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排序方式: 共有98条查询结果,搜索用时 15 毫秒
51.
Filosto M Rossi G Pelizzari AM Buzio S Tentorio M Broglio L Mancuso M Rinaldi M Scarpelli M Padovani A 《Journal of the neurological sciences》2007,263(1-2):40-43
Bortezomib, a proteasome inhibitor used in the treatment of multiple myeloma, is known to induce an axonal, dose-dependent neuropathy clinically characterized by pain, paresthesias, burning dysesthesias and numbness. In this study, we describe a patient treated with high-dose bortezomib whose main clinical feature was severe sensory ataxia. Electrodiagnostic studies showed, other than axonal changes, myelin involvement. 相似文献
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Filosto M Tonin P Scarpelli M Savio C Greco F Mancuso M Vattemi G Govoni V Rizzuto N Tupler R Tomelleri G 《Neuromuscular disorders : NMD》2008,18(3):204-209
Point mutations in mtDNA-encoded tRNA genes frequently cause isolated myopathies but rarely cause the facioscapulohumeral phenotype. We report on a patient affected with chronic progressive weakness of facioscapulohumeral/peroneal muscles whose muscle biopsy showed a mitochondrial myopathy. mtDNA direct sequencing and RFLP analysis revealed a heteroplasmic transition T12313C which disrupts a conserved site in the T Psi C stem of the tRNA(Leu(CUN)) gene and fulfills the accepted criteria of pathogenicity. A partial deletion of the nuclear DNA D4Z4 region with residual repeat sizes of 25 kb was also found in the patient and in her mother. This is the first reported case of mitochondrial myopathy/facioscapulohumeral muscular dystrophy (FSHD) "double trouble". 相似文献
54.
Angelini C Semplicini C Ravaglia S Bembi B Servidei S Pegoraro E Moggio M Filosto M Sette E Crescimanno G Tonin P Parini R Morandi L Marrosu G Greco G Musumeci O Di Iorio G Siciliano G Donati MA Carubbi F Ermani M Mongini T Toscano A;Italian GSDII Group 《Journal of neurology》2012,259(5):952-958
The objective of this study was to describe a large Italian cohort of patients with late-onset glycogen storage disease type 2 (GSDII) at various stages of disease progression and to evaluate the clinical effectiveness of alglucosidase alpha enzyme replacement therapy (ERT). Previous studies showed in late-onset patients ERT efficacy against placebo and variable response in uncontrolled studies. Seventy-four juvenile or adult GSDII patients were treated with ERT in a multicenter open label, non-randomized study, from 12 months up to 54 months. Recombinant human alpha glucosidase (rh-GAA) was injected by intravenous route at 20 mg/kg every second week. Patients were divided into three groups according to ERT duration: Group A received treatment for 12-23 months (n = 16), Group B for 24-35 months (n = 14), and Group C for more than 36 months (n = 44). Clinical assessment included a 6-min walk test (6MWT), forced vital capacity (FVC), the Walton and Gardner-Medwin score, the number of hours of ventilation, body mass index, echocardiography and blood creatine kinase (CK). Included in our cohort were 33 males and 41 females (M:F = 0.8:1), with a mean age at first symptoms of 28.3 years (range 2-55 years) and a mean age of 43 years at study entry (range 7-72 years). Seven wheelchair bound patients, as well as 27 patients requiring ventilation support, were included. After treatment we could observe an increase in distance walked on the 6MWT in the large majority of patients (48/58; 83%), with an overall mean increase of 63 m (from 320 ± 161 to 383 ± 178 m). After treatment in the majority of patients FVC was improved or unchanged (45/69; 65%). In ventilated patients we observed an improvement in average number of hours off the ventilator (from 15.6 to 12.1 h). Six patients stopped mechanical ventilation and two others started it. The effect of therapy was not related to ERT duration. Nine of 64 patients (13%) that underwent to echocardiography showed a variable degree of cardiac hypertrophy (left ventriculum or septum), and a positive effect was observed after 36 months of ERT in one adult case. Discontinuation of treatment occurred in four patients: one drop-off case, one patient died for a sepsis after 34 months of treatment and two patients stopped ERT for worsening of general clinical condition. Mild adverse effects were observed in four cases (5%). This study represents the largest cohort of late-onset GSDII patients treated with ERT, and confirm a positive effect of treatment. These results, obtained in a large case series on therapy, indicate a favourable effect of ERT therapy, even in more advanced stage of the disease. 相似文献
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B. Fierro G. Croce L. Filosto N. Carbone I. Lupo 《The Italian Journal of Neurological Sciences》1991,12(6):593-596
A case presenting with clinical features of ocular myasthenia and a false-positive edrophonium test is reported. Brain CT
and MRI scan revealed a pineal region tumor histologically verified as germinoma. We recommend evaluating patients with clinical
features of myasthenia gravis (MG) confined to the ocular muscles for intracranial mass lesions.
Sommario Viene descritto un caso di tumore della regione pineale che presentava caratteristiche cliniche e farmacologiche (test all'edrofonio) di miastenia oculare.相似文献
58.
Maria Elena Lombardo Elena Carraro Cristina Sancricca Michela Armando Michela Catteruccia Elena Mazzone Giulia Ricci Ferdinando Salamino Filippo Maria Santorelli Massimiliano Filosto UILDM Italian Consensus Conference Group on motor rehabilitation in muscular dystrophy 《Acta myologica》2021,40(2):72
Muscular dystrophy (MD) is a group of neuromuscular diseases characterized by progressive muscle weakness due to various mutations in several genes involved in muscle structure and function. The age at onset, evolution and severity of the different forms of MD can vary and there is often impairment of motor function and activities of daily living. Although there have been important scientific advances with regard to pharmacological therapies for many forms of MD, rehabilitation management remains central to ensuring the patient’s psychophysical well-being. Here we report the results of an Italian consensus conference promoted by UILDM (Unione Italiana Lotta alla Distrofia Muscolare, the Italian Muscular Dystrophy Association) in order to establish general indications and agreed protocols for motor rehabilitation of the different forms of MD.Key words: muscular dystrophy, rehabilitation, exercise 相似文献
59.
Orsucci D. Angelini C. Bertini E. Carelli V. Comi G. P. Federico A. Minetti C. Moggio M. Mongini T. Santorelli F. M. Servidei S. Tonin P. Ardissone A. Bello L. Bruno C. Ienco E. Caldarazzo Diodato D. Filosto M. Lamperti C. Moroni I. Musumeci O. Pegoraro E. Primiano G. Ronchi D. Rubegni A. Salvatore S. Sciacco M. Valentino M. L. Vercelli L. Toscano A. Zeviani M. Siciliano G. Mancuso M. 《Journal of neurology》2017,264(8):1777-1784
Journal of Neurology - Ocular myopathy, typically manifesting as progressive external ophthalmoplegia (PEO), is among the most common mitochondrial phenotypes. The purpose of this study is to... 相似文献
60.
Mancuso M Filosto M Bellan M Liguori R Montagna P Baruzzi A DiMauro S Carelli V 《Neurology》2004,62(2):316-318
The authors identified two novel heterozygous missense transitions in the gene for the mitochondrial polymerase gammaA subunit (POLG) in a family with an autosomal recessive syndrome comprising progressive external ophthalmoplegia (PEO), polyneuropathy, ataxia, sensorineural hearing loss, and affective disorders. These mutations were not detected in 120 healthy control subjects. 相似文献