Results 51 to 60 of about 4,301 (184)
Movement Disorders, EarlyView.Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard +33 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 +5 more
doaj
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
Prediction of the disease course in Friedreich ataxia
Scientific Reports, 2022 We explored whether disease severity of Friedreich ataxia can be predicted using data from clinical examinations. From the database of the European Friedreich Ataxia Consortium for Translational Studies (EFACTS) data from up to five examinations of 602 ...
Christian Hohenfeld +24 more
doaj +1 more source
Movement Disorders, EarlyView.Abstract Background SCA27B is a recently described ataxia, the precise anatomical basis of which remains unclear. Objective The goal was to characterize the structural brain and spinal cord magnetic resonance imaging (MRI) signature of spinocerebellar ataxia 27B (SCA27B) using multimodal quantitative imaging.
Nadson Bruno Serra Santos +19 more
wiley +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 +6 more
doaj
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data
Annals of Clinical and Translational NeurologyObjective 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 +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
Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia
Annals of Clinical and Translational Neurology, 2020 Dentate nuclei (DN) are involved in cerebellar modulation of motor and cognitive functions, whose impairment causes ataxia and cerebellar cognitive affective syndrome (CCAS).
Gilles Naeije +5 more
doaj +1 more source
Movement Disorders, EarlyView.Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux +11 more
wiley +1 more source