| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
AAV2-mediated delivery of nucleic acid or protein to the mitochondrial matrix as a treatment for Lebers Hereditary Optic Neuropathy
|
Huston, Marshall W.
|
|
2015
|
24 |
S |
p. S24-
1 p.
|
artikel
|
| 2 |
Absence of microRNA-155 augments cardiac injury during ischemia–reperfusion
|
Szczepanek, Karol
|
|
2015
|
24 |
S |
p. S34-
1 p.
|
artikel
|
| 3 |
A case of canine mitochondrial myopathy with cardiomyopathy
|
Diane Shelton, G.
|
|
2015
|
24 |
S |
p. S40-
1 p.
|
artikel
|
| 4 |
A common data language for clinical research studies: The National Institute of Neurological Disorders and Stroke (NINDS) Mitochondrial Disease Common Data Elements (CDE) publication of version 1.0 recommendations
|
Odenkirchen, Joanne
|
|
2015
|
24 |
S |
p. S10-S11
2 p.
|
artikel
|
| 5 |
Advantages of highly sensitive NGS based test to detect low levels of mtDNA mutations and large deletions
|
Yu, Hui
|
|
2015
|
24 |
S |
p. S44-S45
2 p.
|
artikel
|
| 6 |
An Ugo1-like protein is associated with optic atrophy ‘plus’ disorders
|
Abrams, Alexander J.
|
|
2015
|
24 |
S |
p. S16-
1 p.
|
artikel
|
| 7 |
A review of the natural history of Leigh syndrome
|
Haj-Ismail, Nadia
|
|
2015
|
24 |
S |
p. S12-
1 p.
|
artikel
|
| 8 |
Arts and engineering produce exhibits to promote mitochondrial health
|
Faris, Sarah
|
|
2015
|
24 |
S |
p. S43-
1 p.
|
artikel
|
| 9 |
Assessing mitochondrial function in OC1 and PK1 cells treated with gentamicin and MitoQ
|
Dirain, Carolyn O.
|
|
2015
|
24 |
S |
p. S35-
1 p.
|
artikel
|
| 10 |
A 15year-old girl with progressive epileptic encephalopathy, progressive myoclonus, and compound heterozygous FARS2 mutations
|
Walker, Melissa A.
|
|
2015
|
24 |
S |
p. S13-S14
2 p.
|
artikel
|
| 11 |
Best practices to convey complex information to patients with mitochondrial disease
|
McCormick, Elizabeth M.
|
|
2015
|
24 |
S |
p. S8-
1 p.
|
artikel
|
| 12 |
Between Scylla and Charybdis: Navigating the straits of clinical trials from drug discovery to drug approval
|
Stacpoole, Peter
|
|
2015
|
24 |
S |
p. S9-
1 p.
|
artikel
|
| 13 |
Biochemical characterization of PolG exonuclease disease mutations
|
DeBalsi, Karen L.
|
|
2015
|
24 |
S |
p. S36-
1 p.
|
artikel
|
| 14 |
Can Informed consent truly be achieved in the clinical-research continuum of genetic diagnostic testing for mitochondrial disease?
|
Boles, Richard G.
|
|
2015
|
24 |
S |
p. S8-S9
2 p.
|
artikel
|
| 15 |
Cardiac endoplasmic reticulum stress and permeability transition opening
|
Thompson, Jeremy
|
|
2015
|
24 |
S |
p. S30-
1 p.
|
artikel
|
| 16 |
Cardiac injury: Role of mitochondrial calpain 1 activation
|
Thompson, Jeremy
|
|
2015
|
24 |
S |
p. S29-
1 p.
|
artikel
|
| 17 |
Cardiac ischemia: Electron transport chain damages intermediary metabolism
|
Younus, Masood
|
|
2015
|
24 |
S |
p. S33-
1 p.
|
artikel
|
| 18 |
Characterizing the human mitochondrial proteome using a genome-wide functional linkage network
|
Zarkoob, Hadi
|
|
2015
|
24 |
S |
p. S26-
1 p.
|
artikel
|
| 19 |
Chronic pain, fatigue, GI dysmotility and the mitochondrial chaperone TRAP1
|
Boles, Richard G.
|
|
2015
|
24 |
S |
p. S24-
1 p.
|
artikel
|
| 20 |
Clarifying the mitochondrial phenotype of NGLY1 deficiency
|
Latham, Lea
|
|
2015
|
24 |
S |
p. S43-S44
2 p.
|
artikel
|
| 21 |
Clinical, biochemical and genetic spectrum of mitochondrial disorders in Egyptian children: A study of 17 cases
|
Selim, Laila
|
|
2015
|
24 |
S |
p. S20-
1 p.
|
artikel
|
| 22 |
Cofactor deficiency in mitochondrial diseases
|
Mataković, Lavinija
|
|
2015
|
24 |
S |
p. S25-S26
2 p.
|
artikel
|
| 23 |
Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis
|
Mori, Mari
|
|
2015
|
24 |
S |
p. S14-
1 p.
|
artikel
|
| 24 |
Complex IV compensation in Leber Hereditary Optic Neuropathy unaffected carriers
|
Sanchez, Isabel Lopez
|
|
2015
|
24 |
S |
p. S21-
1 p.
|
artikel
|
| 25 |
Comprehensive functional OXPHOS testing: Respiratory and hydrogen peroxide fluxes in intact cells and mitochondrial preparations
|
Krumschnabel, Gerhard
|
|
2015
|
24 |
S |
p. S34-
1 p.
|
artikel
|
| 26 |
CX9C proteins: Stress-responsive IMS regulators and disease modifiers
|
Aras, Siddhesh
|
|
2015
|
24 |
S |
p. S23-S24
2 p.
|
artikel
|
| 27 |
Cyclophilin-D: A Novel regulator of mitochondrial gene expression
|
Radhakrishnan, Jeejabai
|
|
2015
|
24 |
S |
p. S24-S25
2 p.
|
artikel
|
| 28 |
Deregulation of FASN and methylation of CpG Islands: An epigenetic analysis
|
Felek, Bilge
|
|
2015
|
24 |
S |
p. S11-
1 p.
|
artikel
|
| 29 |
Detection of mosaic mutations by next generation sequencing in genetic diseases with any mode of inheritance
|
Qin, Lan
|
|
2015
|
24 |
S |
p. S18-
1 p.
|
artikel
|
| 30 |
Development of an observer-reported outcome measure of home functionality in children with primary mitochondrial diseases
|
Stacpoole, Peter
|
|
2015
|
24 |
S |
p. S12-
1 p.
|
artikel
|
| 31 |
Diagnosis and management of mitochondrial disease in England
|
|
|
2015
|
24 |
S |
p. S8-
1 p.
|
artikel
|
| 32 |
Diamide increases calcium sensitivity of rat liver mitochondria in a medium containing TlNO3
|
Korotkov, Sergey M.
|
|
2015
|
24 |
S |
p. S17-
1 p.
|
artikel
|
| 33 |
Disease consequences of conflict between mitochondrial and nuclear genomes
|
Patel, Maulik R.
|
|
2015
|
24 |
S |
p. S20-S21
2 p.
|
artikel
|
| 34 |
Dysfunctional mitochondria? Let's make more… exercise in a bottle
|
Tarnopolsky, Mark A.
|
|
2015
|
24 |
S |
p. S4-
1 p.
|
artikel
|
| 35 |
Early imaging findings in Kearns Sayre Syndrome. A case presentation
|
Bonfante, Eliana
|
|
2015
|
24 |
S |
p. S13-
1 p.
|
artikel
|
| 36 |
Epigenetic Influences of cellular nutrients and the microbiome on mitochondrial function
|
Bultman, Scott J.
|
|
2015
|
24 |
S |
p. S7-
1 p.
|
artikel
|
| 37 |
EXERsomes induce systemic mitochondrial rejuvenation and ameliorate diet-induced obesity: Thinking inside the box for a change!
|
Safdar, Adeel
|
|
2015
|
24 |
S |
p. S28-
1 p.
|
artikel
|
| 38 |
Extracellular vesicles secreted by brain tumor stem cells are rich in mitochondrial function-associated proteins
|
de Vrij, Jeroen
|
|
2015
|
24 |
S |
p. S35-
1 p.
|
artikel
|
| 39 |
Facts and fiction: Making the N=1 trial work in mitochondrial disease
|
Krischer, Jeffrey
|
|
2015
|
24 |
S |
p. S9-
1 p.
|
artikel
|
| 40 |
Fluoroquinolone antibiotics and possible mitochondrial toxicity
|
Martin, Linda
|
|
2015
|
24 |
S |
p. S32-S33
2 p.
|
artikel
|
| 41 |
Functions of small regulatory RNAs in the mitochondria
|
Zhang, Xiaorong
|
|
2015
|
24 |
S |
p. S3-S4
2 p.
|
artikel
|
| 42 |
Genetically and metabolically corrected pluripotent stem cells from patients with mtDNA disease
|
Koski, Amy
|
|
2015
|
24 |
S |
p. S38-
1 p.
|
artikel
|
| 43 |
Going on a diagnostic journey
|
Parker, Mary Elizabeth
|
|
2015
|
24 |
S |
p. S38-S39
2 p.
|
artikel
|
| 44 |
Harnessing big data to advance mitochondrial medicine: Integrating clinical need with emerging technologic opportunities
|
Falk, Marni J.
|
|
2015
|
24 |
S |
p. S2-
1 p.
|
artikel
|
| 45 |
Human genomics: A quarter century of progress
|
Green, Eric D.
|
|
2015
|
24 |
S |
p. S2-
1 p.
|
artikel
|
| 46 |
Identification of new FBXL4 patients with mitochondrial disorders
|
Dai, Hongzheng
|
|
2015
|
24 |
S |
p. S31-
1 p.
|
artikel
|
| 47 |
Identifying common elements in late-diagnosed late-onset MADD patients by using graphs
|
Beyza C., Aslan
|
|
2015
|
24 |
S |
p. S19-
1 p.
|
artikel
|
| 48 |
Indole analogs have novel therapeutic effects on mitochondrial diseases
|
Matsuhashi, Tetsuro
|
|
2015
|
24 |
S |
p. S21-
1 p.
|
artikel
|
| 49 |
Indole derivatives protect cell death of skin fibroblasts from patient with Kearns–Sayre Syndrome (KSS) independent of oxidative phosphorylation or glycolytic pathway
|
Suzuki, Kosuke
|
|
2015
|
24 |
S |
p. S23-
1 p.
|
artikel
|
| 50 |
Integrative genomics of mitochondrial disease
|
Mootha, Vamsi K.
|
|
2015
|
24 |
S |
p. S3-
1 p.
|
artikel
|
| 51 |
In vivo longitudinal assessment of cellular processes using fluorescence reporters
|
Alavi, Marcel V.
|
|
2015
|
24 |
S |
p. S22-S23
2 p.
|
artikel
|
| 52 |
IPSC-derived human cardiomyocytes recapitulate features of mitochondrial hypertrophic cardiomyopathy due to ANT1-deficiency
|
Ortiz-Gonzalez, Xilma
|
|
2015
|
24 |
S |
p. S45-
1 p.
|
artikel
|
| 53 |
iPSC-derived neural progenitors carrying a MT-ATP6 mutation exhibit mitochondrial hyperpolarization and calcium-related defects
|
Bukowiecki, Raul
|
|
2015
|
24 |
S |
p. S28-S29
2 p.
|
artikel
|
| 54 |
Jump power reflects the degree of disability in neuromuscular disease
|
Newell, Christopher
|
|
2015
|
24 |
S |
p. S15-
1 p.
|
artikel
|
| 55 |
Known and novel ATP6 mutations: Delineation of the phenotypic spectrum and functional effects
|
Ganetzky, Rebecca
|
|
2015
|
24 |
S |
p. S19-
1 p.
|
artikel
|
| 56 |
LARS mutations in non-Irish travelers: An under-recognized multi-system disorder characterized by infantile hepatopathy during physiological stress
|
El-Gharbawy, Areeg
|
|
2015
|
24 |
S |
p. S40-S41
2 p.
|
artikel
|
| 57 |
LARS2 variations can cause lethal infantile multisystem failure
|
Riley, Lisa G.
|
|
2015
|
24 |
S |
p. S11-S12
2 p.
|
artikel
|
| 58 |
Localization of calpain 1 within mitochondria
|
Chen, Qun
|
|
2015
|
24 |
S |
p. S33-S34
2 p.
|
artikel
|
| 59 |
Long-term therapy with Bendavia (MTP-131), a novel mitochondria-targeting peptide, normalizes Complex-I Activity and reduces the NADH/NAD ratio in left ventricular myocardium of dogs with advanced heart failure
|
Sabbah, Hani N.
|
|
2015
|
24 |
S |
p. S21-S22
2 p.
|
artikel
|
| 60 |
Metabolic stress and ER proteostasis
|
van der Harg, Judith
|
|
2015
|
24 |
S |
p. S5-S6
2 p.
|
artikel
|
| 61 |
Meteorin-like and irisin — Effective therapies to treat diet-induced obesity and glucose intolerance?
|
Saleem, Ayesha
|
|
2015
|
24 |
S |
p. S41-S42
2 p.
|
artikel
|
| 62 |
Mice lacking Cox10 in T-lymphocytes recapitulate the immune phenotype of a cohort of patients with primary mitochondrial disease
|
Tarasenko, Tatyana N.
|
|
2015
|
24 |
S |
p. S18-
1 p.
|
artikel
|
| 63 |
MIPIGENETICS and MIPIGENOMICS: Integrating mitochondria-induced mayhem contributing to mystondria
|
Singh, Keshav K.
|
|
2015
|
24 |
S |
p. S6-
1 p.
|
artikel
|
| 64 |
MitoCarta2.0: An updated protein inventory of the mammalian mitochondrion
|
Calvo, Sarah E.
|
|
2015
|
24 |
S |
p. S23-
1 p.
|
artikel
|
| 65 |
Mitochondrial–cellular interactions can contribute to the patholphysiology of disease
|
Wallace, Douglas C.
|
|
2015
|
24 |
S |
p. S5-
1 p.
|
artikel
|
| 66 |
Mitochondrial center care model — United States
|
Koenig, Mary Kay
|
|
2015
|
24 |
S |
p. S7-
1 p.
|
artikel
|
| 67 |
Mitochondrial disease in a large cohort of statin-induced myopathy
|
Vladutiu, G.
|
|
2015
|
24 |
S |
p. S42-S43
2 p.
|
artikel
|
| 68 |
Mitochondrial disease patients' perception of dietary supplements' use
|
Karaa, Amel
|
|
2015
|
24 |
S |
p. S26-S27
2 p.
|
artikel
|
| 69 |
Mitochondrial DNA: The heart of the matter
|
McManus, Meagan
|
|
2015
|
24 |
S |
p. S41-
1 p.
|
artikel
|
| 70 |
Mitochondrial DNA topology is critical for mitochondrial genome maintenance and the regulation of gene expression
|
Byrnes, James
|
|
2015
|
24 |
S |
p. S28-
1 p.
|
artikel
|
| 71 |
Mitochondrial European Educational Training (MEET)
|
Carelli, Valerio
|
|
2015
|
24 |
S |
p. S37-
1 p.
|
artikel
|
| 72 |
Mitochondrial genome sequencing: A valuable addition to whole exome sequencing for the molecular diagnosis of mitochondrial disorders
|
Balog, Amanda
|
|
2015
|
24 |
S |
p. S20-
1 p.
|
artikel
|
| 73 |
Mitochondrial myopathy biomarker Fibroblast growth factor 21 is induced by muscle mtDNA instability and translation defects
|
Lehtonen, Jenni M.
|
|
2015
|
24 |
S |
p. S45-S46
2 p.
|
artikel
|
| 74 |
Mitochondrial respiratory chain disorders in the old order Amish population
|
Goldstein, Amy
|
|
2015
|
24 |
S |
p. S39-
1 p.
|
artikel
|
| 75 |
Mitochondrial studies in NUBPL associated mitochondrial Complex I deficiency in a family with global developmental delays, ataxia, and cerebellar and pons hypoplasia
|
Gonzalez, Kelly
|
|
2015
|
24 |
S |
p. S43-
1 p.
|
artikel
|
| 76 |
Mitochondrial tRNAHis 12201T>C mutation influence the deafness by altering the mitochondrial function
|
Peng, Yanyan
|
|
2015
|
24 |
S |
p. S29-S30
2 p.
|
artikel
|
| 77 |
Mitochondria play a central role in NLRP3 inflammasome activation
|
Subramanian, Naeha
|
|
2015
|
24 |
S |
p. S15-S16
2 p.
|
artikel
|
| 78 |
mitoTALENs as DNA editing tools for mitochondrial diseases
|
Bacman, Sandra R.
|
|
2015
|
24 |
S |
p. S22-
1 p.
|
artikel
|
| 79 |
Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets
|
Chen, Jing
|
|
2015
|
24 |
S |
p. S30-
1 p.
|
artikel
|
| 80 |
Modulation of GSK3 activity in cytochrome c oxidase encephalopathy mouse
|
Diaz, Francisca
|
|
2015
|
24 |
S |
p. S37-S38
2 p.
|
artikel
|
| 81 |
Molecular basis of seizures in a Drosophila model of mitochondrial disease
|
Fogle, Keri J.
|
|
2015
|
24 |
S |
p. S25-
1 p.
|
artikel
|
| 82 |
Molecular defects in mitochondrial protein translation machinery
|
Wang, Jing
|
|
2015
|
24 |
S |
p. S42-
1 p.
|
artikel
|
| 83 |
MSeqDR: Making genomics accessible to the mitochondrial disease community
|
Falk, Marni J.
|
|
2015
|
24 |
S |
p. S2-S3
2 p.
|
artikel
|
| 84 |
Mutations in NDUFB10 result in isolated complex I deficiency due to incomplete assembly of complex I holoenzyme
|
Friederich, Marisa W.
|
|
2015
|
24 |
S |
p. S26-
1 p.
|
artikel
|
| 85 |
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome
|
Simon, Mariella
|
|
2015
|
24 |
S |
p. S31-S32
2 p.
|
artikel
|
| 86 |
New mitochondrial disease genes and mechanisms
|
Zeviani, Massimo
|
|
2015
|
24 |
S |
p. S3-
1 p.
|
artikel
|
| 87 |
Novel C10orf2 mutations in a child with early onset mitochondrial depletion syndrome 7
|
Boucekkine, Houda
|
|
2015
|
24 |
S |
p. S32-
1 p.
|
artikel
|
| 88 |
Novel mutations in SLC25A3 encoding the mitochondrial phosphate carrier
|
Seifert, Erin L.
|
|
2015
|
24 |
S |
p. S30-S31
2 p.
|
artikel
|
| 89 |
Outcomes from the December 2014 NIH Workshop: Nutritional interventions in primary mitochondrial disorders: developing an evidence base
|
Camp, Kathryn
|
|
2015
|
24 |
S |
p. S6-S7
2 p.
|
artikel
|
| 90 |
Oxidatively degraded mitochondrial DNA is a newly identified DAMP family member in astrocytes, and potential trigger of Alzheimer's disease
|
Mathew, Alex
|
|
2015
|
24 |
S |
p. S10-
1 p.
|
artikel
|
| 91 |
Physiological manifestations of exercise intolerance in children and adults with mitochondrial myopathies
|
Bhatia, Rajeev
|
|
2015
|
24 |
S |
p. S17-
1 p.
|
artikel
|
| 92 |
Protein replacement therapy for mitochondrial disorders
|
Rapoport, M.
|
|
2015
|
24 |
S |
p. S35-
1 p.
|
artikel
|
| 93 |
Rapamycin as a potential treatment for succinate dehydrogenase mutants in Drosophila melanogaster
|
Alvarado, Katherine
|
|
2015
|
24 |
S |
p. S40-
1 p.
|
artikel
|
| 94 |
Rapamycin produces mtDNA dependent shifts of mitochondrial metabolism
|
Villa-Cuesta, Eugenia
|
|
2015
|
24 |
S |
p. S13-
1 p.
|
artikel
|
| 95 |
Reprogramming of Leigh's fibroblasts into induced pluripotent stem cells
|
Grace, Harrison E.
|
|
2015
|
24 |
S |
p. S43-
1 p.
|
artikel
|
| 96 |
Rescue of mitochondrial mutations via improved allotopic expression
|
Boominathan, Amutha
|
|
2015
|
24 |
S |
p. S27-
1 p.
|
artikel
|
| 97 |
Reversible 26S proteasome disassembly upon mitochondrial stress
|
Livnat-Levanon, Nurit
|
|
2015
|
24 |
S |
p. S6-
1 p.
|
artikel
|
| 98 |
Rotenone-elevated mitochondrial respiration with inflammatory myopathies indicates a secondary impairment to NADH: Ubiquinone oxidoreductase that attenuates succinate dehydrogenase activity
|
MacNeil, Lauren G.
|
|
2015
|
24 |
S |
p. S36-
1 p.
|
artikel
|
| 99 |
Sequencing analysis of CpG islands in Bt: SNCA & mitochondrial dysfunction
|
Ditta, Angelina M.
|
|
2015
|
24 |
S |
p. S11-
1 p.
|
artikel
|
| 100 |
Small molecule modulators for mitochondrial protein import
|
Koehler, Carla
|
|
2015
|
24 |
S |
p. S5-
1 p.
|
artikel
|
| 101 |
Smoking carcinogen NNK enhances thromboxane to decrease Bax in lung cancer
|
Chen, George G.
|
|
2015
|
24 |
S |
p. S14-S15
2 p.
|
artikel
|
| 102 |
Suboptimal mitochondrial function in depression
|
Emmerzaal, T.L.
|
|
2015
|
24 |
S |
p. S27-
1 p.
|
artikel
|
| 103 |
Surveying the signaling landscape by transcriptome profiling in mitochondrial disease
|
Zhang, Zhe
|
|
2015
|
24 |
S |
p. S3-
1 p.
|
artikel
|
| 104 |
The history of the mitochondrial medicine society and advancement of mitochondrial global networks for international collaboration
|
Goldstein, Amy
|
|
2015
|
24 |
S |
p. S39-S40
2 p.
|
artikel
|
| 105 |
The interplay of alleles and environmental influences on development of Leber's Hereditary Optic Neuropathy
|
Burket, Laura D.
|
|
2015
|
24 |
S |
p. S36-S37
2 p.
|
artikel
|
| 106 |
The prevalence of mitochondrial disease in the adult population
|
Yu-Wai-Man, Patrick
|
|
2015
|
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