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Fenotipo y genotipo de once pacientes con Ataxia de Friedreich
(Universidad del RosarioEscuela de Medicina y Ciencias de la Salud, 2010)
Introduction:- Friedreich’s ataxia is an autosomal recessive disease due to a mutation in gene X25. This gene codes for frataxin and it is located on chromosome 9. The disease is caused by a triplet particular sequence of ...
Longitudinal Magnetic Resonance Imaging Study Shows Progressive Pyramidal And Callosal Damage In Friedreich's Ataxia
(John Wiley and Sons Inc., 2016)
Desarrollo de un sistema de cuantificación de frataxina humana para el diagnóstico complementario y seguimiento de individuos con Ataxia de Friedreich
(Asociación Bioquímica Argentina, 2018-09)
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 ...
Assessment of ataxia rating scales and cerebellar functional tests : critique and recommendations
(Wiley, 2020)
Background: We assessed the clinimetric
properties of ataxia rating scales and functional tests, and
made recommendations regarding their use.
Methods: A systematic literature search was conducted to
identify the ...
Teaching Video Neuro Images: Spastic ataxia syndrome
(2017)
A 24-year-old Chilean man with slowly progressive ataxia since age 2 presented with spastic ataxia, hyperreflexia, pes cavus, axonal polyneuropathy, incomplete right-bundle branch block on ECG, and impaired glucose tolerance ...
Ataxias heredodegenerativas
(Universidad del RosarioEspecialización en NeurologíaFacultad de Medicina, 2013)
NEURODEGENERATIVE DISEASES NAMED AS ATAXIA CONSTITUTES THE MOST COMMON PATHOLOGY INBETWEEN DEGENERATIVE DISEASES THAT AFFECT CEREBELLUM AND SPINE. THE PURPOSE OF THE SUBSEQUENT PAGES HAS TO BE WITH THE PATHOPHYSIOLOGY OF ...
Brain glyceraldehyde-3-phosphate dehydrogenase activity in human trinucleotide repeat disorders
(Amer Medical AssocChicagoEUA, 1998)
Chronic acquired sensory neuron diseases
(Wiley-blackwellMaldenEUA, 2008)
Teaching Video Neuro Images: Spastic ataxia syndrome
(Lippincott Williams, 2017-10)
A 24-year-old Chilean man with slowly progressive ataxia since age 2 presented with spastic ataxia, hyperreflexia, pes cavus, axonal polyneuropathy, incomplete right-bundle branch block on ECG, and impaired glucose tolerance ...