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Article

Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Journal of the neurological sciences - 15 Nov 2015

Sánchez Marta González, Pérez Jesús Esteban, Pérez María Rabasa, Redondo Alberto García

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Identifiers

PMID: 26344561
DOI: 10.1016/j.jns.2015.08.032

Genes

SACS

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Related research

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Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.PMID 26344561Read ↗

Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay.Semantic proximity Read ↗

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.Semantic proximity Read ↗

A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.Semantic proximity Read ↗

Novel Compound Heterozygous SACS Mutations in a Case with a Spasticity-Lacking Phenotype of Sacsin-Related Ataxia.Semantic proximity Read ↗

A phenotype without spasticity in sacsin-related ataxia.Semantic proximity Read ↗

Novel SACS mutation in a Belgian family with sacsin-related ataxia.Semantic proximity Read ↗

[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay].Semantic proximity Read ↗

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.Semantic proximity Read ↗

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.Semantic proximity Read ↗

An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.Semantic proximity Read ↗

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.Semantic proximity Read ↗

Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.Semantic proximity Read ↗

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