Results 131 to 140 of about 4,540 (202)

Recent developments in Friedreich's ataxia: a state-of-the-art review. [PDF]

Brain Commun
Chapman LR, Mortiboys H, Shaw PJ.
europepmc   +1 more source

Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study. [PDF]

Lancet Reg Health Eur
Grobe-Einsler M, Borel S, Buchholz M, Sayah S, Hilab R, Pierron L, Iskandar A, Humphries B, Ewenczyk C, Heinzmann A, Atencio M, Feldmann K, Maas V, Faber J, Boesch S, Indelicato E, Reetz K, Schulz JB, Bischoff AT, Klopstock T, Schöls L, Minnerop M, Timmann D, Davies EH, Klockgether T, Durr A, Xie F, Michalowsky B.   +27 more
europepmc   +1 more source

Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study. [PDF]

Mov Disord
Lischewski SA, Dogan I, Giunti P, Parkinson MH, Mariotti C, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, de Rivera Garrido FJR, Schöls L, Fleszar Z, Klockgether T, Grobe-Einsler M, Giordano I, Rai M, Pandolfo M, Jacobi H, Hilgers RD, Schulz JB, Reetz K, EFACTS Study Group.   +23 more
europepmc   +1 more source

Active pyruvate dehydrogenase in platelets from Friedreich's ataxia patients.

, 1980
Pyruvate dehydrogenase (PDH) activity was measured in platelets from 10 patients with Friedreich's ataxia, and 10 age-matched healthy control subjects. Both total PDH and active PDH activity were measured.
A. Barbeau, R. F. Butterworth, FILLA, ALESSANDRO   +2 more
core  

Chemical modulation of Miro1 alleviates cell-type-specific vulnerabilities in Friedreich's ataxia. [PDF]

Cell Chem Biol
Chandra S, Kwak CS, Du Z, Barisano G, Nguyen KT, Vinogradov V, Wang X.   +6 more
europepmc   +1 more source

Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology. [PDF]

Mov Disord
Rummey C, Thomas-Black G, Garcia-Moreno H, Lynch DR, Abeti R, Arisoy H, Heslegrave A, Zetterberg H, Giunti P, European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).   +9 more
europepmc   +1 more source

Transcription and cohesin direct domain boundary spatial positioning and are linked to Friedreich's ataxia. [PDF]

Mol Cell
Karnay A, Linares-Saldana R, Wang Q, Gardner Z, Liang JA, Santini GT, Haridhasapavalan KK, Nguyen SC, Hugelier S, Shewale B, Kanemaki MT, Napierala JS, Napierala M, Wilson RB, Dubois N, Poleshko A, Kim W, Shah PP, Lakadamyali M, Joyce EF, Jain R.   +20 more
europepmc   +1 more source

Omaveloxolone, But Not Dimethyl Fumarate, Improves Cardiac Function in Friedreich's Ataxia Mice With Severe Cardiomyopathy. [PDF]

J Am Heart Assoc
Salinas L, Figueroa F, Montgomery CB, Thai PN, Chiamvimonvat N, Cortopassi G, Dedkova EN.   +6 more
europepmc   +1 more source

Friedreich's Ataxia-Health Index: Development and Validation of a Novel Disease-Specific Patient-Reported Outcome Measure. [PDF]

Neurol Clin Pract, 2023
Seabury J, Rosero S, Varma A, Weinstein J, Engebrecht C, Dilek N, Heatwole J, Alexandrou D, Cohen B, Larkindale J, Lynch DR, Park C, Subramony SH, Wagner E, Walther S, Wells M, Zizzi C, Heatwole C.   +17 more
europepmc   +1 more source

Development of a secretable frataxin for enhanced efficacy in treating Friedreich's Ataxia. [PDF]

Mol Ther Adv
DuBreuil DM, Fleming M, Parikh Y, Woo M, Bu J, Ayloo S, Langohr IM, Bangari DS, Mueller C, Ramachandran S.   +9 more
europepmc   +1 more source