| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts.
|
Clin Chem
|
2007
|
2.82
|
|
2
|
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.
|
Am J Hum Genet
|
2006
|
2.66
|
|
3
|
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
|
Hum Mutat
|
2013
|
2.07
|
|
4
|
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
|
Ann Neurol
|
2007
|
1.53
|
|
5
|
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.
|
Clin Chem
|
2006
|
1.29
|
|
6
|
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.
|
Biochem J
|
2006
|
1.23
|
|
7
|
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.
|
J Inherit Metab Dis
|
2012
|
1.20
|
|
8
|
Mitochondrial ATP synthase: architecture, function and pathology.
|
J Inherit Metab Dis
|
2011
|
1.19
|
|
9
|
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
|
Brain
|
2008
|
1.13
|
|
10
|
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
|
Eur J Hum Genet
|
2010
|
1.07
|
|
11
|
Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.
|
Mol Genet Metab
|
2006
|
1.05
|
|
12
|
C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation.
|
Nucleic Acids Res
|
2012
|
1.01
|
|
13
|
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
|
J Neurol Sci
|
2013
|
1.00
|
|
14
|
Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.
|
Arch Neurol
|
2012
|
0.98
|
|
15
|
Characterization of anti-inflammatory compounds using transcriptomics, proteomics, and metabolomics in combination with multivariate data analysis.
|
Int Immunopharmacol
|
2004
|
0.98
|
|
16
|
A combination of proteomics, principal component analysis and transcriptomics is a powerful tool for the identification of biomarkers for macrophage maturation in the U937 cell line.
|
Proteomics
|
2004
|
0.97
|
|
17
|
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.
|
Am J Hum Genet
|
2011
|
0.95
|
|
18
|
High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.
|
Clin Chem
|
2009
|
0.91
|
|
19
|
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
|
Brain
|
2013
|
0.91
|
|
20
|
Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma.
|
Clin Cancer Res
|
2013
|
0.90
|
|
21
|
Trolox-sensitive reactive oxygen species regulate mitochondrial morphology, oxidative phosphorylation and cytosolic calcium handling in healthy cells.
|
Antioxid Redox Signal
|
2012
|
0.90
|
|
22
|
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.
|
Hum Mol Genet
|
2009
|
0.89
|
|
23
|
Mitochondrial energy production correlates with the age-related BMI.
|
Pediatr Res
|
2009
|
0.88
|
|
24
|
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
|
Eur J Hum Genet
|
2010
|
0.87
|
|
25
|
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
|
Ann Neurol
|
2008
|
0.86
|
|
26
|
Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.
|
Mitochondrion
|
2011
|
0.85
|
|
27
|
Mitochondrial dysfunction in muscle tissue of complex regional pain syndrome type I patients.
|
Eur J Pain
|
2011
|
0.84
|
|
28
|
Beta-adrenergic receptor agonists induce the release of granulocyte chemotactic protein-2, oncostatin M, and vascular endothelial growth factor from macrophages.
|
Int Immunopharmacol
|
2005
|
0.81
|
|
29
|
In search of secreted protein biomarkers for the anti-inflammatory effect of beta2-adrenergic receptor agonists: application of DIGE technology in combination with multivariate and univariate data analysis tools.
|
J Proteome Res
|
2005
|
0.81
|
|
30
|
Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle.
|
J Neurol
|
2007
|
0.81
|
|
31
|
A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.
|
Biochim Biophys Acta
|
2011
|
0.80
|
|
32
|
The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.
|
Hum Mol Genet
|
2013
|
0.79
|
|
33
|
Unheated Cannabis sativa extracts and its major compound THC-acid have potential immuno-modulating properties not mediated by CB1 and CB2 receptor coupled pathways.
|
Int Immunopharmacol
|
2005
|
0.79
|
|
34
|
Inheritance of the m.3243A>G mutation.
|
JIMD Rep
|
2012
|
0.78
|
|
35
|
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
|
Hum Mutat
|
2014
|
0.76
|
|
36
|
Androgenic activity in surface water samples detected using the AR-LUX assay: indications for mixture effects.
|
Environ Toxicol Pharmacol
|
2005
|
0.76
|
|
37
|
Females with PDHA1 gene mutations: a diagnostic challenge.
|
Mitochondrion
|
2006
|
0.76
|
|
38
|
Mitochondrial function in diaphragm of emphysematous hamsters after treatment with nandrolone.
|
Int J Chron Obstruct Pulmon Dis
|
2006
|
0.75
|
|
39
|
Detection of hormonal anabolic compounds in calf urine and unverified growth-promoting preparations: application of the AR-LUX bioassay for screening and determination of androgenic activity.
|
Analyst
|
2003
|
0.75
|