Ferdinanda Annesi

Author PubWeight™ 17.84‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Mov Disord 2008 1.48
2 Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism. Parkinsonism Relat Disord 2008 1.45
3 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
4 DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. Ann Neurol 2005 1.29
5 Sex differences in clinical and genetic determinants of levodopa peak-dose dyskinesias in Parkinson disease: an exploratory study. Arch Neurol 2005 1.06
6 Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern. Mov Disord 2006 0.92
7 Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. Epilepsia 2003 0.89
8 Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study. Mov Disord 2007 0.88
9 Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation. Epilepsia 2007 0.88
10 Myocardial 123metaiodobenzylguanidine uptake in genetic Parkinson's disease. Mov Disord 2008 0.86
11 Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism. Parkinsonism Relat Disord 2011 0.83
12 Association study between four polymorphisms in the HFE, TF and TFR genes and Parkinson's disease in southern Italy. Neurol Sci 2011 0.82
13 Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsy Res 2007 0.81
14 A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit. Epilepsia 2004 0.81
15 Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the parkin gene. Mov Disord 2004 0.77
16 Lack of association between G-protein coupled receptor kinase 5 gene and Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet 2010 0.76
17 FRAXE intermediate alleles are associated with Parkinson's disease. Neurosci Lett 2004 0.76
18 No evidence of association between the alpha-2 macroglobulin gene and Parkinson's disease in a case-control sample. Neurosci Lett 2002 0.75
19 Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease. Parkinsonism Relat Disord 2008 0.75
20 [Generalized epilepsy with febrile seizures plus: clinical and genetic analysis of three Serbian families]. Srp Arh Celok Lek 2005 0.75