Results 1 to 10 of about 5,571 (197)

Cardiopatía dilatada en ataxia de Friedreich: El punto sin retorno

Revista Colombiana de Cardiología, 2012
Las cardiopatías infiltrativas se caracterizan por el depósito de sustancias en el miocardio que causan un impacto negativo en la arquitectura de la pared ventricular.
Luis E. Silva, MD, Leidy P. Prada, MD, Hugo Páez, MD, Andrés F. Buitrago, MD, Carlos Franco, MD, Robinson Sánchez, MD, Iván Rendón, MD   +6 more
doaj   +4 more sources

The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study. [PDF]

Mov Disord
Abstract Background Neuropsychological deficits have been observed in patients with cerebellar damage, but never thoroughly investigated in autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS). Objectives The goal is the characterization of presence, severity, and profile of neuropsychological deficits in ARSACS using the cerebellar ...
Fortin J, Synofzik M, Pedneault-Tremblay ÉA, Hermle D, Thieme A, Timmann D, La Piana R, Brais B, Dolbec J, Côté I, Gagnon C, Traschütz A.   +11 more
europepmc   +2 more sources

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort. [PDF]

Mov Disord
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
van Prooije TH, Pennings M, Maas RPPWM, de Vries J, Verschuuren-Bemelmans C, Odekerken V, Darweesh SKL, Huisman M, Oosterloo M, Buijink A, van de Wardt J, Vanhoutte E, Wong TH, Koens L, de Boer E, van Gaalen J, Beudel M, Roos DS, Hoff JI, Cornelissen T, Schouten M, Gardeichik T, van der Looij E, Klein C, Trinh J, Kamsteeg EJ, van de Warrenburg B.   +26 more
europepmc   +2 more sources

FXN promoter silencing in the humanized mouse model of Friedreich Ataxia [PDF]

, 2015
Background - Friedreich ataxia is caused by an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene that results in epigenetic silencing of the FXN promoter.
Bidichandani, SI, Chutake, YK, Costello, WN, Hughes, TT, Lam, CC, Michalopulos, MG, Parikh, AC, Pook, MA   +7 more
core   +29 more sources

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia Avaliação clínica e molecular de cinco pacientes brasileiros com ataxia de Friedreich

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, LAURA B. JARDIM, ANA C.S. PUGA, SÉRGIO COCOZZA, SANDRA LEISTNER, LUCIANE C. LIMA   +5 more
doaj   +2 more sources

Ataxia de friedreich e diabetes mellitus. Estudo de uma Família.

Acta Médica Portuguesa, 2005
Friedreich's ataxia (FA) is one of the genetic syndromes sometimes associated with diabetes and the most common hereditary ataxia. It is a autosomal recessive neurodegenerative disease, caused by a mutation in the FRDA gene, which originates decreased ...
Miguel Melo, Ana Fagulha, Luisa Barros, Joana Guimarães, Francisco Carrilho, Manuela Carvalheiro   +5 more
doaj   +3 more sources

Análisis molecular en pacientes colombianos con Ataxia de Friedreich

Acta Biológica Colombiana, 2001
Identificar entre los pacientes que sufren algún tipo de ataxia hereditaria, las formas progresivas tipo Friedreich (FRDA), determinando el tipo de herencia y correlacionar el genotipo encontrado con las manifestaciones genonpicas.
C. Durán, M. Gómez, O. Pedraza, J.C. Prieto   +3 more
doaj   +3 more sources

[Friedreich's ataxia]. [PDF]

Aten Primaria, 2009
Ortiz Uriarte R, García Ribes M, Gutiérrez VM, Sorlí JV, Valderrama Zurián FJ, Mingarro Castillo MM, Ejarque Domènech I.   +6 more
europepmc   +2 more sources

ATAXIA DE FRIEDREICH: RELATO DE UM CASO COM MANIFESTAÇÃO TARDIA

Arquivos de Ciências da Saúde da UNIPAR, 2011
A Ataxia de Friedreich é uma doença neurodegenerativa progressiva, de herança autossômica recessiva, que foi descrita pela primeira vez por Nicholaus Friedreich, em 1863.
Daniela Carvalho Cardozo, Flávio Augusto Vicente Seixas   +1 more
doaj   +1 more source

Cardiopatía dilatada en ataxia de Friedreich: el punto sin retorno Dilated cardiomyopathy in Friedreich's ataxia: point of no return

Revista Colombiana de Cardiología, 2012
Las cardiopatías infiltrativas se caracterizan por el depósito de sustancias en el miocardio que causan un impacto negativo en la arquitectura de la pared ventricular.
Luis E Silva, Leidy P Prada, Hugo Páez, Andrés F Buitrago, Carlos Franco, Robinson Sánchez, Iván Rendón   +6 more
doaj   +1 more source