of hepatology


(5) Journal of inherited metabolic disease


(5) Journal of medical genetics


(1) Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society


(3) Journal of neurology


(2) Metabolic brain disease


(1) Methods in enzymology


(3) Methods in molecular biology (Clifton, N.J.)


(1) Mitochondrion


(1) Molecular & cellular proteomics : MCP


(1) Molecular brain


(3) Molecular genetics and metabolism


(1) Movement disorders : official journal of the Movement Disorder Society


(1) Mutation research


(4) Nature genetics


(1) Nature reviews. Neurology


(1) Neurology


(1) Neuromuscular disorders : NMD


(1) Neuropediatrics


(1) Orphanet journal of rare diseases


(1) Oxidative medicine and cellular longevity


(1) PloS one


(1) Proteomics


(1) Science (New York, N.Y.)


(1) The American journal of pathology


(1) The international journal of biochemistry & cell biology


(1) The Journal of clinical investigation


(1) Trends in genetics : TIG


American journal of human genetics

Zsurka G et al. Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysis.
Am. J. Hum. Genet. 2007 Feb; 80(2):298-305 - Journal Article

Hartig MB et al. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
Am. J. Hum. Genet. 2011 Oct; 89(4):543-50 - Journal Article

Mayr JA et al. Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.
Am. J. Hum. Genet. 2011 Dec; 89(6):806-12 - Journal Article

Mayr JA et al. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
Am. J. Hum. Genet. 2012 Feb; 90(2):314-20 - Journal Article

Ghezzi D et al. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.
Am. J. Hum. Genet. 2012 Jun; 90(6):1079-87 - Journal Article

Danhauser K et al. DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
Am. J. Hum. Genet. 2012 Dec; 91(6):1082-7 - Journal Article

Haack TB et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Am. J. Hum. Genet. 2012 Dec; 91(6):1144-9 - Journal Article

Haack TB et al. ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy.
Am. J. Hum. Genet. 2013 Jul; - Journal Article

Gai X et al. Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy.
Am. J. Hum. Genet. 2013 Aug; - Journal Article

Bonnen PE et al. Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance.
Am. J. Hum. Genet. 2013 Aug; - Journal Article

Melchionda L et al. Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency.
Am. J. Hum. Genet. 2014 Sep; 95(3):315-25 - Journal Article

Kopajtich R et al. Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy.
Am. J. Hum. Genet. 2014 Dec; 95(6):708-20 - Journal Article

Wortmann SB et al. CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder.
Am. J. Hum. Genet. 2015 Jan; - Journal Article

Brea-Calvo G et al. COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency.
Am. J. Hum. Genet. 2015 Feb; 96(2):309-317 - Journal Article

Kremer LS et al. Biallelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
Am. J. Hum. Genet. 2016 Jan; - Journal Article

Olsen RK et al. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Am. J. Hum. Genet. 2016 Jun; 98(6):1130-45 - Journal Article

Kennedy H et al. Sudden Cardiac Death due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Am. J. Hum. Genet. 2016 Aug; - Journal Article

Haack TB et al. Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Am. J. Hum. Genet. 2016 Aug; - Journal Article

Kremer LS et al. NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Am. J. Hum. Genet. 2016 Aug; - Journal Article

Ait-El-Mkadem S et al. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Am. J. Hum. Genet. 2016 Dec; - Journal Article

Annals of clinical and translational neurology

Haack TB et al. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Ann Clin Transl Neurol. 2015 May; 2(5):492-509 - Journal Article

Biochimica et biophysica acta

Ahting U et al. Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.
Biochim. Biophys. Acta. 2009 May; 1787(5):371-6 - Journal Article

Wittig I et al. Assembly and oligomerization of human ATP synthase lacking mitochondrial subunits a and A6L.
Biochim. Biophys. Acta. 1797(6-7):1004-11 - Journal Article

Sukhorukov VM et al. Determination of protein mobility in mitochondrial membranes of living cells.
Biochim. Biophys. Acta. 2010 Nov; 1798(11):2022-32 - Journal Article

Kahlhöfer F et al. Accessory subunit NUYM (NDUFS4) is required for stability of the electron input module and activity of mitochondrial complex I.
Biochim. Biophys. Acta. 2016 Nov; - Journal Article

BMC neurology

Stüwe SH et al. Hepatic mitochondrial dysfunction in Friedreich Ataxia.
BMC Neurol. 2011; 11 - Journal Article

BMJ case reports

Czell D et al. Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation.
BMJ Case Rep. 2012; 2012 - Journal Article

Brain : a journal of neurology

Gerards M et al. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
Brain. 2011 Jan; 134(Pt 1):210-9 - Journal Article

Steenweg ME et al. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
Brain. 2012 May; 135(Pt 5):1387-94 - Journal Article

Neeve VC et al. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Brain. 2012 Dec; 135(Pt 12):3614-26 - Journal Article

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Baertling F et al. The many faces of paediatric mitochondrial disease on neuroimaging.
Childs Nerv Syst. 2016 Jul; - Journal Article/Review

Circulation

Weidemann F et al. The heart in Friedreich ataxia: definition of cardiomyopathy, disease severity, and correlation with neurological symptoms.
Circulation. 2012 Apr; 125(13):1626-34 - Journal Article

Diabetes

Franko A et al. Bezafibrate improves insulin sensitivity and metabolic flexibility in STZ-treated diabetic mice.
Diabetes. 2016 Jun; - Journal Article

European journal of human genetics : EJHG

Danhauser K et al. Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.
Eur. J. Hum. Genet. 2015 Jun; - Journal Article

Collet M et al. High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.
Eur. J. Hum. Genet. 2015 Dec; - Journal Article

European journal of pediatrics

Brackmann F et al. Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation.
Eur. J. Pediatr. 2012 May; 171(5):859-62 - Journal Article

Frontiers in genetics

Ahting U et al. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Front Genet. 2015; 6 - Journal Article

Venco P et al. Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.
Front Genet. 2015; 6 - Journal Article

Genes, brain, and behavior

Pham TT et al. DJ-1-deficient mice show less TH-positive neurons in the ventral tegmental area and exhibit non-motoric behavioural impairments.
Genes Brain Behav. 2010 Apr; 9(3):305-17 - Journal Article

Genome medicine

Klopstock T et al. Mitochondrial replacement approaches: challenges for clinical implementation.
Genome Med. 2016 Nov; 8(1):126 - Journal Article

Human molecular genetics

Tischner C et al. MTO1 mediates tissue-specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.
Hum. Mol. Genet. 2014 Dec; - Journal Article

Human mutation

Diodato D et al. VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies.
Hum. Mutat. 2014 May; - Journal Article

International journal of cardiology

Jose T et al. CMR gives clue to "ragged red fibers" in the heart in a patient with mitochondrial myopathy.
Int. J. Cardiol. 2011 May; 149(1):e24-7

International review of neurobiology

Hartig M et al. Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN).
Int. Rev. Neurobiol. 2013; 110 - Journal Article

IUBMB life

Zsurka G et al. Mitochondrial involvement in neurodegenerative diseases.
IUBMB Life. 2013 Jan; - Journal Article

JIMD reports

Marina AD et al. NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.
JIMD Rep. 2012 Nov; - Journal Article

Diodato D et al. Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.
JIMD Rep. 2014 Apr; - Journal Article

Journal of hepatology

Kremer LS et al. Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.
J. Hepatol. 2016 May; - Journal Article

Journal of inherited metabolic disease

Haack TB et al. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
J. Inherit. Metab. Dis. 2013 Jan; 36(1):55-62 - Journal Article

Haack TB et al. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
J. Inherit. Metab. Dis. 2012 Nov; 35(6):943-8 - Journal Article

Sperl W et al. The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
J. Inherit. Metab. Dis. 2014 Dec; - Journal Article

Huemer M et al. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
J. Inherit. Metab. Dis. 2015 Apr; - Journal Article

Koene S et al. International Paediatric Mitochondrial Disease Scale.
J. Inherit. Metab. Dis. 2016 Jun; - Journal Article

Journal of medical genetics

van den Bosch BJ et al. Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.
J. Med. Genet. 2012 Jan; 49(1):10-5 - Journal Article

Haack TB et al. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
2011 Dec; - Journal Article

Haack TB et al. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
J. Med. Genet. 2012 Apr; 49(4):277-83 - Journal Article

Jackson CB et al. Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.
J. Med. Genet. 2013 Dec; - Journal Article

Alston CL et al. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
J. Med. Genet. 2016 Apr; - Journal Article

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Rudolph G et al. Effects of Idebenone on Color Vision in Patients With Leber Hereditary Optic Neuropathy.
J Neuroophthalmol. 2013 Jan; - Journal Article

Journal of neurology

Deschauer M et al. C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.
J. Neurol. 2012 Nov; 259(11):2434-9 - Journal Article

Tschampa HJ et al. Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation.
J. Neurol. 2012 Nov; - Journal Article

Altmann J et al. Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.
J. Neurol. 2016 Mar; - Journal Article

Metabolic brain disease

Danhauser K et al. EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.
Metab Brain Dis. 2016 Jan; - Journal Article

Baertling F et al. Neonatal encephalocardiomyopathy caused by mutations in VARS2.
Metab Brain Dis. 2016 Aug; - Journal Article

Methods in enzymology

Elstner M et al. The mitochondrial proteome database: MitoP2.
Meth. Enzymol. 2009; 457 - Journal Article

Methods in molecular biology (Clifton, N.J.)

Heidler J et al. Quantification of protein complexes by blue native electrophoresis.
Methods Mol. Biol. 2013; 1033 - Journal Article

Kremer LS et al. Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines.
Methods Mol. Biol. 2017; 1567 - Journal Article

Kopajtich R et al. Analysis of Mitochondrial RNA-Processing Defects in Patient-Derived Tissues by qRT-PCR and RNAseq.
Methods Mol. Biol. 2017; 1567 - Journal Article

Mitochondrion

Hempel M et al. LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.
Mitochondrion. 2017 Jul; - Journal Article

Molecular & cellular proteomics : MCP

Wittig I et al. Mass estimation of native proteins by blue native electrophoresis: principles and practical hints.
Mol. Cell Proteomics. 2010 Oct; 9(10):2149-61 - Journal Article

Molecular brain

Elstner M et al. Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions.
2011 Dec; 4(1):43 - Journal Article

Molecular genetics and metabolism

Bulst S et al. In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.
Mol. Genet. Metab. 2012 Sep; 107(1-2):95-103 - Journal Article

Haack TB et al. Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Mol. Genet. Metab. 2013 Dec; - Journal Article

Falk MJ et al. Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.
Mol. Genet. Metab. 2014 Dec; - Review

Movement disorders : official journal of the Movement Disorder Society

Schulte EC et al. Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
Mov. Disord. 2013 Feb; 28(2):224-7 - Journal Article

Mutation research

Gekeler J et al. Clonal expansion of different mtDNA variants without selective advantage in solid tumors.
Mutat. Res. 2009 Mar; 662(1-2):28-32 - Journal Article

Nature genetics

Zsurka G et al. Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy.
Nat. Genet. 2005 Aug; 37(8):873-7 - Journal Article

Ghezzi D et al. SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
Nat. Genet. 2009 Jun; 41(6):654-6 - Journal Article

Haack TB et al. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
Nat. Genet. 2010 Dec; 42(12):1131-4 - Journal Article

Kornblum C et al. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
Nat. Genet. 2013 Feb; 45(2):214-9 - Journal Article

Nature reviews. Neurology

Pfeffer G et al. New treatments for mitochondrial disease-no time to drop our standards.
Nat Rev Neurol. 2013 Jul; - Journal Article

Neurology

Zsurka G et al. Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.
Neurology. 2010 Feb; 74(6):507-12 - Journal Article

Neuromuscular disorders : NMD

Schrank B et al. Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.
Neuromuscul. Disord. 2017 Feb; - Journal Article

Neuropediatrics

Herzer M et al. Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.
Neuropediatrics. 2010 Feb; 41(1):30-4 - Journal Article

Orphanet journal of rare diseases

Koch J et al. Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
Orphanet J Rare Dis. 2015 Apr; 10(1):40 - Journal Article

Oxidative medicine and cellular longevity

Feichtinger RG et al. Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Oxid Med Cell Longev. 2017; 2017 - Journal Article

PloS one

Muster B et al. Respiratory chain complexes in dynamic mitochondria display a patchy distribution in life cells.
PLoS ONE. 2010; 5(7):e11910 - Journal Article

Proteomics

Strecker V et al. Large pore gels to separate mega protein complexes larger than 10 MDa by blue native electrophoresis: isolation of putative respiratory strings or patches.
Proteomics. 2010 Sep; 10(18):3379-87 - Journal Article

Science (New York, N.Y.)

Kraytsberg Y et al. Recombination of human mitochondrial DNA.
Science. 2004 May; 304(5673):981 - Journal Article

The American journal of pathology

Müller-Höcker J et al. Oxyphil Cell Metaplasia in the Parathyroids Is Characterized by Somatic Mitochondrial DNA Mutations in NADH Dehydrogenase Genes and Cytochrome c Oxidase Activity-Impairing Genes.
Am. J. Pathol. 2014; 184(11):2922-35 - Journal Article

The international journal of biochemistry & cell biology

Kargul J et al. Mitochondrial diseases: from the lab bench to therapies.
Int. J. Biochem. Cell Biol. 2015 Mar;

The Journal of clinical investigation

O'Toole JF et al. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
J. Clin. Invest. 2010 Mar; 120(3):791-802 - Journal Article

Trends in genetics : TIG

Guo X et al. Repeats, longevity and the sources of mtDNA deletions: evidence from 'deletional spectra'.
Trends Genet. 2010 Aug; 26(8):340-3 - Journal Article