Results 101 to 110 of about 9,290 (208)
Ciencias Holguín, 2011 La ataxia de Friedreich se caracteriza por edad de comienzo antes de los 25 años, ataxia progresiva, disartria, ausencia de reflejos tendinosos profundos y alteraciones en el sentido de vibración.
Tania Cruz Mariño +3 more
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A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxia
Acta Radiologica Short Reports, 2014 Background Recombinant human erythropoietin (rhuEPO) has received considerable attention because of its neuroprotective properties. It has recently been reported that rhuEPO increases frataxin levels in combination with clinical improvement in rhuEPO ...
Wolfram Santner +4 more
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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology [PDF]
, 2006 Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA repeat expansion, its unstable dynamics within different cells and tissues, and ...
Al-Mahdawi, S +10 more
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A novel mutation in SACS gene in a family from southern Italy [PDF]
, 2004 A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC),
BANFI S +10 more
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Novel Mitochondrial Homoplasmic T4216C Mutation in Iranian Patients with Friedreich Ataxia
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2010 Introduction: The mitochondrial defects in Friedreich ataxia (FRDA) have been reported in many researches. Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by decreased expression of the Frataxin protein.
M Heidari, M Khatami
doaj
Tissue Iron in Friedreich Ataxia
Journal of Integrative NeuroscienceHeart, dentate nucleus, and dorsal root ganglia (DRG) are targets of tissue damage in Friedreich ataxia (FA). This report summarizes the histology and histopathology of iron in the main tissues affected by FA.
Arnulf H Koeppen
doaj +1 more source
Análisis molecular en pacientes colombianos con Ataxia de Friedreich
Acta Biológica Colombiana, 2001 Identificar entre los pacientes que sufren algún tipo de ataxia hereditaria, las formas progresivas tipo Friedreich (FRDA), determinando el tipo de herencia y correlacionar el genotipo encontrado con las manifestaciones genonpicas.
C. Durán +3 more
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Enfermedad cardiovascular en pacientes cubanos afectados por Ataxia de Friedreich.
Ciencias Holguín, 2010 Al describir la ataxia de Friedreich, Nicholaus hizo referencia a la patología cardiaca. Esta enfermedad autosómica recesiva se debe a una mutación dinámica en el gen FRDA, codificándose deficientemente la proteína Frataxina, conduciendo a estrés ...
Tania Cruz Mariño +3 more
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Nerve Ultrasound in Patients With Friedreich Ataxia. [PDF]
Muscle NerveKneer K +9 more
europepmc +1 more source