Results 211 to 220 of about 156,479 (260)
Some of the next articles are maybe not open access.
Neurologic Clinics, 1985
Clinical, biochemical, and genetic studies have brought clarity to many issues concerning the inherited ataxias. The classification, diagnosis, and therapy of hereditary ataxias are now better understood although many questions remain. Basic defects are identified in some disorders.
openaire +3 more sources
Clinical, biochemical, and genetic studies have brought clarity to many issues concerning the inherited ataxias. The classification, diagnosis, and therapy of hereditary ataxias are now better understood although many questions remain. Basic defects are identified in some disorders.
openaire +3 more sources
Neurologic Clinics, 2002
Advances in molecular genetics have led to identification of an increasing number of genes responsible for inherited ataxic disorders. Consequently, DNA testing has become a powerful method to unambiguously establish the diagnosis in some of these disorders; however, there are limitations in this approach.
Alberto L, Rosa, Tetsuo, Ashizawa
openaire +2 more sources
Advances in molecular genetics have led to identification of an increasing number of genes responsible for inherited ataxic disorders. Consequently, DNA testing has become a powerful method to unambiguously establish the diagnosis in some of these disorders; however, there are limitations in this approach.
Alberto L, Rosa, Tetsuo, Ashizawa
openaire +2 more sources
Dominant ataxias and Friedreich ataxia
Current Opinion in Neurology, 2003The present review covers recent developments in inherited ataxias. The discovery of new loci and genes has led to improved understanding of the breadth and epidemiology of inherited ataxias. This has resulted also in more rational classification schemes.
openaire +2 more sources
Dermatologic Clinics, 1995
Abstract Abstract SCI-7 Ataxia-telangiectasia (A-T) is the prototype for an expanded group of inherited radiation sensitive disorders that together define the XCIND syndrome: x-ray hypersensitivity, cancer, immunodeficiency, neurological dysfunction, and DNA repair deficiency.
openaire +2 more sources
Abstract Abstract SCI-7 Ataxia-telangiectasia (A-T) is the prototype for an expanded group of inherited radiation sensitive disorders that together define the XCIND syndrome: x-ray hypersensitivity, cancer, immunodeficiency, neurological dysfunction, and DNA repair deficiency.
openaire +2 more sources
Current Opinion in Neurology, 2009
The term 'cerebellar ataxias' encompasses the various cerebellar disorders encountered during daily practice. Patients exhibit a cerebellar syndrome and can also present with pigmentary retinopathy, extrapyramidal movement disorders, pyramidal signs, cortical symptoms (seizures, cognitive impairment/behavioural symptoms), and peripheral neuropathy. The
Manto, Mario, Marmolino, Daniele
openaire +3 more sources
The term 'cerebellar ataxias' encompasses the various cerebellar disorders encountered during daily practice. Patients exhibit a cerebellar syndrome and can also present with pigmentary retinopathy, extrapyramidal movement disorders, pyramidal signs, cortical symptoms (seizures, cognitive impairment/behavioural symptoms), and peripheral neuropathy. The
Manto, Mario, Marmolino, Daniele
openaire +3 more sources
Archives of Internal Medicine, 1949
CLASSIC descriptions of the ataxias in textbooks are short and convincing, comprising two or three paragraphs, and frequently giving the impression that all of importance is known and well established. Certain "classic, pathognomonic" characteristics are described, with the knowledge of which one can make the diagnosis infallibly: For example ...
openaire +2 more sources
CLASSIC descriptions of the ataxias in textbooks are short and convincing, comprising two or three paragraphs, and frequently giving the impression that all of importance is known and well established. Certain "classic, pathognomonic" characteristics are described, with the knowledge of which one can make the diagnosis infallibly: For example ...
openaire +2 more sources
2018
The nervous system is vulnerable to intrinsic and extrinsic metabolic perturbations. In particular, the cerebellum, with its large Purkinje cells and its high density of neurons and glial cells, has high metabolic demand and is highly vulnerable to metabolic derangements.
Fatima Y, Ismail +2 more
openaire +2 more sources
The nervous system is vulnerable to intrinsic and extrinsic metabolic perturbations. In particular, the cerebellum, with its large Purkinje cells and its high density of neurons and glial cells, has high metabolic demand and is highly vulnerable to metabolic derangements.
Fatima Y, Ismail +2 more
openaire +2 more sources
Functional ataxia in a specialized ataxia center
Parkinsonism & Related DisordersFunctional gait is a disorder of ambulation and balance internally inconsistent and incongruent with the phenotypic spectrum of neurological gait disorders.This paper aims to clinically characterize patients with functional ataxia.Patients with functional ataxia were analyzed out of 1350 patients in Ataxia Unit of the Federal University of São Paulo ...
Luíza Alves Corazza +7 more
openaire +2 more sources
Brain, 1977
Visuomotor ataxia is a disorder of movement performed under visual control. It can occur in the absence of disturbance of ocular fixation and in the absence of spatial agnosia. This disorder may extend over the whole visual field or it may be localized to one visual half-field, right or left.
P, Rondot, J, de Recondo, J L, Dumas
openaire +2 more sources
Visuomotor ataxia is a disorder of movement performed under visual control. It can occur in the absence of disturbance of ocular fixation and in the absence of spatial agnosia. This disorder may extend over the whole visual field or it may be localized to one visual half-field, right or left.
P, Rondot, J, de Recondo, J L, Dumas
openaire +2 more sources
Current Opinion in Neurology, 1994
This review summarizes recent advances that have taken place in the field of inherited ataxias. There is increasing understanding of these disorders, primarily because of advances in the field of molecular genetics. Although the Friedreich's ataxia gene has not been cloned yet, there is increasing information about the precise location of this mutation.
openaire +2 more sources
This review summarizes recent advances that have taken place in the field of inherited ataxias. There is increasing understanding of these disorders, primarily because of advances in the field of molecular genetics. Although the Friedreich's ataxia gene has not been cloned yet, there is increasing information about the precise location of this mutation.
openaire +2 more sources