Results 71 to 80 of about 5,562 (221)

Ataxia due to vitamin E deficiency: A case report and updated review

Clinical Case Reports, 2022
Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in developing countries with unknown prevalence. AVED is an autosomal‐recessive disorder, which is characterized by ataxia, areflexia, and proprioceptive and vibratory sensory ...
Sangharsha Thapa, Sangam Shah, Swati Chand, Sanjit Kumar Sah, Pawan Gyawali, Sandip Paudel, Pitambar Khanal   +6 more
doaj   +1 more source

RTA‐408 Enhances Radiosensitivity and Inhibited Tumor Progression via JNK Pathway in Glioblastoma

The Kaohsiung Journal of Medical Sciences, Volume 42, Issue 6, June 2026.
ABSTRACT Glioblastoma (GBM) is an aggressive brain tumor with poor prognosis owing to its high invasiveness and resistance to therapy. RTA‐408, a synthetic triterpenoid and nuclear factor erythroid 2‐related factor 2 activator, exhibits anti‐inflammatory and anti‐cancer properties; however, its effects on GBM remain unclear. This study investigated the
Hung‐Pei Tsai, Hao Qin, Yoon Bin Chong, I‐Hsiang Chen, Shih‐Hsun Kuo, Tzu‐Ting Tseng, Ann‐Shung Lieu   +6 more
wiley   +1 more source

Genotype and phenotype characterisation of Friedreich ataxia mouse models and cells [PDF]

, 2013
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel UniversityFriedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, caused by a GAA repeat expansion mutation within intron 1 of the FXN gene ...
Anjomani Virmouni, Sara
core  

Friedreich ataxia in Norway - An epidemiological, molecular and clinical study Rare neurological diseases [PDF]

, 2015
Background: Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and skeletal deformities.
Tallaksen, Chantal M, Berge, Tone, Torunn Fiskerstrand, Selmer, Kaja Kristine, Wedding, Iselin M, Kaja Kristine Selmer, Per Morten Knappskog, Knappskog, Per, Selmer, Kaja K, Chantal ME Tallaksen, Tallaksen, Chantal, Wedding, Iselin Marie, Sandra Pilar Henriksen, Tone Berge, Kroken, Mette, Knappskog, Per M, Mette Kroken, Henriksen, Sandra Pilar, Henriksen, Sandra P, Iselin Marie Wedding, Fiskerstrand, Torunn   +20 more
core   +1 more source

Ataxia with vitamin E deficiency associated with deafness

The Turkish Journal of Pediatrics, 2008
Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive disorder, usually with a phenotype resembling Friedreich ataxia, caused by selective impairment of gastrointestinal vitamin E absorption.
Bülent Kara, Abdullah Uzümcü, Oya Uyguner, Rasim Ozgür Rosti, Ayça Koçbaş, Meral Ozmen, Hülya Kayserili   +6 more
doaj  

Genetics of Friedreich Ataxia

Pediatric Neurology Briefs, 1997
Genotype-phenotype correlations in a group of 100 patients with typical Friedreich ataxia (FRDA), and in three smaller clinically atypical groups (Arcadian FRDA, late-onset FRDA (LOFA), and FRDA with retained reflexes (FARR)), were studied at the Centre ...
J Gordon Millichap
doaj   +1 more source

Unveiling the Power of Deuterium in Drug Discovery: A Comprehensive Overview

MedComm, Volume 7, Issue 6, June 2026.
The role of deuterium replacement in drug discovery, its progress, opportunities, and challenges. ABSTRACT Deuterium, the heavy isotope of hydrogen, has unfolded as a cornerstone in modern drug discovery due to its potential to influence metabolic stability and pharmacokinetic behavior.
Mukta Lele, Ajit Manchare, Swapnali Parit, Amol D. Gholap, Krishna Jadhav, Navnath Hatvate, Keshav Raj Paudel, Satish Rojekar   +7 more
wiley   +1 more source

Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues

, 2012
Copyright @ 2012 Bourn et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source ...
De Biase, I, Al-Mahdawi, S, De Biase Irene, Al-Mahdawi Sahar, Pinto Ricardo Mouro, Sandi, C, Pook, MA, Pinto, RM, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sandi Chiranjeevi, Sanjay I Bidichandani, Bourn Rebecka L., Bidichandani, S, Irene De Biase, Bourn, RL, Ricardo Mouro Pinto, Pook Mark A., Rebecka L Bourn, Bidichandani Sanjay I., Mark A Pook   +20 more
core   +1 more source

Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data

Annals of Clinical and Translational Neurology
Objective The natural history of Friedreich ataxia is being investigated in a multi‐center longitudinal study designated the Friedreich ataxia Clinical Outcome Measures Study (FACOMS).
David R. Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Lisa Weissfeld, Colin Meyer   +16 more
doaj   +1 more source

Long-Term Follow-Up of Friedreich Ataxia Patients

Pediatric Neurology Briefs, 2007
The results of a long-term prospective follow-up of 104 Friedreich ataxia patients are reported from the Salpetriere Hospital, Paris, and other centers in France.
J Gordon Millichap
doaj   +1 more source