Abstract：
:INTRODUCTION. Dystrophinopathies are X-linked genetic disorders caused by mutations in the DMD gene. Genetic tests are of utmost importance for management and genetic counseling of these diseases. However, the complexity of the DMD gene is a challenge for diagnosis. AIM. To describe recent advances in the diagnosis of dystrophinopathies, after 20 years since the firsts molecular assays for genetic screening for these diseases. DEVELOPMENT. Currently, a variety of strategies such as automated mutation detection, cell-based methods and high throughput haplotyping have been developed to facilitate diagnosis of dystrophinopathies, carrier detection, prenatal and preimplantation diagnosis. CONCLUSION. New technologies have improved early detection and optimal management of dystrophinopathies and have established the basis for future molecular medicine. The most significant advances in dystrophinopathy diagnosis are reviewed herein.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
López-Hernández LB,Ayala-Madrigal ML,van Heusden D,Estrada-Mena FJ,Canto P,Sandoval-Ramírez L,Gómez-Díaz B,Coral-Vázquez RMsubject
Has Abstractpub_date
2011-02-16 00:00:00pages
239-49issue
4eissn
0210-0010issn
1576-6578pii
rn2010502journal_volume
52pub_type
杂志文章,评审abstract：AIM:To analyze the importance of the neurotransmitter glutamate in the pathogenesis of Alzheimer's disease (AD). DEVELOPMENT:Elements of the physiological glutamatergic neurotransmission are reviewed, such as the neuronal types that utilize it, glutamatergic receptors and their characteristics, and glutamate transport...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-04-01 00:00:00
abstract：INTRODUCTION:Cerebrovascular accidents (CVA) are the third most common cause of death and are the main cause of permanent disability in the western world, where they also rank first as regards the loss of years of disability-adapted independent life. Ischaemic CVAs tend to present irreversible sequelae, which reduces t...
journal_title：Revista de neurologia
pub_type： 杂志文章,随机对照试验
doi：
更新日期：2007-11-01 00:00:00
abstract：AIM:To report a case of sub-acute encephalopathy with all the extension study negative and with response to steroid therapy. CASE REPORT:The study involves a 22-year-old female with no relevant past history who presented symptoms of sub-acute encephalopathy consisting in behavioural disorders, generalised seizures and...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2009-10-01 00:00:00
abstract：INTRODUCTION:Advances in neuroimaging in the last decade have allowed a number of new findings about attention deficit hyperactivity disorder (ADHD) to be obtained. Quickly developing technology, together with the progress being made in genetics and neurochemical research, suggests a dysfunction of the fronto striatal ...
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:Temporal orientation is a component of most screening tests for diagnosing cognitive impairment. Correct temporal orientation involves activating both semantic information (concepts of the calendar date) and episodic information (remembering the current date). AIMS:The aim of this study was to assess the ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2011-03-16 00:00:00
abstract：INTRODUCTION:The research group from Willmes and colleagues is one of the most advanced research groups in cognitive neuroscience. The use and nature of the numeric magnitude representation constitutes one of the study objects of the mentioned research group. This mental representation provokes a great controversy amon...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2008-03-01 00:00:00
abstract：INTRODUCTION:The theory of memory consolidation, based on the work published by Georg Elias Muller and Alfons Pilzecker over a century ago, continues to guide research into the neurobiology of memory, either directly or indirectly. In their classic monographic work, they concluded that fixing memory requires the passag...
journal_title：Revista de neurologia
pub_type： 历史文章,杂志文章,评审
doi：
更新日期：2007-09-01 00:00:00
abstract：INTRODUCTION:This paper review current literature about neurocysticercosis with emphasis on recent advances on diagnosis and therapy. DEVELOPMENT:Cysticercosis is the most common parasitic disease of the nervous system. The disease occurs when humans become the intermediate host in the life cycle of Taenia solium by i...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1999-09-01 00:00:00
abstract：INTRODUCTION:The retina is a neuronal membrane that covers the posterior part of the eye chamber and is formed by several layers. The retinal function can be synthesize as the light translation into nervous impulses in the optic nerve. MATERIAL AND METHODS:The ERG is the expression of the changes of the electrical pot...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1998-03-01 00:00:00
abstract：INTRODUCTION:Only the organic and cryptogenic forms of frontal lobe epilepsy have been admitted by the ILAE, but according to several reports in the literature, it probably exists also an idiopathic form, at present not well recognized. OBJECTIVE:To study the differences between the organic and the cryptogenic forms o...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1998-06-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-07-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-09-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2004-12-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：10.33588/rn.7002.2019213
更新日期：2020-01-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-06-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-08-16 00:00:00
abstract：INTRODUCTION AND OBJECTIVES:Little data has been published in Spain on motor neurone disease or amyotrophic lateral sclerosis. This study reports data on incidence and mortality in Cantabria and incidence in Segovia. It discusses and compares them emphasizing certain characteristic features of the epidemiology of the d...
journal_title：Revista de neurologia
pub_type：
doi：
更新日期：1999-11-01 00:00:00
abstract：:The diagnostic criteria for the attention deficit/hyperactivity disorder (ADHD) were defined by the American Psychiatric Association in the Diagnostic and Statistical Manual of Mental Disorders, fourth version. ADHD is a neuro-psychiatric disorder associated with impairments in everyday life and behavioral dysregulati...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2012-03-16 00:00:00
abstract：INTRODUCTION:Semi-structured questionnaires, based on clinical criteria are used in the diagnosis of headache, but none has been used to study the two commonest types of chronic headache. The first step, before clinical application, is to carry out a study of the questionnaire's validity and predictive value. OBJECTIV...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-03-01 00:00:00
abstract：INTRODUCTION:White matter lesions are more prevalent in migraine patients than in the general population, especially those with a high frequency of attacks. A patent foramen ovale has been described as a possible link between migraine and white matter lesions. AIM:To determine the existence of a possible relationship ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：10.33588/rn.7010.2019435
更新日期：2020-05-16 00:00:00
abstract：INTRODUCTION:Benign idiopathic external hydrocephalus (BIEH) is an age-dependent disorder that is self-limiting in time and has an uncertain aetiology. PATIENTS AND METHODS:A retrospective study was conducted involving 39 patients (16 girls and 23 boys) with BIEH. The following data were analysed for each patient: age...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-05-01 00:00:00
abstract：INTRODUCTION AND DEVELOPMENT:The history of prion diseases is one of the most exciting chapters of the story of medicine in the twentieth century. It began in the nineteen twenties when Creutzfeldt (in one patient) and Jakob (in five patients) described a clinically polymorphic cerebral syndrome with a subacute or chro...
journal_title：Revista de neurologia
pub_type： 历史文章,杂志文章
doi：
更新日期：2000-07-16 00:00:00
abstract：INTRODUCTION:According to the 1981 International League Against Epilepsy classification, absence seizures are the paradigm of idiopathic generalised seizures of childhood. Although absences are mainly of an idiopathic origin, there are also symptomatic absences, which account for 10% of all cases of absences. It is tho...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2017-09-16 00:00:00
abstract：INTRODUCTION:Opsoclonus myoclonus is a rare neurological syndrome affecting children and adults, and which is characterised by a sudden onset of chaotic eye movements and myoclonias. In children it generally appears before the age of three as a parainfectious or paraneoplasic process; the type of tumour most frequently...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-08-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2011-10-16 00:00:00
abstract：INTRODUCTION:Stroke is a leading cause of mortality and disability. Policosanol has been effective in brain ischemia models. The aim of this study is to investigate whether policosanol, added to aspirin therapy within 30 days of stroke onset, is better than placebo + aspirine for the long-term recovery of non-cardioemb...
journal_title：Revista de neurologia
pub_type： 杂志文章,随机对照试验
doi：
更新日期：2017-02-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：10.33588/rn.7102.2019207
更新日期：2020-07-16 00:00:00
abstract：INTRODUCTION:The term idiopathic T-CD4 lymphocytopenia is used to describe a new syndrome, defined as reduced T-CD4 lymphocytes in persons with no evidence of HIV infection or other causes which would explain the immunosuppression (secondary to neoplasties, immunosuppressive treatment, hereditary immunodeficiencies, in...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-02-16 00:00:00
abstract：INTRODUCTION:Infantil progressive polydystrophy was described by Alpers in a child with psychomotor retardation, crises which were resistant to treatment and diffuse loss of cortical neurons. OBJECTIVE:The aim of this study was to review the neurophysiological aspects of Alpers syndrome and their clinical correlation....
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-01-01 00:00:00
abstract：INTRODUCTION:Infection of the Central Nervous System by free living amebas is an unusual event, 344 cases have been reported to date. The disease becomes evident in two different clinical fashions: Primary Amebic Meningoencephalitis (PAM) caused by Naegleria fowleri and Granulomatous Amebic Encephalitis (GAE) induced b...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-06-01 00:00:00
