Results 121 to 130 of about 5,562 (221)

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

A Case of Friedreich's Ataxia [PDF]

BMJ, 1902
openaire   +2 more sources

A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX. [PDF]

Cerebellum
Buchholz M, Monier V, Ewenczyk C, Heinzmann A, Pierron L, Sayah S, Hilab R, Atencio M, Petit E, Bertrand F, Vallancien A, Diot C, Rouillon S, Nadke A, Feldmann K, Maas V, Faber J, Sarwinska D, Boesch SM, Indelicato E, Bischoff AT, Klopstock T, Schulz JB, Reetz K, Fleszar Z, Iskandar A, Klockgether T, Grobe-Einsler M, Xie F, Humphries B, Michalowsky B, Durr A, Borel S.   +32 more
europepmc   +1 more source

Omaveloxolone for the Treatment of Friedreich Ataxia: Efficacy, Safety, and Future Perspectives

Omaveloxolone was recently approved by the U.S. Food and Drug Administration (FDA) as the designated treatment for Friedreich ataxia (FRDA),1 an autosomal recessive disorder caused by mutations in the frataxin gene.
Delatycki, MB, Lim, SY, Dottori, M, Corben, LA, Naghipour, S, Hulme, AJ, Lees, JG   +6 more
core   +1 more source

Listening in Spatialized Noise-Sentences (LiSN-S) as a Measure of Auditory Function in Friedreich Ataxia. [PDF]

Cerebellum
Ali SAH, Early J, Farmer JM, Gelbard S, Corben L, Rance G, Lynch DR.   +6 more
europepmc   +1 more source

Friedreich's ataxia mimicking hereditary motor and sensory neuropathy

, 2002
Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented.
Davaki, P., Panas, M., Vassilopoulos, D., Karadima, G., Kalfakis, N.   +4 more
core  

Exploring US patient and caregiver perspectives on burden associated with Friedreich Ataxia. [PDF]

J Patient Rep Outcomes
Lawson R, Natarajan S, Correll JR, Clark A, Martin ML, Bushnell DM, Setyawan J.   +6 more
europepmc   +1 more source

Nerve Ultrasound in Patients With Friedreich Ataxia. [PDF]

Muscle Nerve
Kneer K, Stahl JH, Winter N, Wittlinger J, Männlin S, Gasimli T, Schöls L, Fleszar Z, Hayer S, Grimm A.   +9 more
europepmc   +1 more source

Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia. [PDF]

Hum Mol Genet
Devore MC, Lam C, Wiley G, Park CC, Lynch DR, Bidichandani SI.   +5 more
europepmc   +1 more source

Friedreich\u27s ataxia presenting after cardiac transplantation

A 4 year old boy underwent cardiac transplantation because of cardiomyopathy with ischaemia. Following transplantation he developed neurological signs of Friedreich\u27s ataxia and the diagnosis was confirmed with genetic testing.
Forsyth R; Leonard H
core