Results 71 to 80 of about 3,973 (174)
Resúmenes de los trabajos sobre la atrofia espinocerebelosa
Medisur, 2010 Cuba presenta la mayor prevalencia mundial de Ataxia Espinocerebelosa Tipo 2, con más de 8000 individuos en riesgo de haber heredado la enfermedad, por lo cual el desarrollo de investigaciones y proyectos de investigación para investigar y seguir las ...
Congreso Nacional de Neurolog'ia
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Neurobiology of DiseaseFriedreich ataxia is a hereditary neurodegenerative disorder resulting from reduced levels of the protein frataxin due to an expanded GAA repeat in the FXN gene.
Andrés Vicente-Acosta +6 more
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Arquivos de Neuro-Psiquiatria, 1999 Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene.
IDA V.D. SCHWARTZ +5 more
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An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK
Movement Disorders Clinical Practice, EarlyView.
Zofia Fleszar +4 more
wiley +1 more source
Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases
Advanced Science, Volume 13, Issue 11, 23 February 2026.Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh +17 more
wiley +1 more source
Ataxia heredo-degenerativa associada a hipoacusia
Arquivos de Neuro-Psiquiatria, 1964 São estudados três irmãos, respectivamente com 16, 8 e 6 anos de idade, todos do sexo masculino, com ataxia heredo-degenerativa associada, em dois dêles, a hipoacusia. Nos antecedentes há referência a moléstia semelhante em um avô e um tio-avô.
José Antonio Levy, Ehrenfried O. Wittig
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Cell Reports, 2017 Friedreich ataxia (FRDA) is a severe genetic neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. To date, there is no therapy to treat this condition.
Monica Benini +10 more
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Epigenetic-based therapies for Friedreich ataxia
Frontiers in Genetics, 2014 Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA repeat expansion mutation within the first intron of the FXN gene, leading to inhibition of FXN transcription and thus reduced ...
Chiranjeevi eSandi +5 more
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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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