There are over 40 autosomal dominant spinocerebellar ataxias (SCAs) now identified. In this chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy …
Interest in the cerebellum is expanding given evidence of its contributions to cognition and emotion, and dysfunction in various psychopathologies. However, research into its genetic …
Micronutrient status of parents can affect long term health of their progeny. Around 2 billion humans are affected by chronic micronutrient deficiency. In this study we use zebrafish as a …
M Kumar, N Tyagi, M Faruq - Emerging Topics in Life Sciences, 2023 - portlandpress.com
Spinocerebellar ataxias (SCAs) are a heterogenous group of neurodegenerative disorders which commonly inherited in an autosomal dominant manner. They cause muscle …
Abstract Spinocerebellar ataxia type 12 (SCA12) is a neurogenetic disease, marked with prominent action tremors in the upper limbs. Neuroimaging techniques like magnetic …
Polyglutamine (polyQ) regions are highly abundant consecutive runs of glutamine residues. They have been generally studied in relation to the so-called polyQ-associated diseases …
T Kurosaki, T Ashizawa - Frontiers in Genetics, 2022 - frontiersin.org
Spinocerebellar ataxia type 10 (SCA10) is characterized by progressive cerebellar neurodegeneration and, in many patients, epilepsy. This disease mainly occurs in …
P Sharma, AK Sonakar, N Tyagi, V Suroliya… - Advanced …, 2022 - Wiley Online Library
Cerebellar ataxias (CAs) represent a group of autosomal dominant and recessive neurodegenerative disorders affecting cerebellum with or without spinal cord. Overall, CAs …
C Zhou, HB Liu, F Jahanbakhsh, L Deng… - Movement …, 2023 - Wiley Online Library
Background Spinocerebellar ataxia type 12 (SCA12) is a neurodegenerative disease caused by expansion of a CAG repeat in the PPP2R2B gene. Objective In this study, we …