Results 151 to 160 of about 4,301 (184)

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.
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

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

Dysarthria in Friedreich’s ataxia

2009
Extended abstract ...
Folker, JE, Murdoch, BE, Cahill, LM, Vogel, AP, Delatycki, MB, Corben, LA   +5 more
openaire   +3 more sources

Friedreich Ataxia

Seminars in Pediatric Neurology, 2014
openaire   +2 more sources

Emerging therapies in Friedreich’s Ataxia

Expert Review of Neurotherapeutics, 2020
Sheng-Han Kuo
exaly  

Delayed-onset Friedreich's ataxia revisited

Movement Disorders, 2016
Massimo Pandolfo, Jean-Philippe Azulay, Mathieu Anheim   +2 more
exaly  

Small molecules affecting transcription in Friedreich ataxia

Pharmacology & Therapeutics, 2007
Joel M. Gottesfeld
exaly  

Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia

Molecular Therapy, 2018
Françoise Piguet, Helene Puccio, Laurence Reutenauer   +2 more
exaly