Results 11 to 20 of about 4,103 (182)

Anesthetic Management on a Patient with Friedreich’s Ataxia

Medicine Science, 2013
Friedreich’s ataxia is a rare (1:50 000) autosomal recessively inherited neurodegenerative disorder. Findings such as weakness in skeletal muscles, progressive difficulty in walking and extremity ataxia are prominent. Problems such as cardiac, endocrine,
Ulku Ozgul, Mehmet Ali Erdogan, Mustafa Said Aydogan, Mehmet Fatih Korkmaz, Hamza Nakir, Mahmut Durmus   +5 more
doaj   +1 more source

Hepatic mitochondrial dysfunction in Friedreich Ataxia

BMC Neurology, 2011
Background Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas.
Stüwe Sven H, Goetze Oliver, Arning Larissa, Banasch Matthias, Schmidt Wolfgang E, Schöls Ludger, Saft Carsten   +6 more
doaj   +1 more source

Dysphagia in Friedreich Ataxia [PDF]

Dysphagia, 2017
The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during swallowing. We also investigated the psychosocial impact of dysphagia on individuals with FRDA.
Megan J. Keage, Martin B. Delatycki, Isabelle Gupta, Louise A. Corben, Adam P. Vogel   +4 more
openaire   +3 more sources

Insights into the role of oxidative stress in the pathology of Friedreich ataxia using peroxidation resistant polyunsaturated fatty acids

Redox Biology, 2013
Friedreich ataxia is an autosomal recessive, inherited neuro- and cardio-degenerative disorder characterized by progressive ataxia of all four limbs, dysarthria, areflexia, sensory loss, skeletal deformities, and hypertrophic cardiomyopathy. Most disease
M. Grazia Cotticelli, Andrew M. Crabbe, Robert B. Wilson, Mikhail S. Shchepinov   +3 more
doaj   +1 more source

Friedreich ataxia: an overview [PDF]

Journal of Medical Genetics, 2000
Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to rapid advances in the understanding of the pathogenesis of Friedreich ataxia. About 98% of mutant alleles have an expansion of a GAA trinucleotide repeat in
M B, Delatycki, R, Williamson, S M, Forrest   +2 more
openaire   +2 more sources

FRIEDREICH'S ATAXIA. [PDF]

The Lancet, 1902
n ...
openaire   +2 more sources

HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.

PLoS ONE, 2008
BackgroundFriedreich ataxia, an autosomal recessive neurodegenerative and cardiac disease, is caused by abnormally low levels of frataxin, an essential mitochondrial protein.
Myriam Rai, Elisabetta Soragni, Kai Jenssen, Ryan Burnett, David Herman, Giovanni Coppola, Daniel H Geschwind, Joel M Gottesfeld, Massimo Pandolfo   +8 more
doaj   +1 more source

Friedreich ataxia- pathogenesis and implications for therapies

Neurobiology of Disease, 2019
Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/compound heterozygous mutations in FXN. This gene encodes frataxin, a protein largely localized to mitochondria.
Martin B. Delatycki, Sanjay I. Bidichandani   +1 more
doaj   +1 more source

FRIEDREICH'S ATAXIA. [PDF]

The Lancet, 1910
n ...
openaire   +1 more source

Friedreich's ataxia [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2004
Friedreich’s ataxia, a spinocerebellar degeneration, is an autosomal recessive disease of the cerebellum, spinal cord, and peripheral nerves. Symptoms generally begin before puberty and include an ataxic gait, dysarthria, loss of reflexes, and variably nystagmus, kyphoscoliosis, and pes cavus.
openaire   +2 more sources