Results 41 to 50 of about 9,290 (208)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel +8 more
wiley +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 +26 more
wiley +1 more source
Gene regulation and epigenotype in Friedreich's ataxia [PDF]
, 2008 Friedreich??????s ataxia (FRDA) is known to be provoked by an abnormal GAA-repeat expansion located in the first intron of the FXN gene. As a result of the GAA expansion, patients exhibit low levels of FXN mRNA, leading to FRDA.
Rothe, Nadine, Rothe, Nadine
core +2 more sources
Advanced Science, EarlyView.Hyperosmotic stress drives ferroptosis in corneal epithelium via SIRT1 downregulation. This work demonstrates that SIRT1 activation stabilizes HIF1α, which transcriptionally upregulates GPX4 to inhibit lipid peroxidation and cell death. The identified SIRT1/HIF1α/GPX4 axis reveals a novel defense mechanism and potential therapy for dry eye disease ...
Lili Lian +11 more
wiley +1 more source
Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?
Pharmaceuticals, 2018 Friedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the first intron of the frataxin gene.
David Alsina +3 more
doaj +1 more source
Noninvasive Focal Gene Delivery into the Cerebellum of Non‐Human Primates using Focused Ultrasound
Advanced Science, EarlyView.Focal and non‐invasive viral vector delivery in non‐human primates remains a major challenge in translational neuroscience. Low‐intensity focused ultrasound was used to transiently open the blood–brain barrier and enable targeted gene delivery to the cerebellum.
Noelia Esteban‐García +11 more
wiley +1 more source
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 +5 more
doaj +1 more source
Cardiovascular Research in Friedreich Ataxia
JACC: Basic to Translational Science, 2022 Summary: Friedreich Ataxia (FRDA) is an autosomal recessive disease in which a mitochondrial protein, frataxin, is severely decreased in its expression.
R. Mark Payne, MD
doaj +1 more source
Ataxia in children: early recognition and clinical evaluation [PDF]
, 2017 Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele +6 more
core +1 more source
RTA‐408 Enhances Radiosensitivity and Inhibited Tumor Progression via JNK Pathway in Glioblastoma
The Kaohsiung Journal of Medical Sciences, EarlyView.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 +6 more
wiley +1 more source