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排序方式: 共有132条查询结果,搜索用时 15 毫秒
1.
Katja Kobow Christopher A. Reid Erwin A. van Vliet Albert J. Becker Gemma L. Carvill Alica M. Goldman Shinichi Hirose Iscia Lopes-Cendes Hela Mrabet Khiari Annapurna Poduri Michael R. Johnson David C. Henshall 《Epileptic Disord》2020,22(2):127-141
Epigenetics refers broadly to processes that influence medium to long‐term gene expression by changing the readability and accessibility of the genetic code. The Neurobiology Commission of the International League Against Epilepsy (ILAE) recently convened a Task Force to explore and disseminate advances in epigenetics to better understand their role and intersection with genetics and the neurobiology of epilepsies and their co‐morbidities, and to accelerate translation of these findings into the development of better therapies. Here, we provide a topic primer on epigenetics, explaining the key processes and findings to date in experimental and human epilepsy. We review the growing list of genes with epigenetic functions that have been linked with epilepsy in humans. We consider potential practical applications, including using epigenetic signals as biomarkers for tissue‐ and biofluid‐based diagnostics and the prospects for developing epigenetic‐based treatments for epilepsy. We include a glossary of terms, FAQs and other supports to facilitate a broad understanding of the topic for the non‐expert. Last, we review the limitations, research gaps and the next challenges. In summary, epigenetic processes represent important mechanisms controlling the activity of genes, providing opportunities for insight into disease mechanisms, biomarkers and novel therapies for epilepsy. 相似文献
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el Bahri Ben Mrad F Fredj M Skandrani L Kaddour C Gouider R Mrabet A 《La Tunisie médicale》2002,80(2):87-89
Behcet's disease is a chronic relapsing multisystem disorder of unknown etiology. Neurological complications are frequent, occurring in 10 to 49% of cases. We report 4 cases with Behcet's disease (3 females and 1 male) who had symptomatic intracranial hypertension due to cerebral venous sinus thrombosis within a mean delay of 2 years. The mean age at onset was 31 years and the mean age on referral was 39.5 years. The predominant manifestation in our series were headache, papilledema, seizures and pyramidal syndromes. CT Scan showed non specific abnormalities in all of them and the sinus venous thrombosis was confirmed by MRI in 3 cases. The authors emphasize on the importance of MRI with angio MRI for the diagnosis, the outcome and the evaluation of the cerebral venous thrombosis after treatment. 相似文献
3.
el Bahri-Ben Mrad F Gouider R Fredj M Ben Becher S Mrad-Mazigh S Mrabet A 《Functional neurology》2000,15(1):35-40
Clinical diabetic neuropathy in childhood is rare, but electrophysiological involvement of the peripheral nerve is more frequent. We assessed clinically and electrophysiologically the peripheral nervous system of 69 children and adolescents suffering from diabetes mellitus (DM). The mean age of the patients was 12.8 years and the mean age at onset of DM was 6.8 years with a mean disease duration of 6.3 years. Seven patients (10%) had clinical neuropathy of which ankle jerk reflex abolition was the most frequent sign. Twenty patients (29%) had a neurophysiological neuropathy prevalently affecting the lower limbs. Peripheral neuropathy was correlated with patient age, older age at onset, duration of DM, height and poor glycaemic control. 相似文献
4.
Remédiation cognitive et fonctionnement scolaire chez les enfants avec trouble du spectre autistique
M. Hajri Z. Abbes H. Ben Yahia M. Boudali A. Bouden A. Mrabet I. Amado 《Neuropsychiatrie de l'enfance et de l'adolescence》2019,67(1):19-24
Introduction
Autism Spectrum Disorder (ASD) is known to be associated with Cognitive impairment, especially executive dysfunction. Cognitive Remediation Therapy (CRT) is a rehabilitation method aiming to produce improvement in cognitive processes by teaching information processing strategies through guided mental exercises. CRT has been used in patients with schizophrenia. Taking into account the overlap between ASD and schizophrenia, we aimed in this study to examine the effectiveness of CRT for cognitive flexibility, inhibition and school results in children with ASD.Methods
Children meeting the Diagnostic and Statistical Manual for Mental Disorders (DSM-5) criteria for ASD were recruited from a clinical population at the Child and Adolescent Psychiatry Department in Razi University Hospital, Manouba, Tunisia. The CRT program was conducted at the rate of one session per week of 45 minutes each. The outcome measures were cognitive flexibility (by the mean of phonemic and semantic fluency), inhibition (using either Hayling Sentence Completion Task or Colors and Animals Attention Test [CAAT]), and school performance (assessed by school results). These outcomes were measured at baseline and one week after completion of the treatment.Results
Of the 25 patients included, 16 achieved assessments tests after CRT, thus constituting our final sample. Their average age was 10.87 years. The average number of the performed sessions was 22.38. For semantic fluency, the mean score in “animals” category was 13.94 before CRT and 17 after it (P = 0.045). Concerning the “clothes” category, the mean score increased from 10.47 to 12 after completion of the program. As for phonemic fluency scores, patients displayed significant improvement (P = 0.032). Patients committed more repetitive and intrusive errors, an increase significant only on the “clothes” category. After achievement of the CRT program, a significant improvement was also shown on school results (P = 0.001). Concerning inhibition tests, patients showed no significant improvement.Conclusion
The findings provide support for the effectiveness of CRT for enhancing executive functions in children and adolescents with ASD. Further studies are required to examine the durability of CRT effects in these children. 相似文献5.
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The surgical and prosthetic treatment of longitudinal lower limb deficiency is described and discussed, in the light of cultural and social requirements. Those with upper limb deficiencies are not fitted with prostheses. 相似文献
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Introduction
Parry-Romberg syndrome is a rare entity of unknown etiology, characterized by hemifacial or hemibody atrophy affecting subcutaneous tissues. Its main clinical manifestations are neurological, ocular and dermatological. Paroxysmal kinesigenic dyskinesia (PKD) is characterized by brief episodes of choreic/dystonic movements triggered by sudden movements and improved by antiepileptic drugs particularly carbamazepine. It can be sporadic or familial with an autosomal dominant inheritance. Little is known about the pathophysiology of PKD, although a channelopathy is thought likely. The association of these two diseases is rare.Case report
Over three years, a 42-year-old patient progressively developed left hemiatrophy. Since age 14, he presented paroxysmal dystonic disorders of the limbs triggered by sudden movements and controlled by carbamazepine. The diagnosis of PKD associated with Parry-Romberg syndrome was established. Investigations revealed immunologic and diffuse electrophysiological abnormalities (EEG and EMG).Conclusion
PKD associated with Parry-Romberg syndrome is very rare but does not appear to be fortuitous. It suggests a common mechanism via an underlying channelopathy or dysimmune disorder. 相似文献9.
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