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Clinical stage and plasma neurofilament concentration in adults with Friedreich ataxia. [PDF]
HeliyonJohnsson M +3 more
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Accelerometer-based measures in Friedreich ataxia: a longitudinal study on real-life activity. [PDF]
Front PharmacolFichera M +9 more
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Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension. [PDF]
Neurol TherBuchholz M +8 more
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Archives of Otolaryngology - Head and Neck Surgery, 1981
To the Editor .—In the recent article entitled "Auditory Function in Friedreich's Ataxia: Electrophysiologic Study of a Family" in theArchives(1981;107:254-256), Shanon and co-workers reported electrophysiologic abnormalities in a family suffering from Friedreich's ataxia.
S, Satya-Murti, A T, Cacace
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To the Editor .—In the recent article entitled "Auditory Function in Friedreich's Ataxia: Electrophysiologic Study of a Family" in theArchives(1981;107:254-256), Shanon and co-workers reported electrophysiologic abnormalities in a family suffering from Friedreich's ataxia.
S, Satya-Murti, A T, Cacace
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Pediatric Neurology, 2003
Friedreich's ataxia, the most common hereditary ataxia, is caused by expansion of a GAA triplet located within the first intron of the frataxin gene on chromosome 9q13. There is a clear correlation between size of the expanded repeat and severity of the phenotype. Frataxin is a mitochondrial protein that plays a role in iron homeostasis.
Gulay, Alper, Vinodh, Narayanan
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Friedreich's ataxia, the most common hereditary ataxia, is caused by expansion of a GAA triplet located within the first intron of the frataxin gene on chromosome 9q13. There is a clear correlation between size of the expanded repeat and severity of the phenotype. Frataxin is a mitochondrial protein that plays a role in iron homeostasis.
Gulay, Alper, Vinodh, Narayanan
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2002
Publisher Summary This chapter discusses the features of Friedreich's ataxia (FRDA) including clinical features, pathological features, and genetic features. Friedreich's ataxia usually presents in adolescence and clinical features includes a progressive limb and gait ataxia, absence of deep-tendon reflexes, extensor plantar responses, and loss of ...
J M, Cooper, J L, Bradley
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Publisher Summary This chapter discusses the features of Friedreich's ataxia (FRDA) including clinical features, pathological features, and genetic features. Friedreich's ataxia usually presents in adolescence and clinical features includes a progressive limb and gait ataxia, absence of deep-tendon reflexes, extensor plantar responses, and loss of ...
J M, Cooper, J L, Bradley
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2001
This chapter discusses Friedreich's ataxia, the most frequent cause of inherited ataxia in Caucasians. The disease is, in most cases, due to a large expansion of an intronic GAA repeat, resulting in decreased expression of the target frataxin gene.
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This chapter discusses Friedreich's ataxia, the most frequent cause of inherited ataxia in Caucasians. The disease is, in most cases, due to a large expansion of an intronic GAA repeat, resulting in decreased expression of the target frataxin gene.
openaire +1 more source
Pediatrics, 1982
The clinical features of 115 patients from 90 families with Friedreich's ataxia are described. Onset of symptoms was before the age of 25 (mean 10.52) years in all the index cases. An analysis of early cases suggested that limb and truncal ataxia and absent tendon reflexes in the legs were the only consistent diagnostic criteria within five years of ...
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The clinical features of 115 patients from 90 families with Friedreich's ataxia are described. Onset of symptoms was before the age of 25 (mean 10.52) years in all the index cases. An analysis of early cases suggested that limb and truncal ataxia and absent tendon reflexes in the legs were the only consistent diagnostic criteria within five years of ...
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2014
Friedreich’s ataxia (FA) is a neurodegenerative disorder characterized by progressive ataxic gait and limb ataxia, limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, dysphagia, oculomotor dysfunction, nystagmus, decreased vibratory sense and proprioception, pyramidal tract signs (spasticity), diabetes, and ...
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Friedreich’s ataxia (FA) is a neurodegenerative disorder characterized by progressive ataxic gait and limb ataxia, limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, dysphagia, oculomotor dysfunction, nystagmus, decreased vibratory sense and proprioception, pyramidal tract signs (spasticity), diabetes, and ...
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2013
Friedreich’s ataxia is a rare but relentless neurodegenerative disease which affects one individual in 50 000. Being recessive, this hereditary condition is carried by one individual in ca. 120. Although it was first diagnosed in 1863 by Nikolaus Friedreich, it was only in 1996 that the genetic cause became clear: it is due to anomalous expansion of a ...
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Friedreich’s ataxia is a rare but relentless neurodegenerative disease which affects one individual in 50 000. Being recessive, this hereditary condition is carried by one individual in ca. 120. Although it was first diagnosed in 1863 by Nikolaus Friedreich, it was only in 1996 that the genetic cause became clear: it is due to anomalous expansion of a ...
openaire +1 more source