PubRank

Gabriella Restagno

Author PubWeight™ 84.01‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011 18.73
2 Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010 7.87
3 Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012 5.18
4 Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 2007 3.93
5 Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging 2011 3.27
6 Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report. Clin Chem Lab Med 2014 2.04
7 A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 2009 1.93
8 Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain 2012 1.67
9 Genetic counselling in ALS: facts, uncertainties and clinical suggestions. J Neurol Neurosurg Psychiatry 2013 1.65
10 Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol Aging 2009 1.62
11 Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch Neurol 2011 1.48
12 FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2010 1.42
13 Extensive genetics of ALS: a population-based study in Italy. Neurology 2012 1.39
14 Mutations and polymorphisms of the FSH receptor (FSHR) gene: clinical implications in female fecundity and molecular biology of FSHR protein and gene. Obstet Gynecol Surv 2008 1.16
15 Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients. Proc Natl Acad Sci U S A 2010 1.13
16 C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging 2012 1.13
17 A de novo missense mutation of the FUS gene in a "true" sporadic ALS case. Neurobiol Aging 2010 1.12
18 Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease. J Biol Chem 2004 1.09
19 Fetal DNA detection in maternal plasma throughout gestation. Hum Genet 2005 1.09
20 Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2012 1.08
21 Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations. Arch Neurol 2010 1.06
22 ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations. J Neurol Neurosurg Psychiatry 2012 1.04
23 No evidence of fetal DNA persistence in maternal plasma after pregnancy. Hum Genet 2003 1.02
24 Ovarian hyper-stimulation syndrome after spontaneous conception. Gynecol Endocrinol 2009 1.02
25 Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia. Haematologica 2008 1.01
26 A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD. Neurobiol Aging 2011 0.94
27 The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. J Pediatr 2009 0.94
28 Mutational analysis of the VCP gene in Parkinson's disease. Neurobiol Aging 2011 0.93
29 Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome. BMC Nephrol 2012 0.92
30 The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients. Eur J Nucl Med Mol Imaging 2014 0.90
31 UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study. Neurobiol Aging 2012 0.88
32 FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women. J Assist Reprod Genet 2011 0.86
33 Homozygosity analysis in amyotrophic lateral sclerosis. Eur J Hum Genet 2013 0.84
34 Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype? J Neurol 2012 0.84
35 Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis. Clin Chem 2007 0.82
36 Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes. Amyloid 2013 0.81
37 No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. Hum Mol Genet 2013 0.80
38 Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss. Hum Mutat 2002 0.80
39 The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms. Neurogenetics 2013 0.80
40 Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. Clin Chem 2002 0.79
41 Different approaches for noninvasive prenatal diagnosis of genetic diseases based on PNA-mediated enriched PCR. Ann N Y Acad Sci 2006 0.79
42 In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis. Mol Genet Metab 2008 0.79
43 Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study. Amyotroph Lateral Scler 2012 0.78
44 Fetal DNA in maternal plasma: a noninvasive tool for prenatal diagnosis of beta-thalassemia. Expert Opin Biol Ther 2012 0.77
45 Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene. Ann Neurol 2004 0.77
46 Low renin-angiotensin system activity gene polymorphism and dysplasia associated with posterior urethral valves. J Urol 2005 0.77
47 NADPH oxidase (NOX2) activity is a modifier of survival in ALS. J Neurol 2014 0.76
48 Lab-on-a-chip: emerging analytical platforms for immune-mediated diseases. Autoimmun Rev 2012 0.76
49 Further considerations concerning non-invasive prenatal diagnosis of craniosynostosis based on the identification of an 18 bp deletion in the TWIST1 gene by COLD-PCR. Clin Chem Lab Med 2014 0.75
50 Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to GGGGCC expansion of the c9orf72 gene. J Neurol 2012 0.75
51 Amyotrophic lateral sclerosis onset after prolonged treatment with a VEGF receptors inhibitor. Amyotroph Lateral Scler Frontotemporal Degener 2014 0.75
52 Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications. Cytogenet Genome Res 2015 0.75
53 Fetal DNA in maternal plasma in twin pregnancies. Clin Chem 2003 0.75
54 Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene. Clin Chem Lab Med 2009 0.75
55 A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course. Amyotroph Lateral Scler Frontotemporal Degener 2014 0.75
56 An ALS case with a novel D90N-SOD1 heterozygous missense mutation. Amyotroph Lateral Scler 2012 0.75