Results 31 to 40 of about 7,170 (177)

The smoothened agonist SAG reduces mitochondrial dysfunction and neurotoxicity of frataxin-deficient astrocytes

Journal of Neuroinflammation, 2022
Background Friedreich’s ataxia is a rare hereditary neurodegenerative disease caused by decreased levels of the mitochondrial protein frataxin. Similar to other neurodegenerative pathologies, previous studies suggested that astrocytes might contribute to
Andrés Vicente-Acosta, Alfredo Giménez-Cassina, Javier Díaz-Nido, Frida Loria   +3 more
doaj   +1 more source

Epigenetics and triplet-repeat neurological diseases [PDF]

, 2015
The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
core   +2 more sources

Test–retest reliability of the Friedreich’s ataxia rating scale

Annals of Clinical and Translational Neurology, 2020
The modified Friedreich Ataxia Rating Scale (mFARS) is a disease specific, exam‐based neurological rating scale commonly used as a outcome measure in clinical trials.
Christian Rummey, Theresa A. Zesiewicz, Santiago Perez‐Lloret, Jennifer M. Farmer, Massimo Pandolfo, David R. Lynch   +5 more
doaj   +1 more source

Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives: a cross-sectional study [version 1; peer review: 1 approved, 2 approved with reservations]

AMRC Open Research, 2021
Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the symptom patterns associated with the various types of ataxia, and how these diseases progress
Julie Greenfield, Anja Lowit, Ruby Wallis, Emily Cutting, Marios Hadjivassiliou   +4 more
doaj   +1 more source

Additional file 1: of Correlation between frataxin expression and contractility revealed by in vitro Friedreichâ s ataxia cardiac tissue models engineered from human pluripotent stem cells

, 2019
Figure S1. Percentage yield of cardiomyocytes differentiated from various hESC and hiPSC cell lines. Table S1. Electrophysiological parameters of hvCAS. (PDF 145 kb)
Wong, Andy, Wong, Gabriel, Shen, Michael, Chow, Maggie, Tse, Wan, Bimal Gurung, Suet Mak, Lieu, Deborah, Costa, Kevin, Camie Chan, Martelli, Alain, Nabhan, Joseph, Li, Ronald   +12 more
openaire   +1 more source

Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy [PDF]

, 2013
Copyright © 2013 Chiranjeevi Sandi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly ...
Al-Mahdawi, S, Pook, MA, Sandi, C
core   +2 more sources

Epigenetic-based therapies for Friedreich ataxia [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA repeat expansion mutation within the first intron
Chiranjeevi eSandi, Chiranjeevi eSandi, Madhavi eSandi, Mark Adrian Pook, Sahar eAl-Mahdawi, Sara eAnjomani-Virmouni   +5 more
core   +2 more sources

Late-Onset Friedreich’s Ataxia

Pediatric Neurology Briefs, 1993
Three adult patients from one family with late-onset Friedreich’s ataxia (LOFA) presenting after 25 years (mean age, 30 yrs) were compared with 13 children with classical FA presenting before 20 years (mean age, 13 yrs) and reported from the University ...
J Gordon Millichap
doaj   +1 more source

Life-Threatening Adverse Reaction after Self-Initiated, Off-Label Use of High Dose Nicotinamide for the Treatment of Friedreich’s Ataxia

European Journal of Case Reports in Internal Medicine, 2015
A 40-year old woman, previously known for Friedreich’s ataxia, presented with shock, profound lactic acidosis and hepatic failure after ingestion of a high dose of nicotinamide, the amide form of vitamin B3.
Nicolas Garin, Pierre Arnold
doaj   +1 more source

In vivo imaging of pyrrole-imidazole polyamides with positron emission tomography [PDF]

, 2008
The biodistribution profiles in mice of two pyrrole-imidazole polyamides were determined by PET. Pyrrole-imidazole polyamides are a class of small molecules that can be programmed to bind a broad repertoire of DNA sequences, disrupt transcription factor ...
Bergstr  m, Burns, Chou, D. A. Harki, D. B. Stout, Dervan, Dervan, Dudouet, Edelson, Gross, Harapanhalli, Hsu, K  hnast, Lee, Lendvai, M. E. Phelps, N. Satyamurthy, P. B. Dervan, Phelps, Phelps, Poethko, Puckett, Roivainen, Schottelius, Tavitian, Toyokuni, Trauger   +26 more
core   +3 more sources