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Ataxias ARG

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Ataxias ARG

Información sobre ataxia para médicos, pacientes y toda la comunidad

17/08/2018

Genetic heterogeneity of hereditary cerebellar ataxias in Australia supports the use of next-generation sequencin approaches for individuals who were negative on repeat expansion testing.

Genetic testing strategies such as next-generation sequencing (NGS) panels and whole genome sequencing (WGS) can be applied to the hereditary cerebellar ataxias (HCAs), but their exact role in the...

15/08/2018

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar
.

Abstract. Autosomal recessive cerebellar ataxias are a group of rare disorders that share progressive degeneration of the cerebellum and associated tracts as t

13/08/2018

Repeated Mesenchymal Stromal Cell Treatment Sustainably Alleviates Machado-Joseph Disease.

Oliveira Miranda et al. show that repeated mesenchymal stromal cell (MSC) treatment, in opposition to a single treatment, sustainably ameliorates Machado-Joseph disease motor behavior and neuropathology, explaining recent clinical trial findings. Moreover, magnetic resonance spectroscopy biomarkers...

06/08/2018

Patients with Cerebellar Do Not Benefit from Limb Weights.

Patients with cerebellar ataxia are sometimes treated by the addition of mass to the limbs, though this practice has received limited study. Recent work suggests that adding mass to the limbs might...

03/08/2018

Predictors of survival in type 2 population from Southern Italy.

One hundred-eighteen spinocerebellar ataxia type 2 patients from 35 distinct families personally observed between 1973 and 2016 were retrospectively reviewed. The time point of data collection was 1...

02/08/2018

Ataxia Commercial - Baby and Me: This commercial tries to replicate what it would be like to have and shows that through jarring editing and sound design.
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A commercial I edited for the Kodak/Nahemi student commercial competition, more an experimental piece but I am very happy with the outcome. We have tried to ...

01/08/2018

Glutamate receptor δ2 serum antibodies in pediatric opsoclonus myoclonus syndrome: Autoantibodies to GluD2 are common, bind to surface determinants & are potentially pathogenic.

Objective To identify neuronal surface antibodies in opsoclonus myoclonus ataxia syndrome (OMAS) using contemporary antigen discovery methodology. Methods OMAS patient serum immunoglobulin G immunohistochemistry using age-equivalent rat cerebellar tissue was followed by immunoprecipitation, gel elec...

31/07/2018

Love your life with Friedreich Ataxia. A motivational video done by

Text in ENGLISH Text auf DEUTSCH (weiter unten) Texto escrito en ESPAÑOL (abajo) FRIEDREICH ATAXIA It isn’t easy to live with it … quite the contrary! I show...

31/07/2018

Teaching Video NeuroImages: Upward gaze palsy is a sign of ataxia type 3.

A 32-year-old woman presented with a 5-year history of ataxia, dysphagia, and dysarthria; family history was positive for spinocerebellar ataxia type 3 (SCA3). Examination revealed bulging eyes, upward gaze palsy with vertical nystagmus, bilateral horizontal nystagmus, slow saccades, dysmetria, and....

30/07/2018

Double-blind, randomized and controlled trial of EPI-743 in Friedreich's

Neurodegenerative Disease ManagementAhead of PrintResearch ArticleDouble-blind, randomized and controlled trial of EPI-743 in Friedreich's ataxiaTheresa Zesiewicz, Jason L Salemi, Susan Perlman, Kelly L Sullivan, Jessica D Shaw, Yangxin Huang, Charles Isaacs, Clifton Gooch, David R Lynch & Matthew B...

28/07/2018

Reto Deportivo Solidario: La Ataxia se mueve
Conoce mas de la para la ataxia de

▶️ El programa completo de 'El Desmarque' en: http://www.telemadrid.es/eldesmarque ▶️ Más vídeos en: http://www.telemadrid.es Álvaro y Marta, dos hermanos de...

27/07/2018

Astrocytes restore connectivity and synchronization in dysfunctional networks.

Within the long-standing debate of whether glial cells contribute to neuronal circuits, we provide evidence of the impact of astrocytes on the physiopathology and the structural–functional organization of cerebellar neuronal circuits derived from Atm-deficient mice. In vitro and adult mouse charac...

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