Results 111 to 120 of about 5,562 (221)

A study of the impact of rehabilitation on Friedreich ataxia

, 2018
Friedreich ataxia is a progressive, life shortening neurological disorder. Symptoms appear on average at 10 years of age and include poor arm and leg coordination and loss of mobility. Affected people require a wheel-chair around 15 years later.
SARAH CATHERINE MILNE (4978535)
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Caracterización epidemiológica, molecular y clínica de la ataxia de Friedreich en Cuba

, 2017
Se estudiaron 108 enfermos con ataxias recesivas o esporádicas y 277 individuos saludables que vivían en Cuba en el año 2011, con el objetivo de caracterizar el comportamiento epidemiológico, molecular y cl&
Cruz Mariño, Tania
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Tissue Iron in Friedreich Ataxia

Journal of Integrative Neuroscience
Heart, 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

OGTT is recommended for glucose homeostasis assessments in Friedreich ataxia.

, 2019
Diabetes is a common complication of Friedreich ataxia, requiring sensitive diagnostic methods. Here, we compared the performance of different tests that assess glucose tolerance, insulin sensitivity, and β-cell function in Friedreich ataxia patients ...
Kibanda, Jésabelle O., Fery, Françoise, Cnop, Miriam, Cosentino, Cristina, Azzi, Anne-Sophie   +4 more
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Epigenetic therapy for Friedreich ataxia.

, 2014
To investigate whether a histone deacetylase inhibitor (HDACi) would be effective in an in vitro model for the neurodegenerative disease Friedreich ataxia (FRDA) and to evaluate safety and surrogate markers of efficacy in a phase I clinical trial in ...
Loring, Jeanne F, Pandolfo, Massimo, De Mercanti, Stefania, Madara, Joseph C, Elisabetta Soragni, Wenyan Miao, James R. Rusche, Joel M. Gottesfeld, Antonio Piga, Campau, Erica, Clerico, Marinella, Piga, Antonio, Kristopher Nazor, Iudicello, Marco, Durelli, Luca, Filomena Longo, Erica Campau, Maximov, Anton, Massimo Pandolfo, Soragni, Elisabetta, Gottesfeld, Joel M, Ku, Sherman, Pablo Penalver, Joseph C. Madara, Du, Jintang, Anton Maximov, Penalver, Pablo, David Jacoby, Miao, Wenyan, Luca Durelli, Nazor, Kristopher, Jeanne F. Loring, Myriam Rai, Marco Iudicello, Sherman Ku, Melinda O'Connor, Rusche, James R, Jacoby, David, Marinella Clerico, Rai, Myriam, Stefania De Mercanti, O'Connor, Melinda, Longo, Filomena, Jintang Du   +43 more
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Molecular pathogenesis of Friedreich ataxia.

, 1999
Friedreich ataxia, the most common type of inherited ataxia, is itself caused in most cases by a large expansion of an intronic GAA repeat, resulting in decreased expression of the target frataxin gene.
Pandolfo, Massimo
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Ataxia de Friedreich

, 2023
Ataxia es un trastorno motor que se caracteriza por una falta de coordinación en la realización de movimientos voluntarios que altera su velocidad y precisión. Esta falta de coordinación afecta a la marcha, a las extremidades y al habla.
Trujillo Jurado, Katherin Zaira
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Very late-onset Friedreich ataxia: later than life expectancy?

, 2013
Very late-onset Friedreich ataxia: later than life ...
Arnold, Pierre, Alvarez, Vincent, Kuntzer, Thierry, Alvarez, V., Kuntzer, T., Arnold, P.   +5 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, Ana Luz Portelles Caminero, William Áreas Zalazar, Luís Velázquez Pérez   +3 more
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Pseudodominant Friedreich's ataxia with phenotypic heterogeneity

, 2007
Objective - A family with a clinically heterogeneous progressive ataxia in two generations is presented. Methods - Having eliminated mutations within the known dominant spinocerebellar ataxia genes, the family was investigated for expansion at the ...
Panas, M., Vassilopoulos, D., Kalfakis, N.   +2 more
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