نتایج جستجو برای: s ataxia
تعداد نتایج: 727569 فیلتر نتایج به سال:
Expansion of the polyglutamine (polyQ) tract in the huntingtin (Htt) protein causes Huntington's disease (HD), a fatal inherited movement disorder linked to neurodegeneration in the striatum and cortex. S-nitrosylation and S-acylation of cysteine residues regulate many functions of cytosolic proteins. We therefore used a resin-assisted capture approach to identify these modifications in Htt. In...
La Ataxia-Telangiectasia (AT) es una rara enfermedad de herencia autosómica recesiva y afección multisistémica, caracterizada por ataxia progresiva, inmunodeficiencia variable con infecciones recurrentes, riesgo incrementado neoplasias o sin telangiectasias óculo-cutáneas. AT causada variantes patogénicas bialélicas en el gen ATM. Su diagnóstico se basa la sospecha un cuadro clínico compatible,...
OBJECTIVE To assess the frequency and clinical features of different types of hereditary spinocerebellar ataxia in Hong Kong. DESIGN Cross-sectional study using a questionnaire and clinical examination, with the majority of the information retrospectively collected. SETTING Three regional hospitals, Hong Kong. PARTICIPANTS All patients with spinocerebellar ataxia that was confirmed by mol...
BACKGROUND Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance. It is mainly caused by dysfunction of the complex circuitry connecting the basal ganglia, cerebellum and cerebral cortex. A careful history, physical examination and some characteristic maneuvers are useful for the diagnosis of ataxia. Som...
OBJECTIVE To evaluate the presence of carriers of the fragile X premutation among male patients with sporadic ataxia without expansion into known spinocerebellar ataxia genes. DESIGN Clinical and genetic examinations were performed on patients with sporadic pure ataxia and patients with ataxia associated with extracerebellar features such as pyramidal and extrapyramidal signs, dementia, or pe...
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6 Kathrin Reetz, Ana S. Costa, Shahram Mirzazade, Anna Lehmann, Agnes Juzek, Maria Rakowicz, Romana Boguslawska, Ludger Schöls, Christoph Linnemann, Caterina Mariotti, Marina Grisoli, Alexandra Dürr, Bart P. van de Warrenburg, Dagmar Timmann, Massimo Pandolfo, Peter Bauer, Heike Jacob...
A 5 year old female child from a well-monitored, full term pregnancy with no specific history of ataxia, hypotonia and global developmental delay.
This scientific commentary refers to ‘Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia’, by Rebelo et al. (doi: 10.1093/brain/awab071).
Sucrose density gradient analysis of the fresh sera of patients with hereditary ataxia telangiectasia, disseminated lupus, and Waldenström's macroglobulinemia revealed the presence of an immunoglobulin possessing IgM determinants but having a sedimentation coefficient of approximately 7 S. Bio-Gel chromatography of patients' sera confirmed the presence of two distinct populations of IgM. The lo...
introduction: purkinje cell (pc) output displays a complex firing pattern consisting of high frequency sodium spikes and low frequency calcium spikes, and disruption in this firing behavior may contribute to cerebellar ataxia. riluzole, neuroprotective agent, has been demonstrated to have neuroprotective effects in cerebellar ataxia. here, the spectral analysis of pcs firing in control, 3-acety...
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