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Journal of the Neurological Sciences, 2023 Friedreich ataxia is an autosomal recessive degenerative disease that primarily affects the nervous system and the heart. It is named after its original description as a "degenerative atrophy of the posterior columns of the spinal cord" by Nicholaus ...
Massimo Pandolfo
semanticscholar +9 more sources
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 +2 more sources
Purkinje Cell Signaling Deficits in Animal Models of Ataxia
Frontiers in Synaptic Neuroscience, 2018 Purkinje cell (PC) dysfunction or degeneration is the most frequent finding in animal models with ataxic symptoms. Mutations affecting intrinsic membrane properties can lead to ataxia by altering the firing rate of PCs or their firing pattern.
Eriola Hoxha +2 more
exaly +2 more sources
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
Development of SARAhome, a New Video‐Based Tool for the Assessment of Ataxia at Home
Movement Disorders, 2021 Clinical scales such as the Scale for the Assessment and Rating of Ataxia (SARA) cannot be used to study ataxia at home or to assess daily fluctuations.
M. Grobe-Einsler +8 more
semanticscholar +1 more source
GEO-Nav: a geometric dataset of voltage-gated sodium channels [PDF]
Computers & Graphics 115 (2023) 285-295, 2023 Voltage-gated sodium (Nav) channels constitute a prime target for drug design and discovery, given their implication in various diseases such as epilepsy, migraine and ataxia to name a few. In this regard, performing morphological analysis is a crucial step in comprehensively understanding their biological function and mechanism, as well as in ...
arxiv +1 more source
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment [PDF]
Brain - A Journal of Neurology , Oxford University Press (OUP),
2014, 137 (10), pp.2657-2663, 2020 Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report the identification of the causative gene in spinocerebellar ataxia 21, an autosomal-dominant disorder previously mapped to chromosome 7p21.3-p15.1.
arxiv +1 more source