Results 101 to 110 of about 404 (117)
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Clinical Linguistics & Phonetics, 2014
Perceptual speech research in Friedreich ataxia (FRDA) has identified altered nasality as a key component of the dysarthria profile, however the incidence and severity of abnormal nasality remains unknown. Utilizing objective and perceptual methods, data on the relationship between resonance, disease duration, severity, age of onset and genetic ...
Poole, ML +5 more
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Perceptual speech research in Friedreich ataxia (FRDA) has identified altered nasality as a key component of the dysarthria profile, however the incidence and severity of abnormal nasality remains unknown. Utilizing objective and perceptual methods, data on the relationship between resonance, disease duration, severity, age of onset and genetic ...
Poole, ML +5 more
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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.
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The vectorcardiogram in Friedreich's ataxia
American Heart Journal, 1974Abstract A Frank system vectorcardiographic analysis has been performed in 10 patients with Friedreich's ataxia. None had clinical signs of heart failure nor kyphoscoliosis. The electrocardiographic patterns were abnormal in five patients showing signs of left ventricular hypertrophy with inversion of T waves and abnormal rotation of the heart axis ...
L, Gregorini, R, Valentini, A, Libretti
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Cognition in Friedreich Ataxia
The Cerebellum, 2012Friedreich ataxia (FRDA) is the most frequent of the inherited ataxias. However, very few studies have examined the cognitive status of patients with genetically defined FRDA. Our aim was to study cognitive performance of FRDA patients taking into account the motor problems characteristic of this clinical population.
Antonieta, Nieto +5 more
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Pregnancy associated with friedreich ataxia
Obstetrics & Gynecology, 1990The pregnancy of a woman with Friedreich ataxia was complicated by the onset of preterm labor and preeclampsia. Administration of magnesium sulfate (MgSO4.7H2O) in the usual intravenous dosage resulted in the dramatic development of profound motor weakness and respiratory distress.
J P, Bruner, J D, Yeast
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2006
Friedreich ataxia is due to insufficient levels of frataxin, a mitochondrial iron chaperone that shields this metal from reactive oxygen species (ROS) and renders it bioavailable as Fe II. Frataxin participates in the synthesis of iron-sulfur clusters (ISCs), cofactors of several enzymes, including mitochondrial and cytosolic aconitase, complexes I, II
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Friedreich ataxia is due to insufficient levels of frataxin, a mitochondrial iron chaperone that shields this metal from reactive oxygen species (ROS) and renders it bioavailable as Fe II. Frataxin participates in the synthesis of iron-sulfur clusters (ISCs), cofactors of several enzymes, including mitochondrial and cytosolic aconitase, complexes I, II
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Dysarthria in Friedreich’s ataxia
2009Extended abstract ...
Folker, JE +5 more
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Heart in Friedreich???s ataxia
The American Journal of the Medical Sciences, 1975Most articles on Friedreich's ataxia report that cardiac complications are almost universal in patients with this disease. However, the present study of 30 cases, observed for two to ten years, seems to belie the experience of other writers in the field. Only six (20 per cent) of these patients showed electrocardiographic abnormalities.
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Myocarditis in Friedreich's ataxia
The Journal of Pathology and Bacteriology, 1946openaire +2 more sources