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OBJECTIVE:
To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedy''s disease.METHODS:
Ten patients (from 7 families) with a genetic diagnosis of Kennedy''s disease were screened for the presence of tremor using a standardized clinical protocol and followed up at a neurology outpatient clinic. All index patients were genotyped and showed an expanded allele in the androgen receptor gene.RESULTS:
Mean patient age was 37.6 years and mean number of CAG repeats 47 (44-53). Tremor was present in 8 (80%) patients and was predominantly postural hand tremor. Alcohol responsiveness was detected in 7 (88%) patients with tremor, who all responded well to treatment with a β-blocker (propranolol).CONCLUSION:
Tremor is a common feature in patients with Kennedy''s disease and has characteristics similar to those of essential tremor. 相似文献43.
44.
IntroductionSeveral recent reports have linked the use of dopamine agonists (DAs) to a variety of compulsive behaviors in patients with Parkinson's disease (PD). These inappropriate behaviors may include pathological gambling, compulsive shopping, and hypersexuality.AimTo report the case of a patient with increased range of sexual behavior after use of pramipexole, a DA.MethodsA 67-year-old man with a 7-year diagnosis of PD treated with levodopa and pramipexole presented with a dramatic change in sexual behavior after an increase in DA dose.ResultsThe patient, who historically was a very shy and conservative person, started to present increased frequency of sexual intercourse with his wife, during which he began speaking obscenities with an extreme preference for anal intercourse, preferences never requested before. After pramipexole was withdrawn, complete remission was observed with return to his usual sexual behavior.ConclusionsHypersexuality and paraphilias are complications not uncommonly found in patients with PD under dopaminergic treatment. Further studies are needed for the understanding of this complex complication, and particularly the most prevalent relationship between pathological hypersexuality and use of DAs. Munhoz RP, Fabiani G, Becker N, and Teive HAG. Increased frequency and range of sexual behavior in a patient with Parkinson's disease after use of pramipexole: A case report. J Sex Med **;**:**–**. 相似文献
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Fernando Spina Tensini Mario T. Sato Naoye Shiokawa Tetsuo Ashizawa Hélio A. G. Teive 《Cerebellum (London, England)》2017,16(4):797-801
SCA3 presents with a CAG expansion at 14q24.3-q32 while SCA10 shows an ATTCT expansion at 22q13-qter. SCA10 seems to be less aggressive than SCA3. For an in vivo, noninvasive approach of the correlation between central nervous system and clinical evolution, we can use optic coherence tomography (OCT) to measure retinal nerve fiber (RNFL) and ganglion cell layer (GCL) thickness. To describe OCT findings in SCA10, correlate it with expansion size and disease severity and compare with those of SCA3. We analyzed ten individuals with SCA3 and nine with SCA10 recruited from the neurology service of Hospital de Clínicas of Paraná—Brazil. They were submitted to OCT and clinical evaluation using SARA score. Expansion size, demographic data, time from disease onset, and age of onset were collected. We found no correlation between size of expansion, SARA, and RNFL or GCL thickness in SCA10. RNFL seemed to be thicker in SCA10 (p > 0.05). GCL thickness, SARA, median age, and time from disease onset did not differ between groups. SCA10 individuals had an earlier disease onset. In SCA3, there was a negative correlation between SARA and RNFL thickness in nasal area. To the best of our knowledge, this is the first paper assessing retinal changes by OCT in individuals with SCA10. The lack of correlation between disease progression, age, and time since onset supports the anatomopathological findings which suggest SCA10 is less aggressive than other SCAs. The findings in SCA3 are in accordance with the literature. 相似文献
47.
The authors review some particularities of movement disorders (MDs) in the ethnically diverse population of Latin America. Although idiopathic diseases are evenly prevalent, access to treatment encounters difficulties that are worth discussing. Infectious-parasitic diseases observed throughout the continent occasionally present as MDs, and will be individually reviewed. Inherited MDs with regional foci of increased prevalence, particularly spinocerebellar ataxias, will also be considered. Whereas there is no treatment for genetic disorders, most of the other conditions are preventable or amenable to adequate treatment. Hope for better health standards for the Latin American population lies in profound social and political changes that are still to come. 相似文献
48.
Jorge A. Zavala Renato P. Munhoz Hélio A.G. Teive 《Journal of clinical neuroscience》2012,19(9):1298-1299
Pramipexole is a non-ergot dopamine agonist that is used frequently as a single therapy or in combination for the management of Parkinson’s disease. Common side effects are daytime drowsiness, hypotension, hallucinations and compulsive behaviour. We describe a patient who developed severe chronic and extensive lymphoedema after pramipexole was introduced and that resolved after its cessation. 相似文献
49.
We describe three cases of aphasia in patients who were internationally famous historical personalities, such as the case of Mr. Leborgne ("Tan") published by Paul Broca in 1861, which became a reference for the study of aphasias. The other cases described here are those of the Russian revolutionary and politician Vladimir Ilyitch Ulianov (Lenin) ("Vot-vot") and the French poet Charles Baudelaire ("Cré nom!"). Besides their historical relevance and the clinical picture of aphasia, these three cases share as a common feature the occurrence of speech automatisms or stereotypes. 相似文献
50.