PubRank

Bertrand Fontaine

Author PubWeight™ 78.99‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature 2011 13.23
2 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet 2013 4.62
3 Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell 2010 2.42
4 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet 2012 2.34
5 Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet 2002 2.17
6 Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 2007 2.17
7 Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 2004 1.73
8 Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 2004 1.72
9 Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. J Inherit Metab Dis 2012 1.71
10 ImmunoChip study implicates antigen presentation to T cells in narcolepsy. PLoS Genet 2013 1.55
11 Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet 2004 1.45
12 Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations. Neurology 2013 1.45
13 Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain 2012 1.34
14 Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. PLoS Genet 2011 1.27
15 REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat 2011 1.26
16 Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006 1.25
17 A benign form of neuromyelitis optica: does it exist? Arch Neurol 2011 1.21
18 CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain 2009 1.18
19 Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. Am J Med Genet A 2008 1.17
20 Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis. Nat Genet 2010 1.16
21 Tyrosine kinase 2 variant influences T lymphocyte polarization and multiple sclerosis susceptibility. Brain 2011 1.11
22 Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis. Biochem Biophys Res Commun 2006 0.97
23 The purinergic receptor P2X7 triggers alpha-secretase-dependent processing of the amyloid precursor protein. J Biol Chem 2010 0.96
24 Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk. J Med Genet 2013 0.96
25 Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression. Brain 2013 0.96
26 Fitting neuron models to spike trains. Front Neurosci 2011 0.95
27 Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans. J Physiol 2003 0.95
28 MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis. Brain 2013 0.94
29 A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas. Arch Ophthalmol 2002 0.93
30 The multiple faces of the ATP1A3-related dystonic movement disorder. Mov Disord 2013 0.91
31 Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia. J Physiol 2009 0.91
32 Subtle cognitive impairment but no dementia in patients with spastin mutations. Arch Neurol 2003 0.91
33 A role for VAV1 in experimental autoimmune encephalomyelitis and multiple sclerosis. Sci Transl Med 2009 0.90
34 Homozygosity for dominant mutations increases severity of muscle channelopathies. Muscle Nerve 2010 0.89
35 Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders. Muscle Nerve 2007 0.89
36 Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. Hum Mol Genet 2008 0.89
37 Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. Hum Mutat 2006 0.88
38 Effect of instantaneous frequency glides on interaural time difference processing by auditory coincidence detectors. Proc Natl Acad Sci U S A 2011 0.88
39 A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation. J Physiol 2005 0.87
40 Long-standing prion dementia manifesting as posterior cortical atrophy. Alzheimer Dis Assoc Disord 2012 0.87
41 Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects. J Med Genet 2012 0.86
42 Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder. J Physiol 2011 0.86
43 Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans. J Neuroimmunol 2006 0.85
44 In vivo and in vitro functional characterization of Andersen's syndrome mutations. J Physiol 2005 0.85
45 A new phenotype linked to SPG27 and refinement of the critical region on chromosome. J Neurol 2006 0.85
46 Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study. Neurogenetics 2003 0.85
47 A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking. Am J Pathol 2012 0.82
48 A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13. Neurology 2012 0.82
49 Inducible expression of FGF2 by a rat oligodendrocyte precursor cell line promotes CNS myelination in vitro. Exp Neurol 2003 0.81
50 Glucocorticoids may trigger attacks in several types of periodic paralysis. Neuromuscul Disord 2009 0.81
51 Unexpected aggravation of Parkinson's disease by a mesencephalic multiple sclerosis lesion. J Neurol 2004 0.80
52 Genetic interaction of CTLA-4 with HLA-DR15 in multiple sclerosis patients. Ann Neurol 2003 0.80
53 Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome. Neuromuscul Disord 2013 0.80
54 Genetic analysis of multiple sclerosis in Europeans: French data. J Neuroimmunol 2003 0.79
55 Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin. Muscle Nerve 2009 0.79
56 Skeletal muscle sodium channelopathies. Curr Opin Neurol 2015 0.79
57 Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis. Eur J Hum Genet 2011 0.78
58 IFIH1-GCA-KCNH7 locus is not associated with genetic susceptibility to multiple sclerosis in French patients. Eur J Hum Genet 2009 0.76
59 Tuning bat LSO neurons to interaural intensity differences through spike-timing dependent plasticity. Biol Cybern 2007 0.76
60 A calibration-free electrode compensation method. J Neurophysiol 2012 0.75
61 Evidence for a complex interaction between HLA-DRB1 and environmental factors in MS. Neurology 2008 0.75
62 Neuromuscular disorders: gene location. Neuromuscul Disord 2002 0.75
63 102nd ENMC International Workshop on Schwartz-Jampel syndrome, 14-16 December, 2001, Naarden, The Netherlands. Neuromuscul Disord 2003 0.75
64 Introducing the online version of the gene table for neuromuscular disease (nuclear genes only). Neuromuscul Disord 2005 0.75
65 Neuromuscular disorders: gene location. Neuromuscul Disord 2004 0.75
66 Neuromuscular disorders: gene location. Neuromuscul Disord 2002 0.75
67 Neuromuscular disorders: gene location. Neuromuscul Disord 2002 0.75
68 Neuromuscular disorders: gene location. Neuromuscul Disord 2002 0.75