| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Ablation of the gene coding for complex I subunit NDUFA5 in CNS results in a mild phenotype
|
Peralta, S.
|
|
2012
|
12 |
5 |
p. 590-
1 p.
|
artikel
|
| 2 |
Absence of malonyl-CoA decarboxylase (MCD) impacts endurance exercise capacity and reprograms skeletal muscle mitochondrial metabolism
|
Koves, Tim
|
|
2012
|
12 |
5 |
p. 586-
1 p.
|
artikel
|
| 3 |
Activation of mitochondrial bioenergetics by 35-kDa PGC-1α/PINK1 signaling pathway
|
Choi, Joungil
|
|
2012
|
12 |
5 |
p. 570-571
2 p.
|
artikel
|
| 4 |
Alterations of the aerobic mitochondrial energy metabolism in brain tumors
|
Feichtinger, René G.
|
|
2012
|
12 |
5 |
p. 564-
1 p.
|
artikel
|
| 5 |
A mouse model with a missense mutation in ND6 for pre-Leber's hereditary optic neuropathy
|
Lin, Chun Shi
|
|
2012
|
12 |
5 |
p. 558-
1 p.
|
artikel
|
| 6 |
A myopathy with retiform mitochondria
|
Fujioka, Hisashi
|
|
2012
|
12 |
5 |
p. 574-
1 p.
|
artikel
|
| 7 |
An evolving bioinformatics tool reveals mitochondrial pathology in diseases and aging
|
Scheibye-Knudsen, Morten
|
|
2012
|
12 |
5 |
p. 578-
1 p.
|
artikel
|
| 8 |
A novel mouse model for nuclear-encoded partial respiratory chain Complex I deficiency
|
Kim, Chul
|
|
2012
|
12 |
5 |
p. 571-
1 p.
|
artikel
|
| 9 |
A novel sequence variant of tRNAThr in mtDNA, transferred by bone marrow transplantation in patient with ALL
|
Povalko, Nataliya
|
|
2012
|
12 |
5 |
p. 551-
1 p.
|
artikel
|
| 10 |
A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations
|
Yarham, John W.
|
|
2012
|
12 |
5 |
p. 533-538
6 p.
|
artikel
|
| 11 |
A systematic search for mitochondrial RNA processing components
|
Wolf, Ashley R.
|
|
2012
|
12 |
5 |
p. 568-
1 p.
|
artikel
|
| 12 |
A systems biology approach to mitochondrial disease in C. elegans
|
Sedensky, Margaret M.
|
|
2012
|
12 |
5 |
p. 583-584
2 p.
|
artikel
|
| 13 |
Baseline PBMC OXPHOS enzymes can predict fat changes at 24 or 72weeks in Thai subjects initiated on HAART
|
Takemoto, Jody K.
|
|
2012
|
12 |
5 |
p. 563-
1 p.
|
artikel
|
| 14 |
Biogenesis of the mitochondrial respiratory chain in children with severe multiorgan disorders
|
Hinttala, Reetta
|
|
2012
|
12 |
5 |
p. 576-
1 p.
|
artikel
|
| 15 |
Blockade of electron transport before ischemia provides an additive protection in bcl-2 overexpressor mice following prolonged ischemia–reperfusion
|
Xu, Aijun
|
|
2012
|
12 |
5 |
p. 582-
1 p.
|
artikel
|
| 16 |
Characterization of a Chinese hamster mutant cell line with a complete defect in mitochondrial protein synthesis
|
Potluri, Prasanth
|
|
2012
|
12 |
5 |
p. 577-578
2 p.
|
artikel
|
| 17 |
Children with mitochondrial disease and autism have alterations in pathways involved in response to endogenous and exogenous stressors
|
Frye, Richard E.
|
|
2012
|
12 |
5 |
p. 558-
1 p.
|
artikel
|
| 18 |
Chronic treatment with the long acting phosphodiesterase-5 inhibitor, tadalafil, decreases mitochondrial damage in diabetic mice
|
Aluri, Hema S.
|
|
2012
|
12 |
5 |
p. 576-
1 p.
|
artikel
|
| 19 |
Clinical re-sequencing of over 410 genes to diagnose mitochondrial disorders: Results from the first 78 patients
|
DaRe, Jeana
|
|
2012
|
12 |
5 |
p. 567-568
2 p.
|
artikel
|
| 20 |
Complementary RNA and protein profiling identifies iron as a key regulator of mitochondrial biogenesis
|
Rensvold, Jarred W.
|
|
2012
|
12 |
5 |
p. 573-
1 p.
|
artikel
|
| 21 |
Comprehensive analysis of entire mitochondrial genome by long-range PCR and next generation sequencing for the diagnosis of mitochondrial disorders: Yield of 216 cases
|
Bai, Renkui
|
|
2012
|
12 |
5 |
p. 588-
1 p.
|
artikel
|
| 22 |
Contractile and mitochondrial dysfunction in heart trabeculae from diabetic rats
|
Bhatt, Niraj
|
|
2012
|
12 |
5 |
p. 581-
1 p.
|
artikel
|
| 23 |
Development of stem cell-based models for neuro-mitochondrial disorders
|
Rao, Raj R.
|
|
2012
|
12 |
5 |
p. 579-
1 p.
|
artikel
|
| 24 |
Diagnosis and treatment of secondary mitochondrial disease
|
Niyazov, Dmitriy M.
|
|
2012
|
12 |
5 |
p. 563-564
2 p.
|
artikel
|
| 25 |
Diagnosis of diseases associated with mitochondrial DNA biosynthesis and maintenance of integrity by next generation sequencing
|
Cui, Hong
|
|
2012
|
12 |
5 |
p. 567-
1 p.
|
artikel
|
| 26 |
Diagnostic application of measuring oxidative phosphorylation in permeabilized skin fibroblasts
|
Ye, Fang
|
|
2012
|
12 |
5 |
p. 575-
1 p.
|
artikel
|
| 27 |
D-MTERF5 is a novel factor modulating transcription in Drosophila mitochondria
|
Bruni, Francesco
|
|
2012
|
12 |
5 |
p. 492-499
8 p.
|
artikel
|
| 28 |
“Double-trouble” or digenic disorder in complex I deficiency
|
Almeida, Lígia S.
|
|
2012
|
12 |
5 |
p. 585-
1 p.
|
artikel
|
| 29 |
Editorial Board
|
|
|
2012
|
12 |
5 |
p. IFC-
1 p.
|
artikel
|
| 30 |
Epigenetic memory in the mitochondria of human embryonic stem cells
|
Davila Jr., Antonio
|
|
2012
|
12 |
5 |
p. 581-582
2 p.
|
artikel
|
| 31 |
EPI-743: Preliminary report on Italian experience in open label study of three patients with acute Leber's hereditary optic neuropathy
|
Carelli, Valerio
|
|
2012
|
12 |
5 |
p. 581-
1 p.
|
artikel
|
| 32 |
Evidence for mitochondrial adaptation to chronic glucose exposure in beta cells
|
Kolesar, Jill E.
|
|
2012
|
12 |
5 |
p. 587-588
2 p.
|
artikel
|
| 33 |
Evolution of the actin gene: Comparing DNA sequences of Limulus polyphemus and Argopecten irradians and the implication in mitochondrial function
|
Arnone, Katie E.
|
|
2012
|
12 |
5 |
p. 552-
1 p.
|
artikel
|
| 34 |
Exome sequencing and functional biology reveal novel mitochondrial disease genes
|
Bonnen, Penelope E.
|
|
2012
|
12 |
5 |
p. 587-
1 p.
|
artikel
|
| 35 |
First tier molecular diagnosis of mitochondrial disorders — The experience of a mitochondrial diagnostic laboratory pre‐NextGen era
|
Tang, Sha
|
|
2012
|
12 |
5 |
p. 560-
1 p.
|
artikel
|
| 36 |
Functional analysis of astrocytes in a complex I deficient mouse model
|
Bird, Matthew
|
|
2012
|
12 |
5 |
p. 561-
1 p.
|
artikel
|
| 37 |
Functional comparison of mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells
|
Mueller, Edith E.
|
|
2012
|
12 |
5 |
p. 564-
1 p.
|
artikel
|
| 38 |
Gene regulation of cytochrome C oxidase subunit 4 isoform 2: A tale of three factors
|
Grossman, Lawrence
|
|
2012
|
12 |
5 |
p. 578-579
2 p.
|
artikel
|
| 39 |
Global metabolic profiling reveals metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations
|
Strittmatter, Laura
|
|
2012
|
12 |
5 |
p. 577-
1 p.
|
artikel
|
| 40 |
Glucose kinetics in subjects with MELAS syndrome: Interim results
|
El-Hattab, Ayman W.
|
|
2012
|
12 |
5 |
p. 554-
1 p.
|
artikel
|
| 41 |
Identification of a Nfs1p-bound persulfide intermediate in Fe–S cluster synthesis by intact mitochondria
|
Pandey, Alok
|
|
2012
|
12 |
5 |
p. 539-549
11 p.
|
artikel
|
| 42 |
Identification of a novel TTC19 mutation in a Portuguese family with complex III deficiency
|
Nogueira, Célia
|
|
2012
|
12 |
5 |
p. 584-585
2 p.
|
artikel
|
| 43 |
Identifying factors promoting Complex I assembly in mammalian cells
|
Vartak, Rasika S.
|
|
2012
|
12 |
5 |
p. 568-
1 p.
|
artikel
|
| 44 |
Implementation of next generation sequencing for clinical molecular diagnosis of mitochondrial disorders
|
Zhang, Victor Wei
|
|
2012
|
12 |
5 |
p. 555-556
2 p.
|
artikel
|
| 45 |
Improved redox status after liver transplantation in a patient with MMA mut 0 subtype; functional evidence for EPI-743 therapy
|
Niemi, Anna-Kaisa
|
|
2012
|
12 |
5 |
p. 557-
1 p.
|
artikel
|
| 46 |
Inactivation of the Drosophila TSPO inhibits the mPTP, increases longevity, alters heme metabolism and modulates mitochondrial bioenergetics
|
Lin, Ran
|
|
2012
|
12 |
5 |
p. 580-
1 p.
|
artikel
|
| 47 |
Increased susceptibility to reactive oxygen species in autism lymphoblastoid cells is mediated by mitochondrial dysfunction
|
Rose, Shannon
|
|
2012
|
12 |
5 |
p. 562-
1 p.
|
artikel
|
| 48 |
In vivo localization and quantification of mitochondrial dysfunction using PET imaging of the novel voltage sensor 18F-FBnTP
|
Madar, Igal
|
|
2012
|
12 |
5 |
p. 569-
1 p.
|
artikel
|
| 49 |
Joint effects of pinacidil and Ca2+ on succinate-energized rat heart mitochondria
|
Korotkov, Sergey M.
|
|
2012
|
12 |
5 |
p. 569-
1 p.
|
artikel
|
| 50 |
Leber Hereditary Optic Neuropathy (LHON) associated mutation 3394 is also a high-altitude adaptive polymorphism
|
Alves, Leonardo S.
|
|
2012
|
12 |
5 |
p. 584-
1 p.
|
artikel
|
| 51 |
Long-term safety of dichloroacetate in congenital lactic acidosis
|
Abdelmalak, Monica
|
|
2012
|
12 |
5 |
p. 557-
1 p.
|
artikel
|
| 52 |
Low level of MtDNA mutation promotes mitochondrial bioenergetics and oxidative metabolism via retrograde signaling
|
Srivastava, Sarika
|
|
2012
|
12 |
5 |
p. 553-
1 p.
|
artikel
|
| 53 |
MELAS and l-arginine therapy —therapeutic timing and long term effects
|
Koga, Yasutoshi
|
|
2012
|
12 |
5 |
p. 551-
1 p.
|
artikel
|
| 54 |
Metabolic adaptations in neurons with complex IV deficiency
|
Diaz, Francisca
|
|
2012
|
12 |
5 |
p. 585-
1 p.
|
artikel
|
| 55 |
Misplaced mitochondria in a human myopathy
|
Fujioka, Hisashi
|
|
2012
|
12 |
5 |
p. 574-575
2 p.
|
artikel
|
| 56 |
Mitochondrial defects in Rett syndrome
|
Gold, W.A.
|
|
2012
|
12 |
5 |
p. 576-577
2 p.
|
artikel
|
| 57 |
Mitochondrial disorders and autism: A new avenue of research on movement
|
Parker, Mary Elizabeth
|
|
2012
|
12 |
5 |
p. 568-569
2 p.
|
artikel
|
| 58 |
Mitochondrial DNA damage contributes to premature aging through p53-dependent response mechanisms
|
Pickrell, Alicia M.
|
|
2012
|
12 |
5 |
p. 565-566
2 p.
|
artikel
|
| 59 |
Mitochondrial DNA depleted mouse B cells are defective in the response to antigen-stimulation
|
Chon, Hyongi
|
|
2012
|
12 |
5 |
p. 590-
1 p.
|
artikel
|
| 60 |
Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) in a Japanese child: Clinical, radiological and molecular genetic analysis
|
Selim, Laila
|
|
2012
|
12 |
5 |
p. 569-570
2 p.
|
artikel
|
| 61 |
Mitochondrial fission–fusion activities regulate cell fate determination between proliferation and differentiation: A possible link to tumorigenesis
|
Mitra, Kasturi
|
|
2012
|
12 |
5 |
p. 579-
1 p.
|
artikel
|
| 62 |
Mitochondrial gene therapy improves respiration and biogenesis in mitochondrial diseases of children and adults
|
Iyer, Shilpa
|
|
2012
|
12 |
5 |
p. 559-560
2 p.
|
artikel
|
| 63 |
Mitochondrial genome variability within the Candida parapsilosis species complex
|
Valach, Matus
|
|
2012
|
12 |
5 |
p. 514-519
6 p.
|
artikel
|
| 64 |
Mitogenomic analysis of the genus Pseudois: Evidence of adaptive evolution of morphological variation in the ATP synthase genes
|
Peng, Quekun
|
|
2012
|
12 |
5 |
p. 500-505
6 p.
|
artikel
|
| 65 |
MitoNuc2Dx — Analyzing the mitochondrial genes encoded in the nuclear genome to assess their possible association with mitochondrial disorders
|
Sommer, Steve S.
|
|
2012
|
12 |
5 |
p. 586-587
2 p.
|
artikel
|
| 66 |
Molecular base of biochemical complex I deficiency
|
Hoefs, Saskia J.G.
|
|
2012
|
12 |
5 |
p. 520-532
13 p.
|
artikel
|
| 67 |
Multiple mitochondrial electron transport chain enzyme deficiencies associated with a decrease in skeletal muscle coenzyme Q10 status
|
Hargreaves, Iain
|
|
2012
|
12 |
5 |
p. 590-591
2 p.
|
artikel
|
| 68 |
Mutagenesis of mouse mitochondrial DNA
|
Alexeyev, Mikhail
|
|
2012
|
12 |
5 |
p. 550-
1 p.
|
artikel
|
| 69 |
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation
|
Hershman, Steven G.
|
|
2012
|
12 |
5 |
p. 583-
1 p.
|
artikel
|
| 70 |
NADH fluorescence lifetime as an intrinsic biomarker of the metabolic change during osteogenic differentiation of human mesenchymal stem cells (hMSCs)
|
Guo, Han Wen
|
|
2012
|
12 |
5 |
p. 589-590
2 p.
|
artikel
|
| 71 |
NextGen Sequencing of the complete mtDNA genome: 20% estimated positive cases among recent 117 patients
|
Buzin, Carolyn H.
|
|
2012
|
12 |
5 |
p. 585-586
2 p.
|
artikel
|
| 72 |
Nicotine affects mitochondrial dynamics and function by modulating nicotinic acetylcholine receptor (nAChR) α3β4 and via nAChR independent mechanisms
|
DiPerna, Danielle
|
|
2012
|
12 |
5 |
p. 552-
1 p.
|
artikel
|
| 73 |
No evidence of cognitive decline among carrier relatives of MELAS patients
|
Hinton, Veronica J.
|
|
2012
|
12 |
5 |
p. 565-
1 p.
|
artikel
|
| 74 |
Novel phenotype associated with OPA1 mutations?
|
Tesařová, Markéta
|
|
2012
|
12 |
5 |
p. 559-
1 p.
|
artikel
|
| 75 |
OPA3, a new regulator of mitochondrial fission?
|
Maresca, Alessandra
|
|
2012
|
12 |
5 |
p. 571-
1 p.
|
artikel
|
| 76 |
Optimizing patient care and outcome measures: which complaints are most burdensome to patients and their parents?
|
Koene, Saskia
|
|
2012
|
12 |
5 |
p. 550-551
2 p.
|
artikel
|
| 77 |
Partial inhibition of complex I does not prevent reverse flow-induced ROS generation
|
Ross, Thomas
|
|
2012
|
12 |
5 |
p. 582-583
2 p.
|
artikel
|
| 78 |
PCR-based targeted enrichment and next-generation sequencing of 101 nuclear genes for the diagnosis of mitochondrial disorders
|
Bai, Renkui
|
|
2012
|
12 |
5 |
p. 589-
1 p.
|
artikel
|
| 79 |
PCR-based target sequence enrichment and next generation sequencing of 24 nuclear genes for the diagnosis of mitochondrial disorders: Yield of 262 cases
|
Bai, Renkui
|
|
2012
|
12 |
5 |
p. 588-589
2 p.
|
artikel
|
| 80 |
PDHA1 mutations and continued clinical and genetic heterogeneity: Are there gender differences?
|
Tang, Sha
|
|
2012
|
12 |
5 |
p. 561-
1 p.
|
artikel
|
| 81 |
Phase 3 trial of coenzyme Q10 in children with mitochondrial diseases
|
Stacpoole, Peter W.
|
|
2012
|
12 |
5 |
p. 556-
1 p.
|
artikel
|
| 82 |
Phase 3 trial of dichloroacetate for pyruvate dehydrogenase complex deficiency
|
Stacpoole, Peter W.
|
|
2012
|
12 |
5 |
p. 556-557
2 p.
|
artikel
|
| 83 |
Phenylbutyrate therapy for pyruvate dehydrogenase deficiency
|
Ferriero, Rosa
|
|
2012
|
12 |
5 |
p. 572-573
2 p.
|
artikel
|
| 84 |
Rapid breath test for in vivo determination of human pyruvate dehydrogenase complex activity
|
Stacpoole, Peter W.
|
|
2012
|
12 |
5 |
p. 553-
1 p.
|
artikel
|
| 85 |
Rapid genetic diagnosis and pyruvate therapy for mitochondrial diseases
|
Tanaka, Masashi
|
|
2012
|
12 |
5 |
p. 580-581
2 p.
|
artikel
|
| 86 |
Regulation of superoxide dismutase 1 in intermembrane space of mitochondria
|
Suzuki, Yutaka
|
|
2012
|
12 |
5 |
p. 574-
1 p.
|
artikel
|
| 87 |
Repeated regions in mitochondrial genomes: Distribution, origin and evolutionary significance
|
Nardi, Francesco
|
|
2012
|
12 |
5 |
p. 483-491
9 p.
|
artikel
|
| 88 |
Re-purposing small-molecule drugs to treat the mitochondrial disease Friedreich's ataxia
|
Sahdeo, Sunil
|
|
2012
|
12 |
5 |
p. 571-572
2 p.
|
artikel
|
| 89 |
Screening of the most common mitochondrial DNA mutations among Egyptian pediatric patients with mitochondrial disorders: A one year study
|
Mehaney, Dina
|
|
2012
|
12 |
5 |
p. 570-
1 p.
|
artikel
|
| 90 |
Searching for genetic modifiers of Leber's hereditary optic neuropathy penetrance
|
Caporali, Leonardo
|
|
2012
|
12 |
5 |
p. 572-
1 p.
|
artikel
|
| 91 |
Segregation of donor cell mitochondrial DNA in gaur–bovine interspecies somatic cell nuclear transfer embryos, fetuses and an offspring
|
Imsoonthornruksa, Sumeth
|
|
2012
|
12 |
5 |
p. 506-513
8 p.
|
artikel
|
| 92 |
Specific hypersensitivity to volatile anesthetics in a mouse lacking Ndufs4, a subunit of mitochondrial complex I
|
Morgan, Phil G.
|
|
2012
|
12 |
5 |
p. 566-567
2 p.
|
artikel
|
| 93 |
Spontaneous elimination of mitochondrial mutations during the induction of pluripotency
|
Sondheimer, Neal
|
|
2012
|
12 |
5 |
p. 553-554
2 p.
|
artikel
|
| 94 |
Structural studies of Dnm1/Drp1 provide mechanistic insight into mitochondrial fission
|
Alvarez, Frances Joan D.
|
|
2012
|
12 |
5 |
p. 573-574
2 p.
|
artikel
|
| 95 |
Targeted exome sequencing of suspected mitochondrial disorders in a hospital-based cohort
|
Lieber, Daniel S.
|
|
2012
|
12 |
5 |
p. 575-576
2 p.
|
artikel
|
| 96 |
Tempol as a potential protective agent for nucleoside reverse transcriptase inhibitor (NRTI)-induced mitochondrial toxicity
|
Liu, Yongmin
|
|
2012
|
12 |
5 |
p. 557-558
2 p.
|
artikel
|
| 97 |
The comparative study of actin and myosin genes in Molgula manhattensis, Styela clava, and Limulus polyphemus: Implication on mitochondrial DNA maintenance
|
Baker, Caitlin A.
|
|
2012
|
12 |
5 |
p. 551-552
2 p.
|
artikel
|
| 98 |
The future is now: Oocyte plasmic exchange for aged oocytes
|
Tanaka, Atsushi
|
|
2012
|
12 |
5 |
p. 580-
1 p.
|
artikel
|
| 99 |
The maternal mtDNA mutation load heavily influences phenotypes in mtDNA mutator mice
|
Stewart, James B.
|
|
2012
|
12 |
5 |
p. 578-
1 p.
|
artikel
|
| 100 |
The molecular etiology of Progressive External Ophthalmoplegia (PEO) associated with mitochondrial myopathy
|
Tang, Sha
|
|
2012
|
12 |
5 |
p. 560-561
2 p.
|
artikel
|
| 101 |
The neurogenic basic helix-loop-helix transcription factor neurod6 induces mitochondrial biogenesis and bioenergetics in neuronal cells
|
Uittenbogaard, Martine
|
|
2012
|
12 |
5 |
p. 555-
1 p.
|
artikel
|
| 102 |
The residual deoxycytidine phosphorylating activity of thymidine kinase 2 may determine differences in clinical manifestations of thymidine kinase 2 deficiency
|
Amiri, Marjan
|
|
2012
|
12 |
5 |
p. 562-
1 p.
|
artikel
|
| 103 |
The role of a taurine-containing wobble modification deficiency in MELAS
|
Jong, Chian Ju
|
|
2012
|
12 |
5 |
p. 554-555
2 p.
|
artikel
|
| 104 |
Thymidine kinase 2 deficiency-induced mtDNA depletion in liver leads to defect β-oxidation and insufficient supply of ketone bodies and glucose for brain function
|
Curbo, Sophie
|
|
2012
|
12 |
5 |
p. 561-562
2 p.
|
artikel
|
| 105 |
Thymidine phosphorylation by transgene expression of the Drosophila melanogaster nucleoside kinase rescues the pathology of mitochondrial TK2 deficiency
|
Krishnan, Shuba
|
|
2012
|
12 |
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