Results 101 to 110 of about 5,562 (221)

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
doaj   +1 more source

Aspectos logopédicos prevalentes en la ataxia de Friedreich [PDF]

, 2021
La ataxia de Friedreich es la ataxia autosómica recesiva más común. Está provocada generalmente, por una expansión homocigótica del trinucleótido GAA en el intrón 1 del gen de la frataxina en el cromosoma 9q13.
Vega Fernández, Andrea
core  

E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia

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, Silvia Fortuni, Ivano Condò, Giulia Alfedi, Florence Malisan, Nicola Toschi, Dario Serio, Damiano Sergio Massaro, Gaetano Arcuri, Roberto Testi, Alessandra Rufini   +10 more
doaj   +1 more source

Performance of DNA synthesis-dependent repair in primary fibroblasts derived from Friedreich Ataxia patients

, 2023
reservedL’atassia di Friedreich (FRDA) è una malattia autosomica recessiva ed è la più comune atassia ereditaria, manifestandosi per la maggior parte dei casi durante l’adolescenza.
TERREVOLI, ONOFRIO DANIELE
core  

Quantitative investigations of FXN transcription and epigenetic modifications, including histone acetylation and methylation, in FRDA human and mouse tissues

, 2009
This thesis was submitted for the degree of Master of Philosophy and awarded by Brunel University.Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and, limb ataxia, cardiomayopathy ...
Trabzuni, Daniah M
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Resonancia Magnética Nuclear de cráneo en primeras familias cubanas diagnosticadas con ataxia de Friedreich

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, José Alberto Álvarez Cuesta, Raúl Aguilera Rodríguez, Luis Velázquez Pérez   +3 more
doaj  

Molecular genetics and pathogenesis of Friedreich ataxia.

, 1998
Friedreich ataxia, the most frequent cause of inherited ataxia, is due in most cases to a large expansion of an intronic GAA repeat, resulting in decreased expression of the target frataxin gene.
Pandolfo, Massimo, Massimo Pandolfo
core   +1 more source

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  

A case of Friedreich ataxia

, 2014
Friedreich ataxia is the commonest of the inherited ataxias, accounting for at least 50 % in most large series and affecting approximately one in 50,000 individuals 1.
G N Lucas, T G Y R Gunapala
core  

A REVIEW ON FRIEDREICH ATAXIA, A NEURODEGENERATIVE DISORDER

, 2014
The present report discusses about the clinical trial requirements for Friedreich ataxia disease such as inclusion and exclusion criteria for the patients,primary/secondary outcome measuresrequired for assessing the efficacy of therapies viarating scales,
SONI, DHRUVKUMAR MITESHKUMAR
core   +1 more source