PubRank

F Tassone

Author PubWeight™ 71.08‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001 6.55
2 Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002 4.05
3 Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 2005 3.99
4 Protein composition of the intranuclear inclusions of FXTAS. Brain 2005 2.95
5 Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 2004 2.33
6 Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report. Am J Med Genet 1999 2.26
7 FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology 2007 1.80
8 Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology 2007 1.77
9 Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet 2004 1.77
10 Aging in individuals with the FMR1 mutation. Am J Ment Retard 2004 1.68
11 Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology 2006 1.55
12 Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome. Genes Brain Behav 2012 1.41
13 Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond. Clin Genet 2005 1.37
14 Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers. Am J Med Genet B Neuropsychiatr Genet 2010 1.14
15 Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. Clin Genet 2011 1.08
16 Nocturnal hypoxemia, night-day arterial pressure changes and left ventricular geometry in dialysis patients. Kidney Int 1998 1.07
17 Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Clin Genet 2010 1.04
18 Variability in FMRP and early development in males with fragile X syndrome. Am J Ment Retard 2001 1.03
19 Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome. Am J Med Genet 1999 1.00
20 Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? J Med Genet 2005 0.98
21 Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. Clin Genet 2012 0.97
22 Effects of short-term administration of low-dose rhGH on IGF-I levels in obesity and Cushing's syndrome: indirect evaluation of sensitivity to GH. Eur J Endocrinol 2001 0.94
23 FMR1 premutation in females diagnosed with multiple sclerosis. J Neurol Neurosurg Psychiatry 2009 0.93
24 Prevalence and risk of migraine headaches in adult fragile X premutation carriers. Clin Genet 2013 0.93
25 Adrenal responsiveness to high, low and very low ACTH 1-24 doses in obesity. Clin Endocrinol (Oxf) 2000 0.92
26 Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion. Clin Genet 2014 0.90
27 FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile. Clin Genet 2013 0.89
28 Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats. J Clin Neurosci 2006 0.89
29 Obese patients with obstructive sleep apnoea syndrome show a peculiar alteration of the corticotroph but not of the thyrotroph and lactotroph function. Clin Endocrinol (Oxf) 2004 0.88
30 A search for genes from the dark band regions of human chromosome 21. Genomics 1995 0.87
31 Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and molecular studies of nondisjunction. Am J Med Genet Suppl 1990 0.87
32 Concomitant impairment of growth hormone secretion and peripheral sensitivity in obese patients with obstructive sleep apnea syndrome. J Clin Endocrinol Metab 2002 0.87
33 Investigation of candidate genes for glycolytic potential of porcine skeletal muscle: Association with meat quality and production traits in Italian Large White pigs. Meat Sci 2008 0.86
34 Analysis of pufferfish homologues of the AT-rich human APP gene. Gene 1998 0.86
35 Blood glucose pre-prandial baseline decreases from morning to evening in type 2 diabetes: role of fasting blood glucose and influence on post-prandial excursions. Eur J Clin Invest 2002 0.85
36 Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3. Genomics 1998 0.84
37 Left ventricular hypertrophy and nocturnal hypoxemia in hemodialysis patients. J Hypertens 2001 0.84
38 Map location, genomic organization and expression patterns of the human RED1 RNA editase. Somat Cell Mol Genet 1997 0.83
39 Effects of 36 hour fasting on GH/IGF-I axis and metabolic parameters in patients with simple obesity. Comparison with normal subjects and hypopituitary patients with severe GH deficiency. Int J Obes Relat Metab Disord 2001 0.83
40 In obesity, glucose load loses its early inhibitory, but maintains its late stimulatory, effect on somatotrope secretion. J Clin Endocrinol Metab 1997 0.81
41 FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients. Parkinsonism Relat Disord 2010 0.81
42 A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes. J Med Genet 2007 0.80
43 Smoking, blood pressure and serum albumin are major determinants of carotid atherosclerosis in dialysis patients. CREED Investigators. Cardiovascular Risk Extended Evaluation in Dialysis patients. J Nephrol 1999 0.80
44 Tacrolimus 0.1% ointment in nail psoriasis: a randomized controlled open-label study. J Eur Acad Dermatol Venereol 2012 0.80
45 The effect of dietary supplementation of vitamins C and E on the α-tocopherol content of muscles, liver and kidney, on the stability of lipids, and on certain meat quality parameters of the longissimus dorsi of rabbits. Meat Sci 2004 0.79
46 Compound heterozygous female with fragile X syndrome. Am J Med Genet 1999 0.78
47 Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomies. Am J Med Genet Suppl 1990 0.78
48 Neuroendocrine and metabolic determinants of the adaptation of GH/IGF-I axis to obesity. Ann Endocrinol (Paris) 2002 0.78
49 IGF-1 levels in different conditions of low somatotrope secretion in adulthood: obesity in comparison with GH deficiency. Minerva Endocrinol 1999 0.78
50 Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population. BMJ Open 2013 0.78
51 Effects of extra virgin olive oil supplementation at two different low doses on lipid profile in mild hypercholesterolemic subjects: a randomised clinical trial. J Endocrinol Invest 2009 0.77
52 Effects of recombinant human insulin-like growth factor I administration on the growth hormone (gh) response to GH-releasing hormone in obesity. J Clin Endocrinol Metab 2001 0.77
53 Potential gene sequence isolation and regional mapping in human chromosome 21. Am J Med Genet Suppl 1990 0.77
54 Highly polymorphic repeat marker within the beta-amyloid precursor protein gene. Hum Genet 1994 0.76
55 New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease. Clin Genet 2012 0.76
56 Molecular and cytogenetic characterization of a Chinese hamster/human hybrid cell line containing a der (21)t(Ypter-->cenY::cen21-->21qter) chromosome. Genomics 1993 0.76
57 A family with two female siblings with compound heterozygous FMR1 premutation alleles. Clin Genet 2013 0.76
58 D21S170 maps to terminal 21q22.3. Nucleic Acids Res 1990 0.75
59 Dinucleotide repeat polymorphism at the D21S65 locus. Hum Mol Genet 1992 0.75
60 [New method of percutaneous implantation of a definitive pacemaker]. Arch Sci Med (Torino) 1981 0.75
61 Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development. Am J Med Genet 1999 0.75
62 Modulation of human platelet function by L-canavanine: differential effects of low and high concentrations. Gen Pharmacol 1999 0.75
63 Functioning and non-functioning pituitary adenomas in 173 adult and elderly patients. J Endocrinol Invest 2002 0.75
64 Both fasting-induced leptin reduction and GH increase are blunted in Cushing's syndrome and in simple obesity. Clin Endocrinol (Oxf) 2003 0.75
65 GH response to GHRH combined with pyridostigmine or arginine in different conditions of low somatotrope secretion in adulthood: obesity and Cushing's syndrome in comparison with hypopituitarism. Minerva Endocrinol 2000 0.75
66 Effect of journey time and environmental condition on bull behaviour and beef quality during road transport in northern Italy. Dtsch Tierarztl Wochenschr 2003 0.75
67 Effect of farm floor type on the behaviour of heavy pigs during pre-slaughter handling. Vet Res Commun 2007 0.75
68 [Clinical contribution in the treatment of paroxysmal tachycardia]. Minerva Med 1974 0.75
69 Family and population studies of SAHH and ADA polymorphisms. A possible pitfall in the ascertainment of SAHH electrophoretic phenotypes. Ann Hum Genet 1987 0.75
70 GH response to GHRH combined with pyridostigmine or arginine in different conditions of low somatotrope secretion in adulthood: obesity and Cushing's syndrome in comparison with hypopituitarism. Panminerva Med 1998 0.75
71 [Transvenous cardioversion in the treatment of sustained ventricular tachycardia. Preliminary results in 3 patients with implantable cardioverter]. G Ital Cardiol 1986 0.75
72 L-arginine modulates aggregation and intracellular cyclic 3,5-guanosine monophosphate levels in human platelets: direct effect and interplay with antioxidative thiol agent. Thromb Res 1999 0.75
73 Effect of the slaughterhouse on the incidence of defects in raw pig ham destined to the dry-curing process. Vet Res Commun 2008 0.75
74 The nutritional status has no major role in the age-related reduction of IGF-I secretion. J Endocrinol Invest 2002 0.75
75 [Combination of amiloride chlorhydrate and hydrochlorothiazide in the ambulatory treatment of mild and moderate hypertension]. Clin Ter 1976 0.75
76 A rare case of adulthood-onset growth hormone deficiency presenting as sporadic, symptomatic hypoglycemia. J Endocrinol Invest 2004 0.75
77 [Use of esophageal leads in the diagnosis of myocardial infarct with a postero-inferior site]. G Ital Cardiol 1979 0.75
78 IGF-I levels in different conditions of low somatotrope secretion in adulthood: obesity in comparison with GH deficiency. Panminerva Med 1998 0.75
79 Interplay between serum osteocalcin and insulin sensitivity in primary hyperparathyroidism. Calcif Tissue Int 2011 0.75
80 [Newborn heart decompensation due to rhythm disorders. Apropos of a case]. Minerva Pediatr 1976 0.75
81 [Oculo-orbital complications of acute sinusitis in childhood]. Minerva Pediatr 1971 0.75
82 [Electrophysiological study in a subject with trifascicular block (author's transl)]. G Ital Cardiol 1981 0.75
83 [Bifid epiglottis in a subject with multiple malformations. Case report]. Minerva Pediatr 1983 0.75
84 Effect of resting time of pigs and pre-chilling time of thighs on the veining defect of parma dry-cured ham. Vet Res Commun 2005 0.75
85 [Adrenergic receptors in coronary arteries (author's transl)]. G Ital Cardiol 1977 0.75
86 [A new dual-chamber pacemaker with an automatic antitachycardia system in the treatment of the bradycardia-tachycardia syndrome]. G Ital Cardiol 1985 0.75
87 Effect of stunning voltage and scalding method on the incidence of the "red skin" defect of Parma ham. Vet Res Commun 2009 0.75