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31.
Xiomara Q. Rosales MD Vinod Malik PhD Amita Sneh PhD Lei Chen MS Sarah Lewis HT ASCP Janaiah Kota PhD Julie M. Gastier‐Foster PhD Caroline Astbury PhD Rob Pyatt PhD Shalini Reshmi PhD Louise R. Rodino‐Klapac PhD K. Reed Clark PhD Jerry R. Mendell MD Zarife Sahenk MD PhD 《Muscle & nerve》2013,47(5):731-739
Introduction: Recent in vitro studies suggest that CAPN3 deficiency leads initially to accelerated myofiber formation followed by depletion of satellite cells (SC). In normal muscle, up‐regulation of miR‐1 and miR‐206 facilitates transition from proliferating SCs to differentiating myogenic progenitors. Methods: We examined the histopathological stages, Pax7 SC content, and muscle‐specific microRNA expression in biopsy specimens from well‐characterized LGMD 2A patients to gain insight into disease pathogenesis. Results: Three distinct stages of pathological changes were identified that represented the continuum of the dystrophic process from prominent inflammation with necrosis and regeneration to prominent fibrosis, which correlated with age and disease duration. Pax7‐positive SCs were highest in the fibrotic group and correlated with down‐regulation of miR‐1, miR‐133a, and miR‐206. Conclusions: These observations, and other published reports, are consistent with microRNA dysregulation leading to inability of Pax7‐positive SCs to transit from proliferation to differentiation. This results in impaired regeneration and fibrosis. Muscle Nerve 47: 731–739, 2013 相似文献
32.
Zhe Zhao Jing Hu Yusuke Sakiyama Yuji Okamoto Itsuro Higuchi Na Li Hongrui Shen Hiroshi Takashima 《Clinical neurology and neurosurgery》2013
Objective
Dysferlinopathies belong to heterogeneous group of autosomal recessive muscular disorders caused by mutations in the gene encoding dysferlin. The classifications of the dysferlinopathies mainly include limb-girdle muscular dystrophy 2B (LGMD2B) with predominantly proximal weakness, Miyoshi myopathy (MM) with calf muscle weakness and atrophy, and distal myopathy with anterior tibial onset (DMAT) with tibialis muscle atrophy. We describe the genetic character of dysferlinopathies in a group of Chinese patients.Methods
DYSF mutations screening were done after muscle biopsy and immunohistochemical staining.Results
Eight patients showed an absence or drastic decrease of dysferlin expression in biopsied muscle. We identified 6 different mutations, including one nonsense mutation, two insertion mutation, two deletion mutations and one splice site mutation. Five of them were novel mutations.Conclusion
We described 8 Chinese patients with dysferlinopathy (four had a distal phenotype of MM; one had a phenotype of DMAT and three presented with LGMD2B). It is the first report of genetic confirmed DMAT in China. Mutations c.3112C>T and c.1045dup, may be recurrent mutations in China. 相似文献33.
Calvo F Teijeira S Fernandez JM Teijeiro A Fernandez-Hojas R Fernandez-Lopez XA Martin E Navarro C 《Neuromuscular disorders : NMD》2000,10(8):560-566
Thorough non-invasive cardiovascular studies were conducted in a series of ten gamma-sarcoglycanopathy Gypsy patients with the founder C283Y mutation in 13q12. Results were compared with those obtained in an age-matched group of normal boys and girls. The studies included electrocardiographic and echocardiographic evaluations using pulsed wave Doppler tissue imaging to assess regional diastolic function and myocardial velocities at various levels. This study confirms the significant electrocardiographic abnormalities described in previous studies. Furthermore, measurement of myocardial velocity at different levels demonstrated an abnormal relaxation pattern in the tricuspid annulus in four of the oldest patients, which strongly suggests intrinsic myocardial involvement of the right ventricle. To our knowledge, these specific studies have not been previously performed in a clinically and genetically homogeneous group of gamma-sarcoglycanopathy patients and suggest primary myocardial involvement probably due to γ-sarcoglycan deficiency in cardiac muscle fibres. Our results could be of interest in the follow-up of these patients and the prevention and treatment of late cardiological complications. 相似文献
34.
Charniot JC Pascal C Bouchier C Sébillon P Salama J Duboscq-Bidot L Peuchmaurd M Desnos M Artigou JY Komajda M 《Human mutation》2003,21(5):473-481
Heritable dilated cardiomyopathy is a genetically highly heterogeneous disease. To date 17 different chromosomal loci have been described for autosomal dominant forms of dilated cardiomyopathy with or without additional clinical manifestations. Among the 10 mutated genes associated with dilated cardiomyopathy, the lamin A/C (LMNA) gene has been reported in forms associated with conduction-system disease with or without skeletal muscle myopathy. For the first time, we report here a French family affected with a new phenotype composed of an autosomal dominant severe dilated cardiomyopathy with conduction defects or atrial/ventricular arrhythmias, and a specific quadriceps muscle myopathy. In all previously reported cases with both cardiac and neuromuscular involvement, neuromuscular disorders preceded cardiac abnormalities. The screening of the coding sequence of the LMNA gene on all family members was performed and we identified a missense mutation (R377H) in the lamin A/C gene that cosegregated with the disease in the family. Cell transfection experiments showed that the R377H mutation leads to mislocalization of both lamin and emerin. These results were obtained in both muscular (C2C12) and non-muscular cells (COS-7). This new phenotype points out the wide spectrum of neuromuscular and cardiac manifestations associated with lamin A/C mutations, with the functional consequence of this mutation seemingly associated with a disorganization of the lamina. 相似文献
35.
Mutations in the LMNA gene encoding lamins A and C by alternative splicing have been found to cause at least four different kinds of genetic disorders:
autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2; MIM 181350); limb-girdle muscular dystrophy type 1B (LGMD1B;
MIM 159001); dilated cardiomyopathy type 1A (CMD1A; MIM 115200); and familial partial lipodystrophy (FPLD; MIM 151660). Recently,
we have studied two Korean patients with atrioventricular conduction defects. They had variable extents of muscular dystrophy;
one patient was diagnosed with EDMD2 and the other with LGMD1B. We performed a mutation analysis of the LMNA gene by direct sequencing and found two different missense mutations: R249Q and R377L, in the EDMD2 and LGMD1B patient, respectively.
The R249Q mutation is located within the central rod domain of the LMNA gene, and has been described in at least five unrelated sporadic EDMD2 patients. On the other hand, the R377L mutation, also
located within the rod domain, is a novel mutation, although a histidine substitution instead of leucine (R377H) has been
reported previously in an LGMD1B patient. To our knowledge, this is the first report of LMNA gene mutations in Korean patients with EDMD2 and LGMD1B.
Received: November 19, 2001 / Accepted: February 8, 2002 相似文献
36.
Walter MC Braun C Vorgerd M Poppe M Thirion C Schmidt C Schreiber H Knirsch UI Brummer D Müller-Felber W Pongratz D Müller-Höcker J Huebner A Lochmüller H 《Journal of neurology》2003,250(12):1431-1438
Abstract.
Mutations in the human dysferlin gene (DYSF) cause autosomal recessive
muscular dystrophies characterized by degeneration and weakness
of proximal and/or distal muscles: limb girdle muscular
dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). Recently,
an interaction between caveolin-3 and dysferlin in normal and
dystrophic muscle (primary caveolin-3 deficiency; LGMD1C) was
shown. In this study, clinical,morphological and genetic
analysis was carried out in four independent LGMD2B/MM patients.
All patients presented with an adult-onset, slowly progressive
muscular dystrophy with variable involvement of proximal and
distal muscles. We found complete lack of dysferlin in the four
LGMD2B/MM patients. Secondary reduction of caveolin-3 was
detected in three out of the four patients. Regular caveolae
were detected along the basal lamina in two patients by electron
microscopy. We provide further evidence that dysferlin and
caveolin-3 interact in human skeletal muscle. It remains to be
elucidated whether the loss of this interaction contributes to
pathogenic events in muscular dystrophy.M. C. Walter and C. Braun contributed
equally. 相似文献
37.
38.
Eugnie Dionnet Aurlia Defour Nathalie Da Silva Alexandra Salvi Nicolas Lvy Martin Krahn Marc Bartoli Francesca Puppo Svetlana Gorokhova 《Human mutation》2020,41(10):1797-1810
Improving the accuracy of variant interpretation during diagnostic sequencing is a major goal for genomic medicine. To explore an often‐overlooked splicing effect of missense variants, we developed the functional assay (“minigene”) for the majority of exons of CAPN3, the gene responsible for limb girdle muscular dystrophy. By systematically screening 21 missense variants distributed along the gene, we found that eight clinically relevant missense variants located at a certain distance from the exon–intron borders (deep exonic missense variants) disrupted normal splicing of CAPN3 exons. Several recent machine learning‐based computational tools failed to predict splicing impact for the majority of these deep exonic missense variants, highlighting the importance of including variants of this type in the training sets during the future algorithm development. Overall, 24 variants in CAPN3 gene were explored, leading to the change in the American College of Medical Genetics and Genomics classification of seven of them when results of the “minigene” functional assay were considered. Our findings reveal previously unknown splicing impact of several clinically important variants in CAPN3 and draw attention to the existence of deep exonic variants with a disruptive effect on gene splicing that could be overlooked by the current approaches in clinical genetics. 相似文献
39.
《Disability and rehabilitation》2013,35(22):2083-2091
AbstractPurpose: To describe young adults’ experiences of living with recessive limb-girdle muscular dystrophy (LGMD2) from a salutogenic orientation. Methods: A qualitative explorative interview study, including 14 participants aged 20–30 years, was performed focusing on comprehensibility, manageability and meaningfulness in daily life. Content analysis was used for data analysis. Result: Living with LGMD2 not only implies learning to live with the disease and the variations between good and bad periods but also means trying to make sense of a progressive disease that brings uncertainty about future health, by striving to make the best of the situation. Disease progression involves practical and mental struggle, trying to maintain control over one’s life despite vanished physical functions that require continual adjustments to the body. Restrictions in a double sense were described, not only due to the disease but also due to poor comprehension of the disease in society. Lack of knowledge about LGMD2 among professionals often results in having to fight for the support needed. Conclusion: In order to manage daily life, it is important to be seen and understood as an individual in contacts with professionals and in society in general, to have informal social support and meaningful activities as well as access to personal assistance if necessary.
- Implications for Rehabilitation
Recessive limb-girdle muscular dystrophy (LGMD2) is a group of progressive disorders, which manifest in physical and psychological consequences for the individual.
According to the salutogenic orientation, people need to find life comprehensible, manageable and meaningful, i.e. to achieve a sense of coherence (SOC), but living with LGMD2 may recurrently challenge the individual’s SOC.
Through the holistic view of the individual’s situation that the salutogenic orientation provides, professionals may support the individual to strengthen SOC and thereby facilitate the movement towards health.
40.
Luo SS Xi JY Lu JH Zhao CB Zhu WH Lin J Wang Y Ren HM Yin B Andoni UJ 《Muscle & nerve》2011,44(3):402-409
Background: Calpainopathy is comprised of a group of myopathies caused by deficiency in calcium‐activated, neutral protease (calpain‐3). In this study we identify calpainopathy in a cohort of Chinese patients with unclassified myopathy and analyze its clinical and pathological features. Methods: Sixty‐six muscle biopsies were selected for combined Western blotting of dysferlin and calpain‐3 after immunohistochemical staining. Clinical and pathological parameters of 15 confirmed calpainopathy cases were determined. Results: The diagnosis of calpainopathy in 15 Chinese patients was confirmed by Western blot analysis. Fourteen subjects had progressive proximal muscle weakness; 1 presented with bilateral distal muscle atrophy of the lower extremities. Scapular winging was observed in 12 patients (80%), and joint contractures were found in 10 others (66.7%). Histopathological studies showed a high prevalence of lobulated fibers (66.7%). Conclusions: Chinese patients with calpainopathy share some common clinical and pathological features with the reported characteristics of non‐Chinese patients. Muscle Nerve, 2011 相似文献