Results 51 to 60 of about 3,314 (74)

Achados estruturais da retina e do nervo óptico nas ataxias espinocerebelares tipos 2, 3 e 7

open access: yes
Introdução: As Ataxias Espinocerebelares (SCAs) são doenças neurodegenerativas raras, cujo mecanismo genético mais comum é a expansão da trinca de nucleotídeos Citosina-Adenina-Guanina (CAG) nos genes da ataxina (ATXN), transmitida de forma autossômica ...
Marianelli, Bruna Ferraço [UNIFESP]
core  

Hereditary ataxias: From phenotype to genotype

open access: yes, 1998
Inherited ataxias constitute a large group of neurological diseases, Refinement in the classification and understanding of these diseases has been taking place in the recent years with advancement in molecular genetics.
Mathuranath, PS, Thomas, SV
core  

Um retrato das ataxias espinocerebelares no Brasil [PDF]

open access: yes, 2012
Pereira, Maria Luiza Saraiva   +6 more
core  

Consensus Paper: Neuroimmune Mechanisms of Cerebellar Ataxias [PDF]

open access: yesCerebellum, 2015
In the last few years, a lot of publications suggested that disabling cerebellar ataxias may develop through immune-mediated mechanisms. In this consensus paper, we discuss the clinical features of the main described immune-mediated cerebellar ataxias ...
Mario Manto   +2 more
exaly   +2 more sources

Advances in Therapies of Cerebellar Disorders: Immune-mediated Ataxias

open access: yesCNS and Neurological Disorders - Drug Targets, 2019
:The identification of an increasing number of immune mediated ataxias suggests that the cerebellum is often a target organ for autoimmune insults. The diagnosis of immune mediated ataxias is challenging as there is significant clinical overlap between ...
Marios Hadjivassiliou
exaly   +2 more sources
Some of the next articles are maybe not open access.

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Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients

Cerebellum, 2020
Luis Velázquez-Pérez   +2 more
exaly  

Inherited Ataxias in Children

Pediatric Neurology, 2022
Subramony Sub, Matthew Burns
exaly  

Zebrafish Models of Autosomal Recessive Ataxias

Cells, 2021
Laura Sánchez Piñón   +2 more
exaly  

Zebrafish Models of Autosomal Dominant Ataxias

Cells, 2021
Laura Sánchez Piñón   +2 more
exaly  

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