| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A bioenergetic profile of non-transformed fibroblasts uncovers a link between death-resistance and enhanced spare respiratory capacity
|
Nickens, Kristen P.
|
|
2013
|
13 |
6 |
p. 662-667
6 p.
|
artikel
|
| 2 |
Acute, pharmacologic inhibition of the mitochondrial pyruvate carrier enhances cellular glucose uptake and potentiates metabolic flexibility
|
Divakaruni, Ajit S.
|
|
2013
|
13 |
6 |
p. 939-
1 p.
|
artikel
|
| 3 |
Adult-onset dilated cardiomyopathy as the primary manifestation of mitochondrial m.3243A>G mutation with heart-specific high mutation load
|
Arjona, Dolores
|
|
2013
|
13 |
6 |
p. 936-
1 p.
|
artikel
|
| 4 |
A genome-wide RNAi screening to identify new genes involved in mitochondrial diseases
|
Sanz, Alberto
|
|
2013
|
13 |
6 |
p. 944-
1 p.
|
artikel
|
| 5 |
A human reprogrammed-cell model of MELAS
|
Ambasudhan, Rajesh
|
|
2013
|
13 |
6 |
p. 943-944
2 p.
|
artikel
|
| 6 |
Allotopic expression of algal ATP6 improves longevity and locomotor functions in a Drosophila mitochondrial encephalomyopathy model
|
Chiu, Wai Kan (Karen)
|
|
2013
|
13 |
6 |
p. 906-907
2 p.
|
artikel
|
| 7 |
A mitochondrial DNA variant 10398G>A in breast cancer among South Indians: An original study with meta-analysis
|
Francis, Amirtharaj
|
|
2013
|
13 |
6 |
p. 559-565
7 p.
|
artikel
|
| 8 |
A mouse model of mitochondrial myopathy and sideroblastic anemia
|
Elkes, Johnathon
|
|
2013
|
13 |
6 |
p. 915-916
2 p.
|
artikel
|
| 9 |
Analysis of mtDNA multiple deletions in 209 muscle specimens using massively parallel sequencing (MPS)
|
Li, Fang-Yuan
|
|
2013
|
13 |
6 |
p. 932-
1 p.
|
artikel
|
| 10 |
A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms
|
Wray, Carter D.
|
|
2013
|
13 |
6 |
p. 656-661
6 p.
|
artikel
|
| 11 |
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
|
Ortega-Recalde, Oscar
|
|
2013
|
13 |
6 |
p. 749-754
6 p.
|
artikel
|
| 12 |
A novel SUCLA2 mutation in a Portuguese patient
|
Nogueira, Célia
|
|
2013
|
13 |
6 |
p. 914-
1 p.
|
artikel
|
| 13 |
Application of 2D BN/SDS-PAGE coupled with mass spectrometry for identification of VDAC-associated protein complexes related to mitochondrial binding sites for type I brain hexokinase
|
Crepaldi, Carla Rossini
|
|
2013
|
13 |
6 |
p. 823-830
8 p.
|
artikel
|
| 14 |
A specific combination of phytoestrogens ameliorates the mitochondrial dysfunction in Leber's hereditary optic neuropathy
|
Pisano, Annalinda
|
|
2013
|
13 |
6 |
p. 910-
1 p.
|
artikel
|
| 15 |
Autosomal-recessive Kearns–Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defect
|
Wilichowski, Ekkehard
|
|
2013
|
13 |
6 |
p. 921-922
2 p.
|
artikel
|
| 16 |
BCoR-L1: an X-linked transcriptional co-repressor in which mutations cause multi-systemic mitochondrial disease with mtDNA depletion
|
Sheldon, Claire A.
|
|
2013
|
13 |
6 |
p. 937-
1 p.
|
artikel
|
| 17 |
Bendavia, a novel peptide that improves mitochondrial function and reverses diabetes visual decline
|
Alam, Nazia
|
|
2013
|
13 |
6 |
p. 918-
1 p.
|
artikel
|
| 18 |
Berberine reverts hepatic mitochondrial dysfunction in high-fat fed rats: A possible role for SirT3 activation
|
Teodoro, João Soeiro
|
|
2013
|
13 |
6 |
p. 637-646
10 p.
|
artikel
|
| 19 |
Bezafibrate as treatment option in patients with mitochondrial complex I deficiency
|
Freisinger, P.
|
|
2013
|
13 |
6 |
p. 920-921
2 p.
|
artikel
|
| 20 |
Bioenergetic profiling of human breast cancer: Unusual organization of the respiratory chain
|
Koit, Andre
|
|
2013
|
13 |
6 |
p. 922-
1 p.
|
artikel
|
| 21 |
Caenorhabditis elegans ATR checkpoint kinase ATL-1 influences life span through mitochondrial maintenance
|
Suetomi, Kazuhiro
|
|
2013
|
13 |
6 |
p. 729-735
7 p.
|
artikel
|
| 22 |
Capacity for oxidative phosphorylation does not decline with age in mitochondria from ndufs4 knockout mice
|
Kayser, Ernst-Bernhard
|
|
2013
|
13 |
6 |
p. 915-
1 p.
|
artikel
|
| 23 |
Cd(2+)-induced injury of rat ascites hepatoma AS-30D cells: A possible involvement of Ca(2+)-activated large-conductance potassium channels
|
Belyaeva, Elena A.
|
|
2013
|
13 |
6 |
p. 927-
1 p.
|
artikel
|
| 24 |
Cellular and bioenergetic dysfunction induced by loss of the Wolfram Syndrome protein, Miner1, can be reversed by treatment with N-acetylcysteine
|
Wiley, Sandra E.
|
|
2013
|
13 |
6 |
p. 940-
1 p.
|
artikel
|
| 25 |
CHCHD2, a bi-genomic regulator of mitochondrial metabolism
|
Aras, Siddhesh
|
|
2013
|
13 |
6 |
p. 913-
1 p.
|
artikel
|
| 26 |
Chemically-induced specification of retinal ganglion cells from human embryonic and induced pluripotent stem cells
|
Riazifar, Hamidreza
|
|
2013
|
13 |
6 |
p. 903-
1 p.
|
artikel
|
| 27 |
Chronic progressive external ophthalmoplegia — Disease mechanisms and clinical outcome measures
|
Griffiths, Philip G.
|
|
2013
|
13 |
6 |
p. 901-902
2 p.
|
artikel
|
| 28 |
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT
|
Neeve, Vivienne C.M.
|
|
2013
|
13 |
6 |
p. 743-748
6 p.
|
artikel
|
| 29 |
Clinical exome sequencing leads to the diagnosis of mitochondrial complex I deficiency in a family with global developmental delays, ataxia, and cerebellar and pons hypoplasia
|
Kimonis, Virginia
|
|
2013
|
13 |
6 |
p. 942-
1 p.
|
artikel
|
| 30 |
Clinical features and progression of cardiomyopathy in patients with Friedreich's ataxia
|
Pureza, Vincent
|
|
2013
|
13 |
6 |
p. 925-
1 p.
|
artikel
|
| 31 |
Clinical re-sequencing for the diagnosis of mitochondrial disorders reveals high genetic heterogeneity
|
DaRe, Jeana T.
|
|
2013
|
13 |
6 |
p. 911-912
2 p.
|
artikel
|
| 32 |
Cofactor defects as a cause of mitochondrial encephalomyopathies
|
Mayr, J.A.
|
|
2013
|
13 |
6 |
p. 908-
1 p.
|
artikel
|
| 33 |
Comparative aspects of bioenergetic profiling of tumor clinical material and cell cultures
|
Shevchuk, Igor
|
|
2013
|
13 |
6 |
p. 907-
1 p.
|
artikel
|
| 34 |
Complex I and its importance in Parkinson's disease: A review of the literature
|
Narayanan, Chockalingam A.
|
|
2013
|
13 |
6 |
p. 923-
1 p.
|
artikel
|
| 35 |
Corrigendum to ‘Design and Implementation of the First Randomized Controlled Trial of Coenzyme Q10 in Children with Primary Mitochondrial Diseases’ [Mitochondrion 12/6 (2012) 623–629]
|
Stacpoole, Peter W.
|
|
2013
|
13 |
6 |
p. 953-
1 p.
|
artikel
|
| 36 |
Deciphering the respiratory Complex I assembly pathway
|
Vartak, Rasika
|
|
2013
|
13 |
6 |
p. 917-
1 p.
|
artikel
|
| 37 |
Decreased exhaled nitric oxide levels in patients with mitochondrial disorders
|
Mosquera, Ricardo A.
|
|
2013
|
13 |
6 |
p. 905-906
2 p.
|
artikel
|
| 38 |
Defective thiolation impairs mitochondrial translation offering a therapy approach in reversible infantile respiratory chain deficiency
|
Boczonadi, Veronika
|
|
2013
|
13 |
6 |
p. 902-
1 p.
|
artikel
|
| 39 |
Detection of preclinically latent hyperperfusion due to stroke-like episodes by arterial spin-labeling perfusion MRI in MELAS patients
|
Ikawa, Masamichi
|
|
2013
|
13 |
6 |
p. 676-680
5 p.
|
artikel
|
| 40 |
Developmental exposure to ultraviolet C radiation results in altered energy production later in life in Caenorhabditis elegans
|
Rooney, John P.
|
|
2013
|
13 |
6 |
p. 922-
1 p.
|
artikel
|
| 41 |
Development of a high-throughput screen for discovery of LHON therapeutics
|
Datta, Sandipan
|
|
2013
|
13 |
6 |
p. 928-
1 p.
|
artikel
|
| 42 |
Diet influences the intake target and mitochondrial functions of Drosophila melanogaster males
|
Pichaud, Nicolas
|
|
2013
|
13 |
6 |
p. 817-822
6 p.
|
artikel
|
| 43 |
Discovery of modulators of oxygen consumption for use in mitochondrial disease
|
Sahdeo, Sunil
|
|
2013
|
13 |
6 |
p. 918-
1 p.
|
artikel
|
| 44 |
Dissecting the pathways to increase mitochondrial biogenesis for the treatment of mitochondrial myophathies
|
Peralta, Susana
|
|
2013
|
13 |
6 |
p. 916-917
2 p.
|
artikel
|
| 45 |
Dual control of mitochondrial biogenesis by sirtuin 1 and sirtuin 3
|
Brenmoehl, Julia
|
|
2013
|
13 |
6 |
p. 755-761
7 p.
|
artikel
|
| 46 |
Editorial Board
|
|
|
2013
|
13 |
6 |
p. IFC-
1 p.
|
artikel
|
| 47 |
Effect on glycolysis and glucose transporters of transplanted isolated normal mitochondria from MCF-12A cells into breast cancer cells
|
Elliott, Robert L.
|
|
2013
|
13 |
6 |
p. 940-941
2 p.
|
artikel
|
| 48 |
Effects of anesthesia in patients with primary mitochondrial disorders
|
Song, Shiwei
|
|
2013
|
13 |
6 |
p. 908-
1 p.
|
artikel
|
| 49 |
Elucidating the role of mitochondrial Tdp1 in response to oxidative stress
|
Fam, Hok Khim
|
|
2013
|
13 |
6 |
p. 916-
1 p.
|
artikel
|
| 50 |
Enhanced detection sensitivity and diagnostic yield for mtDNA deletion syndrome by massively parallel sequencing
|
Wang, Guo-Li
|
|
2013
|
13 |
6 |
p. 924-
1 p.
|
artikel
|
| 51 |
Enzymes involved in l-lactate metabolism in humans
|
Adeva, M.
|
|
2013
|
13 |
6 |
p. 615-629
15 p.
|
artikel
|
| 52 |
Evolutionarily conserved motifs and modules in mitochondrial protein–protein interaction networks
|
Jafari, Mohieddin
|
|
2013
|
13 |
6 |
p. 668-675
8 p.
|
artikel
|
| 53 |
Exome sequencing as an approach to identify disease causing mutations in pediatric patients with mitochondrial diseases
|
Haack, T.
|
|
2013
|
13 |
6 |
p. 920-
1 p.
|
artikel
|
| 54 |
Exonuclease of human DNA polymerase gamma disengages its strand displacement function
|
He, Quan
|
|
2013
|
13 |
6 |
p. 592-601
10 p.
|
artikel
|
| 55 |
Failure to thrive in children with mitochondrial diseases
|
Wolfe, Lynne A.
|
|
2013
|
13 |
6 |
p. 935-
1 p.
|
artikel
|
| 56 |
FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy
|
Gai, Xiaowu
|
|
2013
|
13 |
6 |
p. 939-940
2 p.
|
artikel
|
| 57 |
FGF-21 secretion and ketogenic enzyme expression are hallmarks of chronic energy deficiency in human skeletal muscles depleted of iron sulfur clusters
|
Crooks, Daniel R.
|
|
2013
|
13 |
6 |
p. 904-
1 p.
|
artikel
|
| 58 |
First-line genetic testing for mitochondrial disorders in the next-generation sequencing era: Comprehensive known disease gene panel or exome sequencing?
|
Bai, Renkui
|
|
2013
|
13 |
6 |
p. 934-
1 p.
|
artikel
|
| 59 |
Generation of patient-specific differentiated cells from fibroblast-derived hiPSCs for studying treatment of mitochondrial disease
|
Ainza, Carlos A.
|
|
2013
|
13 |
6 |
p. 931-932
2 p.
|
artikel
|
| 60 |
Hepatic cirrhosis & neurological deficits in a male with de novo heteroplasmic mitochondrial DNA mutation
|
Niyazov, D.
|
|
2013
|
13 |
6 |
p. 938-
1 p.
|
artikel
|
| 61 |
Heteroplasmic ATPase 6 T8993A mutation and mitochondrial disease: A novel mutation present in muscle, blood, saliva, urine and fibroblasts
|
Nakayama, Tomohiro
|
|
2013
|
13 |
6 |
p. 929-
1 p.
|
artikel
|
| 62 |
Hybridisation, paternal leakage and mitochondrial DNA linearization in three anomalous fish (Scombridae)
|
Morgan, Jess A.T.
|
|
2013
|
13 |
6 |
p. 852-861
10 p.
|
artikel
|
| 63 |
Idebenone treatment for Leber hereditary optic neuropathy — Past, present, and future
|
Yu-Wai-Man, Patrick
|
|
2013
|
13 |
6 |
p. 901-
1 p.
|
artikel
|
| 64 |
Impact of low temperature on splicing of atypical group II introns in wheat mitochondria
|
Dalby, Stephen J.
|
|
2013
|
13 |
6 |
p. 647-655
9 p.
|
artikel
|
| 65 |
Improved diagnosis of mitochondrial disorders by next generation sequencing approach
|
Wong, Lee-Jun
|
|
2013
|
13 |
6 |
p. 932-933
2 p.
|
artikel
|
| 66 |
Inheritance of mtDNA heteroplasmy: Does Kimura's solution work?
|
Chalkia, Dimitra
|
|
2013
|
13 |
6 |
p. 930-
1 p.
|
artikel
|
| 67 |
Interactions between peptidyl tRNA hydrolase homologs and the ribosomal release factor Mrf1 in S. pombe mitochondria
|
Dujeancourt, Laurent
|
|
2013
|
13 |
6 |
p. 871-880
10 p.
|
artikel
|
| 68 |
La3+ and bivalent metals inhibited Tl+-induced mitochondrial permeability transition pore
|
Brailovskaya, Irina V.
|
|
2013
|
13 |
6 |
p. 926-
1 p.
|
artikel
|
| 69 |
Lessons learned from the analyses of 1500 mitochondrial genomes by NGS
|
Zhang, Victor Wei
|
|
2013
|
13 |
6 |
p. 917-918
2 p.
|
artikel
|
| 70 |
Light activation of the insulin receptor regulates mitochondrial hexokinase. A possible mechanism of retinal neuroprotection
|
Rajala, Ammaji
|
|
2013
|
13 |
6 |
p. 566-576
11 p.
|
artikel
|
| 71 |
Lipidomic characterization of streptozotocin-induced heart mitochondrial dysfunction
|
Ferreira, Rita
|
|
2013
|
13 |
6 |
p. 762-771
10 p.
|
artikel
|
| 72 |
Long-term therapy with Bendavia (MTP-131), a novel mitochondria-targeting peptide, normalizes functional mitochondrial abnormalities in left ventricular myocardium of dogs with heart failure
|
Sabbah, Hani N.
|
|
2013
|
13 |
6 |
p. 912-
1 p.
|
artikel
|
| 73 |
Mitochondrial DNA variations in Madras motor neuron disease
|
Govindaraj, Periyasamy
|
|
2013
|
13 |
6 |
p. 721-728
8 p.
|
artikel
|
| 74 |
Mitochondrial dysfunction in autism fibroblasts
|
Coskun, Pinar E.
|
|
2013
|
13 |
6 |
p. 937-938
2 p.
|
artikel
|
| 75 |
Mitochondrial dysfunction in immune cells derived from children with autism spectrum disorder (ASD): A unique metabolic endophenotype of children with ASD
|
Frye, Richard E.
|
|
2013
|
13 |
6 |
p. 910-
1 p.
|
artikel
|
| 76 |
Mitochondrial encephalopathies in epilepsy: A case series
|
Goldstein, Amy C.
|
|
2013
|
13 |
6 |
p. 904-
1 p.
|
artikel
|
| 77 |
Mitochondrial etiologies of chronic pseudo-obstruction and dysmotility in children: A 10year follow-up study
|
Goldstein, Amy
|
|
2013
|
13 |
6 |
p. 904-905
2 p.
|
artikel
|
| 78 |
Mitochondrial gene therapy approaches for understanding and treating Leber's hereditary optic neuropathy
|
Iyer, Shilpa
|
|
2013
|
13 |
6 |
p. 932-
1 p.
|
artikel
|
| 79 |
Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families
|
Zhang, Juanjuan
|
|
2013
|
13 |
6 |
p. 772-781
10 p.
|
artikel
|
| 80 |
Mitochondrial insufficiency is associated with autonomic nervous system dysfunction as confirmed by physiologic Head up Tilt table test (HUTT)
|
Numan, Mohammed
|
|
2013
|
13 |
6 |
p. 918-919
2 p.
|
artikel
|
| 81 |
Mitochondrial myopathy presenting as acute lactic acidosis with motor and sensory axonal polyneuropathy
|
Du, Ailian
|
|
2013
|
13 |
6 |
p. 911-
1 p.
|
artikel
|
| 82 |
Mitochondrial NADH:ubiquinone oxidoreductase alterations are associated with endometriosis
|
Govatati, Suresh
|
|
2013
|
13 |
6 |
p. 782-790
9 p.
|
artikel
|
| 83 |
Mitochondrial NGS panels: Is more better?
|
Platt, Julia
|
|
2013
|
13 |
6 |
p. 919-
1 p.
|
artikel
|
| 84 |
Mitochondrial respiration in blood platelets of depressive patients
|
Hroudová, Jana
|
|
2013
|
13 |
6 |
p. 795-800
6 p.
|
artikel
|
| 85 |
Mitochondrial respiratory chain complex activity and bioenergetic alterations in human platelets derived from pre-symptomatic and symptomatic Huntington's disease carriers
|
Silva, Ana C.
|
|
2013
|
13 |
6 |
p. 801-809
9 p.
|
artikel
|
| 86 |
Mitochondrial response to oxidative and nitrosative stress in early stages of diabetes
|
Noriega-Cisneros, Ruth
|
|
2013
|
13 |
6 |
p. 835-840
6 p.
|
artikel
|
| 87 |
Mitochondrial retrograde signaling at the crossroads of tumor bioenergetics, genetics and epigenetics
|
Guha, Manti
|
|
2013
|
13 |
6 |
p. 577-591
15 p.
|
artikel
|
| 88 |
Mitochondrial SIRT4-type proteins in Caenorhabditis elegans and mammals interact with pyruvate carboxylase and other acetylated biotin-dependent carboxylases
|
Wirth, Martina
|
|
2013
|
13 |
6 |
p. 705-720
16 p.
|
artikel
|
| 89 |
Mitochondrial targeting functional peptides as potential devices for the mitochondrial delivery of a DF-MITO-Porter
|
Kawamura, Eriko
|
|
2013
|
13 |
6 |
p. 610-614
5 p.
|
artikel
|
| 90 |
Mitochondrial translocator protein (TSPO) ligands prevent doxorubicin-induced mechanical dysfunction and cell death in isolated cardiomyocytes
|
de Tassigny, Alexandra d'Anglemont
|
|
2013
|
13 |
6 |
p. 688-697
10 p.
|
artikel
|
| 91 |
Modeling mitochondrial cardiomyopathy using human ANT1 deficient iPSC-derived cardiomyocytes
|
Ortiz-Gonzalez, Xilma R
|
|
2013
|
13 |
6 |
p. 941-942
2 p.
|
artikel
|
| 92 |
Modulation of hepatic redox status and mitochondrial metabolism by exercise: Therapeutic strategy for liver diseases
|
Ascensão, António
|
|
2013
|
13 |
6 |
p. 862-870
9 p.
|
artikel
|
| 93 |
Multiple mtDNA heteroplasmic SNPs as a marker for mitochondrial dysfunction
|
Zare, Amir
|
|
2013
|
13 |
6 |
p. 928-
1 p.
|
artikel
|
| 94 |
Mutations in choline-O-acetyltransferase are associated with treatable cognitive decline, dysautonomia, and adverse medication responses — Time to CHAT with your patients?
|
Wong, Stacey
|
|
2013
|
13 |
6 |
p. 926-927
2 p.
|
artikel
|
| 95 |
Mutations in the complex III assembly factor tetratricopeptide 19 gene TTC19 are a rare cause of Leigh syndrome
|
Atwal, P.S.
|
|
2013
|
13 |
6 |
p. 938-
1 p.
|
artikel
|
| 96 |
N-acetylcysteine reverses the mitochondrial toxicity of very long chain fatty acids (VLCFAs) in murine oligodendrocytes
|
Zhou, Jie
|
|
2013
|
13 |
6 |
p. 934-935
2 p.
|
artikel
|
| 97 |
Next-generation sequencing identifies novel, potentially pathogenic variants in nuclear-encoded respiratory chain subunits not previously implicated in mitochondrial disease
|
Leighton, Justin W.
|
|
2013
|
13 |
6 |
p. 909-910
2 p.
|
artikel
|
| 98 |
Novel c.316G>C mutation in PDHA1 causes PDH deficiency
|
Khouzam, Amirah
|
|
2013
|
13 |
6 |
p. 925-
1 p.
|
artikel
|
| 99 |
Novel disease associations and novel disease-associated genes elucidated among MitoCarta gene sequencing in 183 probands
|
Boles, Richard G.
|
|
2013
|
13 |
6 |
p. 928-929
2 p.
|
artikel
|
| 100 |
Novel mutation in the mitochondrial transfer RNACys gene in a child with vomiting and migraine
|
Almeida, Lígia S.
|
|
2013
|
13 |
6 |
p. 933-
1 p.
|
artikel
|
| 101 |
Nuclear genome transfer in human oocytes to prevent transmission of mtDNA mutations
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Paull, Daniel
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2013
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13 |
6 |
p. 898-899
2 p.
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artikel
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| 102 |
Optic nerve histopathology in a case of Wolfram Syndrome: A mitochondrial pattern of axonal loss
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Ross-Cisneros, Fred N.
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2013
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13 |
6 |
p. 841-845
5 p.
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artikel
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| 103 |
Oral complex 1 inhibitory challenge reveals diverse human phenotypes
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Berner, Jon E.
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2013
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13 |
6 |
p. 923-924
2 p.
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artikel
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| 104 |
Oxidative stress triggers mitochondrial mediated retrograde signaling by activating its translocation and function switching
|
Miriyala, Sumitra
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2013
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13 |
6 |
p. 907-908
2 p.
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artikel
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| 105 |
Personalized dosing of dichloroacetate based on haplotype variations glutathione transferase zeta 1
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Shroads, A.L.
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2013
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13 |
6 |
p. 906-
1 p.
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artikel
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| 106 |
Phenotype and genotype of deaf patients with combined genomic and mitochondrial inheritance models
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Huang, Shasha
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2013
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13 |
6 |
p. 791-794
4 p.
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artikel
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| 107 |
Phenotypic spectrum of 7 patients and 4 novel MTFMT mutations
|
Freisinger, P.
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2013
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13 |
6 |
p. 920-
1 p.
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artikel
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| 108 |
Phenylbutyrate for therapy of pyruvate dehydrogenase complex deficiency
|
Bourton, Audrey
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2013
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13 |
6 |
p. 916-
1 p.
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artikel
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| 109 |
Photobiomodulation preserves mitochondrial redox state in a rodent model of retinitis pigmentosa
|
Eells, J.T.
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2013
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13 |
6 |
p. 903-
1 p.
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artikel
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| 110 |
Pilot study: Modified Atkins diet trial for adult-onset mitochondrial myopathy
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Ahola-Erkkilä, Sofia
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2013
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13 |
6 |
p. 911-
1 p.
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artikel
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| 111 |
Plasmodium falciparum mitochondrial genetic diversity exhibits isolation-by-distance patterns supporting a sub-Saharan African origin
|
Tanabe, Kazuyuki
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2013
|
13 |
6 |
p. 630-636
7 p.
|
artikel
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| 112 |
Polymorphic mutations in mouse mitochondrial DNA regulate a tumor phenotype
|
Takibuchi, Gaku
|
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2013
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13 |
6 |
p. 881-887
7 p.
|
artikel
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| 113 |
Positive selection along the evolution of primate mitogenomes
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Menezes, Albert N.
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2013
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13 |
6 |
p. 846-851
6 p.
|
artikel
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| 114 |
Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management
|
Parikh, Sumit
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2013
|
13 |
6 |
p. 681-687
7 p.
|
artikel
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| 115 |
Predicted ionisation in mitochondria and observed acute changes in the mitochondrial transcriptome after gamma irradiation: A Monte Carlo simulation and quantitative PCR study
|
Kam, Winnie Wai-Ying
|
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2013
|
13 |
6 |
p. 736-742
7 p.
|
artikel
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| 116 |
Predisposition to infection and SIRS in oxidative phosphorylation disorders: 8years' experience of a New England cohort at Massachusetts General Hospital and partners affiliates
|
Walker, Melissa A.
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2013
|
13 |
6 |
p. 905-
1 p.
|
artikel
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| 117 |
Preserving mitochondrial function during acute coronary syndromes with the mitochondria-targeting peptide Bendavia
|
Brown, David A.
|
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2013
|
13 |
6 |
p. 923-
1 p.
|
artikel
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| 118 |
Preterm birth is associated with mitochondrial DNA variation
|
Chalkia, Dimitra
|
|
2013
|
13 |
6 |
p. 929-930
2 p.
|
artikel
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| 119 |
Preventive SNP–SNP interactions in the mitochondrial displacement loop (D-loop) from chronic dialysis patients
|
Chen, Jin-Bor
|
|
2013
|
13 |
6 |
p. 698-704
7 p.
|
artikel
|
| 120 |
Pyrrole-imidazole polyamide, a synthetic DNA-binding compound, is effective at increasing levels of wild-type mtDNA in both cybrid cells and MELAS patient-derived fibroblast cells with the MELAS A3243G mutation by a selective promotion of wild-type replication
|
Yano, Takamitsu
|
|
2013
|
13 |
6 |
p. 924-925
2 p.
|
artikel
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| 121 |
Redefining Wolfram syndrome in the molecular Era
|
Guthrie, Grant
|
|
2013
|
13 |
6 |
p. 902-
1 p.
|
artikel
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| 122 |
Region specific differences in oxidative phosphorylation in mitochondria from Ndufs4 knockout mice
|
Morgan, Philip G.
|
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2013
|
13 |
6 |
p. 914-915
2 p.
|
artikel
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| 123 |
Regulation of respiration of human colorectal cancer: Application of metabolic control analysis
|
Kaldma, Andrus
|
|
2013
|
13 |
6 |
p. 900-
1 p.
|
artikel
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| 124 |
Respiratory complex I and IV dysfunction is associated with Phelan–McDermid syndrome
|
Frye, Richard E.
|
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2013
|
13 |
6 |
p. 912-913
2 p.
|
artikel
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| 125 |
Resveratrol improves mitochondrial functions in respiratory chain-deficient cells
|
Costa, Alexandra Lopes
|
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2013
|
13 |
6 |
p. 902-903
2 p.
|
artikel
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| 126 |
Role of the mitochondrial protein LRPPRC2 in Drosophila melanogaster
|
Baggio, Francesca
|
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2013
|
13 |
6 |
p. 909-
1 p.
|
artikel
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| 127 |
Sengers syndrome is caused by a deficiency of the acylglycerol kinase
|
Sperl, W.
|
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2013
|
13 |
6 |
p. 909-
1 p.
|
artikel
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| 128 |
Serum Fibroblast Growth Factor 21 (FGF-21) levels: Is there a correlation with disease severity and disease progression in m.3243A>G carriers?
|
Koene, Saskia
|
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2013
|
13 |
6 |
p. 899-
1 p.
|
artikel
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| 129 |
Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome
|
Badura-Stronka, Magdalena
|
|
2013
|
13 |
6 |
p. 831-834
4 p.
|
artikel
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| 130 |
Severe multi-systemic presentation of COX10 deficiency
|
Wilnai, Yael
|
|
2013
|
13 |
6 |
p. 926-
1 p.
|
artikel
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| 131 |
Six minute bicycling test in children with mitochondrial disorders: Feasibility, reliability, validity and responsivity
|
Koene, Saskia
|
|
2013
|
13 |
6 |
p. 899-900
2 p.
|
artikel
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| 132 |
Sleep disordered breathing in children with mitochondrial disease
|
Mosquera, Ricardo A.
|
|
2013
|
13 |
6 |
p. 900-
1 p.
|
artikel
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| 133 |
Specific reduction of mutant mitochondrial genomes load in patient-derived cells by mitoTALENs
|
Bacman, Sandra R.
|
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2013
|
13 |
6 |
p. 917-
1 p.
|
artikel
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| 134 |
Study of insulin resistance in cybrid cells harboring diabetes-susceptible and diabetes-protective mitochondrial haplogroups
|
Weng, Shao-Wen
|
|
2013
|
13 |
6 |
p. 888-897
10 p.
|
artikel
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| 135 |
Summary of the mitochondrial findings in a series of 300 cases
|
Xu, Shiqin
|
|
2013
|
13 |
6 |
p. 936-937
2 p.
|
artikel
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| 136 |
Targeted massively parallel sequencing detects exonic copy number changes in patients with mitochondrial disorders
|
Feng, Yanming
|
|
2013
|
13 |
6 |
p. 924-
1 p.
|
artikel
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| 137 |
The complexity of heterozygous POLG2 mutations associated with human mitochondrial disease
|
Young, Matthew J.
|
|
2013
|
13 |
6 |
p. 930-
1 p.
|
artikel
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| 138 |
The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome
|
El-Hattab, Ayman W.
|
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2013
|
13 |
6 |
p. 898-
1 p.
|
artikel
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| 139 |
The effects of BDNF supplementation on polymerase gamma (POLG) 1 mutator mice
|
Saleem, Ayesha
|
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2013
|
13 |
6 |
p. 933-934
2 p.
|
artikel
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| 140 |
The Mitochondrial Disease Biobank at Mayo Clinic: Three mighty years and counting
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Hasadsri, Linda
|
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2013
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13 |
6 |
p. 913-914
2 p.
|
artikel
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| 141 |
The mitochondrial gas pedal: Cytosolic calcium regulates energization of neuronal mitochondria by formation of pyruvate through the malate aspartate shuttle: Physiological and pathophysiological consequences
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Gellerich, F.N.
|
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2013
|
13 |
6 |
p. 931-
1 p.
|
artikel
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| 142 |
The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype–phenotype correlation
|
Pronicka, Ewa
|
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2013
|
13 |
6 |
p. 810-816
7 p.
|
artikel
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| 143 |
The need for careful diagnosis of congenital myasthenic syndromes with secondary complex I disorders
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Menezes, Minal J.
|
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2013
|
13 |
6 |
p. 906-
1 p.
|
artikel
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| 144 |
The prevention of transmission of mitochondrial DNA mutations using pronuclear transfer
|
Engelstad, Kristin
|
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2013
|
13 |
6 |
p. 927-
1 p.
|
artikel
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| 145 |
The purinergic life threat response: Metabolic features
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Zolkipli, Zarazuela
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2013
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13 |
6 |
p. 942-943
2 p.
|
artikel
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| 146 |
Therapy for mitochondrial diseases: An investigation into the potential to stimulate Parkin-mediated mitophagy
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Pickrell, Alicia M
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2013
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13 |
6 |
p. 943-
1 p.
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artikel
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| 147 |
The role of an unconventional ribosomal protein in mitochondrial function
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Richman, Tara R.
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2013
|
13 |
6 |
p. 907-
1 p.
|
artikel
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| 148 |
The role of Parkin in the clearance of defective mitochondria with deleted mtDNA in the CNS
|
Milena, Pinto
|
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2013
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13 |
6 |
p. 935-
1 p.
|
artikel
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| 149 |
Thiamine-pyrophosphokinase-deficiency: Clinical and genotypic spectrum in 5 patients
|
Freisinger, P.
|
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2013
|
13 |
6 |
p. 921-
1 p.
|
artikel
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| 150 |
Towards harmonization of outcome measures in children with mitochondrial disorders
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Koene, Saskia
|
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2013
|
13 |
6 |
p. 899-
1 p.
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artikel
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| 151 |
Translational research in primary mitochondrial diseases: Challenges and opportunities
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Moraes, Carlos T.
|
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2013
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13 |
6 |
p. 945-952
8 p.
|
artikel
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| 152 |
Trapping and study of individual mitochondria using nanofluidic technology
|
Zand, Katayoun
|
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2013
|
13 |
6 |
p. 943-
1 p.
|
artikel
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| 153 |
Type II Fp of human mitochondrial respiratory complex II and its role in adaptation to hypoxia and nutrition-deprived conditions
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Sakai, Chika
|
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2013
|
13 |
6 |
p. 602-609
8 p.
|
artikel
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| 154 |
Utilization of clinical diagnostic exome sequencing for the molecular diagnosis of mitochondrial disorders and therapeutic implications
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Tang, Sha
|
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2013
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13 |
6 |
p. 919-920
2 p.
|
artikel
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| 155 |
Utilizing dynamically regulated phosphorylation as a means to modulate mitochondrial metabolism
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Niemi, Natalie M.
|
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2013
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13 |
6 |
p. 944-
1 p.
|
artikel
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| 156 |
Whole mitochondrial genome amplification and next generation sequencing for the diagnosis of mitochondrial disorders: Yield of 613 cases
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Bai, Renkui
|
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2013
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13 |
6 |
p. 935-936
2 p.
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artikel
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