Results 71 to 80 of about 3,355 (169)

Friedreich's Ataxia – A Clinical Diagnosis [PDF]

Journal of Krishna Institute of Medical Sciences University, 2015
Friedreich's ataxia (FA) is an autosomal recessive spinocerebellar degenerative disease characterized by hyperexpansion of GAA triplets in Frataxin gene.
Md. Fekarul Islam , Devdeep Mukherjee, Ritabrata Kundu , Joydeep Das   +3 more
doaj  

Friedreich ataxia [PDF]

BMJ, 2013
Peter, Gibilisco, Adam P, Vogel
openaire   +2 more sources

Friedreich’s Ataxia: A Neuronal Point of View on the Oxidative Stress Hypothesis

Antioxidants, 2014
A prominent feature of Friedreich’s ataxia (FRDA) is the neurodegeneration of the central and peripheral nervous systems, but little information is available about the mechanisms leading to neuronal damage in this pathology.
Barbara Carletti, Fiorella Piemonte
doaj   +1 more source

Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism

Nature Communications, 2019
The iron-sulfur cluster (ISC) assembly complex is activated by frataxin (FXN) and Friedreich’s ataxia is caused by FXN deficiency. Here the authors present the 3.2 Å resolution cryo-EM structure of the human frataxin bound ISC complex and discuss how FXN
Nicholas G. Fox, Xiaodi Yu, Xidong Feng, Henry J. Bailey, Alain Martelli, Joseph F. Nabhan, Claire Strain-Damerell, Christine Bulawa, Wyatt W. Yue, Seungil Han   +9 more
doaj   +1 more source

Friedreich’s Ataxia-A Case Report

Journal of Rawalpindi Medical College, 2018
Friedrich’s ataxia (FA) is an autosomal recessive disorder. It is the most common cause of inherited ataxia. It affects approximately 1-2 persons per 100,000 population.[i] It occurs due to a mutation that results in the homozygous expansion of Guanosine
Tahreem Muntaha, Saman Saleem, Sana Qurban, Mawra Noor   +3 more
doaj  

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

Friedreich's Ataxia

Atencion primaria, 2009
Robert J. Desnick, Orlando Guntinas-Lichius, George W. Padberg, Gustav Schonfeld, Xiaobo Lin, Maurizio Averna, Pin Yue, John-John B. Schnog, Victor E. A. Gerdes, Pedro R. Cutillas, Robert J. Unwin, Heike Schulze, Konrad Sandhoff, Jean-François Pellissier, Georges Serratrice, Dominique Figarella-Branger, Cord Sunderkötter, Marcelo Gustavo Binker, Laura Iris Cosen-Binker, Matthias Wettstein, Peter von den Driesch, Rima Nabbout, Massimo Mantegazza, Olivier Dulac, Johann Michael Schröder, Ho Sung Kang, Johann Michael Schröder, Marina Marchetti Hugo Ten Cate, Marina Marchetti, Hugo ten Cate, Lev I. Patrushev, Lee S. Weinstein, Adiba Isa, Fernando Azpiroz, Guang-Sheng Li, Ling Jing, Hui Xu, Anne M. Molloy, John M. Scott, Cord Sunderkötter, Axel Lorentz, Stephan C. Bischoff, Filippo Tamanini, Filippo Tamanini, Thomas Klockgether, Derek A. Wong, Jürgen Kopitz, Carolina von Reitzenstein, Michael Cantz   +48 more
openaire   +3 more sources

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

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