Spinocerebellar Ataxia Type 23 Latest Advances

Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: August 06, 2025

Beneficial response to 4-aminopyridine in a case of autosomal recessive spinocerebellar ataxia 23 (SCAR23).

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: November 22, 2024

Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.

Journal: Human genetics

Published: May 05, 2023

Functional Characterization of Spinocerebellar Ataxia Associated Dynorphin A Mutant Peptides.

Journal: Biomedicines

Published: November 14, 2021

Spinocerebellar ataxia type 23 (SCA23): a review.

Journal: Journal of neurology

Published: August 16, 2020

Cerebellar developmental deficits underlie neurodegenerative disorder spinocerebellar ataxia type 23.

Journal: Brain pathology (Zurich, Switzerland)

Published: May 28, 2020

Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Journal: Journal of human genetics

Published: April 24, 2020

Intrafamilial phenotypic variation in spinocerebellar ataxia type 23.

Journal: Cerebellum & ataxias

Published: April 07, 2020

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).

Journal: Cerebellum (London, England)

Published: August 15, 2019

Reply: SCA23 and prodynorphin: is it time for gene retraction?

Journal: Brain : a journal of neurology

Published: May 18, 2016

SCA23 and prodynorphin: is it time for gene retraction?

Journal: Brain : a journal of neurology

Published: May 18, 2016

Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23.

Journal: Human molecular genetics

Published: December 02, 2015

Spinocerebellar Ataxia Type 23 Latest Advances

Find the Latest Research About Spinocerebellar Ataxia Type 23

Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

Beneficial response to 4-aminopyridine in a case of autosomal recessive spinocerebellar ataxia 23 (SCAR23).

Beneficial response to 4-aminopyridine in a case of autosomal recessive spinocerebellar ataxia 23 (SCAR23).

Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.

Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.

Functional Characterization of Spinocerebellar Ataxia Associated Dynorphin A Mutant Peptides.

Functional Characterization of Spinocerebellar Ataxia Associated Dynorphin A Mutant Peptides.

Spinocerebellar ataxia type 23 (SCA23): a review.

Spinocerebellar ataxia type 23 (SCA23): a review.

Cerebellar developmental deficits underlie neurodegenerative disorder spinocerebellar ataxia type 23.

Cerebellar developmental deficits underlie neurodegenerative disorder spinocerebellar ataxia type 23.

Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Intrafamilial phenotypic variation in spinocerebellar ataxia type 23.

Intrafamilial phenotypic variation in spinocerebellar ataxia type 23.

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).

Reply: SCA23 and prodynorphin: is it time for gene retraction?

Reply: SCA23 and prodynorphin: is it time for gene retraction?

SCA23 and prodynorphin: is it time for gene retraction?

SCA23 and prodynorphin: is it time for gene retraction?

Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23.

Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23.