Abstract：
:At the present time the so-called parallel or next generation sequencing (NGS) technique is rapidly expanding and developing; this process establishes a jump by several orders of magnitude in the length of the fragments sequenced and the speed with which this sequencing is carried out. NGS allows a whole human genome to be sequenced in the same amount of time and with the same economic cost required to sequence two or three large genes using the Sanger technique. Use of NGS allows us to go from examining specific genes selected by studying the phenotype to exploring whole genomes of groups of humans or other species. This is making it possible to know not only what an individual genome is like but also how the human genome changes from one person to another, how genomes differ from one group of humans to another, and even how the genome differs in a tumour with respect to the healthy genome of the host.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Jiménez-Escrig A,Gobernado I,Sánchez-Herranz Asubject
Has Abstractpub_date
2012-06-01 00:00:00pages
692-8issue
11eissn
0210-0010issn
1576-6578pii
rn2012040journal_volume
54pub_type
杂志文章,评审abstract：INTRODUCTION:Although the conventional risk factors of ischemic stroke are numerous and the physiopathological mechanisms are well known, we believe that there may be other less common factors that have received less attention by researchers but are nonetheless just as important. AIMS:The aim of this study was to dete...
journal_title：Revista de neurologia
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abstract：TITLE:Síndrome de depleción de ADN mitocondrial tipo 13: un caso con un inicio poco común. : ...
journal_title：Revista de neurologia
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abstract：INTRODUCTION:Epilepsy is a chronic disease with high prevalence. Its impact in the quality of life is influenced by factors like disease characteristics, comorbidities, stigma perception and treatment adherence. AIM:To assess the quality of life, the social stigma and the treatment adherence of patients with epilepsy ...
journal_title：Revista de neurologia
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更新日期：2018-10-16 00:00:00
abstract：TITLE:Encefalitis multifocal como manifestación neurológica de la infección por COVID-19. ...
journal_title：Revista de neurologia
pub_type： 信件
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更新日期：2020-11-01 00:00:00
abstract：INTRODUCTION:Surgical treatment for thoracolumbar union instability represents a challenge, due to the difficult access to this area of the spine, and to the extreme variability of morphological and biomechanical lesions observed. AIM:To describe the indications and clinical and neuroradiological results obtained with...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-01-01 00:00:00
abstract：:Two patients aged 52 and 31 respectively, treated for male infertility with gonadotrophins (LCG/LMG), showed marked improvement of their migraine crises associated with a typical aura which had been present since puberty. Changes in the number, motility and morphology of the spermatozoids were seen in the seminogram. ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1996-08-01 00:00:00
abstract：INTRODUCTION:Parkinson's disease (PD) is a common neurodegenerative disease which begins in adulthood. Its incidence in Mexico is estimated to be 40-50 cases per 100,000 inhabitants/year and is the fourth reason for medical care in the National Institute of Neurology and Neurosurgery. The protein alpha-synuclein, SNCA,...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2016-10-16 00:00:00
abstract：INTRODUCTION:Leprosy is an infectious disease caused by the bacteria Mycobacterium leprae. It is particularly prone to affect the skin and the nerve trunks and, in fact, both are compromised in most infected patients. It is transmitted by exposure to those with the disease and sometimes by reactivation. One uncommon po...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2016-09-16 00:00:00
abstract：INTRODUCTION:Cavernous angiomas account for 5-13% of all vascular malformations. In 75% of cases they are situated in the posterior fossa and up to 30% are associated with abnormal venous drainage. The main complication is haemorrhage; the presence of a neurological focus without radiological evidence of bleeding is ve...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-11-01 00:00:00
abstract：INTRODUCTION:Primary prevention by prophylactic vaccination against the major cause of cervical cancer, the carcinogenic human papillomavirus (HPV) types 16 and 18, is now available worldwide. Postlicensure adverse neurological effects have been described. The studies realized after the license are descriptive and limi...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2011-04-16 00:00:00
abstract：INTRODUCTION AND METHOD:Dementia with Lewy bodies is a generative brain disease of unknown origin, characterised clinically by progressive mental deterioration, with striking fluctuations and transitory episodes of confusion, hallucinations and psychotic symptoms (hallucinations and paranoid deliria), extrapyramidal si...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-10-16 00:00:00
abstract：INTRODUCTION:We describe a patient diagnosed as suffering from a skull base osteochondroma which affected the atlantooccipital joint and originated in the occipital condyle. It also displayed a growth toward the foramen magnum, which was resected using an extreme lateral transcondylar approach. CASE REPORT:Patient age...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-01-16 00:00:00
abstract：INTRODUCTION AND DEVELOPMENT:Impairments in language and communication are a defining feature of autism spectrum disorders. There is significant variability in linguistic abilities in autism spectrum disorders. They have difficulties with certain aspects of language such as semantics functions, syntax, prosody and phon...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2010-03-03 00:00:00
abstract：INTRODUCTION:Rett's syndrome (RS) is a disorder of neurological development which is the second commonest cause of mental retardation in girls. It is normally caused by de novo mutations of a gene on the X chromosome. This gene encodes for the protein joining the methyl CpG (MECP2). Mutations of this gene have been fou...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-02-01 00:00:00
abstract：INTRODUCTION AND DEVELOPMENT:Attention deficit hyperactivity disorder (ADHD) is one of the most frequently observed processes in our Neuropaediatric unit, and in recent years has become one of the leading reason for visits, together with headaches. On occasions, the diagnosis that should be made, in accordance with the...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-02-01 00:00:00
abstract：:Epilepsy is a neurological disorder that affects 1-2% of the population. Despite the available treatments (drug therapy, resective surgery, vagus nerve stimulation), there is a significant subgroup of patients that continues to have disabling seizures. The indications of deep brain stimulation are exponentially growin...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2011-07-16 00:00:00
abstract：:The association of unilateral ptosis and contralateral palpebral retraction named as "palpebral plus-minus syndrome" by Gaynard et al is an infrequent finding. Most cases described are of peripheral origin and secondary to muscle pathology or neuromuscular union. Cases secondary to central lesions are exceptional. We ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：AIM:To evaluate the efficiency of topiramate (TPM), an antiepileptic medication (AEM) which possesses multiple mechanisms of action and good pharmacokinetics, in the different types of childhood epilepsy and to make an appraisal of its value in migraines, bipolar disorder, eating disorders and neuropathic pain, accordi...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-09-01 00:00:00
abstract：INTRODUCTION:An arterial gas embolism is defined as the presence of air in the arterial circulation. This is an extremely rare cause of stroke that has been described in a multitude of clinical scenarios, generally related to iatrogenic processes. A clinical case is reported in which the arterial gas embolism occurred ...
journal_title：Revista de neurologia
pub_type：
doi：10.33588/rn.6903.2019178
更新日期：2019-08-01 00:00:00
abstract：INTRODUCTION:Behavior disorders are frequently seen in children attending a neuropaediatric clinic. The classical neuroleptic drugs are usually used for treatment. However response tends to be irregular with adverse effects at a cognitive level and extrapyramidal symptoms. PATIENTS AND METHODS:We started to use risper...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-08-01 00:00:00
abstract：INTRODUCTION:It has been previously shown that cluster headache (CH) can involve some extratrigeminal areas. Occipital pain has been recognized in several patients, even as the origin of the attacks. Nevertheless, the proposals of topographic variations of CH have been mainly focused on the location of pain in either s...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2011-04-01 00:00:00
abstract：AIMS:The study reviews language disorders in children. Taking their normal development as the starting point, the work puts forward a differential diagnosis based on the symptoms presented in the moment the patient visited the physician. It also suggests an approach for children with language disorders from the neuropa...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2013-09-06 00:00:00
abstract：INTRODUCTION:Posconcussional syndrome is characterized by a heterogeneous group of somatic, cognitive and psychosocial symptoms, which occur in patients with head trauma, generally of mild severity. It is the neuropsychiatric postraumatic disorder more prevalent in the field of forensic medicine. DEVELOPMENT:Classical...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2001-05-01 00:00:00
abstract：AIM:To determine if women with multiple sclerosis (MS) reported an increased risk of breast cancer compared with the general female population. PATIENTS AND METHODS:We conducted a systematic review and meta-analysis of observational cohort studies. We performed a search in PubMed/Medline of studies where standardized ...
journal_title：Revista de neurologia
pub_type： 杂志文章,meta分析,评审
doi：
更新日期：2010-11-01 00:00:00
abstract：INTRODUCTION:Tourette syndrome is a neurologic disorder characterized by involuntary vocal and motor tics. It affects around 1 to 2% of school-age children and is the most common movement disorder in paediatric age. Tics are involuntary or semivoluntary, sudden, brief, intermittent, repetitive movements (motor tics) or...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2009-01-23 00:00:00
abstract：INTRODUCTION:OnabotulinumtoxinA (OnabotA) is indicated for headache prophylaxis in patients with chronic migraine. However, there is some controversy about what is the minimum effective dose for treating chronic migraine patients. AIM:To determine the optimal dose of OnabotA for the prophylactic treatment of patients ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2014-03-10 00:00:00
abstract：INTRODUCTION:In this study the authors analyse, clinically, dysphemia (DP) and acquired stuttering (AS). AIMS. The aim of this study was to evaluate whether AS is a variant of DP or whether it is an entity that shares a common element: stuttered speech. PATIENTS AND METHODS:The authors studied 13 patients with AS and ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-05-16 00:00:00
abstract：INTRODUCTION:Atherosclerosis is a generalized vascular disorder which tends to be localized to specific arterial territories. At the bifurcation of the carotid artery there is a marked predisposition to form plaques of atheroma on the postero-external wall. This tendency is due to the kinematics of fluids and their par...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1997-12-01 00:00:00
abstract：INTRODUCTION:Idiopathic herniation of the spinal cord is a rarely diagnosed condition. It is important since this cause of paraparesis is potentially curable if diagnosis is made early. Our aim is to report a new case, review the relevant literature, describe the radiological findings and consider the etiopathogenic fi...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2001-01-01 00:00:00
abstract：OBJECTIVE:In this paper we review the main aetiologies of metabolic origin which cause epilepsy in children aged between 1 and 10 years. DEVELOPMENT:There are many aetiological causes of convulsive seizures. Seizures and epilepsies due to congenital errors of metabolism are a minority but should be known. Their identi...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-09-01 00:00:00
