Results 21 to 30 of about 404 (117)
AMRC Open Research, 2021 Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the symptom patterns associated with the various types of ataxia, and how these diseases progress
Julie Greenfield +4 more
doaj +1 more source
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
Light‐Controlled Modulation of 15‐Lipoxygenase‐1 Regulates Intestinal Inflammatory Signaling
Angewandte Chemie, EarlyView.The developed target‐guided strategy enables the rational design of diazo‐based photoswitchable inhibitors of 15‐lipoxygenase‐1. Distinct molecular architectures program opposite light‐dependent activity, allowing on‐demand control of enzyme inhibition.
Anastasia Louka +10 more
wiley +2 more sources
Respiratory Function in Friedreich’s Ataxia
Children, 2022 Background: Friedreich’s ataxia is an inherited, rare, progressive disorder of children and young adults. It is characterized by ataxia, loss of gait, scoliosis, cardiomyopathy, dysarthria and dysphagia, with reduced life expectancy.
Elena Vinante +4 more
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European Journal of Case Reports in Internal Medicine, 2015 A 40-year old woman, previously known for Friedreich’s ataxia, presented with shock, profound lactic acidosis and hepatic failure after ingestion of a high dose of nicotinamide, the amide form of vitamin B3.
Nicolas Garin, Pierre Arnold
doaj +1 more source
Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS
Annals of Clinical and Translational Neurology, 2022 The ever‐increasing body of ataxia research provides opportunities for large‐scale meta‐analyses, systematic reviews, and data aggregation. Because multiple standardized scales are used to quantify ataxia severity, harmonization of these measures is ...
Christian Rummey +5 more
doaj +1 more source
Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review
Arquivos Brasileiros de Cardiologia, 2002 OBJECTIVE - Cardiac evaluation (clinical, electrocardiographic and echocardiographic) of 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia (FA) related to the frequency and the size of GAA repeats (unstable expansion of trinucleotide ...
Lilian Maria José Albano +6 more
doaj +1 more source
Diagnosing Friedreich's ataxia [PDF]
Archives of Disease in Childhood, 1998 Clinical diagnosis is still of the utmost importance and following our review of cases diagnosed using the strict criteria, 100% were homozygous for the expansion. However, now that there is a relatively simple direct genetic test, the diagnosis can be considered in more unusual cases.
openaire +2 more sources