Published in Epilepsia on June 12, 2007
Fine mapping of an epilepsy modifier gene on mouse Chromosome 19. Mamm Genome (2009) 1.02
Sodium channel blockers for the treatment of neuropathic pain. Neurotherapeutics (2009) 0.91
Epilepsy with auditory features: A heterogeneous clinico-molecular disease. Neurol Genet (2015) 0.89
A targeted resequencing gene panel for focal epilepsy. Neurology (2016) 0.77
Channeling into the epilepsies. Epilepsy Curr (2008) 0.75
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet (2004) 7.45
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci (2006) 5.02
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet (2011) 2.49
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol (2011) 2.44
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol (2013) 2.32
Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology (2012) 2.18
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. Ann Neurol (2002) 2.07
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet (2012) 2.07
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet (2003) 1.99
Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study. Lancet Neurol (2006) 1.92
Tramadol and new-onset seizures. Med J Aust (2005) 1.77
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain (2012) 1.67
Correlation between fatigue and brain atrophy and lesion load in multiple sclerosis patients independent of disability. J Neurol Sci (2007) 1.61
Impaired generation of mature neurons by neural stem cells from hypomorphic Sox2 mutants. Development (2008) 1.58
Accuracy of magnetic resonance parkinsonism index for differentiation of progressive supranuclear palsy from probable or possible Parkinson disease. Mov Disord (2011) 1.56
UCHL1 is a Parkinson's disease susceptibility gene. Ann Neurol (2004) 1.54
Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families. J Neurol (2007) 1.54
Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology (2014) 1.52
herg1 gene and HERG1 protein are overexpressed in colorectal cancers and regulate cell invasion of tumor cells. Cancer Res (2004) 1.49
Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Mov Disord (2008) 1.48
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet (2012) 1.48
Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism. Parkinsonism Relat Disord (2008) 1.45
Human ether-a-go-go-related gene 1 channels are physically linked to beta1 integrins and modulate adhesion-dependent signaling. Mol Biol Cell (2005) 1.45
Blocking out the real diagnosis. Lancet (2011) 1.43
Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant. J Neurosci (2007) 1.43
Monoamine oxidase-a genetic variations influence brain activity associated with inhibitory control: new insight into the neural correlates of impulsivity. Biol Psychiatry (2005) 1.41
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. Ann Neurol (2011) 1.40
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol (2004) 1.40
Single nucleotide polymorphism in the MMP-9 gene is associated with susceptibility to develop multiple sclerosis in an Italian case-control study. J Neuroimmunol (2010) 1.39
Paroxysmal non-epileptic motor events in childhood: a clinical and video-EEG-polymyographic study. Dev Med Child Neurol (2012) 1.39
Cell cycle-dependent expression of HERG1 and HERG1B isoforms in tumor cells. J Biol Chem (2002) 1.38
Neuropsin cleaves EphB2 in the amygdala to control anxiety. Nature (2011) 1.34
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. Proc Natl Acad Sci U S A (2005) 1.32
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation. Neurobiol Dis (2009) 1.32
DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. Ann Neurol (2005) 1.29
Block of glutamate-glutamine cycle between astrocytes and neurons inhibits epileptiform activity in hippocampus. J Neurophysiol (2002) 1.28
Increased prefrontal volume in PD with levodopa-induced dyskinesias: a voxel-based morphometry study. Mov Disord (2011) 1.27
Lipocalin-2 controls neuronal excitability and anxiety by regulating dendritic spine formation and maturation. Proc Natl Acad Sci U S A (2011) 1.23
Expression pattern of the ether-a-go-go-related (ERG) family proteins in the adult mouse central nervous system: evidence for coassembly of different subunits. J Comp Neurol (2005) 1.23
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet (2013) 1.23
Prefrontal alterations in Parkinson's disease with levodopa-induced dyskinesia during fMRI motor task. Mov Disord (2011) 1.23
Determinants of health-related quality of life in pharmacoresistant epilepsy: results from a large multicenter study of consecutively enrolled patients using validated quantitative assessments. Epilepsia (2011) 1.20
Exact distinction of excitatory and inhibitory neurons in neural networks: a study with GFP-GAD67 neurons optically and electrophysiologically recognized on multielectrode arrays. Front Neural Circuits (2012) 1.18
Activity-dependent phosphorylation of Ser187 is required for SNAP-25-negative modulation of neuronal voltage-gated calcium channels. Proc Natl Acad Sci U S A (2007) 1.17
Quetiapine and clozapine in parkinsonian patients with dopaminergic psychosis. Clin Neuropharmacol (2004) 1.14
Functional roles of an ERG current isolated in cerebellar Purkinje neurons. J Neurophysiol (2003) 1.14
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging (2012) 1.13
Usefulness of a morning routine EEG recording in patients with juvenile myoclonic epilepsy. Epilepsy Res (2007) 1.12
Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy. J Neurosci (2011) 1.12
Patterns of brain atrophy in Parkinson's disease, progressive supranuclear palsy and multiple system atrophy. Parkinsonism Relat Disord (2011) 1.11
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. Hum Mutat (2013) 1.10
Gender-related effect of clinical and genetic variables on the cognitive impairment in multiple sclerosis. J Neurol (2004) 1.10
Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures. J Neurosci (2006) 1.09
Binding specificity of sea anemone toxins to Nav 1.1-1.6 sodium channels: unexpected contributions from differences in the IV/S3-S4 outer loop. J Biol Chem (2004) 1.08
Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges. Epilepsia (2006) 1.08
Apparent diffusion coefficient of the superior cerebellar peduncle differentiates progressive supranuclear palsy from Parkinson's disease. Mov Disord (2008) 1.08
Which is the goal of cognitive rehabilitation in multiple sclerosis: the improvement of cognitive performance or the perception of cognitive deficits? Mult Scler (2013) 1.07
Frontal cognitive dysfunction in juvenile myoclonic epilepsy. Epilepsia (2007) 1.07
The functional properties of the human ether-à-go-go-like (HELK2) K+ channel. Eur J Neurosci (2002) 1.07
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. Mov Disord (2008) 1.06
Validation of the Italian version of the Movement Disorder Society--Unified Parkinson's Disease Rating Scale. Neurol Sci (2012) 1.06