Results 111 to 120 of about 6,264 (195)
Friedreich’s Ataxia: A Neuronal Point of View on the Oxidative Stress Hypothesis
Antioxidants, 2014 A prominent feature of Friedreich’s ataxia (FRDA) is the neurodegeneration of the central and peripheral nervous systems, but little information is available about the mechanisms leading to neuronal damage in this pathology.
Barbara Carletti, Fiorella Piemonte
doaj +1 more source
Young people's perspectives on genetics, identity and society using film and discussion [PDF]
, 2005 Since Darwin, knowledge about biology has, for many, had a diminishing effect on ideas of identity and humanity's place in the world. In recent years biotechnology has raised further public concerns about 'playing God' and 'interfering with life.' School
Murphy, Padraig
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The relationship between acoustic indices of speech motor control variability and other measures of speech performance in dysarthria [PDF]
, 2012 Previous studies suggested that variability indices based on information extracted from the acoustic signal are potentially useful in assessing dysarthric speech.
Lowit, Anja, Van Brenk, Frits
core
Nature Communications, 2019 The iron-sulfur cluster (ISC) assembly complex is activated by frataxin (FXN) and Friedreich’s ataxia is caused by FXN deficiency. Here the authors present the 3.2 Å resolution cryo-EM structure of the human frataxin bound ISC complex and discuss how FXN
Nicholas G. Fox +9 more
doaj +1 more source
Importance of analyzing the genomic instability in stem cell-based therapies [PDF]
, 2016 Stem cells are the main component in cell-based therapies and regenerative medicine to replace damaged tissues and cure various diseases. In regenerative medicine, in vitro stem cells’ culture is required for proliferation and differentiation.
Alizadeh, A., Ghasemi, S.
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Friedreich’s Ataxia-A Case Report
Journal of Rawalpindi Medical College, 2018 Friedrich’s ataxia (FA) is an autosomal recessive disorder. It is the most common cause of inherited ataxia. It affects approximately 1-2 persons per 100,000 population.[i] It occurs due to a mutation that results in the homozygous expansion of Guanosine
Tahreem Muntaha +3 more
doaj
Refa (Rehabilitasi Friedreich\u27s Ataxia) sebagai Upaya Peningkatan Kualitas Hidup Penderita di Kecamatan Ampel Boyolali [PDF]
, 2013 Genetic disorders are the most common coordination in the world is Fridreich \u27s ataxia (FA). In Indonesia FA obtained Boyolali Ampel area. FA is progressive and has not found specific drugs for FA.
Dewanti, A. A. (Ajeng) +3 more
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Brain structural damage in Friedreich's ataxia.
, 2008 Objective: Neuropathological descriptions of the brain in Friedreich’s ataxia (FRDA) were obtained before avail- ability of the current molecular genetic tests for this disease.
DE MICHELE, GIUSEPPE +9 more
core +1 more source
Friedreich's Ataxia-Health Index: Development and Validation of a Novel Disease-Specific Patient-Reported Outcome Measure. [PDF]
Neurol Clin Pract, 2023 Seabury J +17 more
europepmc +1 more source