Results 61 to 70 of about 5,562 (221)

Friedreich’s Ataxia: dance and somatic education a case report

Motriz: Revista de Educacao Fisica, 2018
This research aims to determine the effects of a dance program in dialogue with somatic education in psychomotor aspects in a subject with Friedreich ataxia.
Fanny Aparecida Condé Teixeira, Bianca Christian Medeiros Sales, Elizângela Fernandes Ferreira, Elisa Almeida Costa, Luana Neves Damasceno, Eveline Torres Pereira   +5 more
doaj   +1 more source

Drug Repositioning in Friedreich Ataxia

Frontiers in Neuroscience, 2022
Friedreich ataxia is a rare neurodegenerative disorder caused by insufficient levels of the essential mitochondrial protein frataxin. It is a severely debilitating disease that significantly impacts the quality of life of affected patients and reduces ...
Alessandra Rufini, Alessandra Rufini, Alessandra Rufini, Florence Malisan, Ivano Condò, Roberto Testi, Roberto Testi   +6 more
doaj   +1 more source

Technologies for engineering repetitive DNA

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley   +1 more source

Pharmacological Activation of NRF2 by Omaveloxolone Upregulates NRF2‐Target Proteins in SMA Type I Human Fibroblasts

The FASEB Journal, Volume 40, Issue 12, 30 June 2026.
SMA type I patient‐derived fibroblasts exhibit reduced basal NRF2 pathway output, reflected by decreased NQO1, xCT, and PGC1α. Pharmacological NRF2 activation with omaveloxolone (OMAV) increases cell viability and induces NRF2 target proteins in both control and SMA fibroblasts.
Sofia Vrettou, Sebastian Zetzsche, Brunhilde Wirth   +2 more
wiley   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1106-1117, June 2026.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Altered Secretome and ROS Production in Olfactory Mucosa Stem Cells Derived from Friedreich’s Ataxia Patients [PDF]

, 2020
© 2020 by the authors.Friedreich’s ataxia is the most common hereditary ataxia for which there is no cure or approved treatment at present. However, therapeutic developments based on the understanding of pathological mechanisms underlying the disease ...
Daniel Oberdoerfer, Yang, Oscar-Li, Oscar-Li Yang, José Luis Muñoz-Blanco, Loría, Frida, Katsu-Jiménez, Yurika, Yang, Oscar Li, Pérez Luz, Sara, Sara Pérez-Luz, Yurika Katsu-Jiménez, Muñoz-Blanco, José Luis, Lim, Filip, Pérez-Luz, Sara, Díaz Nido, Javier, Javier Díaz-Nido, Filip Lim, Oberdoerfer, Daniel, Díaz-Nido, Javier, Muñoz-Blanco, José Luis, Frida Loria   +19 more
core   +1 more source

Perspectives of the Friedreich ataxia community on gene therapy clinical trials

Molecular Therapy: Methods & Clinical Development
Gene therapy is a potential treatment for Friedreich ataxia, with multiple programs on the horizon. The purpose of this study was to collect opinions about gene therapy from individuals 14 years or older with Friedreich ataxia or parents/caregivers of ...
Shandra J. Trantham, Mackenzi A. Coker, Samantha Norman, Emma Crowley, Julie Berthy, Barry J. Byrne, Sub Subramony, XiangYang Lou, Manuela Corti   +8 more
doaj   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1154-1159, June 2026.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

Pharmacokinetics and pharmacodynamics of the novel Nrf2 activator omaveloxolone in primates

Drug Design, Development and Therapy, 2019
Scott A Reisman, Sarabjit S Gahir, Chun-Yue I Lee, Joel W Proksch, Mitsumasa Sakamoto, Keith W Ward Reata Pharmaceuticals, Inc., Irving, TX 75063, USA Background: Omaveloxolone is a synthetic oleanane triterpenoid that pharmacologically activates Nrf2,
Reisman SA, Gahir SS, Lee CY, Proksch JW, Sakamoto M, Ward KW   +5 more
doaj  

Ataxias cerebelares hereditárias: do martelo ao gen Hereditary cerebellar ataxias from neurological hammer to genetics

Arquivos de Neuro-Psiquiatria, 1997
As heredoataxias constituem grupo complexo de doenças neurodegenerativas hereditárias, para o qual várias formas de classificação clínica e patológica foram propostas com sucesso variável.
Walter Oleschko Arruda, Hélio A. Ghizoni Teive   +1 more
doaj   +1 more source