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The genetic nomenclature of recessive cerebellar ataxias
Movement Disorders, 2018 The recessive cerebellar ataxias are a large group of degenerative and metabolic disorders, the diagnostic management of which is difficult because of the enormous clinical and genetic heterogeneity.
Malco Rossi +2 more
exaly +3 more sources
Consensus Paper: Neuroimmune Mechanisms of Cerebellar Ataxias [PDF]
Cerebellum, 2015 In the last few years, a lot of publications suggested that disabling cerebellar ataxias may develop through immune-mediated mechanisms. In this consensus paper, we discuss the clinical features of the main described immune-mediated cerebellar ataxias ...
Daniel Aeschlimann +2 more
exaly +2 more sources
Zebrafish Models of Autosomal Dominant Ataxias
Cells, 2021 Hereditary dominant ataxias are a heterogeneous group of neurodegenerative conditions causing cerebellar dysfunction and characterized by progressive motor incoordination.
Ana Quelle-Regaldie +1 more
exaly +3 more sources
Advances in Therapies of Cerebellar Disorders: Immune-mediated Ataxias
CNS and Neurological Disorders - Drug Targets, 2019 :The identification of an increasing number of immune mediated ataxias suggests that the cerebellum is often a target organ for autoimmune insults. The diagnosis of immune mediated ataxias is challenging as there is significant clinical overlap between ...
Marios Hadjivassiliou
exaly +2 more sources
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2013
The approach to the child with ataxia requires a detailed history and careful general and neurological examination as well as selected blood work and brain imaging and increasingly available genetic testing for inherited ataxias that usually have an episodic or progressive presentation.
Sara, Winchester +2 more
openaire +2 more sources
The approach to the child with ataxia requires a detailed history and careful general and neurological examination as well as selected blood work and brain imaging and increasingly available genetic testing for inherited ataxias that usually have an episodic or progressive presentation.
Sara, Winchester +2 more
openaire +2 more sources
Clinics in Geriatric Medicine, 2006
Gait disorders in elderly individuals are a major cause of falls and their attendant morbidities. Ataxia is one of the neurologic components of fall risk, as are inattention or confusion, visual impairment, vestibular impairment, subcortical white matter disease, parkinsonism, weakness, sensory loss, orthostasis or arrhythmia with alterations in blood ...
openaire +2 more sources
Gait disorders in elderly individuals are a major cause of falls and their attendant morbidities. Ataxia is one of the neurologic components of fall risk, as are inattention or confusion, visual impairment, vestibular impairment, subcortical white matter disease, parkinsonism, weakness, sensory loss, orthostasis or arrhythmia with alterations in blood ...
openaire +2 more sources
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.
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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