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排序方式: 共有98条查询结果,搜索用时 15 毫秒
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Mancuso M Conforti FL Rocchi A Tessitore A Muglia M Tedeschi G Panza D Monsurrò M Sola P Mandrioli J Choub A DelCorona A Manca ML Mazzei R Sprovieri T Filosto M Salviati A Valentino P Bono F Caracciolo M Simone IL La Bella V Majorana G Siciliano G Murri L Quattrone A 《Neuroscience letters》2004,371(2-3):158-162
Mitochondrial impairment has been implicated in the pathogenesis of the amyotrophic lateral sclerosis (ALS). Furthermore, mitochondrial-specific polymorphisms were previously related to other neurodegenerative diseases, such as Parkinson, Friedreich and Alzheimer disease. To investigate if specific genetic polymorphisms within the mitochondrial genome (mtDNA) could act as susceptibility factors and contribute to the clinical expression of sporadic ALS (sALS), we have genotyped predefined European mtDNA haplogroups in 222 Italian patients with sALS and 151 matched controls. Individuals classified as haplogroup I demonstrated a significant decrease in risk of ALS versus individuals carrying the most common haplogroup, H (odds ratio 0.08, 95% confidence interval 0.04-0.4, p < 0.01). Further stratification of the dataset by sex, age and site of onset of disease and survival failed to reach significance for association. Our study provides evidence of the contribution of mitochondrial variation to the risk of ALS development in Caucasians. Further it may help elucidate the mechanism of the mitochondrial dysfunction detectable in ALS, and may be of relevance in development of strategies for the treatment of this disease. 相似文献
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C. Angelini C. Semplicini S. Ravaglia B. Bembi S. Servidei M. Moggio M. Filosto E. Sette E. Pegoraro G. Crescimanno P. Tonin R. Parini L. Morandi G. Marrosu G. Greco O. Musumeci G. Di Iorio G. Siciliano M.A. Donati T. Mongini A. Toscano L. Vercelli R. Di Giacopo V. Lucchini V. Tugnoli M. Rigoldi R. Piras F. Giannini S. Gasperini L. Volpi D. Diodato A. Ariatti 《Acta myologica》2011,30(2):152
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Montano V. Orsucci D. Carelli V. La Morgia C. Valentino M. L. Lamperti C. Marchet S. Musumeci O. Toscano A. Primiano G. Santorelli F. M. Ticci C. Filosto M. Rubegni A. Mongini T. Tonin P. Servidei S. Ceravolo R. Siciliano G. Mancuso Michelangelo 《Journal of neurology》2022,269(3):1413-1421
Journal of Neurology - Both prevalence and clinical features of the various movement disorders in adults with primary mitochondrial diseases are unknown. Based on the database of the... 相似文献
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Spina Emanuele Doneddu Pietro Emiliano Liberatore Giuseppe Cocito Dario Fazio Raffaella Briani Chiara Filosto Massimiliano Benedetti Luana Antonini Giovanni Cosentino Giuseppe Jann Stefano Mazzeo Anna Cortese Andrea Marfia Girolama Alessandra Clerici Angelo Maurizio Siciliano Gabriele Carpo Marinella Luigetti Marco Lauria Giuseppe Rosso Tiziana Cavaletti Guido Peci Erdita Tronci Stefano Ruiz Marta Piccinelli Stefano Cotti Schenone Angelo Leonardi Luca Gentile Luca Piccolo Laura Mataluni Giorgia Santoro Lucio Nobile-Orazio Eduardo Manganelli Fiore 《Journal of neurology》2022,269(2):907-912
Journal of Neurology - Compression of the median nerve at the carpal tunnel can give demyelinating features and result in distal motor latency (DML) prolongation fulfilling the EFNS/PNS... 相似文献
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Diamanti Luca Borrelli Paola Dubbioso Raffaele Capasso Margherita Morelli Claudia Lunetta Christian Petrucci Antonio Mora Gabriele Volanti Paolo Inghilleri Maurizio Tremolizzo Lucio Mandrioli Jessica Mazzini Letizia Vedovello Marcella Siciliano Gabriele Filosto Massimiliano Mat Sabrina Montomoli Cristina 《Neurological sciences》2022,43(5):3195-3200
Neurological Sciences - Dysphagia is a common symptom during the trajectory of ALS, and it can significantly impact on the quality of life and prognosis of patients. Nowadays, no specific tool for... 相似文献
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Michelangelo Mancuso Daniele Orsucci Corrado Angelini Enrico Bertini Michela Catteruccia Elena Pegoraro Valerio Carelli Maria L. Valentino Giacomo P. Comi Carlo Minetti Claudio Bruno Maurizio Moggio Elena Caldarazzo Ienco Tiziana Mongini Liliana Vercelli Guido Primiano Serenella Servidei Paola Tonin Mauro Scarpelli Antonio Toscano Olimpia Musumeci Isabella Moroni Graziella Uziel Filippo M. Santorelli Claudia Nesti Massimiliano Filosto Costanza Lamperti Massimo Zeviani Gabriele Siciliano 《Movement disorders》2014,29(6):722-728
Myoclonus is a possible manifestation of mitochondrial disorders, and its presence is considered, in association with epilepsy and the ragged red fibers, pivotal for the syndromic diagnosis of MERRF (myoclonic epilepsy with ragged red fibers). However, its prevalence in mitochondrial diseases is not known. The aims of this study are the evaluation of the prevalence of myoclonus in a big cohort of mitochondrial patients and the clinical characterization of these subjects. Based on the database of the “Nation‐wide Italian Collaborative Network of Mitochondrial Diseases,” we reviewed the clinical and molecular data of mitochondrial patients with myoclonus among their clinical features. Myoclonus is a rather uncommon clinical feature of mitochondrial diseases (3.6% of 1,086 patients registered in our database). It is not strictly linked to a specific genotype or phenotype, and only 1 of 3 patients with MERRF harbors the 8344A>G mutation (frequently labeled as “the MERRF mutation”). Finally, myoclonus is not inextricably linked to epilepsy in MERRF patients, but more to cerebellar ataxia. In a myoclonic patient, evidences of mitochondrial dysfunction must be investigated, even though myoclonus is not a common sign of mitochondriopathy. Clinical, histological, and biochemical data may predict the finding of a mitochondrial or nuclear DNA mutation. Finally, this study reinforces the notion that myoclonus is not inextricably linked to epilepsy in MERRF patients, and therefore the term “myoclonic epilepsy” seems inadequate and potentially misleading. © 2014 International Parkinson and Movement Disorder Society 相似文献
9.
Dario Cocito Aristide Merola Erdita Peci Anna Mazzeo Raffaella Fazio Ada Francia Paola Valentino Rocco Liguori Massimiliano Filosto Gabriele Siciliano Angelo Maurizio Clerici Stefania Lelli Girolama Alessandra Marfia Giovanni Antonini Ilaria Cecconi Eduardo Nobile-Orazio Leonardo Lopiano SCIg Chronic Dysimmune Neuropathies Italian Network 《Journal of neurology》2014,261(11):2159-2164
This multi-center Italian prospective observational study reports the 4 months follow-up data of 87 patients affected by chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy (MMN) shifted from intravenous to subcutaneous immunoglobulin treatment. A therapeutic shift from intravenous to subcutaneous immunoglobulin was performed in 87 patients (66 CIDP; 21 MMN) affected by immune-mediated peripheral neuropathies with evidence of a sustained clinical response to intravenous immunoglobulin. Patients were evaluated by means of the Overall Neuropathy Limitation Scale, Medical Research Council Scale and Life Quality Index questionnaire, both at the time of therapeutic shift and after 4 months of subcutaneous immunoglobulin treatment. A sustained clinical efficacy was observed after the switch to subcutaneous immunoglobulin: the Overall Neuropathy Limitation Scale score improved in the group of 66 CIDP patients (P = 0.018), with only one subject reporting a worsening of 1 point, and remained stable in the group of 21 MMN patients (P = 0.841), with one subject reporting a worsening of two points. An improvement in the patient’s perception of therapeutic setting was reported in both groups. This large multi-center study confirms the short-term clinical equivalence of subcutaneous versus intravenous immunoglobulin and a possible improvement in the patient’s perception of therapeutic setting with the subcutaneous administration. However, further studies are required to extend the results to a longer observational period. 相似文献
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Michelangelo Mancuso Daniele Orsucci Corrado Angelini Enrico Bertini Valerio Carelli Giacomo Pietro Comi Maria Alice Donati Antonio Federico Carlo Minetti Maurizio Moggio Tiziana Mongini Filippo Maria Santorelli Serenella Servidei Paola Tonin Antonio Toscano Claudio Bruno Luca Bello Elena Caldarazzo Ienco Elena Cardaioli Michela Catteruccia Paola Da Pozzo Massimiliano Filosto Costanza Lamperti Isabella Moroni Olimpia Musumeci Elena Pegoraro Dario Ronchi Donato Sauchelli Mauro Scarpelli Monica Sciacco Maria Lucia Valentino Liliana Vercelli Massimo Zeviani Gabriele Siciliano 《Journal of neurology》2015,262(5):1301-1309