Results 1 to 10 of about 308,172 (351)
ATM deficiency results in accumulation of DNA-Topoisomerase I covalent intermediates in neural cells [PDF]
, 2013 Accumulation of peptide-linked DNA breaks contributes to neurodegeration in humans. This is typified by defects in tyrosyl DNA phosphodiesterase 1 (TDP1) and human hereditary ataxia.
Alagoz, Meryem +3 more
core +16 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
AMRC Open Research, 2023 Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the spectrum of symptoms associated with the various types of ataxia, and their progression over ...
Julie Greenfield +4 more
doaj +1 more source
Continuum, 2016 This article introduces the background and common etiologies of ataxia and provides a general approach to assessing and managing the patient with ataxia.Ataxia is a manifestation of a variety of disease processes, and an underlying etiology needs to be investigated.
Tetsuo, Ashizawa, Guangbin, Xia
openaire +2 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
AMRC Open Research, 2021 Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the symptom patterns associated with the various types of ataxia, and how these diseases progress
Julie Greenfield +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
Neurologic Clinics, 2015 Ataxia is a disorder of balance and coordination resulted from dysfunctions involving cerebellum and its afferent and efferent connections. While a variety of disorders can cause secondary ataxias, the list of genetic causes of ataxias is growing longer.
Umar, Akbar, Tetsuo, Ashizawa
openaire +2 more sources
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