Results 1 to 10 of about 153,533 (209)
Análisis de los antecedentes históricos del proceso de rehabilitación en pacientes hemipléjicos
Ciencia y Deporte, 2022 La rehabilitación del paciente hemipléjico se ha convertido en un importante problema médico – social; esta enfermedad es la tercera causa de muerte en el mundo desarrollado, así como la primera de invalidez en los adultos, por las secuelas motoras ...
Robiel Jesús Pozo Sánchez +2 more
doaj +5 more sources
Modulating mental state recognition by anodal tDCS over the cerebellum
Scientific Reports, 2022 Increasing evidence from neuroimaging and clinical studies has demonstrated cerebellar involvement in social cognition components, including the mentalizing process.
Silvia Clausi +4 more
doaj +1 more source
The attitude of patients with progressive ataxias towards clinical trials
Orphanet Journal of Rare Diseases, 2022 Background The development of new therapies may rely on the conduct of human experimentation as well as later clinical trials of therapeutic interventions.
Gilbert Thomas-Black +10 more
doaj +1 more source
A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeats
Frontiers in Neuroscience, 2023 IntroductionFriedreich’s ataxia (FRDA) is an inherited recessive neurodegenerative disorder caused by a homozygous guanine-adenine-adenine (GAA) repeat expansion within intron 1 of the FXN gene, which encodes the essential mitochondrial protein frataxin.
Ester Kalef-Ezra +10 more
doaj +1 more source
Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families
Molecular Genetics & Genomic Medicine, 2023 Background Giant axonal neuropathy (GAN) is a progressive childhood hereditary polyneuropathy that affects both the peripheral and central nervous systems.
Mahmoud Reza Ashrafi +9 more
doaj +1 more source
Patient pathways for rare diseases in Europe: ataxia as an example
Orphanet Journal of Rare Diseases, 2023 Background Progressive ataxias are rare and complex neurological disorders that represent a challenge for the clinicians to diagnose and manage them.
Julie Vallortigara +9 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2023 Background Little is known about the costs of treating ataxia and whether treatment at a specialist ataxia centre affects the cost of care. The aim of this study was to investigate whether patients who attended specialist ataxia centres in three European
Stephen Morris +9 more
doaj +1 more source
Guidelines on the diagnosis and management of the progressive ataxias
Orphanet Journal of Rare Diseases, 2019 The progressive ataxias are a group of rare and complicated neurological disorders, knowledge of which is often poor among healthcare professionals (HCPs). The patient support group Ataxia UK, recognising the lack of awareness of this group of conditions,
Rajith de Silva +6 more
doaj +1 more source
Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia
Tomography, 2021 Ocular abnormalities occur frequently in Friedreich’s ataxia (FRDA), although visual symptoms are not always reported. We evaluated a cohort of patients with FRDA to characterise the clinical phenotype and optic nerve findings as detected with optical ...
Petya Bogdanova-Mihaylova +6 more
doaj +1 more source
Ataxia telangiectasia: a review
Orphanet Journal of Rare Diseases, 2016 Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity.
Cynthia Rothblum-Oviatt +5 more
doaj +1 more source