| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
Association between mitochondrial dysfunction and severity and outcome of septic shock.
|
Lancet
|
2002
|
4.42
|
|
2
|
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.
|
Lancet Neurol
|
2010
|
2.60
|
|
3
|
PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neurons.
|
PLoS One
|
2008
|
2.33
|
|
4
|
Statins and myopathy.
|
Lancet
|
2002
|
2.21
|
|
5
|
Antioxidants, reactive oxygen and nitrogen species, gene induction and mitochondrial function.
|
Mol Aspects Med
|
2002
|
1.43
|
|
6
|
GTP cyclohydrolase I gene transfer augments intracellular tetrahydrobiopterin in human endothelial cells: effects on nitric oxide synthase activity, protein levels and dimerisation.
|
Cardiovasc Res
|
2002
|
1.38
|
|
7
|
Pulmonary hypertension in a GTP-cyclohydrolase 1-deficient mouse.
|
Circulation
|
2005
|
1.38
|
|
8
|
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes.
|
Lancet Neurol
|
2011
|
1.30
|
|
9
|
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients.
|
Mol Genet Metab
|
2008
|
1.17
|
|
10
|
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.
|
Neurology
|
2012
|
1.11
|
|
11
|
(6R)-5,6,7,8-tetrahydro-L-biopterin and its stereoisomer prevent ischemia reperfusion injury in human forearm.
|
Arterioscler Thromb Vasc Biol
|
2007
|
0.99
|
|
12
|
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.
|
J Inherit Metab Dis
|
2015
|
0.96
|
|
13
|
Depletion of reduced glutathione precedes inactivation of mitochondrial enzymes following limbic status epilepticus in the rat hippocampus.
|
Neurochem Int
|
2005
|
0.94
|
|
14
|
L-Dopa-responsive Parkinson's syndrome in association with phenylketonuria: In vivo dopamine transporter and D2 receptor findings.
|
Mov Disord
|
2004
|
0.94
|
|
15
|
Myelin-induced microglial neurotoxicity can be controlled by microglial metabotropic glutamate receptors.
|
J Neurochem
|
2008
|
0.90
|
|
16
|
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
|
Am J Hum Genet
|
2011
|
0.89
|
|
17
|
Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency.
|
Circ Cardiovasc Genet
|
2010
|
0.88
|
|
18
|
The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients.
|
J Proteome Res
|
2013
|
0.87
|
|
19
|
Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.
|
J Inherit Metab Dis
|
2012
|
0.86
|
|
20
|
Rapid neonatal weight gain in rats results in a renal ubiquinone (CoQ) deficiency associated with premature death.
|
Mech Ageing Dev
|
2007
|
0.83
|
|
21
|
Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.
|
J Inherit Metab Dis
|
2011
|
0.82
|
|
22
|
Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: case report and literature review.
|
Mov Disord
|
2010
|
0.80
|
|
23
|
Glutamate induces release of glutathione from cultured rat astrocytes--a possible neuroprotective mechanism?
|
J Neurochem
|
2008
|
0.78
|
|
24
|
Postmortem tandem mass spectrometry profiling for detection of infection in unexpected infant death.
|
Forensic Sci Med Pathol
|
2012
|
0.77
|
|
25
|
Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia.
|
Pediatr Res
|
2002
|
0.76
|
|
26
|
Increased nitric oxide production and protection from malaria.
|
Lancet
|
2003
|
0.75
|