A Case Report on Late-onset Friedrich's Ataxia and Response on Parkinsonism Treatment

Autor: Uma Datta Gupta, Tutul Chowdhury

Publikováno v: International Journal of Medical and Pharmaceutical Case Reports. :1-5

Friedrich's ataxia is a progressive neurodegenerative disease that affects the posterior cord of the spinal tract. We present a case of an 83-year-old male with resting tremor and rigidity that had gradually worsened over the past few years. The pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d6afb59dc0fc25e7cecc2efe6fb500a9
https://doi.org/10.9734/ijmpcr/2021/v14i330133

A new tool to determine the cellular metabolic landscape: nanotechnology to the study of Friedreich’s ataxia

Autor: Simone Dinarelli, Annalisa Pastore, Marco Girasole, Giovanni Longo, Tommaso Vannocci

Publikováno v: Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports
Scientific reports (Nature Publishing Group) 9 (2019). doi:10.1038/s41598-019-55799-z
info:cnr-pdr/source/autori:Vannocci, Tommaso; Dinarelli, Simone; Girasole, Marco; Pastore, Annalisa; Longo, Giovanni/titolo:A new tool to determine the cellular metabolic landscape: nanotechnology to the study of Friedreich's ataxia/doi:10.1038%2Fs41598-019-55799-z/rivista:Scientific reports (Nature Publishing Group)/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume:9
Vannocci, T, Dinarelli, S, Girasole, M, Pastore, A & Longo, G 2019, ' A new tool to determine the cellular metabolic landscape : nanotechnology to the study of Friedreich’s ataxia ', Scientific Reports, vol. 9, no. 1, 19282 . https://doi.org/10.1038/s41598-019-55799-z

Understanding the cell response to oxidative stress in disease is an important but difficult task. Here, we demonstrate the feasibility of using a nanomotion sensor to study the cellular metabolic landscape. This nanosensor permits the non-invasive r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e0efa073fd4242ff642cde48c7d9d4a
http://link.springer.com/article/10.1038/s41598-019-55799-z

P0222KIDNEY EFFECTS IN THE MOXIE TRIAL: A STUDY OF OMAVELOXOLONE IN PATIENTS WITH FRIEDRICH'S ATAXIA

Autor: Philippe Zaoui, Angie Goldsberry, Susan Perlman, David A. Lynch, S Subramony, Martin B. Delatycki, Megan O'Grady, Theresa A. Zesiewicz, Melanie Chin, Paola Giunti, Colin J. Meyer

Publikováno v: Nephrology Dialysis Transplantation. 35

Background and Aims Omaveloxolone, an Nrf2 activator, is an investigational drug that targets targets inflammation and mitochondrial dysfunction, metabolic, and bioenergetic pathways. Omaveloxolone is an analog of bardoxolone, methyl which has been s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::40bfae89a3c5e13e73c453f34e7238f8
https://doi.org/10.1093/ndt/gfaa142.p0222

Association of Friedrich’s Ataxia with Sacroilitis and Celiac Disease

Autor: Tülay Koca T

Publikováno v: Journal of Case Reports. :583-585

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::17bdc831483abb12c4ba3edd4f64e004
https://doi.org/10.17659/01.2016.0143

Analysis of Friedreich's ataxia patient clinical data reveals importance of accurate GAA repeat determination in disease prognosis and gender differences in cardiac measures

Autor: Xiaohui Liu, Paola Giunti, Annette M. Payne, Allan Tucker, Mohammadmersad Ghorbani, Michael H Parkinson, Françoise Pousset, David Gilbert, Stephen Swift

Publikováno v: Informatics in Medicine Unlocked, Vol 17, Iss, Pp-(2019)

Friedreich's ataxia (FRDA) is a rare autosomal recessive inherited neurodegenerative disease which is the result of a triplet repeat expansion in the intronic region of the frataxin FXN gene resulting in depleted frataxin protein expression. Disease

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db025f9cb9453a7e6a35c49dd94445f0
https://doi.org/10.1016/j.imu.2019.100266