Results 121 to 130 of about 4,540 (202)

Cardiomyopathy in Friedreich's ataxia.

, 2011
Friedreich's ataxia (FRDA), an autosomal recessive disorder, is characterized by spinocerebellar degeneration and cardiomyopathy. Here we explore some of the putative mechanisms underlying the cardiomyopathy in FRDA that have been elucidated using ...
Pandolfo, Massimo, Rahman, Faisal
core  

Temporal and spatial variability in speakers with Parkinson's Disease and Friedreich's Ataxia

, 2008
Speech variability in groups of speakers with Parkinson's disease (PD) and with Friedreich's ataxia was compared with healthy controls. Speakers repeated the same phrase 20 times at one of two rates (fast or habitual).
Lowit, Anja, Howell, Peter, Anderson, Andrew   +2 more
core  

Cardiomyopathy in Friedreich’s Ataxia [PDF]

European Heart Journal, 2017
Pablo, Salazar, Raksha, Indorkar, Michael, Dietrich, Afshin, Farzaneh-Far   +3 more
openaire   +2 more sources

Friedreich's ataxia patient pathway in Europe. [PDF]

Front Health Serv
Vallortigara J, Greenfield J, Hunt B, Schuman BJ, Hoffman D, Booth S, Reinhard C, Graessner H, Federico A, Quoidbach V, Morris S, Giunti P.   +11 more
europepmc   +1 more source

A Case of Friedreich's Ataxia [PDF]

BMJ, 1902
openaire   +2 more sources

Advanced Heart Failure in Friedreich's Ataxia: A Story of Challenges, Opportunities, and Hope. [PDF]

JACC Case Rep
Miyashita S, Zaki A, Schlabach K, Kim G, Vierecke JK, Lynch D, Tan C, Hsich E, Alvarez P.   +8 more
europepmc   +1 more source

Serum and platelet lipoamide dehydrogenase in Friedreich's ataxia.

, 1978
Pyruvate dehydrogenase (PDH), alpha-keto glutarate dehydrogenase (alpha-KGDH) and lipoamide dehydrogenase (LAD) were measured in platelets of 11 patients with typical Friedreich's ataxia and 10 normal control subjects. Serum LAD was also evaluated in the
G. Geoffroy, B. Lemieux, A. Barbeau, R. F. Butterworth, FILLA, ALESSANDRO   +4 more
core  

Coexistence of Friedreich's Ataxia and Esophageal Cancer: A Case Report. [PDF]

Clin Case Rep
Mehrban A, Babamahmoodi A, Hamidian MT, Amiri B, Ramzani P, Karimi M.   +5 more
europepmc   +1 more source

Multimodal Imaging Investigation of the Dentato-Thalamo-Cortical Pathway in Friedreich's Ataxia. [PDF]

Mov Disord
Jing Y, Dogan I, Dadsena R, Faber J, Schulz JB, Reetz K, Romanzetti S, FACROSS study group.   +7 more
europepmc   +1 more source

Late onset recessive ataxia with Friedreich's disease phenotype.

, 1989
The Quebec Cooperative Study on Friedreich's ataxia required an onset before age 20 as an obligatory criterion of Friedreich's disease (FD). Harding included patients with onset before 25 years.
L. Trombetta, F. Santorelli, BARBIERI, FABRIZIO, DE MICHELE, GIUSEPPE, SANTORO, LUCIO, FILLA, ALESSANDRO, G. Campanella, A. Perretti   +7 more
core