Research Topics
Species | C P TrevisanSummaryAffiliation: University of Padova Country: Italy Publications
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Detail Information
Publications
Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular DystrophyEbe Pastorello
Department of Neurosciences, University of Padua, Padua, Italy
Clin Neurol Neurosurg 114:230-4. 2012..Atypical presentations have occasionally been reported, but their frequency has still not been defined...
Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletionsC P Trevisan
Department of Neurosciences, University of Padua, Padua, Italy
Eur J Neurol 15:1353-8. 2008..We explored the clinical presentation of patients with a very short 4q35 fragment (10-13 kb) focusing on hearing loss, a still debated FSHD extra-muscular manifestation...
Facioscapulohumeral muscular dystrophy: a multicenter study on hearing functionCarlo P Trevisan
Department of Neurological and Psychiatric Sciences, University of Padua, Padua, Italy
Audiol Neurootol 13:1-6. 2008..Overall, the results of our multicenter study suggest that hearing loss in typical FSHD is not more prevalent than in the normal population...- Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmiaCarlo Pietro Trevisan
Department of Neurosciences, University of Padua, Padua, Italy
Eur Neurol 56:1-5. 2006..Although with heterogeneous results, studies reported to date indicate that heart alterations unrelated to cardiomyopathy are possible in FSHD... - Friedreich's ataxia: clinical heterogeneity in two sistersM Armani
Department of Neurosciences, Second Neurological Clinic, S Antonio Hospital, University of Padova, Via Facciolati 71, I 35100, Padova, Italy
Neurol Sci 27:140-2. 2006..On the whole, clinical and genetic data on these patients confirmed that FARR is a variant phenotype of FRDA... - Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotypeC P Trevisan
Department of Neurological and Psychiatric Sciences, University of Padua, V Vendramini 7, 35100 Padua, Italy
Brain Dev 23:108-14. 2001.... - Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sampleM L Mostacciuolo
Department of Biology, University of Padua, Padua, Italy
Clin Genet 75:550-5. 2009..On the whole, estimating a prevalence rate of 44 x 10(-6), our survey confirmed FSHD as one of the most frequent neuromuscular disorders in Western populations... - Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1S Salvatori
Department of Biomedical Sciences, University of Padova, Viale G Colombo 3, Padova, Italy
Neurol Sci 26:235-42. 2005..However, the fibre type composition in skeletal muscle seemed somehow to affect DMPK decrease, as the lowest level of the enzyme was found in patients with the lowest content of type 1 fibre... - A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophyE Pegoraro
Department of Neurological and Psychiatric Sciences, University of Padova, Italy
Neurology 55:1128-34. 2000..The reason for the variation in the severity of the clinical phenotype in congenital muscular dystrophy (CMD) with laminin alpha2 deficiency is not known... - Molecular diagnosis in LGMD2A: mutation analysis or protein testing?M Fanin
Department of Neurosciences, University of Padova, Italy
Hum Mutat 24:52-62. 2004..This study reports the largest collection of LGMD2A patients so far in which both protein and gene mutations were obtained to draw genotype-protein-phenotype correlations and provide insights into a critical protein domain... - Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging studyM C Mantovan
Department of Neurology, Venice Hospital, University of Padua, Padua, Italy
Eur J Neurol 13:827-35. 2006..Cognitive impairment, mood disorders and motor deficits in FRDA patients may be the result of the cumulative damage caused by frataxin deficiency not only in the cerebellum and spinal cord but also in other brain areas... - Prevalence of inherited ataxias in the province of Padua, ItalyM Zortea
Department of Neurological and Psychiatric Sciences, University of Padua, Padua, Italy
Neuroepidemiology 23:275-80. 2004..There were very rare cases of ataxia telangiectasia, ataxia with vitamin E deficiency and cerebellar ataxia with congenital muscular dystrophy, a recently identified autosomal recessive disease... - Anosmia associated with hearing loss and benign positional vertigo after head traumaG Ottaviano
Department of Otolaryngology Head and Neck Surgery, University of Padua, Via Giustiniani 2, Padua, Italy
Acta Otorhinolaryngol Ital 29:270-3. 2009..ENT specialists should, in the authors' opinion, be aware of the possible association between anosmia, sensorineural hearing loss and benign paroxysmal positional vertigo after head injury, even in the absence of skull fracture... - Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2Vincenzo Romeo
Department of Neurosciences, School of Medicine, University of Padova, Via Giustiniani, 5, 35128 Padua, Italy
J Neurol 257:1246-55. 2010..A temporo-insular diffuse lesional pattern, specific for DM1, was found on MRI. This confirms greater expansion size as a risk factor for more extensive brain involvement in DM1... - Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1M Zortea
Department of Biology, University of Padua, Padua, Italy
J Med Genet 39:387-90. 2002..3-q24.1. This is the first time that disc herniation and the associated neurological syndrome has been linked to a human chromosomal region...