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Last Updated: 10/31/2025

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Found 27 publications

Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy.

Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy.

Journal: Cerebellum (London, England)
Published: November 08, 2020

Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report.

Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report.

Journal: Brain & development
Published: November 04, 2018

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Journal: The EMBO journal
Published: August 22, 2018

Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy.

Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy.

Journal: Archives of Iranian medicine
Published: August 16, 2018

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

Journal: Cold Spring Harbor molecular case studies
Published: August 24, 2016

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism.

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism.

Journal: Cell metabolism
Published: September 10, 2015

Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.

Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.

Journal: Journal of child neurology
Published: December 05, 2013

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

Journal: European journal of human genetics : EJHG
Published: October 11, 2012

Case of infantile onset spinocerebellar ataxia type 5.

Case of infantile onset spinocerebellar ataxia type 5.

Journal: Journal of child neurology
Published: August 24, 2012

Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia.

Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia.

Journal: Case reports in pediatrics
Published: June 11, 2012

Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing.

Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing.

Journal: Pediatric neurology
Published: October 19, 2011

IOSCA - Infantile onset spinocerebellar ataxia

IOSCA - Infantile onset spinocerebellar ataxia

Journal: Duodecim; laaketieteellinen aikakauskirja
Published: September 06, 2011
Showing 1-12 of 27

Last Updated: 10/31/2025