Results 81 to 90 of about 5,571 (197)
Pharmacological treatments for Friedreich ataxia [PDF]
, 2016 BACKGROUND: Friedreich ataxia is a rare inherited autosomal recessive neurological disorder, characterised initially by unsteadiness in standing and walking, slowly progressing to wheelchair dependency usually in the late teens or early twenties.
Brassington, R +4 more
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Mitochondrial Cardiomyopathies [PDF]
, 2016 Mitochondria are found in all nucleated human cells and perform a variety of essential functions, including the generation of cellular energy. Mitochondria are under dual genome control.
Ayman W. El-Hattab, Fernando Scaglia
core +2 more sources
The Structure and Function of Frataxin [PDF]
, 2006 Frataxin, a highly conserved protein found in prokaryotes and eukaryotes, is required for efficient regulation of cellular iron homeostasis. Humans with a frataxin deficiency have the cardio- and neurodegenerative disorder Friedreich’s ataxia, commonly ...
Bencze, Krisztina Z. +6 more
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Desarrollo de un sistema de cuantificación de frataxina humana para el diagnóstico complementario y seguimiento de individuos con Ataxia de Friedreich [PDF]
, 2018 Introducción: la Ataxia de Friedreich es una enfermedad genética de herencia autosómica recesiva, caracterizada por la dificultad en el movimiento. La causa es la mutación en el gen que codifica para una proteína mitocondrial denominada frataxina (Fxn ...
Balbi, Noelia +5 more
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Aspectos logopédicos prevalentes en la ataxia de Friedreich
, 2021 Grado en ...
openaire +1 more source
Estrés oxidativo y ataxias hereditarias
Revista Cubana de Investigaciones Biomédicas, 2003 Se revisó el estado actual de las enfermedades heredodegenerativas espinocerebelosas, las cuales conforman un conjunto de entidades cuyo rasgo nosológico mejor definido en la actualidad es su carácter hereditario.
Gretel Riverón Forment
doaj
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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Ocupación Humana, 2015 La ataxia de Friederich es una enfermedad hereditaria neurodegenerativa, caracterizada por el deterioro de las células nerviosas, relacionada con bajos niveles de proteína fraxatina.
Aristela De Freitas Zanona +7 more
doaj
Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich\u27s ataxia. [PDF]
, 2013 BACKGROUND: Friedreich ataxia is a progressive neurodegenerative disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene and, ultimately, a deficiency in the levels of functional frataxin protein.
Belmonte, Matthew +5 more
core +1 more source
Ataxia de Friedreich: perspectivas de tratamento
, 2011 Friedreich’s ataxia is an autossomal recessive disease first described in 1863 by Nikolaus Friedreich [1]. It affects approximately one in every 50,000 Caucasians. It manifests early, normally during the second decade of life, usually with gait ataxia. Hands are affected months or years after the involvement of the legs, followed by the involvement of ...
openaire +1 more source