[GNAO1: a new gene to consider on early-onset childhood dystonia].

Abstract:

TITLE:GNAO1: un nuevo gen a considerar en la distonia temprana de la infancia. :

journal_name

Rev Neurol

journal_title

Revista de neurologia

authors

Marecos C,Duarte S,Alonso I,Calado E,Moreira A

subject

Has Abstract

pub_date

2018-05-01 00:00:00

pages

321-322

issue

9

eissn

0210-0010

issn

1576-6578

pii

rn2018007

journal_volume

66

pub_type

信件,评审
  • [Chlamydia pneumoniae and arteriosclerosis].

    abstract:INTRODUCTION:The relationship between Chlamydia pneumoniae and atherosclerosis has been assessed in several studies. Development and conclusions. Their results suggest a possible role of Chlamydia pneumoniae in the origin and development of the disease, while the actual link between them are still unknown. However, the...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Lapetra J,Santos JM,Gil-Peralta A,Mayoral E,González-Marcos JR

    更新日期:1999-02-01 00:00:00

  • [Workshop on electroretinography and visual evoked potentials].

    abstract::Studies of vision using electrophysiological techniques are tests which record functional alterations in very early phases of a disease. Full field flash ERG evaluates the integrity of the cones, rods and bipolar cells. It is obtained by photopsic stimulation with Ganzfeld and contact lens corneal electrodes or, alter...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Ucles Moreno P

    更新日期:2003-02-15 00:00:00

  • [Treatment of encephalopathy by means of valproic acid with carglumic acid: two case reports and a review of the literature].

    abstract:INTRODUCTION:Valproic acid (VPA) is a drug mainly used to treat epilepsy. Hyperammonaemic encephalopathy due to VPA is a rare but serious complication. The mechanism by which VPA influences the increase in ammonia consists in blocking the urea cycle, thereby inhibiting N-acetylglutamate synthase and diminishing acetyl ...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Nava-Mateos JJ,Roiz-Rey P,Diaz Alvarez-Mediavilla J,Cebrian-Novella D,Gomez-Del Olmo V,Ceberio-Hualde L

    更新日期:2017-11-01 00:00:00

  • [Increase in the incidence of occipital plagiocephaly].

    abstract:INTRODUCTION:The diagnosis and treatment of posterior plagiocephaly is one of the most controversial aspects of craniofacial surgery. PATIENTS AND METHODS:The purpose of this study is to describe a recent increase in the incidence of occipital plagiocephaly without synostosis in our hospital during the last 6 months. ...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: González de Dios J,Moya M,Jiménez L,Alcalá-Santaella R,Carratalà F

    更新日期:1998-11-01 00:00:00

  • [Upward and downward gaze palsy with a unilateral mesencephalic hemorrhage].

    abstract:INTRODUCTION:Acute vascular lesions limited to the midbrain can yield varied disturbances of eye movements. They are more often infarcts than hemorrhages. CLINICAL CASE:We present the case of a 49 year old, non-hypertensive man who presented with sudden onset of bilateral up and down gaze palsy. CT defined a unilatera...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Rodríguez-Gómez J,Colás J,Aragón A,Albo MI,Casado F

    更新日期:2000-02-16 00:00:00

  • Lacunar stroke associated headache is not related to intracranial large vessel disease.

    abstract::It was recently suggested that lacunar strokes presenting with headache may be due to large intracranial artery disease. From the stroke database of the Neurology department, Hospital Sta Maria, we retrieved all lacunar strokes who had investigations of the intracranial circulation. Forty seven of the 208 lacunar stro...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Ferro JM,Salgado AV,Oliveira V

    更新日期:1995-07-01 00:00:00

  • [Whole genome sequencing: a qualitative leap forward in genetic studies].

    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 ...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Jiménez-Escrig A,Gobernado I,Sánchez-Herranz A

    更新日期:2012-06-01 00:00:00

  • [Functional disorders of FOF1-ATPase in submitochondrial particles obtained from platelets of patients with a diagnosis of probable Alzheimer's disease].

    abstract:INTRODUCTION:Recent studies indicate that decreased energy generation by mitochondria is a feature that is common across neurodegenerative diseases. PATIENTS AND METHODS:In order to obtain direct evidence that mitochondrial functioning is altered, we measured the hydrolytic activity of F0F1-ATPase and its capacity to ...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Martínez-Cano E,Ortiz-Genaro G,Pacheco-Moisés F,Macías-Islas MA,Sánchez-Nieto S,Rosales-Corral SA

    更新日期:2005-01-16 00:00:00

  • [Multisegmental spondylotic cervical myelopathy treated by longitudinal medial corporectomy without fusion].

    abstract:INTRODUCTION:The treatment of cervical spondylosis may be medical, surgical or both. Surgical treatment is indicated mainly in patients with untreatable pain, progressive neurological deficit and proven compression of the nerve roots and spinal cord. Corporectomy with a graft and fusion is one of the most widely used t...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Coloma-Valverde G,Vargas-Rivadeneira E

    更新日期:2002-02-01 00:00:00

  • [Genotype-phenotype correlation in myotonic dystrophy and prediction of clinical seriousness].

    abstract:INTRODUCTION:Since description of the expansion of the number of CTG trinucleotides on the long arm of chromosome 19 in the 19 q 13.2-13.3 interval as being responsible for myotonic dystrophy (DM), many studies have established a direct relationship between the size of the expansion and the severity of the manifestatio...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: García-Gómez T,Maestre J,Garrido ML,Vilches R,Fernández MD,Mínguez A,Serrano P

    更新日期:1999-09-16 00:00:00

  • [Diabetes mellitus as a risk factor for dementia in the Mexican elder population].

    abstract:INTRODUCTION:Diabetes and dementia are growing problems throughout the world and especially in developing countries. AIM:To determine the risk of developing dementia in subjects with type 2 diabetes mellitus. PATIENTS AND METHODS:Diabetic elders free of dementia from the Mexican Health and Aging study, a prospective ...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Mejía-Arango S,Zúñiga-Gil C

    更新日期:2011-10-01 00:00:00

  • [The amygdala and its relation to autism, behavioural disorders and other neurodevelopmental disorders].

    abstract::The amygdala is related with the recognition of the emotional meaning of stimuli, long-term memory, the orientation of social stimuli and the perception of gaze orientation. It plays a fundamental role in the recognition of faces, especially those expressing fear, and makes it possible to comprehend different emotiona...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Ruggieri VL

    更新日期:2014-02-24 00:00:00

  • [Nerve growth factor in neurodegeneration and neurorestorative therapy].

    abstract:AIMS:The purpose of this work was to gather the information currently available about the content of nerve growth factor (NGF) in experimental models of neurodegeneration and in neurodegenerative diseases, including Alzheimer's, Parkinson's and Huntington's diseases, as well as to analyse how NGF content is affected by...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Lorigados-Pedre L,Bergado-Rosado J

    更新日期:2004-05-16 00:00:00

  • [Guidelines on the appropriate use of animal models for developing therapies in multiple sclerosis].

    abstract:INTRODUCTION:The advance in the achievement of effective therapies for multiple sclerosis (MS), the definition of appropriate therapeutic windows and to establish better diagnostic and prognostic biomarkers have become a challenging task for both researchers and clinicians. Some pitfalls in clinical trials might be rel...

    journal_title:Revista de neurologia

    pub_type: 指南,杂志文章

    doi:

    authors: Moreno B,Espejo C,Mestre L,Suardiaz M,Clemente D,de Castro F,Fernández-Fernández Ó,Montalban X,Villoslada P,Guaza C,Spanish Network for MS.

    更新日期:2012-01-16 00:00:00

  • [Selective attention disorders associated with a history of occupational exposure to organic solvents].

    abstract:INTRODUCTION:The cognitive effects of long-term exposure to organic solvents could be similar to those triggered by certain neurodegenerative diseases. AIMS:The purpose of this study was to evaluate the effects exerted by accumulated exposure on the cognitive functions. PATIENTS AND METHODS:105 subjects with an avera...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Mayor-Ríos J,del Castillo-Martín N,López-Hernández V,Galán-García L,Suárez-Murias C,Charró-Ruiz L

    更新日期:2003-12-01 00:00:00

  • [Aspects concerning behavioural development and socialisation and how they are linked to attention deficit hyperactivity disorder].

    abstract:INTRODUCTION:Despite their importance, little attention has been given to the recognition of early markers of hyperactivity in the scientific literature and in everyday practice it can be difficult to separate some of the physiological behaviours displayed by older babies or preschool infants from pathological processe...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Eirís-Puñal J,Gómez-Lado M,Castro-Gago M

    更新日期:2006-02-13 00:00:00

  • [Cognitive dysfunction in fibromyalgia].

    abstract:INTRODUCTION:People with a fibromyalgia diagnosis complain of having very poor cognitive functioning. In recent years, there has been an increasing interest to investigate which cognitive impairment is present in this disease. AIM:To review the published research on fibromyalgia and cognitive dysfunction. DEVELOPMENT...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Gelonch O,Garolera M,Rosselló L,Pifarré J

    更新日期:2013-06-01 00:00:00

  • [Clinical features of cerebral toxoplasmosis in Cuban patients with AIDS].

    abstract:INTRODUCTION:Neurotoxoplasmosis (NTX) is one of the commonest opportunist infections in patients infected by the human immunodeficiency virus. It presents with a variety of clinical features in the immunocompromised patient. PATIENTS AND METHODS:We made a horizontal retrospective descriptive study of 88 patients with ...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Hernández-González E,Zamora F,Barnés J,Bender JE,Rodríguez-Delgado F,Millán-Marcelo JC

    更新日期:2002-04-01 00:00:00

  • [Clinical and psychosocial factors associated with seizure control in patients with juvenile myoclonic epilepsy].

    abstract:AIM:To identify the clinical and psychosocial factors of a Colombian cohort of patients with juvenile myoclonic epilepsy and its relation to crisis control. PATIENTS AND METHODS:Retrospective cohort study of patients over 14 years of age with a diagnosis of juvenile myoclonic epilepsy, with 12 months of follow-up in a...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:10.33588/rn.6911.2019305

    authors: Sánchez-Zapata P,Zapata-Berruecos JF

    更新日期:2019-12-01 00:00:00

  • [Late-onset migraine equivalent with prolonged aura and altered brain perfusion].

    abstract:TITLE:Equivalente migrañoso de inicio tardío con aura prolongada y alteración de la perfusión cerebral. : ...

    journal_title:Revista de neurologia

    pub_type: 信件

    doi:10.33588/rn.7011.2019333

    authors: Mayà-Casalprim G,Rudilosso S,Serrano E,Reyes-Leiva D,Escudero-Rubí D,Obach-Baurier V

    更新日期:2020-06-01 00:00:00

  • [Seven ipsative keys to understanding the poor 'Hispanic' student in the USA].

    abstract:INTRODUCTION:Examination of the special bilingual student (5% of the bilingual student population of the USA) permits us to use not only (1) the statistical reports of the population coefficients and percentages), (2) measurements of progress or performance (age in years or grades of progress at school) and (3) the neu...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Sedó MA

    更新日期:2001-09-01 00:00:00

  • [Schizencephaly associated with porencephaly in a girl with congenital cytomegalovirus infection].

    abstract:INTRODUCTION:At the present time it is perfectly clear that schizencephaly is an anomaly of neuronal migration and porencephaly is the result of destruction of the cerebral cortex. Schizencephaly is the final result of a variety of lesions which occur during a critical period of the development of the brain. Imaging st...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Tomás-Vila M,García-Tamarit P,García-Colino A,Torregrosa-Pascual P,Martínez-Salinas P

    更新日期:2000-11-16 00:00:00

  • [Neuropsychological disorders in teenagers with attention deficit hyperactivity disorder].

    abstract:AIMS:The aim of this study is to report on the neuropsychological aspects of teenage patients with attention deficit hyperactivity disorder (ADHD), namely disorders affecting attention, memory, the executive functions and language. We also discuss how to perform neuropsychological and functional evaluation of the syste...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Mulas F,Etchepareborda MC,Abad-Mas L,Díaz-Lucero A,Hernández S,de la Osa A,Pascuale MJ,Ruiz-Andrés R

    更新日期:2006-10-10 00:00:00

  • [A new formulation of death: definition, criteria and diagnostic tests].

    abstract:OBJECTIVE:To present a new formulation of human death based on neurological considerations. DEVELOPMENT:One of the reasons there is still controversy over a new formulation of human death which is acceptable to society, is that many authors do not suitably integrate three fundamental aspects which should be included i...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Machado-Curbelo C

    更新日期:1998-06-01 00:00:00

  • [Purely bulbar hematomas].

    abstract:INTRODUCTION:Purely bulbar hematomas are not common (0.25%-0.50% of all intraparenchymatous hematomas), probably because of the particular characteristics of the anatomy and hemodynamics of the bulbar circulation. CLINICAL CASES:We selected 18 cases. Three of these were our own and the purely bulbar localization was c...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Jato M,Rubio F

    更新日期:1998-10-01 00:00:00

  • [Orthostatic tremor: an enigmatic condition].

    abstract:INTRODUCTION:Orthostatic tremor is a rare kind of tremor which is clinically characterised by a feeling of instability or being about to fall that is experienced on standing up, which disappears or improves on walking and is absent when sitting or lying down. AIM:To shed light on the main features of this tremor syndr...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Labiano-Fontcuberta A,Benito-Leon J,Dominguez-Gonzalez C

    更新日期:2012-04-01 00:00:00

  • [Quantitative and cytomorphometric analysis of glial population in the frontal cortex of contralaterally lesioned rats].

    abstract:INTRODUCTION:In the last years, the changes in glial cells during different alterations in the Central Nervous System have been studied. It is known that astrocytes and microglial cells are the glial cells which present the major reactivity. OBJECTIVE:The aim of this work was to analyze the glial cell changes induced ...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Ramírez-Expósito MJ,Martínez-Martos JM

    更新日期:1999-09-01 00:00:00

  • [Isolated girdle weakness: expansion of the phenotypic spectrum of the MERRF 8344A>G mutation of mitochondrial DNA].

    abstract:INTRODUCTION:The differential diagnosis of diseases that are accompanied by adult-onset girdle weakness is broad and includes motor neurone, neuromuscular junction or muscular diseases. The 8344A>G mutation of the MTTK gene of mitochondrial DNA usually presents with involvement of multiple organs associated (or not) wi...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Erdocia-Goni A,Alonso-Jimenez A,Ramon-Carbajo C,Garcia-Arumi E,Casquero P,Gallardo E,Diaz-Manera J

    更新日期:2018-04-16 00:00:00

  • [Value of cranial MRI in the follow-up of dural sinus thrombosis].

    abstract:INTRODUCTION:At the present time it is well established that cranial magnetic resonance (MR) is the imaging technique of choice for diagnosis of thrombosis of the dural sinuses. However, few studies have been done to evaluate its role in follow-up in this cerebrovascular disorder. OBJECTIVE:To assess the alterations i...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Bosch J,Rovira A,Alvarez-Sabín J,Capellades J,Abilleira S,Sumalla J

    更新日期:1998-06-01 00:00:00

  • [Genetics applied to clinical practice in neurodevelopmental disorders].

    abstract::The medical literature contains a wide body of evidence supporting genetic involvement in neurodevelopmental disorders. Advances made in genetics and technology have increased the diagnostic cost-effectiveness of current studies from 3-5% to 30-40% in patients with intellectual disability or autism spectrum disorders....

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Fernández-Jaén A,Cigudosa JC,Martín Fernández-Mayoralas D,Suela J,Fernández-Perrone AL,Calleja-Pérez B,López-Martín S

    更新日期:2014-02-24 00:00:00