Results 41 to 50 of about 4,355 (175)

Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases

Orphanet Journal of Rare Diseases, 2018
Background Rare diseases are a global public health concern, affecting an estimated 350 million individuals. Only 5% of approximately 7000 known rare diseases have a treatment, and only about half have a patient advocacy organization.
Susan Stein, Elizabeth Bogard, Nicole Boice, Vivian Fernandez, Tessa Field, Alan Gilstrap, Susan R. Kahn, Jane Larkindale, Toni Mathieson   +8 more
doaj   +1 more source

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

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, Gurung, Bimal, Mak, Suet, Lieu, Deborah, Costa, Kevin, Chan, Camie, Martelli, Alain, Nabhan, Joseph, Li, Ronald   +12 more
openaire   +1 more source

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

Comparative (computational) analysis of the DNA methylation status of trinucleotide repeat expansion diseases [PDF]

, 2013
Copyright © 2013 Mohammadmersad Ghorbani 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 ...
Pook, MA, Simon J. E. Taylor, Mohammadmersad Ghorbani, Ghorbani, M, Annette Payne, Taylor, SJE, Mark A. Pook, Payne, A   +7 more
core   +1 more source

Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia

, 2012
This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose.
Xiaoman Dai (126050), Ran Mo (126053), Tracey A. Rouault (126059), Al-Mahdawi Sahar, Yun Cao, Kuanyu Li, Di Zhou, Al-Mahdawi, Sahar, Leimkühler, Silke (Prof. Dr.), Tracey A Rouault, Mark A Pook, Dai, Xiaoman, Haiyan Xia, Zhou, D, Di Zhou (126052), Zhou Di, Pook, Mark A., Mo, R, Mo, Ran, Rouault, Tracey A., Cao Yun, Mo Ran, Sahar Al-Mahdawi, Haiyan Xia (126049), Pook Mark A., Silke Leimkühler (126058), Marelja Zvonimir, Cao, Yun, Xiaoman Dai, Zvonimir Marelja (126051), Rouault Tracey A., Li, K, Leimkühler, S, Cao, Y, Kuanyu Li (126061), Silke Leimkühler, Pook, MA, Li, Kuanyu, Xia, Haiyan, Mark A. Pook (126056), Zvonimir Marelja, Sahar Al-Mahdawi (126054), Dai Xiaoman, Marelja, Z, Al-Mahdawi, S, Dai, X, Xia Haiyan, Zhou, Di, Ran Mo, Marelja, Zvonimir, Rouault, TA, Xia, H, Yun Cao (111731), Li Kuanyu, Leimkühler Silke   +54 more
core   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1

Communications Biology
Cisplatin and oxaliplatin cause the secretion of high mobility group box 1 (HMGB1) protein from cancer cells, which is necessary for initiation of immunogenic cell death (ICD). Calreticulin (CRT) translocation from the endoplasmic reticulum to the plasma
Jingqi Fan, Kevin P. Gillespie, Clementina Mesaros, Ian A. Blair   +3 more
doaj   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source