Results 81 to 90 of about 46,226 (179)

Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models

Disease Models & Mechanisms, 2012
In 1996, a link was identified between Friedreich’s ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin (FXN).
Alain Martelli, Marek Napierala, Hélène Puccio   +2 more
doaj   +1 more source

Friedreich's ataxia: a clinical review of 20 childhood cases

, 1988
— The authors report the clinical review of 20 childhood cases with Friedreich's ataxia. The mean age at onset of symptoms was 6.1 years. The main presenting symptom was abnormal gait (100%).
Özeren A., Üikü A., Araç N.
core   +1 more source

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C

Antioxidants
Ataxia is a common neurological feature of Niemann–Pick disease type C (NPC). In this disease, unesterified cholesterol accumulates in lysosomes of the central nervous system and hepatic cells.
Nazgol Motamed-Gorji, Youssef Khalil, Cristina Gonzalez-Robles, Shamsher Khan, Philippa Mills, Hector Garcia-Moreno, Heather Ging, Ambreen Tariq, Peter T. Clayton, Paola Giunti   +9 more
doaj   +1 more source

Hairpin Formation in Friedreich's Ataxia Triplet Repeat Expansion [PDF]

, 2003
Triplet repeat tracts occur throughout the human genome. Expansions of a (GAA)(n)/(TTC)(n) repeat tract during its transmission from parent to child are tightly associated with the occurrence of Friedreich's ataxia.
Makhov, Alexander M., Topal, Michael D., Heidenfelder, Brooke L.   +2 more
core   +1 more source

Friedreich ataxia [PDF]

BMJ, 2013
Peter, Gibilisco, Adam P, Vogel
openaire   +2 more sources

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

Friedreich’s Ataxia

Paediatrica Indonesiana, 2017
This is the first report on Friedreich’s Ataxia occurring in an Indonesian family from North Sumatera.
M.R. Soerjadi, A.H. Sutanto, Bistok Saing, Sahat Halim, Helena Siregar   +4 more
openaire   +2 more sources

Quantitative investigations of FXN transcription and epigenetic modifications, including histone acetylation and methylation, in FRDA human and mouse tissues [PDF]

, 2009
This thesis was submitted for the degree of Master of Philosophy and awarded by Brunel University.Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and, limb ataxia, cardiomayopathy ...
Trabzuni, Daniah M
core   +1 more source

Visual involvement in Friedreich's ataxia and hereditary spastic ataxia

, 1981
Visual involvement was assessed in 21 patients with Friedreich's ataxia and in 17 patients with spastic ataxia by neuro-ophthalmic examination and by recording visual evoked responses (VERs).
Mastaglia, F.L., Livingstone, I.R., Howe, J.W., Edis, R.   +3 more
core  

Kidney infarction in Friedreich's ataxia with dilated cardiomyopathy

, 2012
A 37-year-old man with advanced Friedreich's ataxia was referred to our emergency department with acute exacerbated abdominal pain of unclear aetiology.
Pirvu, Tatiana Nataly, Evangelopoulos, Dimitrios Stergios, Exadaktylos, Aristomenis, Kohl, Sandro   +3 more
core   +1 more source