Results 71 to 80 of about 5,571 (197)

An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK

Movement Disorders Clinical Practice, EarlyView.
Zofia Fleszar, Gilbert Thomas‐Black, Hector Garcia‐Moreno, Arron Cook, Paola Giunti   +4 more
wiley   +1 more source

Ataxias esporádicas de início no adulto: um desafio diagnóstico [PDF]

, 2014
Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases,
Albuquerque, Marcus Vinicius Cristino De, Barsottini, Orlando Graziani Povoas, Braga Neto, Pedro, Pedroso, José Luiz   +3 more
core   +3 more sources

Delivery of the 135kb human frataxin genomic DNA locus gives rise to different frataxin isoforms [PDF]

, 2015
© 2015 Elsevier Inc. Friedreich's ataxia (FRDA) is the most common form of hereditary ataxia caused by recessive mutations in the FXN gene. Recent results have indicated the presence of different frataxin isoforms due to alternative gene expression ...
Díaz-Nido, Javier, Fernández-Frias, I., Giménez-Cassina, Alfredo, Pérez-Luz, S., Wade-Martins, R.   +4 more
core   +1 more source

Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
Whole‐exome sequencing candidate CLIC5 and NEFM for cerebellar ataxia (CA) onset. In vivo studies exclude CLIC5, while in silico analysis and literature review support NEFM as a candidate gene for CA. These findings could be useful for advancing the genetic diagnosis of hereditary pure CA. Created in https://BioRender.com.
Paolo Enrico Maltese, Gabriele Bonetti, Elena Manara, Benedetta Tanzi, Andrea Bernini, Mark A. Berryman, Soichi Tanda, Corinne Nielsen, Silvia Casagrande, Amanda Ferrero, Salvatore Stano, Riccardo Zuccarino, Andrea Barp, Pietro Chiurazzi, Matteo Bertelli   +14 more
wiley   +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 ...
Ghorbani, M, Payne, A, Pook, MA, Taylor, SJE   +3 more
core   +4 more sources

Fisiopatología de la ataxia de Friedreich: Transporte y degeneración axonal.

, 2017
Friedreich ataxia (FRDA) is a recessive human disease of central and peripheral nervous system that affects children and young adults. FRDA is a peripheral neuropathy characterized by a initial degeneration of the large neurons of the dorsal root ganglia (DRG) or proprioceptive neurons.
openaire   +2 more sources

Atividade elétrica muscular em paciente com ataxia de Friedreich – estudo de caso

Revista FisiSenectus, 2015
Introdução: a Ataxia de Friedreich é uma doença neurodegenerativa progressiva, de herança autossômica recessiva, e com início precoce. A manifestação predominante é a incoordenação motora ocasionada devido o acometimento do cerebelo. Objetivos: este estudo tem como objetivo verificar se há diferença na atividade elétrica muscular do deltoide e tríceps ...
Biasi, Iassana, Gava, Miriane, Kaminski, Josilene S. Conceição, Fiório, Franciane Barbieri   +3 more
openaire   +3 more sources

Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA [PDF]

, 2016
Friedreich’s ataxia (FRDA), a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy, is caused by silencing of the frataxin (FXN) gene encoding the mitochondrial protein involved in iron-sulfur cluster biosynthesis. We
Ho, SL, Ho, WL, Lai, KWH, Lau, VYM, Lee, YK, Ng, KM, Siu, DCW, Tse, HF   +7 more
core   +1 more source

Ataxia hereditária progressiva: caso de ataxia de friedreich em irmãos acompanhados na reabilitação pediátrica

Acta Fisiátrica
A Ataxia de Friedreich (AF) é uma doença genética rara, neurodegenerativa, de difícil diagnóstico e sem tratamento específico. Trata-se de uma ataxia espinocerebelar hereditária autossômica recessiva, que afeta múltiplos sistemas, como sistema nervoso central e periférico, sistema musculoesquelético, endócrino e cardiovascular.
Marcos Matheus da Silva Fonseca, Caio Henrique Gasparotto Nogueira, Samuel Fen I Chen, Amanda Rie Tachibana, Eduardo Hideyuki Akamine   +4 more
openaire   +1 more source

Spongionella secondary metabolites protect mitochondrial function in cortical neurons against oxidative stress [PDF]

, 2014
Accepted: 8 January 2014 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 cited. Acknowledgments
Alfonso, Amparo, Alonso, Eva, Botana, Luis M, Ebel, Rainer, Houssen, Wael E, Jaspars, Marcel, Leirós, Marta, Rateb, Mostafa E, Rateb, Mostafa Ezzat Mohamed, Sánchez, Jon A   +9 more
core   +4 more sources