PubRank

C P Trevisan

Author PubWeight™ 24.03‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009 2.33
2 Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology 1998 1.42
3 Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet 2009 1.35
4 Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet 1996 1.24
5 Molecular diagnosis in LGMD2A: mutation analysis or protein testing? Hum Mutat 2004 1.10
6 Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology 2007 1.07
7 Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2. J Neurol 2010 1.07
8 Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet 1997 0.97
9 Congenital muscular dystrophy with partial merosin deficiency and late onset epilepsy. Eur Neurol 1998 0.89
10 Congenital muscular dystrophies with cognitive impairment. A population study. Neurology 2010 0.88
11 Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. Neurol Sci 2005 0.85
12 Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia. J Neurol Sci 1998 0.85
13 A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy. Neurology 2000 0.85
14 POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. Neuromuscul Disord 2008 0.85
15 Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study. Eur J Neurol 2006 0.85
16 Beta-oxidation enzymes in normal human muscle and in muscle from a patient with an unusual form of myopathic carnitine deficiency. Muscle Nerve 1985 0.81
17 Exercise-induced recurrent myoglobinuria: defective activity of inner carnitine palmitoyltransferase in muscle mitochondria of two patients. Neurology 1987 0.80
18 Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II. Neurology 1984 0.79
19 Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. J Med Genet 2002 0.79
20 Prenatal diagnosis in congenital muscular dystrophy. Lancet 1995 0.78
21 Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy. J Neurol 1999 0.78
22 Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis. Hum Mutat 1997 0.78
23 Prevalence of inherited ataxias in the province of Padua, Italy. Neuroepidemiology 2004 0.77
24 Anosmia associated with hearing loss and benign positional vertigo after head trauma. Acta Otorhinolaryngol Ital 2009 0.75
25 [Therapeutic effects of trazodone in the treatment of tremor. Multicentric double-blind study]. Riv Neurol 1987 0.75
26 Malonyl-CoA abnormal inhibition of residual enzyme activity in carnitine palmitoyltransferase deficiency. Eur Neurol 1986 0.75
27 [Epidemiologic study of epilepsy in the population of Este-Montagnana (U.L.S.S. 22-Veneto Region)]. Riv Neurol 1991 0.75
28 Superficial hemosiderosis of the central nervous system. A case report. Acta Neurol (Napoli) 1994 0.75
29 Friedreich's ataxia: clinical heterogeneity in two sisters. Neurol Sci 2006 0.75
30 [Type I Arnold-Chiari malformation: diagnostic considerations in a case]. Riv Neurol 1990 0.75
31 [A case of polymyositis in autoimmune thyroiditis with hyperthyroidism]. Riv Neurol 1991 0.75
32 Prevalence of unsuspected myopathy in infants presenting for clubfoot surgery. Paediatr Anaesth 1995 0.75