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91.
《European journal of paediatric neurology》2019,23(3):448-455
Mutations in ATP1A3 lead to different phenotypes having in common acute neurological decompensation episodes triggered by a specific circumstance and followed by sequelae. Alongside Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, Sensorineural hearing loss syndrome (CAPOS), a new Relapsing Encephalopathy with Cerebellar Ataxia (RECA) phenotype was published in 2015. We describe herein eight new pediatric cases. Most of them had no specific history when the first neurological decompensation episode occurred, before the age of 5 years, triggered by fever with severe paralytic hypotonia followed by ataxia with or without abnormal movements. Neurological sequelae with ataxia as the predominant symptom were present after the first episode in three cases and after at least one subsequent relapse in five cases. Five of the eight cases had a familial involvement with one of the two parents affected. The phenotype–genotype correlation is unequivocal with the causal substitution always located at position 756. The pathophysiology of the dysfunctions of the mutated ATPase pump, triggered by fever is unknown. Severe recurrent neurological decompensation episodes triggered by fever, without any metabolic cause, should lead to the sequencing of ATP1A3. 相似文献
92.
93.
John M. Ringman Yuchuan Qiao Alexander Garbin Beth E. Fisher Brent Fogel Kecia Watari Knoell 《Neurocase》2020,26(5):299-304
ABSTRACT We report a patient with autism-like deficits in emotional connectedness, executive dysfunction, and ataxia beginning at age 39. He had compound heterozygous variants in SPG7 (A510V and 1552+1 G>T substitutions), mutation of which is classically associated with spastic paraparesis. Diffusion MRI demonstrated abnormalities in the cerebellar outflow tracts. Transcranial magnetic stimulation showed a prolonged cortical silent period representing exaggerated cortical inhibition, as previously described with pure cerebellar degeneration. The acquired cerebellar cognitive affective syndrome in association with specific anatomic and neurophysiological abnormalities in the cerebellum expand the spectrum of SPG7-related neurodegeneration and support a role for cerebellar output in socio-emotional behavior. 相似文献
94.
M. Arias 《Neurología (Barcelona, Spain)》2019,34(4):248-258
Introduction
Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system. These diseases are accompanied by a wide range of systemic manifestations (cardiopathies, endocrinopathies, skeletal deformities, and skin abnormalities).Development
This study reviews current knowledge of the most common forms of autosomal recessive spinocerebellar ataxia in order to provide tips that may facilitate diagnosis.Conclusions
A thorough assessment of clinical phenotype (pure cerebellar or cerebellar-plus syndrome, with or without systemic manifestations), laboratory tests (vitamin E, acanthocytosis, albumin, cholesterol, phytanic acid, lactic acid, creatine kinase, cholestanol, coenzyme Q10, alpha-fetoprotein, copper, ceruloplasmin, chitotriosidase), nerve conduction studies (presence and type of neuropathy), and an magnetic resonance imaging study (presence of cerebellar atrophy, presence and location of signal alterations) may help establish a suspected diagnosis, which should be confirmed by detecting the underlying genetic mutation. A positive genetic test result is necessary to determine prognosis and provide adequate genetic counselling, and will also permit appropriate treatment of some entities (abetalipoproteinaemia, ataxia with vitamin E deficiency, Refsum disease, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, Wilson disease). Without a genetic diagnosis, conducting basic research and therapeutic trials will not be possible. 相似文献95.
K. Sahashi A. Takahashi T. Ibi S. Gotoh T. Matsui 《Journal of molecular medicine (Berlin, Germany)》1985,63(7):319-324
Summary An account is given of an unusual patient with acute sensory neuropathy, leading within a few weeks to almost generalized sensory loss. Generalized sensory deficits were involved in the face, tongue, and palate. He had a drug allergy from chemotherapy during an early stage of illness. An albuminocytological dissociation of the cerebrospinal fluid was noted in a few months. A sural nerve biopsy after 2 months showed a marked reduction of fibers, and extensive invasion of phagocytes throughout the endoneurium. This patient recovered poorly with profound sensory ataxia of the limbs and tongue. A possible explanation for the clinico-pathological findings may be that acute idiopathic polyradiculoneuritis (Guillain-Barré syndrome) and toxic neuropathy exert an etiological role in the extramedullary sensory system.Abbreviation GBS
Guillain-Barré syndrome
This study was supported in part by Grant No. 83-16 from National Center for Nervous, Mental, and Muscular Disorders (NCNMMD) of The Ministry of Health and Welfare, Japan 相似文献
96.
Arunangshu Ghoshal Naveen Salins Anuja Damani Jayita Deodhar M. A. Muckaden 《Journal of pain & palliative care pharmacotherapy》2016,30(1):44-48
Malignant bowel obstruction (MBO) is commonly seen in patients with advanced abdominal cancers. The incidence of pediatric MBO in a patient with Burkitt's lymphoma and ataxia telangiectasia is rare, with no published case reports till now. Conservative management of inoperable MBO results in relief of symptoms and improves quality of life. An 11-year-old boy with Burkitt's lymphoma and ataxia telangiectasia was referred to pediatric palliative care with MBO. The objective of this report is to demonstrate conservative management of pediatric MBO using continuous ambulatory drug delivery system. The patient was initiated on continuous ambulatory drug delivery (CADD) system for symptom relief. MBO was reversed with conservative management and the child was discharged on self-collapsible portable elastomeric continuous infusion pump under the supervision of a local family physician. The child remained comfortable at home for 4 weeks until his death. His parents were satisfied with the child's symptom control, quality of life, and were able to care for the child at home. In a resource-limited setting, managing patients at home using elastomeric continuous infusion pumps instead of expensive automated CADD is a practical pharmacoeconomic approach. 相似文献
97.
Aakash Shetty Ziv Gan-Or Setareh Ashtiani Jennifer A. Ruskey Bart van de Warrenburg Tessa Wassenberg Erik-Jan Kamsteeg Guy A. Rouleau Oksana Suchowersky 《European journal of medical genetics》2019,62(12):103605
Aims and objectiveTo characterize the phenotype of CAPN1 (SPG76) mutations in patients diagnosed with hereditary spastic paraplegia (HSP).BackgroundThe CAPN1 gene, located on chromosome 11q13.1, is a protein-coding gene involved in neuronal plasticity, migration, microtubular regulation and cerebellar development. Several families with CAPN1 mutations have recently been reported to present with autosomal recessive (AR) HSP and/or ataxia.MethodPatients with HSP were identified through neurological and genetic clinics with detailed phenotyping. Whole exome sequencing revealed novel pathogenic CAPN1 mutations in four patients from 3 families.ResultsAffected families were of Turkish, Japanese, and Punjabi descent and all were consanguineous. Onset of spastic paraplegia in the four patients was between 20 and 37 years. Two also had mild ataxia. Three different novel, homozygous mutations in CAPN1 were found: c.2118+1G > T, c.397C > T, c.843+1G > C. The patient with the earliest onset also manifested profound muscle weakness, likely related to a second homozygous mutation in DYSF (dysferlinopathy).ConclusionsThe phenotype of AR CAPN1 mutations appears to be spastic paraplegia with or without ataxia; onset is most commonly in adulthood. Eye movement abnormalities, skeletal defects, peripheral neuropathy and amyotrophy can sometimes be seen. Occasionally, patients can present with ataxia, illustrating the genotypic and phenotypic overlap between HSP and spastic ataxia. With the advent of exome sequencing, mutations in more than one gene can be identified, which may contribute to the phenotypic variation, even within a family. 相似文献
98.
M. Hsieh S.-Y. Li C.-J. Tsai Y.-Y. Chen C.-S. Liu C.-Y. Chan L.-S. Ro D.-F. Chen S.-S. Chen C. Li 《Acta neurologica Scandinavica》1999,100(3):189-194
OBJECTIVES: The autosomal dominant cerebellar ataxias (ADCAs) are a group of genetically diverse neurological conditions linked by progressive deterioration in balance and coordination. Spinocerebellar Ataxia Type 2 (SCA2) is one of the ADCAs and also belongs to a special group caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. We aimed to investigate the frequency of SCA2 mutation in the ataxia patients referred to the clinic. MATERIALS AND METHODS: We screened 58 families with inherent cerebellar ataxia and 57 normal individuals by the use of radioactive genomic polymerase chain reaction (PCR) method. A simple non-radioactive PCR for rapid detection of the expanded SCA2 alleles via agarose gel electrophoresis was also employed. RESULTS: Eight SCA2 affected patients and 1 at-risk individual in 5 unrelated SCA2 families were identified. The CAG repeats of normal alleles in the sample studied range in size from 16 to 30 repeat units, while those of SCA2 chromosomes are expanded to 34 to 49 repeat units. Our results also showed that unlike SCA 1 and SCA3/MJD, the size distribution of the normal alleles showed few polymorphisms, with the 22 repeat allele accounting for 90.1%. Homozygosity in normal individuals was 80.2%. No overlap in ataxin-2 allele size between normal and expanded chromosomes was observed. CONCLUSION: This is the first report of the SCA2 gene distributions in the population of Taiwan. The SCA2 mutation accounts for 8.6% of ADCA type I families referred to us, intermediate between SCA1(1.7%) and SCA3/MJD (24%) of the ADCA type I families in our collection. 相似文献
99.
S. Hassin-Baer Anat Bar-Shira Shlomit Gilad Yaron Galanty Rami Khosravi Alexander Lossos Nir Giladi Rafael Weitz Bruria Ben-Zeev Yochanan Goldhammer Yosef Shiloh 《Journal of neurology》1999,246(8):716-719
Ataxia-telangiectasia (AT) is an autosomal recessive multisystent disorder presenting in childhood with progressive cerebellar
ataxia, oculocutaneous telangiectasia, immune deficiency, radiosensitivity, and cancer predisposition. The gene for AT, designated
ATM (AT, mutated) encodes a protein with a carboxy-terminal phosphoinositide-3 kinase domain which is involved in cell cycle
checkpoints and other responses to genotoxic stress. Most of the patients with the classical AT phenotype are homozygous or
compound heterozygous for severe mutations causing truncation or destabilization of the ATM protein. Patients with a milder forms of disease, called AT variants, have been found to be either homozygous for milder
mutations or compound heterozygotes for null alleles and mild mutations. In order to define the clinical phenotype of patients
homozygous (or compound heterozygotes) for other, milder mutations, we decided to search for ATM mutations in patients with either sporadic or familial idiopathic ataxia. Thirty-four patients with idiopathic cerebellar
ataxia, aged 3–77 years, were screened for mutations in the ATM coding region. There were 12 familial cases. None of the patients had abnormal immunoglobulin or α-fetoprotein levels, and
none had mutations in the ATM coding region. In this heterogeneous group of patients with cerebellar ataxia we found no mutations in the ATM gene. We conclude that mutations in the ATM gene are probably not a common cause for cerebellar ataxia other than AT.
Received: 29 October 1998 Received in revised form: 5 February 1999 Accepted: 7 February 1999 相似文献
100.
E. Hainque A. Blancher V. Mesnage S. Rivaud-Pechoux A. Bertrand S. Dupont V. Navarro E. Roze I. Gourfinkel-An E. Apartis 《Revue neurologique》2018,174(1-2):56-65