Results 181 to 190 of about 5,562 (221)

Voice in Friedreich Ataxia

Journal of Voice, 2017
Friedreich Ataxia (FRDA) is the most common hereditary ataxia, with dysarthria as one of its key clinical signs.To describe the voice profile of individuals with FRDA to inform outcome marker development and goals of speech therapy.Thirty-six individuals with FRDA and 30 age-matched controls provided sustained vowel and connected speech samples. Speech
Vogel, Adam P., Wardrop, Mayumi I., Folker, Joanne E., Synofzik, Matthis, Corben, Louise A., Delatycki, Martin B., Awan, Shaheen N.   +6 more
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Friedreich's ataxia

2001
info:eu-repo/semantics ...
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Pharmacotherapy for Friedreich Ataxia

CNS Drugs, 2009
Friedreich ataxia (FA) is a progressive genetic neurological disorder associated with degeneration of the dorsal columns, spinocerebellar tracts and other regions of the nervous system. The disorder results from mutations in the gene referred to as FXN.
Amy Y, Tsou, Lisa S, Friedman, Robert B, Wilson, David R, Lynch   +3 more
openaire   +2 more sources

Dominant ataxias and Friedreich ataxia

Current Opinion in Neurology, 2003
The 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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Mortality in Friedreich Ataxia

Journal of the Neurological Sciences, 2011
Although cardiac dysfunction is widely accepted as the most common cause of mortality in Friedreich ataxia (FRDA), no studies have evaluated this since the advent of specific clinical and genetic diagnostic criteria.We performed a retrospective study of FRDA patients to determine cause of death followed by a case-control analysis comparing ...
Amy Y, Tsou, Erin K, Paulsen, Sarah J, Lagedrost, Susan L, Perlman, Katherine D, Mathews, George R, Wilmot, Bernard, Ravina, Arnulf H, Koeppen, David R, Lynch   +8 more
openaire   +2 more sources

Nasality in Friedreich ataxia

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, Wee, JS, Folker, JE, Corben, LA, Delatycki, MB, Vogel, AP   +5 more
openaire   +5 more sources

The vectorcardiogram in Friedreich's ataxia

American Heart Journal, 1974
Abstract 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, 2012
Friedreich 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, Rut, Correia, Erika, de Nóbrega, Fernando, Montón, Stephany, Hess, Jose, Barroso   +5 more
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Pregnancy associated with friedreich ataxia

Obstetrics & Gynecology, 1990
The 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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Iron and Friedreich ataxia

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
openaire   +3 more sources