PubRank

Merle Ruberg

Author PubWeight™ 58.42‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death. Hum Mol Genet 2003 3.51
2 Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 2007 2.17
3 The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration. Hum Mol Genet 2003 1.83
4 Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 2009 1.81
5 Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 2004 1.72
6 Stimulation of subterritories of the subthalamic nucleus reveals its role in the integration of the emotional and motor aspects of behavior. Proc Natl Acad Sci U S A 2007 1.66
7 How much phenotypic variation can be attributed to parkin genotype? Ann Neurol 2003 1.44
8 Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet 2006 1.37
9 Dysfunction of mitochondrial complex I and the proteasome: interactions between two biochemical deficits in a cellular model of Parkinson's disease. J Neurochem 2003 1.32
10 The mitochondrial complex I inhibitor rotenone triggers a cerebral tauopathy. J Neurochem 2005 1.27
11 Annonacin, a natural mitochondrial complex I inhibitor, causes tau pathology in cultured neurons. J Neurosci 2007 1.18
12 C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing. J Alzheimers Dis 2013 1.16
13 Chronic systemic complex I inhibition induces a hypokinetic multisystem degeneration in rats. J Neurochem 2003 1.15
14 PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins. J Cell Biol 2006 1.12
15 Rescue of mesencephalic dopaminergic neurons in culture by low-level stimulation of voltage-gated sodium channels. J Neurosci 2004 1.10
16 Annonacin, a lipophilic inhibitor of mitochondrial complex I, induces nigral and striatal neurodegeneration in rats: possible relevance for atypical parkinsonism in Guadeloupe. J Neurochem 2004 1.08
17 A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes. J Neurosci 2007 1.06
18 The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates. Neurobiol Dis 2003 1.05
19 Neurotoxic calcium transfer from endoplasmic reticulum to mitochondria is regulated by cyclin-dependent kinase 5-dependent phosphorylation of tau. J Neurosci 2005 1.03
20 Recent advances in the genetics of spastic paraplegias. Curr Neurol Neurosci Rep 2008 1.02
21 Metabolic activity of cerebellar and basal ganglia-thalamic neurons is reduced in parkinsonism. Brain 2007 1.01
22 Natural lipophilic inhibitors of mitochondrial complex I are candidate toxins for sporadic neurodegenerative tau pathologies. Exp Neurol 2009 0.98
23 The alpha2-adrenoceptor antagonist dexefaroxan enhances hippocampal neurogenesis by increasing the survival and differentiation of new granule cells. Neuropsychopharmacology 2006 0.96
24 Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol 2004 0.96
25 Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum Mutat 2006 0.93
26 Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum. J Neurochem 2009 0.91
27 Subtle cognitive impairment but no dementia in patients with spastin mutations. Arch Neurol 2003 0.91
28 Parkinson's disease: from causes to mechanisms. C R Biol 2005 0.89
29 A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22. Neurogenetics 2008 0.88
30 Pleiotrophin mediates the neurotrophic effect of cyclic AMP on dopaminergic neurons: analysis of suppression-subtracted cDNA libraries and confirmation in vitro. Exp Neurol 2005 0.87
31 Monogenic idiopathic epilepsies. Lancet Neurol 2004 0.87
32 Toxicity of Annonaceae for dopaminergic neurons: potential role in atypical parkinsonism in Guadeloupe. Mov Disord 2002 0.86
33 Ceramide increases mitochondrial free calcium levels via caspase 8 and Bid: role in initiation of cell death. J Neurochem 2003 0.86
34 Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice. Brain 2013 0.86
35 Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity. Mol Cell Neurosci 2005 0.85
36 Identification of genes involved in ceramide-dependent neuronal apoptosis using cDNA arrays. Genome Biol 2002 0.85
37 Activation of the mitogen-activated protein kinase (ERK(1/2)) signaling pathway by cyclic AMP potentiates the neuroprotective effect of the neurotransmitter noradrenaline on dopaminergic neurons. Mol Pharmacol 2002 0.85
38 Differential gene expression induced by chronic levodopa treatment in the striatum of rats with lesions of the nigrostriatal system. J Neurochem 2004 0.84
39 In vivo evidence for cerebral depletion in high-energy phosphates in progressive supranuclear palsy. J Cereb Blood Flow Metab 2009 0.84
40 Quantification of acetogenins in Annona muricata linked to atypical parkinsonism in guadeloupe. Mov Disord 2005 0.83
41 The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice. Acta Neuropathol 2014 0.83
42 Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells. Neurobiol Dis 2007 0.82
43 Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes. Neurogenetics 2007 0.82
44 A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP. Neurogenetics 2007 0.82
45 Prevention of dopaminergic neuronal death by cyclic AMP in mixed neuronal/glial mesencephalic cultures requires the repression of presumptive astrocytes. Mol Pharmacol 2003 0.82
46 Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol 2005 0.81
47 REM sleep behavior disorder in patients with guadeloupean parkinsonism, a tauopathy. Sleep 2007 0.81
48 Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. Brain 2007 0.80
49 Dopaminergic neurons reduced to silence by oxidative stress: an early step in the death cascade in Parkinson's disease? Sci STKE 2006 0.80
50 Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment. Brain 2008 0.79
51 A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene. Neurogenetics 2006 0.78
52 Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease. Neurodegener Dis 2007 0.78
53 Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements. Am J Med Genet A 2005 0.77
54 Experimental evidence for a toxic etiology of tropical parkinsonism. Mov Disord 2005 0.75
55 Atypical parkinsonism in the Caribbean island of Guadeloupe: etiological role of the mitochondrial complex I inhibitor annonacin. Mov Disord 2008 0.75
56 Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies. Am J Med Genet A 2003 0.75
57 The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical parkinsonism. Mov Disord 2008 0.75
58 The impact of familial structure on Parkinson's disease in Istanbul Medical School, Turkey. Int J Neurosci 2011 0.75
59 Activation of mitogen-activated protein kinase pathways during the death of PC12 cells is dependent on the state of differentiation. Brain Res Mol Brain Res 2003 0.75