Results 71 to 80 of about 6,264 (195)
Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia
eLife, 2017 Friedreich's ataxia (FRDA), the most common inherited ataxia, is caused by recessive mutations that reduce the levels of frataxin (FXN), a mitochondrial iron binding protein.
Vijayendran Chandran +6 more
doaj +1 more source
Sensors, 2020 The postural control assessments in patients with neurological diseases lack reliability and sensitivity to small changes in patient functionality. The appearance of pressure mapping has allowed quantitative evaluation of postural control in sitting ...
María Mercedes Reguera-García +3 more
doaj +1 more source
Frontiers in Neuroscience, 2021 Iron has been increasingly implicated in the pathology of neurodegenerative diseases. In the past decade, development of the new magnetic resonance imaging technique, quantitative susceptibility mapping (QSM), has enabled for the more comprehensive ...
Parsa Ravanfar +18 more
doaj +1 more source
Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients
Movement Disorders, EarlyView.Abstract Background Parkinsonism may be observed in multiple neurodegenerative diseases, including GRN‐associated frontotemporal dementia (FTD‐GRN), complicating the differential diagnosis of Parkinson's disease (PD). Objectives To investigate the presence of GRN variants in a large group of PD patients.
Christian A. Ganoza +31 more
wiley +1 more source
The Need for a Personal Assistant: My Case of an Unmet "BENEFIT" [PDF]
, 2000 Produced by The Center on Disability Studies, University of Hawai'i at Manoa, Honolulu, Hawai'i and The School of Social Sciences, The University of Texas at Dallas, Richardson, Texas for The Society for Disability ...
Ogami, Rachel
core
Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. [PDF]
, 2018 Transcriptional changes in Friedreich's ataxia (FRDA), a rare and debilitating recessive Mendelian neurodegenerative disorder, have been studied in affected but inaccessible tissues-such as dorsal root ganglia, sensory neurons and cerebellum-in animal ...
Coppola, Giovanni +11 more
core +1 more source
Multimodal Imaging Investigation of the Dentato‐Thalamo‐Cortical Pathway in Friedreich's Ataxia
Movement Disorders, EarlyView.Abstract Background Friedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato‐thalamo‐cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.
Yinghua Jing +22 more
wiley +1 more source
CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia. [PDF]
, 2020 Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in intron 1 of the frataxin (FXN) gene, leading to significant decreased expression of frataxin, a mitochondrial iron-binding protein.
Cherqui, Stephanie +7 more
core
Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort
Movement Disorders, EarlyView.Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije +26 more
wiley +1 more source
The current state of biomarker research for Friedreich's ataxia: a report from the 2018 FARA biomarker meeting [PDF]
, 2019 The 2018 FARA Biomarker Meeting highlighted the current state of development of biomarkers for Friedreich's ataxia. A mass spectroscopy assay to sensitively measure mature frataxin (reduction of which is the root cause of disease) is being developed ...
Blair, Ian A. +8 more
core +1 more source