Results 31 to 40 of about 202,258 (245)

Neural substrates of motor and cognitive dysfunctions in SCA2 patients: A network based statistics analysis

NeuroImage: Clinical, 2017
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome, which can be isolated or associated with extracerebellar signs.
G. Olivito, M. Cercignani, M. Lupo, C. Iacobacci, S. Clausi, S. Romano, M. Masciullo, M. Molinari, M. Bozzali, M. Leggio   +9 more
doaj   +1 more source

Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients

Frontiers in Neurology, 2021
Background: Patients with suspected genetic ataxia are often tested for Friedreich's ataxia (FRDA) and/or a variety of spinocerebellar ataxias (SCAs). FRDA can present with atypical, late-onset forms and so may be missed in the diagnostic process.
Alexander F. Brown, Michael H. Parkinson, Hector Garcia-Moreno, Ese Mudanohwo, Robyn Labrum, Mary Sweeney, Paola Giunti   +6 more
doaj   +1 more source

Genetic screening for SACS, ABHD12 and PRICKLE1 mutations in ataxia patients from Southern Italy [PDF]

, 2011
Genetic screening for SACS, ABHD12 and PRICKLE1 mutations in ataxia patients from Southern Italy. INTRODUCTION Autosomal recessive (AR) spinocerebellar ataxias constitute a heterogeneous group of neurodegenerative disorders mainly characterized by ...
De Leva, Maria Fulvia
core   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing [PDF]

Ann Clin Transl Neurol
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Gonzalez Saez‐Diez E, Tam A, Carty S, Ferrer Socorro M, Yang K, Ebrahimi‐Fakhari D.   +5 more
europepmc   +2 more sources

Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich’s Ataxia Models

Frontiers in Cellular Neuroscience, 2018
Friedreich’s Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, affecting dorsal root ganglia (DRG), cerebellar dentate nuclei and heart. It is caused by a GAA repeat expansion mutation within the frataxin gene (FXN).
Rosella Abeti, Annalisa Baccaro, Noemi Esteras, Paola Giunti   +3 more
doaj   +1 more source

Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus [PDF]

, 2013
© 2013 Al-Mahdawi 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 are ...
Pook, MA, Sahar Al-Mahdawi, Mouro Pinto, R, Chiranjeevi Sandi, Sandi Chiranjeevi, Al-Mahdawi, S, Mouro Pinto Ricardo, Al-Mahdawi Sahar, Ricardo Mouro Pinto, Pook Mark A., Mark A Pook, Sandi, C   +11 more
core   +1 more source

Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich Ataxia [PDF]

, 2014
Copyright © 2014 Anjomani Virmouni 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 ...
Al-Mahdawi, S, Al-Mahdawi Sahar, Anjomani Virmouni Sara, Virmouni, SA, Sandi, C, Chiranjeevi S, Pook, MA, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sandi Chiranjeevi, Chiranjeevi Sandi (283956), Sara Anjomani Virmouni, Mark A. Pook (126056), Pook Mark A., Mark A. Pook, Sara Anjomani Virmouni (627000), Mark A Pook, Sahar Al-Mahdawi (126054)   +17 more
core   +1 more source

Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3 [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Li C, Ye Z, Chen X, Qiu L, Chen Z, Qiu Y, Lin W, Yuan R, Yu X, Huang C, Chen X, Lin M, Hu J, Chen W, Wang N, Yao S, Gan S, Fu Y.   +17 more
europepmc   +2 more sources

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

, 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

The Cerebellar Predictions for Social Interactions: Theory of Mind Abilities in Patients With Degenerative Cerebellar Atrophy

Frontiers in Cellular Neuroscience, 2019
Recent studies have focused on the role of the cerebellum in the social domain, including in Theory of Mind (ToM). ToM, or the “mentalizing” process, is the ability to attribute mental states, such as emotion, intentions and beliefs, to others to explain
Silvia Clausi, Silvia Clausi, Giusy Olivito, Giusy Olivito, Giusy Olivito, Michela Lupo, Libera Siciliano, Marco Bozzali, Maria Leggio, Maria Leggio   +9 more
doaj   +1 more source