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Article

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

Clinical neurology and neurosurgery - 1 Jul 2012

Haga Rie, Miki Yasuo, Funamizu Yukihisa, Kon Tomoya, Suzuki Chieko, Ueno Tatsuya, Nishijima Haruo, Arai Akira, Tomiyama Masahiko, Shimazaki Haruo, Takiyama Yoshihisa, Baba Masayuki

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Identifiers

PMID: 22209141
DOI: 10.1016/j.clineuro.2011.12.019

Genes

SACS

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Related research

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Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay.PMID 22209141Read ↗

Novel SACS mutation in 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 ↗

[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with 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 ↗

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

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.Semantic proximity Read ↗

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

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

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.Semantic proximity Read ↗

Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.Semantic proximity Read ↗

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.Semantic proximity Read ↗

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